ARHGAP19 — 73 ClinVar variants
All ClinVar germline ARHGAP19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 2 Likely benign · 67 Uncertain significance
Full ARHGAP19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGAP19 p.Ala329Ser Uncertain significance Single submitter
- ARHGAP19 p.Ala348Pro Uncertain significance Single submitter
- ARHGAP19 p.Ala418Thr Uncertain significance Single submitter
- ARHGAP19 p.Arg106Gln Uncertain significance Single submitter
- ARHGAP19 p.Arg223Trp Uncertain significance Single submitter
- ARHGAP19 p.Arg353Gln Uncertain significance Single submitter
- ARHGAP19 p.Arg355Trp Uncertain significance Single submitter
- ARHGAP19 p.Arg394Lys Uncertain significance Single submitter
- ARHGAP19 p.Arg407Leu Uncertain significance Single submitter
- ARHGAP19 p.Asn198Ser Uncertain significance Single submitter
-
ARHGAP19 p.Asn29Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease, axonal, type 2KK
- ARHGAP19 p.Asn29Ser Uncertain significance Single submitter
- ARHGAP19 p.Asn64Ser Uncertain significance Single submitter
- ARHGAP19 p.Asp30Glu Uncertain significance Single submitter
- ARHGAP19 p.Gln152Arg Uncertain significance Single submitter
- ARHGAP19 p.Gln399Glu Uncertain significance Single submitter
- ARHGAP19 p.Gln78Glu Uncertain significance Single submitter
- ARHGAP19 p.Glu10Ala Uncertain significance Single submitter
- ARHGAP19 p.Glu10Gln Uncertain significance Single submitter
- ARHGAP19 p.Glu189Lys Uncertain significance Single submitter
- ARHGAP19 p.Gly406Arg Uncertain significance Single submitter
- ARHGAP19 p.Gly90Val Uncertain significance Single submitter
- ARHGAP19 p.His194Gln Uncertain significance Single submitter
- ARHGAP19 p.His303Pro Uncertain significance Single submitter
- ARHGAP19 p.Ile112Met Uncertain significance Single submitter
- ARHGAP19 p.Ile129Thr Uncertain significance Single submitter
- ARHGAP19 p.Ile22Val Uncertain significance Single submitter
- ARHGAP19 p.Ile452Thr Uncertain significance Single submitter
- ARHGAP19 p.Leu158Phe Uncertain significance Single submitter
- ARHGAP19 p.Leu191Val Uncertain significance Single submitter
- ARHGAP19 p.Leu201Val Uncertain significance Single submitter
- ARHGAP19 p.Leu320Phe Uncertain significance Single submitter
- ARHGAP19 p.Leu79Pro Uncertain significance Single submitter
- ARHGAP19 p.Lys352Gln Uncertain significance Single submitter
- ARHGAP19 p.Lys416Glu Uncertain significance Single submitter
- ARHGAP19 p.Lys86Arg Uncertain significance Single submitter
- ARHGAP19 p.Met182Ile Uncertain significance Single submitter
- ARHGAP19 p.Met475Ile Uncertain significance Single submitter
- ARHGAP19 p.Phe345Leu Uncertain significance Single submitter
- ARHGAP19 p.Pro12Leu Uncertain significance Single submitter
- ARHGAP19 p.Ser115Phe Uncertain significance Single submitter
- ARHGAP19 p.Ser148Gly Uncertain significance Single submitter
- ARHGAP19 p.Ser16Cys Uncertain significance Single submitter
- ARHGAP19 p.Ser295Cys Uncertain significance Single submitter
- ARHGAP19 p.Ser295Gly Uncertain significance Single submitter
- ARHGAP19 p.Ser339Leu Uncertain significance Single submitter
- ARHGAP19 p.Ser358Thr Uncertain significance Single submitter
- ARHGAP19 p.Ser420Leu Uncertain significance Single submitter
- ARHGAP19 p.Ser459Asn Uncertain significance Single submitter
- ARHGAP19 p.Thr342Ile Uncertain significance Single submitter
- ARHGAP19 p.Thr365Ala Uncertain significance Single submitter
- ARHGAP19 p.Thr411Ile Uncertain significance Single submitter
