RARS2 — 1009 ClinVar variants
All ClinVar germline RARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →
52 Pathogenic · 68 Pathogenic/Likely pathogenic · 112 Likely pathogenic · 47 Conflicting · 45 Benign · 16 Benign/Likely benign · 446 Likely benign · 223 Uncertain significance
Full RARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 201
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 vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RARS2 p.Arg258Cys
Pathogenic/Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Asp515Gly
Pathogenic/Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia
-
RARS2 p.Gln12Arg
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
RARS2 p.His530Tyr
Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Met404Val
Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Val522Ile
Pathogenic/Likely pathogenic
Multiple submitters
RARS2-related disorder
-
RARS2 p.Ala8Gly
Likely pathogenic
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Ile150Thr
Likely pathogenic
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Tyr445Cys Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 21
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RARS2 p.Ala214Val Conflicting Single submitter
-
RARS2 p.Arg273Leu
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Arg333Gly
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg456Cys
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Arg469Cys
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg560Cys
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg560His
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Asn407Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Asp173Asn
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Asp306Asn Conflicting Single submitter
-
RARS2 p.Gly457Arg
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.His471Gln
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Ile9Val
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Leu570Phe
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Lys412Asn
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Met342Ile
Conflicting
Single submitter
RARS2-related disorder
-
RARS2 p.Pro546Leu
Conflicting
Single submitter
Inborn genetic diseases
-
RARS2 p.Ser82Asn
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Thr346Ile
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Thr573Ile Conflicting Single submitter
-
RARS2 p.Tyr322Cys
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
Predictors lean, ClinVar uncertain 137
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RARS2 p.Arg229Gln Uncertain significance Multiple submitters
-
RARS2 p.Arg451His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Arg456His
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg519Gly
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Asn135Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Asn89His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RARS2 p.Asp108Gly Uncertain significance Multiple submitters
-
RARS2 p.Glu370Gln
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Glu474Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RARS2 p.Gly318Glu Uncertain significance Multiple submitters
-
RARS2 p.Gly480Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.His201Asp
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
- RARS2 p.His554Asn Uncertain significance Multiple submitters
-
RARS2 p.Ile253Val
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Ile498Val
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Ile541Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Ile9Thr
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Leu440Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RARS2 p.Lys418Arg Uncertain significance Multiple submitters
- RARS2 p.Met360Thr Uncertain significance Multiple submitters
- RARS2 p.Phe377Ser Uncertain significance Multiple submitters
-
RARS2 p.Tyr190Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Tyr481Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
- RARS2 p.Val142Ala Uncertain significance Multiple submitters
-
RARS2 p.Ala237Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Ala430Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Ala8Ser Uncertain significance Single submitter
- RARS2 p.Arg146His Uncertain significance Single submitter
- RARS2 p.Arg15Gly Uncertain significance Single submitter
- RARS2 p.Arg254Gln Uncertain significance Single submitter
- RARS2 p.Arg273Cys Uncertain significance Single submitter
- RARS2 p.Arg333Gln Uncertain significance Single submitter
- RARS2 p.Arg386Gln Uncertain significance Single submitter
- RARS2 p.Arg552Gly Uncertain significance Single submitter
-
RARS2 p.Arg67Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Arg6Gly Uncertain significance Single submitter
- RARS2 p.Asn135Lys Uncertain significance Single submitter
-
RARS2 p.Asn197Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Asn338Ser Uncertain significance Single submitter
-
RARS2 p.Asn419Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Asn419Lys Uncertain significance Single submitter
- RARS2 p.Asn54Lys Uncertain significance Single submitter
- RARS2 p.Asp234Asn Uncertain significance Single submitter
-
RARS2 p.Asp264Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Asp75Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Gln104Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Gln12Glu Uncertain significance Single submitter
-
RARS2 p.Gln228His
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Gln494Leu Uncertain significance Single submitter
- RARS2 p.Gln62Leu Uncertain significance Single submitter
-
RARS2 p.Gln85Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Glu51Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Gly121Val Uncertain significance Single submitter
- RARS2 p.Gly189Asp Uncertain significance Single submitter
-
RARS2 p.Gly233Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Gly378Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Gly428Arg Uncertain significance Single submitter
- RARS2 p.Gly480Arg Uncertain significance Single submitter
-
RARS2 p.Gly4Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.His144Leu Uncertain significance Single submitter
- RARS2 p.Ile411Val Uncertain significance Single submitter
- RARS2 p.Leu122Arg Uncertain significance Single submitter
-
RARS2 p.Leu202Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Leu240Val Uncertain significance Single submitter
- RARS2 p.Leu50Ser Uncertain significance Single submitter
- RARS2 p.Leu526Pro Uncertain significance Single submitter
- RARS2 p.Leu539Gln Uncertain significance Single submitter
-
RARS2 p.Leu72Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Lys115Arg Uncertain significance Single submitter
- RARS2 p.Lys158Arg Uncertain significance Single submitter
- RARS2 p.Lys257Arg Uncertain significance Single submitter
- RARS2 p.Lys257Gln Uncertain significance Single submitter
-
RARS2 p.Lys351Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Lys362Asn
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Lys438Arg Uncertain significance Single submitter
- RARS2 p.Lys446Asn Uncertain significance Single submitter
- RARS2 p.Lys71Arg Uncertain significance Single submitter
-
RARS2 p.Lys91Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Lys99Glu Uncertain significance Single submitter
-
RARS2 p.Met176Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Met360Ile
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Met578Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Phe244Cys Uncertain significance Single submitter
-
RARS2 p.Phe358Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Phe5Ser Uncertain significance Single submitter
- RARS2 p.Pro20Leu Uncertain significance Single submitter
-
RARS2 p.Pro21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Pro307Thr Uncertain significance Single submitter
-
RARS2 p.Pro376Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Pro420Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Pro545Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Ser132Gly Uncertain significance Single submitter
- RARS2 p.Ser196Phe Uncertain significance Single submitter
- RARS2 p.Ser218Arg Uncertain significance Single submitter
- RARS2 p.Ser218Asn Uncertain significance Single submitter
-
RARS2 p.Ser239Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Ser29Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Ser455Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Ser472Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Ser523Gly Uncertain significance Single submitter
- RARS2 p.Thr296Met Uncertain significance Single submitter
- RARS2 p.Thr312Ile Uncertain significance Single submitter
-
RARS2 p.Thr341Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Thr414Ser Uncertain significance Single submitter
- RARS2 p.Thr476Ile Uncertain significance Single submitter
- RARS2 p.Thr476Pro Uncertain significance Single submitter
- RARS2 p.Thr87Ser Uncertain significance Single submitter
- RARS2 p.Trp449Cys Uncertain significance Single submitter
-
RARS2 p.Tyr344His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Val101Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Val16Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Val205Phe Uncertain significance Single submitter
- RARS2 p.Val235Glu Uncertain significance Single submitter
-
RARS2 p.Val255Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Val345Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Val375Met Uncertain significance Single submitter
- RARS2 p.Val380Ile Uncertain significance Single submitter
-
RARS2 p.Val390Ile
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Val46Leu Uncertain significance Single submitter
-
RARS2 p.Ala213Thr
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Asn486Asp
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Asp41Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Cys372Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Gln406Glu
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Glu117Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Glu37Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
- RARS2 p.Glu507Lys Uncertain significance No assertion criteria
-
RARS2 p.Gly303Glu
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Ile343Val
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Leu238Arg
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Leu397Ser
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Leu499Pro
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Ser302Tyr
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Thr148Ser
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Tyr112His
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Val559Ile
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
-
RARS2 p.Val88Ile
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
Predictors split 34
The independent predictors disagree with each other — read with care.
