ATAD3A — 416 ClinVar variants

All ClinVar germline ATAD3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 26 Conflicting · 26 Benign · 9 Benign/Likely benign · 52 Likely benign · 279 Uncertain significance

Full ATAD3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 199

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ATAD3A c.283-45G>A Conflicting Single submitter
Inborn genetic diseases
ATAD3A c.283-81G>A Conflicting Single submitter
Inborn genetic diseases
ATAD3A p.Ala191Thr Conflicting Single submitter
ATAD3A p.Arg327Pro Conflicting Single submitter
Harel-Yoon syndrome
ATAD3A p.Arg420Gln Conflicting Single submitter
Inborn genetic diseases
ATAD3A p.Lys568Met Conflicting Single submitter
intellectual disability
ATAD3A p.Met186Ile Conflicting Single submitter
Inborn genetic diseases
ATAD3A p.Thr53Ile Conflicting Single submitter
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Predictors lean, ClinVar uncertain 112

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ATAD3A p.Ala462Thr Uncertain significance Multiple submitters
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Arg138Gln Uncertain significance Multiple submitters
ATAD3A p.Arg188Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg342Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg342His Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Asn184Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Asp581Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Ile375Asn Uncertain significance Multiple submitters
hearing loss disorder
ATAD3A p.Leu437Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Ser526Trp Uncertain significance Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Thr359Met Uncertain significance Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Thr556Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A c.283-104G>C Uncertain significance Single submitter
ATAD3A c.283-110T>G Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-114A>G Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-117C>T Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-12T>C Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-135G>C Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-141C>T Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-27C>G Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-47G>A Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-75G>C Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-86G>A Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A c.283-87C>A Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala137Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala172Asp Uncertain significance Single submitter
ATAD3A p.Ala204Val Uncertain significance Single submitter
ATAD3A p.Ala25Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala334Pro Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Ala366Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala374Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala415Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala42Val Uncertain significance Single submitter
ATAD3A p.Ala552Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala574Gly Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala71Gly Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala71Thr Uncertain significance Single submitter
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Arg124Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg124Trp Uncertain significance Single submitter
ATAD3A p.Arg176Trp Uncertain significance Single submitter
ATAD3A p.Arg181Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg194Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg196Cys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg208His Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg273Pro Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg342Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg420Gly Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg439Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg439Pro Uncertain significance Single submitter
ATAD3A p.Arg466Cys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg481Trp Uncertain significance Single submitter
ATAD3A p.Arg483Gly Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Asp143Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Asp372Tyr Uncertain significance Single submitter
ATAD3A p.Asp460Asn Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gln147Arg Uncertain significance Single submitter
ATAD3A p.Gln458Pro Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Gln83Arg Uncertain significance Single submitter
ATAD3A p.Gln90Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu101Ala Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Glu114Lys Uncertain significance Single submitter
ATAD3A p.Glu154Asp Uncertain significance Single submitter
ATAD3A p.Glu167Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu200Lys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu427Lys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu482Asp Uncertain significance Single submitter
ATAD3A p.Glu66Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly10Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly13Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly234Arg Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Gly236Val Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Gly280Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly32Ser Uncertain significance Single submitter
ATAD3A p.Gly441Asp Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Gly547Arg Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Gly576Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.His218Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.His472Gln Uncertain significance Single submitter
ATAD3A p.Ile206Val Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ile291Val Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ile463Val Uncertain significance Single submitter
ATAD3A p.Ile530Asn Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Ile530Phe Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ile7Leu Uncertain significance Single submitter
ATAD3A p.Leu150Phe Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Leu315Pro Uncertain significance Single submitter
ATAD3A p.Leu417Phe Uncertain significance Single submitter
ATAD3A p.Lys183Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Lys183Glu Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Lys214Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Lys358Asn Uncertain significance Single submitter
ATAD3A p.Lys44Arg Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Lys92Arg Uncertain significance Single submitter
ATAD3A p.Met169Ile Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Met371Ile Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Met384Ile Uncertain significance Single submitter
ATAD3A p.Phe409Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Phe416Cys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Phe50Leu Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Pro18Ser Uncertain significance Single submitter
ATAD3A p.Pro282Leu Uncertain significance Single submitter
ATAD3A p.Pro52Leu Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Pro585Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ser105Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ser343Gly Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ser402Asn Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ser526Leu Uncertain significance Single submitter
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Trp244Cys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Val174Gly Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Val241Leu Uncertain significance Single submitter
ATAD3A p.Val259Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Val450Ala Uncertain significance No assertion criteria
Harel-Yoon syndrome

