ARIH1 — 267 ClinVar variants
All ClinVar germline ARIH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
12 Benign · 1 Benign/Likely benign · 140 Likely benign · 114 Uncertain significance
Full ARIH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARIH1 p.Asn139Ser Uncertain significance Multiple submitters
- ARIH1 p.Glu49Asp Uncertain significance Multiple submitters
- ARIH1 p.Glu57Gln Uncertain significance Multiple submitters
- ARIH1 p.Gly64Arg Uncertain significance Multiple submitters
- ARIH1 p.His93Arg Uncertain significance Multiple submitters
- ARIH1 p.Leu154Val Uncertain significance Multiple submitters
- ARIH1 p.Leu191Val Uncertain significance Multiple submitters
- ARIH1 p.Thr250Pro Uncertain significance Multiple submitters
- ARIH1 p.Ala479Thr Uncertain significance Single submitter
- ARIH1 p.Ala73Pro Uncertain significance Single submitter
- ARIH1 p.Arg100His Uncertain significance Single submitter
- ARIH1 p.Arg171Gln Uncertain significance Single submitter
- ARIH1 p.Arg173His Uncertain significance Single submitter
- ARIH1 p.Arg363His Uncertain significance Single submitter
- ARIH1 p.Arg469His Uncertain significance Single submitter
- ARIH1 p.Asn121Ile Uncertain significance Single submitter
- ARIH1 p.Asn176Asp Uncertain significance Single submitter
- ARIH1 p.Asn195Thr Uncertain significance Single submitter
- ARIH1 p.Asp36Glu Uncertain significance Single submitter
- ARIH1 p.Asp36Tyr Uncertain significance Single submitter
- ARIH1 p.Asp37Gly Uncertain significance Single submitter
- ARIH1 p.Asp59Glu Uncertain significance Single submitter
- ARIH1 p.Gln108Glu Uncertain significance Single submitter
- ARIH1 p.Gln125Glu Uncertain significance Single submitter
- ARIH1 p.Gln95Arg Uncertain significance Single submitter
- ARIH1 p.Gln95His Uncertain significance Single submitter
- ARIH1 p.Glu15Ala Uncertain significance Single submitter
- ARIH1 p.Glu20Asp Uncertain significance Single submitter
- ARIH1 p.Glu26Ala Uncertain significance Single submitter
- ARIH1 p.Glu26Gly Uncertain significance Single submitter
- ARIH1 p.Glu26Val Uncertain significance Single submitter
- ARIH1 p.Glu28Asp Uncertain significance Single submitter
- ARIH1 p.Glu28Gly Uncertain significance Single submitter
-
ARIH1 p.Glu44Gly
Uncertain significance
Single submitter
aortic aneurysm
- ARIH1 p.Glu499Gln Uncertain significance Single submitter
- ARIH1 p.Glu548Asp Uncertain significance Single submitter
- ARIH1 p.Glu96Gln Uncertain significance Single submitter
- ARIH1 p.Gly53Asp Uncertain significance Single submitter
- ARIH1 p.Gly64Ala Uncertain significance Single submitter
- ARIH1 p.Gly77Ser Uncertain significance Single submitter
- ARIH1 p.Gly78Ser Uncertain significance Single submitter
- ARIH1 p.Gly84Ser Uncertain significance Single submitter
- ARIH1 p.Gly88Ser Uncertain significance Single submitter
- ARIH1 p.Gly89Ser Uncertain significance Single submitter
- ARIH1 p.Ile130Val Uncertain significance Single submitter
- ARIH1 p.Ile555Val Uncertain significance Single submitter
- ARIH1 p.Leu110Val Uncertain significance Single submitter
- ARIH1 p.Leu539Ser Uncertain significance Single submitter
- ARIH1 p.Leu74Val Uncertain significance Single submitter
- ARIH1 p.Lys169Arg Uncertain significance Single submitter
- ARIH1 p.Lys483Arg Uncertain significance Single submitter
- ARIH1 p.Met209Val Uncertain significance Single submitter
- ARIH1 p.Met221Val Uncertain significance Single submitter
- ARIH1 p.Met473Thr Uncertain significance Single submitter
- ARIH1 p.Pro294Thr Uncertain significance Single submitter
- ARIH1 p.Pro76Leu Uncertain significance Single submitter
- ARIH1 p.Pro91Ser Uncertain significance Single submitter
- ARIH1 p.Ser167Asn Uncertain significance Single submitter
- ARIH1 p.Ser179Leu Uncertain significance Single submitter
- ARIH1 p.Ser180Thr Uncertain significance Single submitter
- ARIH1 p.Ser213Asn Uncertain significance Single submitter
- ARIH1 p.Ser22Gly Uncertain significance Single submitter
- ARIH1 p.Ser22Ile Uncertain significance Single submitter
- ARIH1 p.Thr39Ile Uncertain significance Single submitter