-
RARS2 p.Ala10Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Ala10Val
Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Ala2Val
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg315Gln
Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Asp246Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Leu301Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Phe392Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RARS2 p.Thr324Ala
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 6
-
RARS2 p.Ala213Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Ala328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Arg245Gln
Conflicting
Single submitter
Inborn genetic diseases
- RARS2 p.Arg254Trp Uncertain significance Single submitter
-
RARS2 p.Arg258His
Conflicting
Single submitter
RARS2-related disorder
-
RARS2 p.Arg273Pro
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Arg7Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
- RARS2 p.Asp506Glu Uncertain significance Single submitter
- RARS2 p.Gly109Val Uncertain significance Single submitter
- RARS2 p.Gly305Asp Uncertain significance Single submitter
- RARS2 p.His353Tyr Uncertain significance Single submitter
-
RARS2 p.Ile166Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Leu232Pro Uncertain significance Single submitter
- RARS2 p.Leu259Val Uncertain significance Single submitter
-
RARS2 p.Lys138Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Lys384Asn
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Met342Val
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Met404Lys
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Phe185Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Phe188Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RARS2 p.Phe5Leu
Conflicting
Single submitter
Inborn genetic diseases
- RARS2 p.Ser239Pro Uncertain significance Single submitter
-
RARS2 p.Ser448Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RARS2 p.Ser79Ile Uncertain significance Single submitter
-
RARS2 p.Thr148Ala
Conflicting
Single submitter
pontocerebellar hypoplasia type 6
-
RARS2 p.Ile92Thr
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 6
All RARS2 variants
Pathogenic 52
- p.Gln208Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Lys281delinsAsnLeuLysArgSerTer Multiple submitters pontocerebellar hypoplasia type 6
- p.Met1Ile Multiple submitters pontocerebellar hypoplasia
- c.1305+1G>A Single submitter pontocerebellar hypoplasia type 6
- c.297+1del Single submitter
- c.297+1G>A Single submitter
- c.298-1G>A Single submitter pontocerebellar hypoplasia type 6
- c.298-2570_395+341del Single submitter pontocerebellar hypoplasia type 6
- c.395+1del Single submitter
- p.Ala213fs Single submitter
- p.Arg167fs Single submitter Inborn genetic diseases
- p.Arg333fs Single submitter
- p.Arg469delinsSerProAspValTer Single submitter
- p.Asn152fs Single submitter
- p.Asn23fs Single submitter
- p.Asp264fs Single submitter
- p.Cys11fs Single submitter
- p.Gln195Ter Single submitter
- p.Gln224Ter Single submitter
- p.Gln35fs Single submitter
- p.Gln406Ter Single submitter
- p.Gln421Ter Single submitter pontocerebellar hypoplasia type 6
- p.Gln62Ter Single submitter
- p.Gln64Ter Single submitter
- p.Glu117fs Single submitter
- p.Glu265fs Single submitter pontocerebellar hypoplasia type 6
- p.Glu425fs Single submitter
- p.Gly143Ter Single submitter
- p.Gly233fs Single submitter
- p.Gly305fs Single submitter
- p.Gly382fs Single submitter
- p.Gly388fs Single submitter Inborn genetic diseases
- p.Gly460fs Single submitter
- p.Gly478Ter Single submitter
- p.His141Arg Single submitter pontocerebellar hypoplasia type 6
- p.Ile149fs Single submitter
- p.Leu463fs Single submitter
- p.Lys217Ter Single submitter
- p.Met176fs Single submitter
- p.Met1Lys Single submitter
- p.Met1Pro Single submitter
- p.Met314fs Single submitter
- p.Ser133Ter Single submitter
- p.Ser270Ter Single submitter
- p.Ser320fs Single submitter
- p.Ser495fs Single submitter
- p.Thr26_Ser27insTer Single submitter
- p.Trp241Ter Single submitter
- p.Tyr344Ter Single submitter
- p.Tyr524fs Single submitter
- p.Val88fs Single submitter
- p.Met342Thr No assertion criteria pontocerebellar hypoplasia type 6
Pathogenic/Likely pathogenic 68
- c.110+5A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1237+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.1650+1del Multiple submitters pontocerebellar hypoplasia type 6
- c.1650+1G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.1651-2A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.297+1G>C Multiple submitters pontocerebellar hypoplasia
- c.297+1G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.297+2T>G Multiple submitters pontocerebellar hypoplasia type 6
- c.613-3927C>T Multiple submitters pontocerebellar hypoplasia
- c.879-1G>C Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg146fs Multiple submitters pontocerebellar hypoplasia
- p.Arg229Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg254fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg258Cys Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg315Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg333Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg386Ter Multiple submitters Inborn genetic diseases
- p.Arg469His Multiple submitters pontocerebellar hypoplasia
- p.Arg519fs Multiple submitters pontocerebellar hypoplasia
- p.Arg94fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Asn93fs Multiple submitters RARS2-related disorder
- p.Asp234fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Asp300fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Asp515Gly Multiple submitters pontocerebellar hypoplasia ⚠
- p.Asp53_Asn54insTer Multiple submitters pontocerebellar hypoplasia type 6
- p.Cys3Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln12Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln12Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln277fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln277Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln381Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln43Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln464Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln494fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln85Ter Multiple submitters
- p.Glu159fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Glu212fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Glu416Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Glu475Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Glu95fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Gly365_Tyr366insTer Multiple submitters pontocerebellar hypoplasia type 6