Predictors split 79

The independent predictors disagree with each other — read with care.

ATAD3A p.Ala62Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg212Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg273Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg273Ser Uncertain significance Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Arg327Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg327Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg439Cys Uncertain significance Multiple submitters
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Arg481Gln Uncertain significance Multiple submitters
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Arg503His Uncertain significance Multiple submitters
Inborn genetic diseases
ATAD3A p.Arg528Gln Likely pathogenic Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Arg528Trp Pathogenic/Likely pathogenic Multiple submitters
ATAD3A-related mitochondrial disorders
ATAD3A p.Pro353Leu Uncertain significance Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Pro496Leu Uncertain significance Multiple submitters
Harel-Yoon syndrome
ATAD3A p.Thr84Met Uncertain significance Multiple submitters
ATAD3A p.Ala168Asp Uncertain significance Single submitter
ATAD3A p.Ala168Gly Uncertain significance Single submitter
ATAD3A p.Ala216Ser Conflicting Single submitter
Harel-Yoon syndrome
ATAD3A p.Ala314Val Uncertain significance Single submitter
ATAD3A p.Ala334Ser Uncertain significance Single submitter
ATAD3A p.Ala362Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala391Thr Uncertain significance Single submitter
ATAD3A p.Ala435Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala452Thr Uncertain significance Single submitter
ATAD3A p.Ala519Thr Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala74Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ala74Thr Uncertain significance Single submitter
ATAD3A p.Ala99Thr Likely benign Single submitter
ATAD3A p.Arg109Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg109Trp Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg115Thr Uncertain significance Single submitter
ATAD3A p.Arg129Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg140His Uncertain significance Single submitter
ATAD3A p.Arg171Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg238Cys Uncertain significance Single submitter
ATAD3A p.Arg273His Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg273Leu Uncertain significance Single submitter
ATAD3A p.Arg278Trp Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg290His Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg298Trp Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg327Trp Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg329His Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Arg386Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg404His Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg418Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Arg418Trp Conflicting Single submitter
Inborn genetic diseases
ATAD3A p.Arg503Cys Conflicting Single submitter
Inborn genetic diseases
ATAD3A p.Asn454Ser Conflicting Single submitter
Harel-Yoon syndrome
ATAD3A p.Gln159Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu114Gln Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu142Gly Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu161Lys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Glu287Gln Uncertain significance Single submitter
ATAD3A p.Glu469Asp Uncertain significance Single submitter
ATAD3A p.Glu64Ala Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly317Ala Uncertain significance Single submitter
ATAD3A p.Gly36Arg Uncertain significance Single submitter
ATAD3A p.Gly405Ser Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Gly500Val Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Leu349Val Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Leu494Ile Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Leu77Met Uncertain significance Single submitter
ATAD3A p.Leu77Val Conflicting Single submitter
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
ATAD3A p.Leu93Pro Likely pathogenic Single submitter
ATAD3A deficiency
ATAD3A p.Lys135Asn Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Lys60Met Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Met371Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Met448Val Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Met525Val Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Phe274Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Phe489Val Uncertain significance Single submitter
Harel-Yoon syndrome
ATAD3A p.Pro20Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Pro23Leu Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Pro24Ser Uncertain significance Single submitter
ATAD3A p.Pro43His Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Ser48Arg Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Tyr262Phe Uncertain significance Single submitter
ATAD3A p.Tyr488Cys Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Val174Met Uncertain significance Single submitter
Inborn genetic diseases
ATAD3A p.Leu77Arg Pathogenic No assertion criteria
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

