GPT/Manual vs Pipeline Variant Comparison

Generated 2026-07-20T13:47:42

The GPT files are transparent manually curated synthetic baselines, not literal outputs from an independent clinical annotation engine.

Summary

Disease Gene GPT SNVs Pipeline SNVs SNV identities ClinVar class SNV result AnnotSV ClassifyCNV ISV probability CNV result
AchondroplasiaFGFR32020MATCHPathogenicMATCH3Uncertain significance0.006764889229089022MATCH
Klippel–Trénaunay syndromePIK3CA2020MATCHPathogenicMATCH3Uncertain significance0.013497603125870228MATCH
McCune–Albright syndromeGNAS2020MATCHPathogenic/Likely pathogenicMATCH5Likely pathogenic0.8791712522506714MATCH
Pompe diseaseGAA2020MATCHPathogenicMATCH5Likely pathogenic0.3094403147697449MATCH

Achondroplasia

Small variants

GPT/manual records
20
Pipeline records
20
All identities
MATCH
Gene found
MATCH
Expected class
Pathogenic
ClinVar class
Pathogenic
Condition
Epidermal nevus|Camptodactyly-tall stature-scoliosis-hearing loss syndrome|Crouzon syndrome-acanthosis nigricans syndrome|Carcinoma of colon|Malignant tumor of testis|Severe achondroplasia-developmental delay-acanthosis nigricans syndrome|Thanatophoric dysplasia type 1|Thanatophoric dysplasia, type 2|Levy-Hollister syndrome|Hypochondroplasia|Muenke syndrome|Cervical cancer|Malignant tumor of urinary bladder|Achondroplasia|Connective tissue disorder|FGFR3-related disorder|Inborn genetic diseases|not provided|Intellectual disability
Review status
criteria provided, multiple submitters, no conflicts
CSQ present
Yes
ANN present
Yes
SpliceAI
A|FGFR3|0.01|0.00|0.05|0.00|2|-14|2|-23
GNOMAD
A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000260795|nonsense_mediated_decay|10/19||||1545|||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000340107|protein_coding|9/18||||1419|1144|382|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|intron_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000352904|protein_coding||6/14||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000412135|protein_coding|9/18||||1401|1126|376|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000440486|protein_coding|9/18||||1413|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|YES|MANE_Select|NM_000142.5||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|upstream_gene_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000469068|retained_intron||||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429|100|1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|downstream_gene_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000474521|retained_intron||||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429|1240|1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000481110|protein_coding|9/17||||1405|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|downstream_gene_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000507588|protein_coding||||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429|653|1|cds_start_NF&cds_end_NF|HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000643463|protein_coding_CDS_not_defined|3/3||||289|||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000901225|protein_coding|9/18||||1419|1144|382|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000901226|protein_coding|8/17||||1339|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000901227|protein_coding|8/17||||1340|1144|382|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|intron_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000901228|protein_coding||6/14||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000911470|protein_coding|9/18||||1420|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000911471|protein_coding|9/18||||1331|1051|351|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000911472|protein_coding|9/18||||1411|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000911473|protein_coding|9/18||||1411|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000911474|protein_coding|8/17||||1161|1099|367|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|intron_variant|MODIFIER|FGFR3|ENSG00000068078|Transcript|ENST00000955401|protein_coding||7/15||||||||rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000955402|protein_coding|9/18||||1373|1099|367|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000955403|protein_coding|8/17||||1403|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1,A|missense_variant|MODERATE|FGFR3|ENSG00000068078|Transcript|ENST00000955404|protein_coding|8/17||||1342|1138|380|G/R|Ggg/Agg|rs28931614&CM940785&CM940786&CX090489&COSV53399372&COSV99602429||1||HGNC|HGNC:3690|||||4.792e-06|0|0|0|0|0|0|4.498e-06|1.657e-05|1.16e-05||||||||||||1.657e-05|gnomADe_REMAINING|pathogenic|0&0&0&0&1&1|1&1&1&1&1&1
Overall
MATCH

CNVs

GPT/manual records
20
Expected class
VUS
AnnotSV class
3
AnnotSV score
0.0
Gene(s)
FGFR3
ClassifyCNV class
Uncertain significance
ClassifyCNV score
0.00
ISV probability
0.006764889229089022
Mechanism fit
SNV: High; CNV: Low
Overall
MATCH