- p.His353fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Ile310fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu24fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu280fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu280Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu283Gln Multiple submitters pontocerebellar hypoplasia
- p.Leu440Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu528fs Multiple submitters RARS2-related disorder
- p.Lys158del Multiple submitters pontocerebellar hypoplasia
- p.Lys352fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Lys438Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Met1Arg Multiple submitters pontocerebellar hypoplasia
- p.Met1Leu Multiple submitters pontocerebellar hypoplasia type 6
- p.Met1Thr Multiple submitters pontocerebellar hypoplasia type 6
- p.Met1Val Multiple submitters Inborn genetic diseases
- p.Phe140Cys Multiple submitters Inborn genetic diseases
- p.Phe153fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Phe447fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Phe477fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Ser239Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Ser57Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Thr538fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Trp241fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Tyr322fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Val461fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Val522Ile Multiple submitters RARS2-related disorder ⚠
- p.Val78fs Multiple submitters pontocerebellar hypoplasia type 6
Likely pathogenic 112
- c.1035+2T>G Multiple submitters pontocerebellar hypoplasia type 6
- c.111-2A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1113-2A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1237+1G>C Multiple submitters pontocerebellar hypoplasia type 6
- c.1238-2A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1415+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.1415+1G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.1415+2T>C Multiple submitters pontocerebellar hypoplasia type 6
- c.1511+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.1512-1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.1586+1G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.1586+3A>T Multiple submitters pontocerebellar hypoplasia type 6
- c.36+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.36+1G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.36+2T>A Multiple submitters pontocerebellar hypoplasia type 6
- c.395+1_395+9del Multiple submitters pontocerebellar hypoplasia type 6
- c.395+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.536-1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.771+2T>G Multiple submitters pontocerebellar hypoplasia type 6
- c.772-1G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.878+5G>T Multiple submitters pontocerebellar hypoplasia type 6
- c.879-2del Multiple submitters pontocerebellar hypoplasia type 6
- c.974+1G>A Multiple submitters pontocerebellar hypoplasia type 6
- p.Ala10Val Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg15fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Arg315Gln Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg6Cys Multiple submitters pontocerebellar hypoplasia type 6
- p.Asp543fs Multiple submitters pontocerebellar hypoplasia
- p.Gln491Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln517Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.His530Tyr Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Ile127fs Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu24Ter Multiple submitters pontocerebellar hypoplasia type 6
- p.Met404Val Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- c.1035+1G>T Single submitter
- c.1036-1G>A Single submitter pontocerebellar hypoplasia type 6
- c.1037_1040dup Single submitter pontocerebellar hypoplasia type 6
- c.110+2T>G Single submitter pontocerebellar hypoplasia type 6
- c.1112+2T>A Single submitter
- c.1113-21A>C Single submitter
- c.1238-28T>G Single submitter pontocerebellar hypoplasia type 6
- c.1305+2T>C Single submitter pontocerebellar hypoplasia type 6
- c.1306-1G>A Single submitter pontocerebellar hypoplasia type 6
- c.1416-1G>A Single submitter
- c.1416-1G>C Single submitter pontocerebellar hypoplasia type 6
- c.1416-2A>C Single submitter pontocerebellar hypoplasia type 6
- c.1511+2T>C Single submitter
- c.1512-2A>C Single submitter
- c.1586+1G>A Single submitter
- c.1587-1G>C Single submitter
- c.214-2A>G Single submitter pontocerebellar hypoplasia type 6
- c.37-12_44del Single submitter
- c.395+2T>C Single submitter
- c.396-1G>A Single submitter
- c.396-2A>G Single submitter
- c.451+1G>A Single submitter pontocerebellar hypoplasia type 6
- c.451+4A>G Single submitter
- c.452-1G>A Single submitter pontocerebellar hypoplasia type 6
- c.535+1G>C Single submitter
- c.535+2T>G Single submitter pontocerebellar hypoplasia type 6
- c.610_612+2del Single submitter pontocerebellar hypoplasia type 6
- c.612+2T>A Single submitter
- c.612+2T>G Single submitter pontocerebellar hypoplasia type 6
- c.613-1G>A Single submitter
- c.613-2A>C Single submitter pontocerebellar hypoplasia type 6
- c.771+1G>A Single submitter
- c.771+1G>T Single submitter
- c.879-2A>G Single submitter pontocerebellar hypoplasia type 6
- p.Ala2fs Single submitter pontocerebellar hypoplasia type 6
- p.Ala369fs Single submitter RARS2-related disorder
- p.Ala409_Ser410insTer Single submitter pontocerebellar hypoplasia type 6
- p.Ala409fs Single submitter pontocerebellar hypoplasia type 6
- p.Ala8Gly Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Arg469fs Single submitter pontocerebellar hypoplasia type 6
- p.Asn18fs Single submitter pontocerebellar hypoplasia type 6
- p.Asn419fs Single submitter pontocerebellar hypoplasia type 6
- p.Asp41fs Single submitter pontocerebellar hypoplasia type 6
- p.Asp458fs Single submitter pontocerebellar hypoplasia type 6
- p.Asp53fs Single submitter pontocerebellar hypoplasia type 6
- p.Gln124fs Single submitter pontocerebellar hypoplasia type 6
- p.Gln177Ter Single submitter pontocerebellar hypoplasia type 6
- p.Gln200Ter Single submitter pontocerebellar hypoplasia type 6
- p.Gln350Ter Single submitter pontocerebellar hypoplasia type 6
- p.Gln517fs Single submitter pontocerebellar hypoplasia type 6
- p.Glu159Ter Single submitter pontocerebellar hypoplasia type 6
- p.Glu474fs Single submitter pontocerebellar hypoplasia type 6
- p.Glu475fs Single submitter pontocerebellar hypoplasia type 6
- p.Gly109fs Single submitter
- p.Gly365Ter Single submitter pontocerebellar hypoplasia type 6
- p.Gly439fs Single submitter pontocerebellar hypoplasia type 6
- p.Ile150Thr Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Leu247Ter Single submitter pontocerebellar hypoplasia type 6