All ATAD3A variants

Pathogenic 7

c.282+484_444+231del Single submitter Harel-Yoon syndrome
c.283-60del Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Arg188Ter Single submitter
p.Gln455fs Single submitter Harel-Yoon syndrome
p.Leu406Arg Single submitter isolated cerebellar hypoplasia/agenesis
p.Gln164Ter No assertion criteria pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Leu77Arg No assertion criteria pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠

Pathogenic/Likely pathogenic 1

p.Arg528Trp Multiple submitters ATAD3A-related mitochondrial disorders ⚠

Likely pathogenic 16

c.384+1G>A Multiple submitters
p.Arg528Gln Multiple submitters Harel-Yoon syndrome ⚠
c.1266+1G>A Single submitter
c.281_282+1del Single submitter
c.385-2A>C Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
c.964-1G>T Single submitter Harel-Yoon syndrome
p.Gln220Ter Single submitter
p.Gln563fs Single submitter
p.His472fs Single submitter Harel-Yoon syndrome
p.Leu93Pro Single submitter ATAD3A deficiency ⚠
p.Lys358fs Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Met1Lys Single submitter
p.Trp537Ter Single submitter Harel-Yoon syndrome
p.Tyr70fs Single submitter Harel-Yoon syndrome
p.Tyr96Ter Single submitter
p.Val381fs Single submitter Harel-Yoon syndrome

Conflicting classifications of pathogenicity 26

c.283-45G>A Single submitter Inborn genetic diseases ⚠
c.283-81G>A Single submitter Inborn genetic diseases ⚠
p.Ala128= Single submitter
p.Ala191Thr Single submitter ⚠
p.Ala216Ser Single submitter Harel-Yoon syndrome ⚠
p.Ala78= Single submitter Inborn genetic diseases
p.Arg171Ter Single submitter Inborn genetic diseases
p.Arg310Ter Single submitter
p.Arg327Pro Single submitter Harel-Yoon syndrome ⚠
p.Arg418Trp Single submitter Inborn genetic diseases ⚠
p.Arg420Gln Single submitter Inborn genetic diseases ⚠
p.Arg503Cys Single submitter Inborn genetic diseases ⚠
p.Arg557His Single submitter Inborn genetic diseases
p.Asn454Ser Single submitter Harel-Yoon syndrome ⚠
p.Asp465_Asn468del Single submitter ATAD3A-related condition
p.Glu202Lys Single submitter intellectual disability
p.His565Tyr Single submitter epilepsy
p.Ile530Val Single submitter Inborn genetic diseases
p.Leu77Val Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Lys446Asn Single submitter Inborn genetic diseases
p.Lys568Met Single submitter intellectual disability ⚠
p.Met186Ile Single submitter Inborn genetic diseases ⚠
p.Phe409= Single submitter
p.Thr250= Single submitter Harel-Yoon syndrome
p.Thr53Ile Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Trp244Arg Single submitter

Benign 26

c.1615-85T>C Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
c.206-12T>C Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
c.*146C>G Multiple submitters Harel-Yoon syndrome
c.*147G>C Multiple submitters Harel-Yoon syndrome
c.*154C>T Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
c.*94G>A Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Asp474His Multiple submitters
p.Gly15= Multiple submitters
p.Leu294= Multiple submitters
p.Leu320= Multiple submitters
p.Pro311Ser Multiple submitters
c.1090-71G>A Single submitter
c.1615-17G>C Single submitter
c.282+12C>T Single submitter
c.282+21T>C Single submitter
c.282+22G>A Single submitter
c.283-76C>T Single submitter
c.680+13G>C Single submitter
c.751-51A>G Single submitter
c.906+6A>G Single submitter
p.Ala574= Single submitter
p.Arg176Gln Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Gly36= Single submitter
p.Leu365= Single submitter
p.Thr288= Single submitter
p.Val100Met Single submitter