Klippel–Trénaunay syndrome

Small variants

GPT/manual records
20
Pipeline records
20
All identities
MATCH
Gene found
MATCH
Expected class
Pathogenic
ClinVar class
Pathogenic
Condition
PIK3CA-Related Overgrowth Spectrum Disorders|MACRODACTYLY, SOMATIC|Congenital macrodactylia|CLAPO syndrome|PIK3CA-related disorder|Cerebrofacial Vascular Metameric Syndrome (CVMS)|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC|Rare venous malformation|Rare combined vascular malformation|Klippel-Trenaunay-like-Syndrome|Rosette-forming glioneuronal tumor|Lip and oral cavity carcinoma|Gastric cancer|PIK3CA related overgrowth syndrome|not provided|CLOVES syndrome|Megalencephaly-capillary malformation-polymicrogyria syndrome|Seborrheic keratosis|Hepatocellular carcinoma|Ovarian neoplasm|Non-small cell lung carcinoma|OVARIAN CANCER, EPITHELIAL, SOMATIC|Carcinoma of colon|Breast adenocarcinoma|Segmental undergrowth associated with mainly venous malformation with capillary component|Segmental undergrowth associated with lymphatic malformation|Abnormal cardiovascular system morphology|Breast carcinoma
Review status
reviewed by expert panel
CSQ present
Yes
ANN present
Yes
SpliceAI
G|PIK3CA|0.00|0.00|0.00|0.00|0|2|-5|5
GNOMAD
G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000263967|protein_coding|21/21||||3463|3140|1047|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975|YES|MANE_Select|NM_006218.4|||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|non_coding_transcript_exon_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000462255|retained_intron|11/11||||2163|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|downstream_gene_variant|MODIFIER|KCNMB3|ENSG00000171121|Transcript|ENST00000485523|protein_coding||||||||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015|2394|-1||HGNC|HGNC:6287||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|3_prime_UTR_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000643187|protein_coding|22/22||||3329|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|non_coding_transcript_exon_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000674534|retained_intron|15/15||||4048|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000674622|nonsense_mediated_decay|12/12||||1561|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1|cds_start_NF|HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|non_coding_transcript_exon_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000675467|retained_intron|20/20||||5947|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000675786|nonsense_mediated_decay|21/21||||3361|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|non_coding_transcript_exon_variant|MODIFIER|PIK3CA|ENSG00000121879|Transcript|ENST00000675796|retained_intron|4/4||||3035|||||rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000876545|protein_coding|22/22||||3364|3140|1047|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000913499|protein_coding|22/22||||3714|3140|1047|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000913500|protein_coding|21/21||||4505|3140|1047|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000955189|protein_coding|22/22||||3721|3140|1047|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1,G|missense_variant|MODERATE|PIK3CA|ENSG00000121879|Transcript|ENST00000955190|protein_coding|21/21||||3594|3170|1057|H/R|cAt/cGt|rs121913279&CM153086&COSV55873195&COSV55873401&COSV55888015||1||HGNC|HGNC:8975||||||||||||||||||||||||||||pathogenic&pathogenic/likely_pathogenic&likely_pathogenic|0&0&1&1&1|1&1&1&1&1
Overall
MATCH

CNVs

GPT/manual records
20
Expected class
VUS
AnnotSV class
3
AnnotSV score
0.0
Gene(s)
PIK3CA;LOC124900560;KCNMB3
ClassifyCNV class
Uncertain significance
ClassifyCNV score
0.00
ISV probability
0.013497603125870228
Mechanism fit
SNV: High; CNV: Low
Overall
MATCH