- p.Leu321Phe Single submitter pontocerebellar hypoplasia type 6
- p.Leu442fs Single submitter pontocerebellar hypoplasia type 6
- p.Leu539Pro Single submitter
- p.Lys111fs Single submitter pontocerebellar hypoplasia type 6
- p.Lys418fs Single submitter pontocerebellar hypoplasia type 6
- p.Lys511fs Single submitter pontocerebellar hypoplasia type 6
- p.Lys537Ter Single submitter pontocerebellar hypoplasia type 6
- p.Pro20fs Single submitter pontocerebellar hypoplasia type 6
- p.Pro59fs Single submitter pontocerebellar hypoplasia type 6
- p.Ser116delinsThrTyrTer Single submitter pontocerebellar hypoplasia type 6
- p.Ser116fs Single submitter pontocerebellar hypoplasia type 6
- p.Ser497Ter Single submitter pontocerebellar hypoplasia
- p.Ser512Ter Single submitter pontocerebellar hypoplasia type 6
- p.Ser523fs Single submitter pontocerebellar hypoplasia type 6
- p.Trp241Arg Single submitter
- p.Tyr206fs Single submitter pontocerebellar hypoplasia type 6
- p.Tyr266Ter Single submitter pontocerebellar hypoplasia type 6
- p.Tyr445Cys Single submitter ⚠
- p.Val380fs Single submitter pontocerebellar hypoplasia type 6
- p.Val508fs Single submitter pontocerebellar hypoplasia type 6
Conflicting classifications of pathogenicity 47
- c.1036-9C>T Single submitter pontocerebellar hypoplasia type 6
- c.1306-8C>T Single submitter pontocerebellar hypoplasia type 6
- c.1512-4T>C Single submitter pontocerebellar hypoplasia type 6
- c.1512-6T>C Single submitter Inborn genetic diseases
- c.1650+5G>A Single submitter pontocerebellar hypoplasia type 6
- c.213+5G>A Single submitter
- c.36+4T>C Single submitter Inborn genetic diseases
- c.772-4_772-3del Single submitter pontocerebellar hypoplasia type 6
- c.975-14C>T Single submitter pontocerebellar hypoplasia type 6
- c.-2A>G Single submitter pontocerebellar hypoplasia type 6
- p.Ala214Val Single submitter ⚠
- p.Ala69= Single submitter pontocerebellar hypoplasia type 6
- p.Arg245Gln Single submitter Inborn genetic diseases ⚠
- p.Arg245Trp Single submitter pontocerebellar hypoplasia type 6
- p.Arg258His Single submitter RARS2-related disorder ⚠
- p.Arg273Leu Single submitter Inborn genetic diseases ⚠
- p.Arg273Pro Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Arg333Gly Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Arg456Cys Single submitter Inborn genetic diseases ⚠
- p.Arg469Cys Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Arg560Cys Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Arg560His Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Asn152= Single submitter pontocerebellar hypoplasia type 6
- p.Asn407Lys Single submitter Inborn genetic diseases ⚠
- p.Asp173Asn Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Asp306Asn Single submitter ⚠
- p.Gly457Arg Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.His471Gln Single submitter Inborn genetic diseases ⚠
- p.Ile9Val Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Leu570Phe Single submitter Inborn genetic diseases ⚠
- p.Lys412Asn Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Met342Ile Single submitter RARS2-related disorder ⚠
- p.Met342Val Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Met404Lys Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Phe5Leu Single submitter Inborn genetic diseases ⚠
- p.Pro546Leu Single submitter Inborn genetic diseases ⚠
- p.Ser443Pro Single submitter RARS2-related disorder
- p.Ser82Asn Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Thr148Ala Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Thr26= Single submitter pontocerebellar hypoplasia type 6
- p.Thr296= Single submitter pontocerebellar hypoplasia type 6
- p.Thr346Ile Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Thr573Ile Single submitter ⚠
- p.Tyr252Asn Single submitter Lennox-Gastaut syndrome
- p.Tyr322Cys Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Val136Ala Single submitter pontocerebellar hypoplasia type 6
- p.Val261= Single submitter pontocerebellar hypoplasia type 6
Benign 45
- c.111-21C>T Multiple submitters pontocerebellar hypoplasia type 6
- c.1237+38G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.1512-43T>C Multiple submitters pontocerebellar hypoplasia type 6
- c.451+140G>A Multiple submitters pontocerebellar hypoplasia type 6
- c.452-21A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.878+19T>G Multiple submitters
- c.974+90T>C Multiple submitters pontocerebellar hypoplasia type 6
- c.975-43G>A Multiple submitters pontocerebellar hypoplasia type 6
- p.Lys52Ile Multiple submitters pontocerebellar hypoplasia type 6
- p.Val235Met Multiple submitters pontocerebellar hypoplasia type 6
- c.111-303C>A Single submitter
- c.1237+169T>C Single submitter
- c.1237+16dup Single submitter
- c.1238-250_1238-249del Single submitter
- c.1238-262_1238-258del Single submitter
- c.1238-285TA[7] Single submitter
- c.1238-293T>C Single submitter
- c.1650+180A>G Single submitter
- c.1650+208C>T Single submitter
- c.37-336A>G Single submitter
- c.37-3del Single submitter
- c.396-12dup Single submitter
- c.396-243C>G Single submitter
- c.396-288G>T Single submitter
- c.396-5del Single submitter
- c.452-83_452-82insC Single submitter
- c.535+129T>C Single submitter
- c.535+130del Single submitter
- c.536-115C>T Single submitter
- c.536-157A>T Single submitter
- c.612+199C>T Single submitter
- c.613-3988G>A Single submitter
- c.613-3dup Single submitter
- c.613-4111_613-4110insGATAA Single submitter
- c.613-4137C>T Single submitter
- c.771+300T>G Single submitter
- c.772-251del Single submitter
- c.879-12del Single submitter
- c.879-173G>A Single submitter
- c.975-201T>C Single submitter
- c.-34T>G Single submitter
- c.*101del Single submitter
- c.*101dup Single submitter
- c.*115G>A Single submitter
- c.*241C>T Single submitter
Benign/Likely benign 16
- c.111-19T>G Multiple submitters pontocerebellar hypoplasia type 6
- c.111-20G>A Multiple submitters
- c.1305+18C>T Multiple submitters pontocerebellar hypoplasia type 6
- c.396-13A>T Multiple submitters
- c.452-22TA[2] Multiple submitters
- c.878+17A>G Multiple submitters
- c.879-6T>C Multiple submitters pontocerebellar hypoplasia type 6
- c.-13C>T Multiple submitters pontocerebellar hypoplasia type 6
- c.-8A>C Multiple submitters pontocerebellar hypoplasia type 6
- p.Gln242= Multiple submitters pontocerebellar hypoplasia type 6
- p.Ile331Val Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu202= Multiple submitters pontocerebellar hypoplasia type 6
- p.Leu470= Multiple submitters pontocerebellar hypoplasia type 6
- p.Lys291Arg Multiple submitters pontocerebellar hypoplasia type 6
- p.Lys568= Multiple submitters pontocerebellar hypoplasia type 6
- p.Pro21= Multiple submitters pontocerebellar hypoplasia type 6
Likely benign 446
Showing the top 300 by review status; the full set is in the sitemap.