Benign/Likely benign 9

c.1089+8C>T Multiple submitters
c.1215-6T>C Multiple submitters Harel-Yoon syndrome
c.1267-8C>G Multiple submitters Harel-Yoon syndrome
c.907-5G>A Multiple submitters
p.Ala413= Multiple submitters
p.Glu575= Multiple submitters
p.Ile7Val Multiple submitters Harel-Yoon syndrome
p.Pro583= Multiple submitters
p.Tyr373= Multiple submitters

Likely benign 52

c.1615-7C>T Multiple submitters
c.1615-8C>T Multiple submitters
c.750+10C>A Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Ala264= Multiple submitters
p.Ala534= Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Ala574Val Multiple submitters Inborn genetic diseases
p.Glu224= Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Glu56= Multiple submitters
p.Gly578Arg Multiple submitters
p.Ser120= Multiple submitters
c.283-105T>C Single submitter Inborn genetic diseases
c.283-73G>A Single submitter
c.283-87C>T Single submitter
c.445-6_445-4del Single submitter
c.750+10C>T Single submitter
c.751-6C>T Single submitter
p.Ala110= Single submitter
p.Ala110Val Single submitter Inborn genetic diseases
p.Ala215= Single submitter
p.Ala399= Single submitter
p.Ala541= Single submitter
p.Ala99Thr Single submitter ⚠
p.Arg138= Single submitter
p.Arg194Trp Single submitter Inborn genetic diseases
p.Arg520Gln Single submitter Inborn genetic diseases
p.Arg557= Single submitter
p.Arg579= Single submitter
p.Arg579His Single submitter Inborn genetic diseases
p.Asn347= Single submitter
p.Asn445Ser Single submitter Inborn genetic diseases
p.Asp313= Single submitter
p.Gln164= Single submitter
p.Gln566= Single submitter
p.Gly13= Single submitter
p.Ile301Val Single submitter Inborn genetic diseases
p.Ile331= Single submitter
p.Leu213= Single submitter
p.Leu449= Single submitter
p.Leu549= Single submitter
p.Pro27= Single submitter
p.Pro322= Single submitter
p.Pro496= Single submitter
p.Pro585del Single submitter Inborn genetic diseases
p.Ser162= Single submitter
p.Ser516= Single submitter
p.Thr292= Single submitter
p.Thr335= Single submitter
p.Thr338= Single submitter
p.Thr390= Single submitter
p.Thr550= Single submitter
p.Tyr351= Single submitter
p.Val562Ile Single submitter Inborn genetic diseases