McCune–Albright syndrome

Small variants

GPT/manual records
20
Pipeline records
20
All identities
MATCH
Gene found
MATCH
Expected class
Pathogenic or likely pathogenic
ClinVar class
Pathogenic/Likely pathogenic
Condition
Pituitary adenoma 3, multiple types|Pseudohypoparathyroidism type 1B|Pseudopseudohypoparathyroidism|Pseudohypoparathyroidism type 1C|ACTH-independent macronodular adrenal hyperplasia 1|Pseudohypoparathyroidism type I A|Progressive osseous heteroplasia|McCune-Albright syndrome|Inborn genetic diseases|not provided|Sex cord-stromal tumor
Review status
criteria provided, multiple submitters, no conflicts
CSQ present
Yes
ANN present
Yes
SpliceAI
A|GNAS|0.00|0.00|0.00|0.01|-42|-16|-48|37
GNOMAD
A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000265620|protein_coding|7/12||||920|557|186|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000306090|protein_coding|8/13||||506|506|169|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000313949|protein_coding|8/13||||1632|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000349036|protein_coding|7/12||||2486|2486|829|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000354359|protein_coding|8/13||||911|605|202|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000371075|protein_coding|8/13||||1605|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392||MANE_Plus_Clinical||NM_016592.5|2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000371085|protein_coding|8/13||||908|602|201|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|YES|MANE_Select|NM_000516.7||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000371095|protein_coding|7/12||||985|560|187|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000371100|protein_coding|8/13||||3081|2531|844|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392||MANE_Plus_Clinical||NM_080425.4|2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000371102|protein_coding|7/12||||2492|2489|830|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000419558|protein_coding|7/12||||1557|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000453292|protein_coding|7/12||||1201|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000462499|protein_coding|7/12||||679|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000464624|nonsense_mediated_decay|9/14||||2625|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000464788|protein_coding|8/13||||530|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000467227|protein_coding|8/13||||543|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000467321|protein_coding|8/13||||617|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000468895|protein_coding|8/13||||638|602|201|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000469431|protein_coding|8/13||||719|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000470512|protein_coding|8/13||||676|428|143|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000472183|protein_coding|8/13||||854|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000475610|retained_intron|5/9||||1108|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000476196|retained_intron|5/10||||895|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000476935|protein_coding|7/12||||591|380|127|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000477931|protein_coding|8/13||||717|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000478585|protein_coding|7/12||||615|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000479025|retained_intron|2/4||||318|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000480232|protein_coding|9/14||||621|428|143|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000480975|protein_coding|7/12||||601|380|127|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000481039|protein_coding|7/12||||471|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000482112|protein_coding|7/12||||676|380|127|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000485673|protein_coding|7/12||||847|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000487862|retained_intron|6/11||||836|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000487981|retained_intron|5/6||||339|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000488546|protein_coding|7/12||||461|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000488652|protein_coding|8/13||||692|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|downstream_gene_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000490374|protein_coding_CDS_not_defined||||||||||rs121913495&CM158823&COSV55670349&COSV55671845|150|1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000492907|protein_coding|7/12||||553|383|128|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000493958|retained_intron|4/5||||221|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|intron_variant&NMD_transcript_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000494081|nonsense_mediated_decay||3/5||||||||rs121913495&CM158823&COSV55670349&COSV55671845||1|cds_start_NF|HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000496934|retained_intron|6/11||||1891|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000603546|protein_coding|8/13||||637|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000604005|protein_coding|8/13||||636|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000656419|protein_coding|3/8||||135|131|44|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000657090|protein_coding|8/13||||621|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000663479|protein_coding|8/13||||720|428|143|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000667293|protein_coding|8/13||||519|425|142|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|missense_variant|MODERATE|GNAS|ENSG00000087460|Transcript|ENST00000676826|protein_coding|8/13||||3086|2534|845|R/H|cGt/cAt|rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682092|retained_intron|4/8||||4789|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682134|protein_coding_CDS_not_defined|8/13||||2528|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682411|retained_intron|4/9||||2697|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682590|retained_intron|4/9||||4789|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682680|retained_intron|3/8||||4803|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682803|nonsense_mediated_decay|8/13||||752|||||rs121913495&CM158823&COSV55670349&COSV55671845||1|cds_start_NF|HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682829|retained_intron|6/11||||2930|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682917|retained_intron|4/9||||1130|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000682986|retained_intron|3/4||||4922|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|3_prime_UTR_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000683015|protein_coding|8/13||||1372|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000683632|retained_intron|3/5||||4931|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000683932|retained_intron|3/8||||6378|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000684284|retained_intron|7/12||||2980|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000684466|retained_intron|4/9||||1241|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000684644|retained_intron|3/8||||4922|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1,A|non_coding_transcript_exon_variant|MODIFIER|GNAS|ENSG00000087460|Transcript|ENST00000684761|retained_intron|5/10||||1095|||||rs121913495&CM158823&COSV55670349&COSV55671845||1||HGNC|HGNC:4392|||||2.601e-05|0|2.236e-05|7.655e-05|0|0|0|3.06e-05|0|1.16e-05|1.315e-05|2.414e-05|0|0|0|0|0|0|1.47e-05|0|0|7.655e-05|gnomADe_ASJ|pathogenic&likely_pathogenic|0&0&1&1|1&1&1&1
Overall
MATCH