- c.111-15G>A Multiple submitters
- c.111-6C>T Multiple submitters
- c.1238-43C>T Multiple submitters
- c.1587-10C>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1587-9C>G Multiple submitters
- c.1651-14_1651-10del Multiple submitters
- c.1651-87G>A Multiple submitters
- c.297+16T>C Multiple submitters
- c.395+14C>T Multiple submitters
- c.535+60T>C Multiple submitters pontocerebellar hypoplasia type 6
- c.536-105A>G Multiple submitters
- c.536-7A>G Multiple submitters
- c.772-3del Multiple submitters pontocerebellar hypoplasia type 6
- c.878+94C>T Multiple submitters
- c.879-10G>A Multiple submitters
- p.Arg67= Multiple submitters
- p.Asp506= Multiple submitters pontocerebellar hypoplasia type 6
- p.Asp515= Multiple submitters
- p.Cys3= Multiple submitters
- p.Gln359= Multiple submitters
- p.Gln421= Multiple submitters
- p.Ile106= Multiple submitters
- p.Leu230= Multiple submitters
- p.Leu429= Multiple submitters
- p.Leu432= Multiple submitters
- p.Thr148= Multiple submitters pontocerebellar hypoplasia type 6
- c.1035+10C>A Single submitter
- c.1035+10C>T Single submitter
- c.1035+11A>C Single submitter
- c.1035+11A>G Single submitter
- c.1035+16A>C Single submitter
- c.1035+18A>T Single submitter
- c.1035+295T>C Single submitter
- c.1036-136T>C Single submitter
- c.1036-14A>G Single submitter
- c.1036-153T>A Single submitter
- c.1036-16A>G Single submitter
- c.1036-18A>G Single submitter
- c.1036-23_1036-19del Single submitter
- c.1036-4C>A Single submitter
- c.1036-5C>T Single submitter
- c.110+10A>T Single submitter
- c.110+11A>T Single submitter
- c.110+13AC[3] Single submitter
- c.110+13dup Single submitter
- c.110+18T>C Single submitter
- c.110+19del Single submitter
- c.110+294C>T Single submitter
- c.110+8A>G Single submitter
- c.110+9T>C Single submitter
- c.111-118A>G Single submitter
- c.111-12G>A Single submitter
- c.111-14A>G Single submitter
- c.111-15G>C Single submitter
- c.111-16C>T Single submitter
- c.111-195T>G Single submitter
- c.111-41T>A Single submitter
- c.111-50C>A Single submitter
- c.1112+10G>A Single submitter
- c.1112+11C>G Single submitter
- c.1112+12A>C Single submitter
- c.1112+12A>G Single submitter
- c.1112+16T>C Single submitter
- c.1113-10A>G Single submitter
- c.1113-11dup Single submitter
- c.1113-14G>T Single submitter
- c.1113-16A>C Single submitter
- c.1113-19T>C Single submitter
- c.1113-4T>G Single submitter
- c.1113-7C>T Single submitter
- c.1237+10G>T Single submitter
- c.1237+19T>C Single submitter
- c.1237+36dup Single submitter
- c.1237+9A>C Single submitter
- c.1238-17G>T Single submitter
- c.1238-19C>A Single submitter
- c.1238-20G>A Single submitter
- c.1305+12C>T Single submitter
- c.1305+14C>T Single submitter
- c.1305+17_1305+20del Single submitter
- c.1305+17A>C Single submitter
- c.1305+17A>G Single submitter
- c.1305+18_1305+19insTAT Single submitter
- c.1305+19C>T Single submitter
- c.1306-11T>C Single submitter
- c.1306-12C>G Single submitter
- c.1306-15_1306-14insAAT Single submitter
- c.1306-18T>C Single submitter
- c.1306-4T>G Single submitter
- c.1306-7G>A Single submitter
- c.1415+10G>C Single submitter
- c.1415+12C>G Single submitter
- c.1415+143dup Single submitter
- c.1415+14G>A Single submitter
- c.1415+14G>T Single submitter
- c.1415+16A>C Single submitter
- c.1415+16A>G Single submitter
- c.1415+17G>C Single submitter
- c.1415+18G>A Single submitter
- c.1415+20A>G Single submitter
- c.1415+8G>T Single submitter
- c.1416-152C>A Single submitter
- c.1416-18_1416-13del Single submitter
- c.1416-18C>T Single submitter
- c.1416-6G>C Single submitter
- c.1416-8_1416-7del Single submitter
- c.1416-8T>C Single submitter
- c.1416-9T>C Single submitter
- c.1511+15A>G Single submitter
- c.1511+18G>A Single submitter
- c.1511+18G>C Single submitter
- c.1511+6_1511+8del Single submitter
- c.1511+7T>C Single submitter
- c.1512-10C>T Single submitter
- c.1512-13T>C Single submitter
- c.1512-14C>G Single submitter
- c.1512-14del Single submitter
- c.1512-15C>T Single submitter
- c.1512-18G>A Single submitter
- c.1512-19T>C Single submitter
- c.1512-253G>A Single submitter
- c.1512-7C>A Single submitter
- c.1512-8T>A Single submitter
- c.1512-9_1512-7del Single submitter
- c.1586+11A>G Single submitter
- c.1586+11dup Single submitter
- c.1586+16C>T Single submitter
- c.1586+19G>A Single submitter
- c.1586+5_1586+12dup Single submitter
- c.1586+873C>G Single submitter
- c.1586+893T>A Single submitter
- c.1586+8A>G Single submitter
- c.1587-10C>T Single submitter
- c.1587-12T>C Single submitter
- c.1587-17del Single submitter
- c.1587-18del Single submitter
- c.1587-19T>C Single submitter
- c.1587-20T>C Single submitter
- c.1587-7G>A Single submitter pontocerebellar hypoplasia type 6
- c.1587-7G>C Single submitter
- c.1587-9del Single submitter
- c.1650+13G>C Single submitter
- c.1650+8A>G Single submitter
- c.1650+8A>T Single submitter
- c.1650+9T>C Single submitter
- c.1651-12T>C Single submitter
- c.1651-16T>A Single submitter
- c.1651-19T>G Single submitter
- c.1651-31A>G Single submitter
- c.1651-8T>C Single submitter
- c.213+10C>T Single submitter
- c.213+14A>C Single submitter