Uncertain significance 279

c.282+5G>A Multiple submitters
c.283-3C>T Multiple submitters Harel-Yoon syndrome
c.385-3C>G Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Ala462Thr Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Ala541Val Multiple submitters
p.Ala62Val Multiple submitters Inborn genetic diseases ⚠
p.Arg138Gln Multiple submitters ⚠
p.Arg138Trp Multiple submitters Inborn genetic diseases
p.Arg188Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg208Cys Multiple submitters Inborn genetic diseases
p.Arg212Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg273Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg273Ser Multiple submitters Harel-Yoon syndrome ⚠
p.Arg327Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg327Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg342Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg342His Multiple submitters Inborn genetic diseases ⚠
p.Arg439Cys Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Arg481Gln Multiple submitters pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Arg503His Multiple submitters Inborn genetic diseases ⚠
p.Asn184Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn347His Multiple submitters Inborn genetic diseases
p.Asp581Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu545Lys Multiple submitters Harel-Yoon syndrome
p.Glu551Gln Multiple submitters Inborn genetic diseases
p.Glu551Lys Multiple submitters Inborn genetic diseases
p.Ile375Asn Multiple submitters hearing loss disorder ⚠
p.Leu320Phe Multiple submitters Inborn genetic diseases
p.Leu437Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys358Ter Multiple submitters Harel-Yoon syndrome
p.Pro353Leu Multiple submitters Harel-Yoon syndrome ⚠
p.Pro496Leu Multiple submitters Harel-Yoon syndrome ⚠
p.Ser526Trp Multiple submitters Harel-Yoon syndrome ⚠
p.Ser584Phe Multiple submitters Inborn genetic diseases
p.Thr231Ile Multiple submitters Inborn genetic diseases
p.Thr268Met Multiple submitters Inborn genetic diseases
p.Thr359Met Multiple submitters Harel-Yoon syndrome ⚠
p.Thr556Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr84Met Multiple submitters ⚠
p.Val247Met Multiple submitters Inborn genetic diseases
p.Val410Met Multiple submitters Inborn genetic diseases
c.1089+1G>C Single submitter disorder of development or morphogenesis
c.1090-3C>G Single submitter Harel-Yoon syndrome
c.1338-1G>A Single submitter Inborn genetic diseases
c.206-9C>A Single submitter
c.283-104G>C Single submitter ⚠
c.283-110T>G Single submitter Inborn genetic diseases ⚠
c.283-114A>G Single submitter Inborn genetic diseases ⚠
c.283-117C>T Single submitter Inborn genetic diseases ⚠
c.283-117CA[2] Single submitter Inborn genetic diseases
c.283-12T>C Single submitter Inborn genetic diseases ⚠
c.283-135G>C Single submitter Inborn genetic diseases ⚠
c.283-141C>T Single submitter Inborn genetic diseases ⚠
c.283-158G>A Single submitter Harel-Yoon syndrome
c.283-27C>G Single submitter Inborn genetic diseases ⚠
c.283-47G>A Single submitter Inborn genetic diseases ⚠
c.283-75G>C Single submitter Inborn genetic diseases ⚠
c.283-86G>A Single submitter Inborn genetic diseases ⚠
c.283-87C>A Single submitter Inborn genetic diseases ⚠
c.445-3C>T Single submitter Inborn genetic diseases
c.515-4G>C Single submitter Harel-Yoon syndrome
c.751-560C>T Single submitter Harel-Yoon syndrome