CNVs

GPT/manual records
20
Expected class
Pathogenic or likely pathogenic
AnnotSV class
5
AnnotSV score
1.0
Gene(s)
GNAS-AS1;GNAS;LOC101927932
ClassifyCNV class
Likely pathogenic
ClassifyCNV score
0.90
ISV probability
0.8791712522506714
Mechanism fit
SNV: High; CNV: Low for named disease
Overall
MATCH

Pompe disease

Small variants

GPT/manual records
20
Pipeline records
20
All identities
MATCH
Gene found
MATCH
Expected class
Pathogenic
ClinVar class
Pathogenic
Condition
GAA-related disorder|Glycogen storage disease due to acid maltase deficiency, late-onset|Glycogen storage disease, type II|Fetal anomalies with a likely genetic cause|Cardiovascular phenotype|not provided|Glycogen storage disease, type IV|Myopathy|Glycogen storage disease|See cases
Review status
reviewed by expert panel
CSQ present
Yes
ANN present
Yes
SpliceAI
G|GAA|0.00|0.06|0.00|0.00|21|13|-40|50
GNOMAD
G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000302262|protein_coding||1/19||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|YES|MANE_Select|NM_000152.5||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000390015|protein_coding||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|downstream_gene_variant|MODIFIER|CCDC40|ENSG00000141519|Transcript|ENST00000397545|protein_coding||||||||||rs386834236&CS144972&CS941489|3929|1||HGNC|HGNC:26090|YES|MANE_Select|NM_017950.4||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000570803|protein_coding||1/19||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant&NMD_transcript_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000572080|nonsense_mediated_decay||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|downstream_gene_variant|MODIFIER|GAA|ENSG00000171298|Transcript|ENST00000574376|protein_coding_CDS_not_defined||||||||||rs386834236&CS144972&CS941489|1809|1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|downstream_gene_variant|MODIFIER|CCDC40|ENSG00000141519|Transcript|ENST00000574799|retained_intron||||||||||rs386834236&CS144972&CS941489|3938|1||HGNC|HGNC:26090|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000577106|protein_coding||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|intron_variant|MODIFIER|GAA|ENSG00000171298|Transcript|ENST00000714054|protein_coding||1/18||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000714055|protein_coding||1/19||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant&NMD_transcript_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000714056|nonsense_mediated_decay||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000714057|protein_coding||3/21||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000714058|protein_coding||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant&NMD_transcript_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000714061|nonsense_mediated_decay||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|intron_variant|MODIFIER|GAA|ENSG00000171298|Transcript|ENST00000714062|protein_coding||1/17||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|downstream_gene_variant|MODIFIER|CCDC40|ENSG00000141519|Transcript|ENST00000897784|protein_coding||||||||||rs386834236&CS144972&CS941489|3931|1||HGNC|HGNC:26090|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000933404|protein_coding||1/16||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000933405|protein_coding||1/19||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000933406|protein_coding||1/19||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|GAA|ENSG00000171298|Transcript|ENST00000945487|protein_coding||2/20||||||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1,G|5_prime_UTR_variant|MODIFIER|GAA|ENSG00000171298|Transcript|ENST00000945488|protein_coding|2/20||||186|||||rs386834236&CS144972&CS941489||1||HGNC|HGNC:4065|||||0.005416|0.000674|0.002667|0.005103|0.0001279|0.0002815|0.001238|0.006409|0.00422|0.002162|0.003757|0.001179|0|0.007388|0.006628|0|9.429e-05|0|0.0055|0.00237|0.001449|0.007388|gnomADg_AMR|pathogenic&likely_pathogenic||1&1&1
Overall
MATCH

CNVs

GPT/manual records
20
Expected class
Pathogenic
AnnotSV class
5
AnnotSV score
1.0
Gene(s)
GAA
ClassifyCNV class
Likely pathogenic
ClassifyCNV score
0.90
ISV probability
0.3094403147697449
Mechanism fit
SNV: High; CNV: High
Overall
MATCH

Interpretation rule

A classification match does not automatically prove that the CNV is the usual molecular mechanism of the named disease. Automated CNV classification and disease-mechanism fit are therefore reported separately.