- c.213+15T>G Single submitter
- c.213+18T>C Single submitter
- c.213+19C>G Single submitter
- c.213+19C>T Single submitter
- c.213+9G>C Single submitter
- c.214-122G>A Single submitter
- c.214-14T>C Single submitter
- c.214-15A>T Single submitter
- c.214-18G>A Single submitter
- c.297+11G>A Single submitter
- c.297+15A>G Single submitter
- c.297+18del Single submitter
- c.297+18T>C Single submitter
- c.297+7A>G Single submitter
- c.298-13C>G Single submitter
- c.298-18C>T Single submitter
- c.298-19A>G Single submitter
- c.298-262_298-259del Single submitter
- c.298-4T>G Single submitter
- c.298-8A>C Single submitter
- c.36+10C>T Single submitter
- c.36+11C>T Single submitter
- c.36+13G>A Single submitter
- c.36+15G>A Single submitter
- c.36+16C>A Single submitter
- c.36+16C>G Single submitter
- c.36+16C>T Single submitter
- c.36+17_36+39del Single submitter
- c.36+17G>C Single submitter
- c.36+193T>A Single submitter
- c.36+20C>T Single submitter
- c.36+283G>C Single submitter
- c.36+7A>G Single submitter
- c.36+8T>C Single submitter
- c.36+9C>A Single submitter
- c.36+9C>G Single submitter pontocerebellar hypoplasia type 6
- c.36+9C>T Single submitter
- c.37-12T>C Single submitter
- c.37-13T>A Single submitter
- c.37-15_37-14del Single submitter
- c.37-15C>G Single submitter
- c.37-16T>C Single submitter
- c.37-19T>C Single submitter
- c.37-19T>G Single submitter
- c.37-20_37-19del Single submitter
- c.37-304del Single submitter
- c.37-4T>C Single submitter
- c.37-89A>G Single submitter
- c.395+10C>T Single submitter
- c.395+11_395+12insT Single submitter
- c.395+11A>G Single submitter
- c.395+11A>T Single submitter
- c.395+12C>T Single submitter
- c.395+13C>A Single submitter
- c.395+14C>G Single submitter
- c.395+15C>A Single submitter
- c.395+19T>G Single submitter
- c.395+98_395+105del Single submitter
- c.395+9G>A Single submitter
- c.396-105A>G Single submitter
- c.396-12T>A Single submitter
- c.396-13A>G Single submitter
- c.396-16C>T Single submitter
- c.396-8T>C Single submitter
- c.396-9T>C Single submitter
- c.451+10T>C Single submitter
- c.451+12G>A Single submitter
- c.451+12G>C Single submitter
- c.451+19A>G Single submitter
- c.451+9T>C Single submitter
- c.452-19A>G Single submitter
- c.452-299G>A Single submitter
- c.535+8C>T Single submitter
- c.535+9A>G Single submitter
- c.535+9A>T Single submitter
- c.536-10A>G Single submitter
- c.536-12T>C Single submitter
- c.536-16C>T Single submitter
- c.536-17A>G Single submitter
- c.536-18T>C Single submitter
- c.536-19T>C Single submitter
- c.536-6T>C Single submitter
- c.536-8C>T Single submitter
- c.612+11A>G Single submitter
- c.612+12A>G Single submitter
- c.612+8G>A Single submitter
- c.612+9G>T Single submitter
- c.613-10G>A Single submitter
- c.613-10G>T Single submitter
- c.613-13A>G Single submitter
- c.613-15C>T Single submitter
- c.613-18G>A Single submitter
- c.613-48A>G Single submitter
- c.613-7C>T Single submitter
- c.613-9T>C Single submitter
- c.771+10G>A Single submitter
- c.771+11A>C Single submitter
- c.771+11A>G Single submitter
- c.771+14C>T Single submitter
- c.771+18C>G Single submitter
- c.771+19T>A Single submitter
- c.771+19T>G Single submitter
- c.771+7G>T Single submitter
- c.772-10A>T Single submitter
- c.772-11A>C Single submitter
- c.772-15del Single submitter
- c.772-16T>A Single submitter
- c.772-16T>C Single submitter
- c.772-20T>C Single submitter
- c.772-4T>C Single submitter
- c.772-4T>G Single submitter
- c.878+10G>A Single submitter
- c.878+12T>C Single submitter
- c.878+16T>C Single submitter
- c.878+17A>C Single submitter
- c.878+17dup Single submitter
- c.878+7T>C Single submitter
- c.879-11C>T Single submitter
- c.879-17C>A Single submitter
- c.879-17C>G Single submitter
- c.974+10C>G Single submitter
- c.974+14G>C Single submitter
- c.974+18G>A Single submitter
- c.974+19G>T Single submitter
- c.974+8G>A Single submitter
- c.974+8G>T Single submitter pontocerebellar hypoplasia type 6
- c.975-13C>T Single submitter
- c.975-15G>A Single submitter
- c.975-178dup Single submitter
- c.975-18A>C Single submitter
- c.975-212C>G Single submitter
- c.-12G>A Single submitter
- c.*110G>A Single submitter
- c.*55G>T Single submitter
- p.Ala2= Single submitter
- p.Ala220= Single submitter
- p.Ala323Val Single submitter
- p.Ala328= Single submitter
- p.Ala424= Single submitter
- p.Ala468= Single submitter
- p.Ala488= Single submitter
- p.Ala532= Single submitter
- p.Ala558= Single submitter
- p.Ala564= Single submitter pontocerebellar hypoplasia type 6
- p.Ala8= Single submitter
- p.Arg15= Single submitter
- p.Arg229= Single submitter
- p.Arg245= Single submitter pontocerebellar hypoplasia type 6
Uncertain significance 223
- c.1036-5C>A Multiple submitters
- c.1511+3A>G Multiple submitters pontocerebellar hypoplasia type 6
- c.1511+4T>G Multiple submitters Inborn genetic diseases
- c.1650+4C>T Multiple submitters
- c.536-5G>A Multiple submitters pontocerebellar hypoplasia type 6
- p.Ala10Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala2Val Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg229Gln Multiple submitters ⚠
- p.Arg451His Multiple submitters Inborn genetic diseases ⚠