- ARHGAP19 p.Thr474Met Uncertain significance Single submitter
- ARHGAP19 p.Val11Leu Uncertain significance Single submitter
- ARHGAP19 p.Val11Met Uncertain significance Single submitter
- ARHGAP19 p.Val380Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ARHGAP19 p.Asn174Lys Uncertain significance Single submitter
- ARHGAP19 p.Gln151Arg Uncertain significance Single submitter
- ARHGAP19 p.Ile393Thr Uncertain significance Single submitter
-
ARHGAP19 p.Leu228His
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease, axonal, type 2KK
- ARHGAP19 p.Lys221Glu Uncertain significance Single submitter
- ARHGAP19 p.Lys48Thr Uncertain significance Single submitter
- ARHGAP19 p.Phe308Leu Uncertain significance Single submitter
-
ARHGAP19 p.Gln151Lys
Pathogenic
No assertion criteria
Charcot-Marie-Tooth disease, axonal, type 2KK
All ARHGAP19 variants
Pathogenic 3
- p.Gln151Lys No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2KK ⚠
- p.His196fs No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2KK
- p.Leu68Pro No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2KK
Likely pathogenic 1
- p.Pro188fs Single submitter Charcot-Marie-Tooth disease, axonal, type 2KK
Likely benign 2
- p.His321Tyr Single submitter
- p.Pro360Ser Single submitter
Uncertain significance 67
- p.Ala329Ser Single submitter ⚠
- p.Ala348Pro Single submitter ⚠
- p.Ala418Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Arg240His Single submitter
- p.Arg319Ile Single submitter
- p.Arg353Gln Single submitter ⚠
- p.Arg355Trp Single submitter ⚠
- p.Arg394Lys Single submitter ⚠
- p.Arg407Leu Single submitter ⚠
- p.Asn174Lys Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asn29Asp Single submitter Charcot-Marie-Tooth disease, axonal, type 2KK ⚠
- p.Asn29Ser Single submitter ⚠
- p.Asn64Ser Single submitter ⚠
- p.Asp30Glu Single submitter ⚠
- p.Gln151Arg Single submitter ⚠
- p.Gln152Arg Single submitter ⚠
- p.Gln399Glu Single submitter ⚠
- p.Gln78Glu Single submitter ⚠
- p.Glu10Ala Single submitter ⚠
- p.Glu10Gln Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Gly169Glu Single submitter
- p.Gly406Arg Single submitter ⚠
- p.Gly90Val Single submitter ⚠
- p.His194Gln Single submitter ⚠
- p.His303Pro Single submitter ⚠
- p.Ile112Met Single submitter ⚠
- p.Ile129Thr Single submitter ⚠
- p.Ile22Val Single submitter ⚠
- p.Ile393Thr Single submitter ⚠
- p.Ile452Thr Single submitter ⚠
- p.Leu158Phe Single submitter ⚠
- p.Leu191Val Single submitter ⚠
- p.Leu201Val Single submitter ⚠
- p.Leu228His Single submitter Charcot-Marie-Tooth disease, axonal, type 2KK ⚠
- p.Leu320Phe Single submitter ⚠
- p.Leu79Pro Single submitter ⚠
- p.Lys221Glu Single submitter ⚠
- p.Lys352Gln Single submitter ⚠
- p.Lys416Glu Single submitter ⚠
- p.Lys48Thr Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Met182Ile Single submitter ⚠
- p.Met475Ile Single submitter ⚠
- p.Phe308Leu Single submitter ⚠
- p.Phe345Leu Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Ser115Phe Single submitter ⚠
- p.Ser148Gly Single submitter ⚠
- p.Ser16Cys Single submitter ⚠
- p.Ser295Cys Single submitter ⚠
- p.Ser295Gly Single submitter ⚠
- p.Ser339Leu Single submitter ⚠
- p.Ser358Thr Single submitter ⚠
- p.Ser420Leu Single submitter ⚠
- p.Ser459Asn Single submitter ⚠
- p.Thr342Ile Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Thr369Met Single submitter
- p.Thr411Ile Single submitter ⚠
- p.Thr474Met Single submitter ⚠
- p.Val11Leu Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val380Ile Single submitter ⚠