c.906+4G>C Single submitter
c.964-5G>A Single submitter
c.-1C>T Single submitter
p.Ala137Ser Single submitter Inborn genetic diseases ⚠
p.Ala168Asp Single submitter ⚠
p.Ala168Gly Single submitter ⚠
p.Ala172Asp Single submitter ⚠
p.Ala204Val Single submitter ⚠
p.Ala25Ser Single submitter Inborn genetic diseases ⚠
p.Ala314Val Single submitter ⚠
p.Ala334Pro Single submitter Harel-Yoon syndrome ⚠
p.Ala334Ser Single submitter ⚠
p.Ala362Thr Single submitter Inborn genetic diseases ⚠
p.Ala366Thr Single submitter Inborn genetic diseases ⚠
p.Ala374Thr Single submitter Inborn genetic diseases ⚠
p.Ala391Thr Single submitter ⚠
p.Ala413Val Single submitter Inborn genetic diseases
p.Ala415Thr Single submitter Inborn genetic diseases ⚠
p.Ala42Val Single submitter ⚠
p.Ala435Ser Single submitter Inborn genetic diseases ⚠
p.Ala452Thr Single submitter ⚠
p.Ala519Thr Single submitter Inborn genetic diseases ⚠
p.Ala531Thr Single submitter Inborn genetic diseases
p.Ala552Ser Single submitter Inborn genetic diseases ⚠
p.Ala561Phe Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Ala574Gly Single submitter Inborn genetic diseases ⚠
p.Ala71Gly Single submitter Inborn genetic diseases ⚠
p.Ala71Thr Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Ala74Ser Single submitter Inborn genetic diseases ⚠
p.Ala74Thr Single submitter ⚠
p.Arg109Gln Single submitter Inborn genetic diseases ⚠
p.Arg109Trp Single submitter Inborn genetic diseases ⚠
p.Arg115Thr Single submitter ⚠
p.Arg124Gln Single submitter Inborn genetic diseases ⚠
p.Arg124Trp Single submitter ⚠
p.Arg129Ser Single submitter Inborn genetic diseases ⚠
p.Arg140His Single submitter ⚠
p.Arg157Trp Single submitter Inborn genetic diseases
p.Arg170Gln Single submitter Inborn genetic diseases
p.Arg170Trp Single submitter Harel-Yoon syndrome
p.Arg171Gln Single submitter Inborn genetic diseases ⚠
p.Arg176Trp Single submitter ⚠
p.Arg181Gln Single submitter Inborn genetic diseases ⚠
p.Arg194Gln Single submitter Inborn genetic diseases ⚠
p.Arg196Cys Single submitter Inborn genetic diseases ⚠
p.Arg196His Single submitter
p.Arg201_Glu202delinsGlyLys Single submitter
p.Arg201Gln Single submitter Inborn genetic diseases
p.Arg208His Single submitter Inborn genetic diseases ⚠
p.Arg238Cys Single submitter ⚠
p.Arg273His Single submitter Inborn genetic diseases ⚠
p.Arg273Leu Single submitter ⚠
p.Arg273Pro Single submitter Inborn genetic diseases ⚠
p.Arg278Trp Single submitter Inborn genetic diseases ⚠
p.Arg290His Single submitter Inborn genetic diseases ⚠
p.Arg298Trp Single submitter Inborn genetic diseases ⚠
p.Arg327Trp Single submitter Inborn genetic diseases ⚠
p.Arg329His Single submitter Harel-Yoon syndrome ⚠
p.Arg336Gly Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Arg342Leu Single submitter Inborn genetic diseases
p.Arg342Ser Single submitter Inborn genetic diseases ⚠
p.Arg386Gln Single submitter Inborn genetic diseases ⚠
p.Arg404His Single submitter Inborn genetic diseases ⚠
p.Arg418Gln Single submitter Inborn genetic diseases ⚠
p.Arg420Gly Single submitter Inborn genetic diseases ⚠
p.Arg439His Single submitter Inborn genetic diseases
p.Arg439Leu Single submitter Inborn genetic diseases ⚠
p.Arg439Pro Single submitter ⚠
p.Arg466Cys Single submitter Inborn genetic diseases ⚠
p.Arg481Trp Single submitter ⚠
p.Arg483Gly Single submitter Harel-Yoon syndrome ⚠
p.Arg520Trp Single submitter
p.Arg557Cys Single submitter