- p.Arg456His Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg519Gly Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Arg7Cys Multiple submitters Inborn genetic diseases
- p.Asn135Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn89His Multiple submitters Inborn genetic diseases ⚠
- p.Asp108Gly Multiple submitters ⚠
- p.Asp246Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp506Asn Multiple submitters Inborn genetic diseases
- p.Gln491= Multiple submitters pontocerebellar hypoplasia type 6
- p.Glu370Gln Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Glu474Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly318Glu Multiple submitters ⚠
- p.Gly480Glu Multiple submitters Inborn genetic diseases ⚠
- p.His163Arg Multiple submitters pontocerebellar hypoplasia type 6
- p.His201Asp Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.His554Asn Multiple submitters ⚠
- p.Ile253Val Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Ile498Val Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Ile541Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile9Thr Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Leu301Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu440Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys418Arg Multiple submitters ⚠
- p.Met360Thr Multiple submitters ⚠
- p.Phe377Ser Multiple submitters ⚠
- p.Phe392Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe42Ile Multiple submitters pontocerebellar hypoplasia type 6
- p.Thr324Ala Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Tyr190Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr481Cys Multiple submitters pontocerebellar hypoplasia type 6 ⚠
- p.Val142Ala Multiple submitters ⚠
- c.111-201_111-8del Single submitter
- c.1305+20T>C Single submitter
- c.1306-11T>A Single submitter
- c.1415+6A>G Single submitter
- c.1511+75A>G Single submitter pontocerebellar hypoplasia type 6
- c.1511+8_1511+10del Single submitter
- c.1651-12T>G Single submitter
- c.213+4C>T Single submitter
- c.36+93G>A Single submitter pontocerebellar hypoplasia type 6
- c.395+3G>T Single submitter
- c.536-15G>A Single submitter
- c.613-7C>G Single submitter
- c.878+13T>G Single submitter pontocerebellar hypoplasia type 6
- c.878+3A>G Single submitter
- c.878+5del Single submitter
- c.879-13T>C Single submitter pontocerebellar hypoplasia type 6
- c.-1C>G Single submitter
- c.-3G>T Single submitter
- p.Ala213Gly Single submitter Inborn genetic diseases ⚠
- p.Ala237Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Thr Single submitter
- p.Ala328Ser Single submitter Inborn genetic diseases ⚠
- p.Ala430Thr Single submitter Inborn genetic diseases ⚠
- p.Ala8Ser Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg254Pro Single submitter
- p.Arg254Trp Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg333Gln Single submitter ⚠
- p.Arg386Gln Single submitter ⚠
- p.Arg552Gly Single submitter ⚠
- p.Arg560Leu Single submitter
- p.Arg67Lys Single submitter Inborn genetic diseases ⚠
- p.Arg6Gly Single submitter ⚠
- p.Arg7Ser Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Asn135Lys Single submitter ⚠
- p.Asn197Ser Single submitter Inborn genetic diseases ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn419Asp Single submitter Inborn genetic diseases ⚠
- p.Asn419Lys Single submitter ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asp234Asn Single submitter ⚠
- p.Asp264Asn Single submitter Inborn genetic diseases ⚠
- p.Asp444Ala Single submitter pontocerebellar hypoplasia type 6
- p.Asp506Glu Single submitter ⚠
- p.Asp75Gly Single submitter Inborn genetic diseases ⚠
- p.Cys3Trp Single submitter
- p.Cys576fs Single submitter pontocerebellar hypoplasia type 6
- p.Gln104del Single submitter
- p.Gln104Glu Single submitter Inborn genetic diseases ⚠
- p.Gln12Glu Single submitter ⚠
- p.Gln228His Single submitter Inborn genetic diseases ⚠
- p.Gln494Leu Single submitter ⚠
- p.Gln62Leu Single submitter ⚠
- p.Gln64fs Single submitter pontocerebellar hypoplasia type 6
- p.Gln85Glu Single submitter Inborn genetic diseases ⚠
- p.Glu159del Single submitter
- p.Glu51Gly Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Gly109Val Single submitter ⚠
- p.Gly121Val Single submitter ⚠
- p.Gly172= Single submitter
- p.Gly189Asp Single submitter ⚠
- p.Gly233Ser Single submitter Inborn genetic diseases ⚠
- p.Gly305Asp Single submitter ⚠
- p.Gly378Val Single submitter Inborn genetic diseases ⚠
- p.Gly382Glu Single submitter
- p.Gly428Arg Single submitter ⚠
- p.Gly480Arg Single submitter ⚠
- p.Gly4Arg Single submitter Inborn genetic diseases ⚠
- p.His144Leu Single submitter ⚠
- p.His201Arg Single submitter pontocerebellar hypoplasia type 6
- p.His353Tyr Single submitter ⚠
- p.Ile166Met Single submitter Inborn genetic diseases ⚠
- p.Ile411Val Single submitter ⚠
- p.Ile434del Single submitter pontocerebellar hypoplasia type 6
- p.Leu114= Single submitter pontocerebellar hypoplasia type 6
- p.Leu122Arg Single submitter ⚠
- p.Leu202Arg Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Leu232Pro Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu259Val Single submitter ⚠