p.Arg557Gly Single submitter Inborn genetic diseases
p.Arg579Cys Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Arg579Pro Single submitter Inborn genetic diseases
p.Asn266Ser Single submitter
p.Asn464Ser Single submitter Inborn genetic diseases
p.Asn468Ser Single submitter intellectual disability
p.Asp134Asn Single submitter Harel-Yoon syndrome
p.Asp143Tyr Single submitter Inborn genetic diseases ⚠
p.Asp372Tyr Single submitter ⚠
p.Asp460Asn Single submitter Inborn genetic diseases ⚠
p.Asp474Asn Single submitter Inborn genetic diseases
p.Gln147Arg Single submitter ⚠
p.Gln159Arg Single submitter Inborn genetic diseases ⚠
p.Gln302Arg Single submitter
p.Gln312Leu Single submitter Inborn genetic diseases
p.Gln458Pro Single submitter Harel-Yoon syndrome ⚠
p.Gln563Ter Single submitter
p.Gln564Glu Single submitter Inborn genetic diseases
p.Gln566Arg Single submitter Inborn genetic diseases
p.Gln83Arg Single submitter ⚠
p.Gln90Arg Single submitter Inborn genetic diseases ⚠
p.Glu101Ala Single submitter Harel-Yoon syndrome ⚠
p.Glu114Asp Single submitter
p.Glu114Gln Single submitter Inborn genetic diseases ⚠
p.Glu114Lys Single submitter ⚠
p.Glu142Gly Single submitter Inborn genetic diseases ⚠
p.Glu154Asp Single submitter ⚠
p.Glu161_Glu167del Single submitter Harel-Yoon syndrome
p.Glu161del Single submitter Harel-Yoon syndrome
p.Glu161Lys Single submitter Inborn genetic diseases ⚠
p.Glu167Gln Single submitter Inborn genetic diseases ⚠
p.Glu190Gln Single submitter
p.Glu192_Ala197dup Single submitter Harel-Yoon syndrome
p.Glu200Lys Single submitter Inborn genetic diseases ⚠
p.Glu287Gln Single submitter ⚠
p.Glu427Lys Single submitter Inborn genetic diseases ⚠
p.Glu469Asp Single submitter ⚠
p.Glu482Asp Single submitter ⚠
p.Glu517Lys Single submitter Inborn genetic diseases
p.Glu64Ala Single submitter Inborn genetic diseases ⚠
p.Glu66Gln Single submitter Inborn genetic diseases ⚠
p.Gly10Ser Single submitter Inborn genetic diseases ⚠
p.Gly13Ser Single submitter Inborn genetic diseases ⚠
p.Gly234Arg Single submitter Harel-Yoon syndrome ⚠
p.Gly236Val Single submitter Harel-Yoon syndrome ⚠
p.Gly280Arg Single submitter Inborn genetic diseases ⚠
p.Gly317Ala Single submitter ⚠
p.Gly32Ser Single submitter ⚠
p.Gly36Arg Single submitter ⚠
p.Gly405Ser Single submitter Inborn genetic diseases ⚠
p.Gly441Asp Single submitter Harel-Yoon syndrome ⚠
p.Gly477Val Single submitter
p.Gly500Val Single submitter Harel-Yoon syndrome ⚠
p.Gly547Arg Single submitter Harel-Yoon syndrome ⚠
p.Gly547Val Single submitter Harel-Yoon syndrome
p.Gly576Arg Single submitter Inborn genetic diseases ⚠
p.Gly580Glu Single submitter Inborn genetic diseases
p.His218Tyr Single submitter Inborn genetic diseases ⚠
p.His472Gln Single submitter ⚠
p.His472Pro Single submitter
p.His565_Gln566delinsTyrArg Single submitter
p.Ile206Asn Single submitter
p.Ile206Val Single submitter Inborn genetic diseases ⚠
p.Ile207del Single submitter
p.Ile291Val Single submitter Inborn genetic diseases ⚠
p.Ile301Thr Single submitter Inborn genetic diseases
p.Ile375Val Single submitter Inborn genetic diseases
p.Ile463Val Single submitter ⚠
p.Ile530Asn Single submitter Harel-Yoon syndrome ⚠
p.Ile530Phe Single submitter Inborn genetic diseases ⚠
p.Ile7Leu Single submitter ⚠
p.Leu150Phe Single submitter Inborn genetic diseases ⚠
p.Leu254Val Single submitter
p.Leu315Pro Single submitter ⚠
p.Leu349Val Single submitter Harel-Yoon syndrome ⚠
p.Leu417Phe Single submitter ⚠
p.Leu494Ile Single submitter Inborn genetic diseases ⚠
p.Leu533Val Single submitter
p.Leu77Met Single submitter ⚠
p.Lys135Asn Single submitter Inborn genetic diseases ⚠
p.Lys165= Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Lys183Arg Single submitter Inborn genetic diseases ⚠
p.Lys183Glu Single submitter Harel-Yoon syndrome ⚠
p.Lys214Arg Single submitter Inborn genetic diseases ⚠
p.Lys246Asn Single submitter
p.Lys246Glu Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Lys265Arg Single submitter Inborn genetic diseases
p.Lys358Asn Single submitter ⚠
p.Lys44Arg Single submitter Harel-Yoon syndrome ⚠
p.Lys568del Single submitter Harel-Yoon syndrome
p.Lys60fs Single submitter
p.Lys60Leu Single submitter
p.Lys60Met Single submitter Inborn genetic diseases ⚠
p.Lys92Arg Single submitter ⚠
p.Met169Ile Single submitter Inborn genetic diseases ⚠
p.Met169Val Single submitter Inborn genetic diseases
p.Met371Ile Single submitter Inborn genetic diseases ⚠
p.Met371Leu Single submitter Inborn genetic diseases ⚠
p.Met384Ile Single submitter ⚠
p.Met448Val Single submitter Inborn genetic diseases ⚠
p.Met525Val Single submitter Inborn genetic diseases ⚠
p.Met553Thr Single submitter Inborn genetic diseases
p.Met569Thr Single submitter Inborn genetic diseases
p.Phe274Leu Single submitter Inborn genetic diseases ⚠
p.Phe409Leu Single submitter Inborn genetic diseases ⚠
p.Phe416Cys Single submitter Inborn genetic diseases ⚠
p.Phe489Val Single submitter Harel-Yoon syndrome ⚠
p.Phe50Leu Single submitter Harel-Yoon syndrome ⚠
p.Pro18Ser Single submitter ⚠
p.Pro20Arg Single submitter Inborn genetic diseases ⚠
p.Pro23Leu Single submitter Inborn genetic diseases ⚠
p.Pro24Ser Single submitter ⚠
p.Pro282Leu Single submitter ⚠
p.Pro311Arg Single submitter Harel-Yoon syndrome
p.Pro43His Single submitter Inborn genetic diseases ⚠
p.Pro52Leu Single submitter Harel-Yoon syndrome ⚠
p.Pro583_Pro585delinsGlnProSer Single submitter
p.Pro585Ser Single submitter Inborn genetic diseases ⚠
p.Ser105Thr Single submitter Inborn genetic diseases ⚠
p.Ser343Gly Single submitter Inborn genetic diseases ⚠
p.Ser402Asn Single submitter Inborn genetic diseases ⚠
p.Ser48Arg Single submitter Inborn genetic diseases ⚠
p.Ser516Leu Single submitter Inborn genetic diseases
p.Ser526Leu Single submitter pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal ⚠
p.Thr228Met Single submitter
p.Thr242Ala Single submitter Inborn genetic diseases
p.Thr292Met Single submitter
p.Thr422= Single submitter
p.Trp244Cys Single submitter Inborn genetic diseases ⚠
p.Trp398Ter Single submitter Harel-Yoon syndrome
p.Trp461Arg Single submitter Inborn genetic diseases
p.Trp461Leu Single submitter Inborn genetic diseases
p.Tyr262Phe Single submitter ⚠
p.Tyr488Cys Single submitter Inborn genetic diseases ⚠
p.Val174Gly Single submitter Harel-Yoon syndrome ⚠
p.Val174Met Single submitter Inborn genetic diseases ⚠
p.Val241Ala Single submitter
p.Val241Leu Single submitter ⚠
p.Val259Leu Single submitter Inborn genetic diseases ⚠
p.Val535Met Single submitter
p.Arg290Cys No assertion criteria pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Asp245Asn No assertion criteria
p.Glu551Ter No assertion criteria pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
p.Val450Ala No assertion criteria Harel-Yoon syndrome ⚠