- p.Leu50Ser Single submitter ⚠
- p.Leu526Pro Single submitter ⚠
- p.Leu539Gln Single submitter ⚠
- p.Leu72Val Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Lys115Arg Single submitter ⚠
- p.Lys138Arg Single submitter Inborn genetic diseases ⚠
- p.Lys158Arg Single submitter ⚠
- p.Lys257Arg Single submitter ⚠
- p.Lys257Gln Single submitter ⚠
- p.Lys351Glu Single submitter Inborn genetic diseases ⚠
- p.Lys362Asn Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Lys384Asn Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Lys438Arg Single submitter ⚠
- p.Lys446Asn Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Lys91Arg Single submitter Inborn genetic diseases ⚠
- p.Lys99Glu Single submitter ⚠
- p.Met176Val Single submitter Inborn genetic diseases ⚠
- p.Met360Ile Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Met578Thr Single submitter Inborn genetic diseases ⚠
- p.Phe185Leu Single submitter Inborn genetic diseases ⚠
- p.Phe188Ser Single submitter Inborn genetic diseases ⚠
- p.Phe244Cys Single submitter ⚠
- p.Phe244Tyr Single submitter
- p.Phe358Leu Single submitter Inborn genetic diseases ⚠
- p.Phe5Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro21Leu Single submitter Inborn genetic diseases ⚠
- p.Pro307Thr Single submitter ⚠
- p.Pro376Ser Single submitter Inborn genetic diseases ⚠
- p.Pro420Ser Single submitter Inborn genetic diseases ⚠
- p.Pro545Thr Single submitter Inborn genetic diseases ⚠
- p.Ser132Gly Single submitter ⚠
- p.Ser196Phe Single submitter ⚠
- p.Ser218Arg Single submitter ⚠
- p.Ser218Asn Single submitter ⚠
- p.Ser239Leu Single submitter Inborn genetic diseases ⚠
- p.Ser239Pro Single submitter ⚠
- p.Ser29Thr Single submitter Inborn genetic diseases ⚠
- p.Ser448Ile Single submitter Inborn genetic diseases ⚠
- p.Ser455Gly Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Ser472Arg Single submitter Inborn genetic diseases ⚠
- p.Ser512Leu Single submitter pontocerebellar hypoplasia type 6
- p.Ser523Gly Single submitter ⚠
- p.Ser79Ile Single submitter ⚠
- p.Thr296Met Single submitter ⚠
- p.Thr312Ile Single submitter ⚠
- p.Thr341Ile Single submitter Inborn genetic diseases ⚠
- p.Thr414Ser Single submitter ⚠
- p.Thr476Ile Single submitter ⚠
- p.Thr476Pro Single submitter ⚠
- p.Thr87Ser Single submitter ⚠
- p.Trp449Cys Single submitter ⚠
- p.Tyr344His Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Val101Met Single submitter Inborn genetic diseases ⚠
- p.Val16Ala Single submitter Inborn genetic diseases ⚠
- p.Val205Phe Single submitter ⚠
- p.Val235Glu Single submitter ⚠
- p.Val255Phe Single submitter Inborn genetic diseases ⚠
- p.Val345= Single submitter Inborn genetic diseases
- p.Val345Met Single submitter Inborn genetic diseases ⚠
- p.Val375Met Single submitter ⚠
- p.Val380Ile Single submitter ⚠
- p.Val390Ile Single submitter pontocerebellar hypoplasia type 6 ⚠
- p.Val396Ala Single submitter Inborn genetic diseases
- p.Val46Leu Single submitter ⚠
- c.1415+10G>A No assertion criteria pontocerebellar hypoplasia type 6
- c.1651-7T>C No assertion criteria pontocerebellar hypoplasia type 6
- c.297+9A>G No assertion criteria pontocerebellar hypoplasia type 6
- c.298-5T>C No assertion criteria pontocerebellar hypoplasia type 6
- c.395+3G>C No assertion criteria pontocerebellar hypoplasia type 6
- c.451+9T>A No assertion criteria pontocerebellar hypoplasia type 6
- c.974+5G>C No assertion criteria pontocerebellar hypoplasia type 6
- c.-9G>C No assertion criteria pontocerebellar hypoplasia type 6
- p.Ala213Thr No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Arg86= No assertion criteria pontocerebellar hypoplasia type 6
- p.Asn486Asp No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Asp41Gly No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Cys372Gly No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Cys3Arg No assertion criteria
- p.Gln406Glu No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Gln517= No assertion criteria pontocerebellar hypoplasia type 6
- p.Glu117Gly No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Glu37Gly No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Glu507Lys No assertion criteria ⚠
- p.Gly268del No assertion criteria pontocerebellar hypoplasia type 6
- p.Gly303Glu No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Ile343Val No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Ile92Thr No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Leu102= No assertion criteria pontocerebellar hypoplasia type 6
- p.Leu202Ile No assertion criteria pontocerebellar hypoplasia type 6
- p.Leu238Arg No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Leu397Ser No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Leu499Pro No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Ser302Tyr No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Thr148Ser No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Tyr112His No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Val205= No assertion criteria pontocerebellar hypoplasia type 6
- p.Val559Ile No assertion criteria pontocerebellar hypoplasia type 6 ⚠
- p.Val88Ile No assertion criteria pontocerebellar hypoplasia type 6 ⚠