- ARIH1 p.Tyr554Asp Uncertain significance Single submitter
- ARIH1 p.Tyr7Cys Uncertain significance Single submitter
- ARIH1 p.Val45Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ARIH1 p.Arg296Cys Uncertain significance Multiple submitters
- ARIH1 p.Gly86Val Uncertain significance Multiple submitters
- ARIH1 p.Ala128Gly Uncertain significance Single submitter
- ARIH1 p.Arg247Cys Uncertain significance Single submitter
- ARIH1 p.Asn139Lys Uncertain significance Single submitter
- ARIH1 p.Asn192Lys Uncertain significance Single submitter
- ARIH1 p.Glu30Lys Uncertain significance Single submitter
- ARIH1 p.Ile130Leu Uncertain significance Single submitter
- ARIH1 p.Ile324Thr Uncertain significance Single submitter
- ARIH1 p.Met113Ile Uncertain significance Single submitter
- ARIH1 p.Met113Val Uncertain significance Single submitter
- ARIH1 p.Tyr554Cys Uncertain significance Single submitter
All ARIH1 variants
Benign 12
- p.Cys211= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- c.1026+11del Single submitter
- c.1215+9A>G Single submitter
- c.1589+13dup Single submitter
- c.376-12del Single submitter
- c.588+9C>T Single submitter
- c.738-20A>G Single submitter
- c.804+14T>C Single submitter
- c.911+14T>C Single submitter
- p.Glu20del Single submitter
- p.Gly55= Single submitter
- p.Leu434= Single submitter
Benign/Likely benign 1
- p.Glu28del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
Likely benign 140
- c.955-18G>A Multiple submitters
- p.Gly88= Multiple submitters
- c.1027-19T>G Single submitter
- c.1157+14A>G Single submitter
- c.1158-12A>C Single submitter
- c.1158-20T>C Single submitter
- c.1215+10T>C Single submitter
- c.1215+15A>G Single submitter
- c.1215+19G>A Single submitter
- c.1216-15T>C Single submitter
- c.1477-15dup Single submitter
- c.1589+17C>T Single submitter
- c.1590-12C>T Single submitter
- c.1590-17_1590-9del Single submitter
- c.1590-20T>C Single submitter
- c.1590-4A>G Single submitter
- c.375+12C>A Single submitter
- c.375+12C>T Single submitter
- c.375+13G>A Single submitter
- c.375+14C>T Single submitter
- c.375+17C>A Single submitter
- c.375+19C>T Single submitter
- c.375+7G>A Single submitter
- c.376-16T>C Single submitter
- c.376-7T>G Single submitter
- c.376-9C>G Single submitter
- c.443+11A>G Single submitter
- c.443+15del Single submitter
- c.588+11G>T Single submitter
- c.588+18T>G Single submitter
- c.589-19T>A Single submitter
- c.681+10T>C Single submitter
- c.681+10T>G Single submitter
- c.681+13A>T Single submitter
- c.681+16T>C Single submitter
- c.681+17_681+19del Single submitter
- c.681+17G>A Single submitter
- c.681+6G>A Single submitter
- c.682-15T>A Single submitter
- c.737+19T>C Single submitter
- c.738-14A>T Single submitter
- c.804+10T>A Single submitter
- c.804+16T>A Single submitter
- c.804+19T>C Single submitter
- c.804+7G>A Single submitter
- c.805-15T>C Single submitter
- c.805-17T>C Single submitter
- c.805-4T>A Single submitter
- c.912-14G>A Single submitter
- c.912-16_912-15del Single submitter
- c.912-16T>C Single submitter
- c.912-19T>A Single submitter
- c.912-5A>C Single submitter
- c.912-8C>A Single submitter
- c.912-9A>C Single submitter
- c.954+10_954+13del Single submitter
- c.954+18T>C Single submitter
- c.955-18G>C Single submitter
- c.955-18G>T Single submitter
- c.955-19C>T Single submitter
- c.955-20C>A Single submitter
- p.Ala106= Single submitter
- p.Ala128= Single submitter
- p.Ala181= Single submitter
- p.Ala292= Single submitter
- p.Ala410= Single submitter
- p.Ala470= Single submitter
- p.Arg100= Single submitter
- p.Arg173= Single submitter
- p.Arg413= Single submitter
- p.Arg469= Single submitter
- p.Arg511= Single submitter
- p.Arg537= Single submitter
- p.Asn139= Single submitter
- p.Asn195= Single submitter
- p.Asn335= Single submitter
- p.Asn388= Single submitter
- p.Asp330= Single submitter
- p.Asp36= Single submitter
- p.Asp59= Single submitter
- p.Cys281= Single submitter
- p.Cys375= Single submitter
- p.Gln111= Single submitter
- p.Glu115= Single submitter
- p.Glu122= Single submitter
- p.Glu444= Single submitter
- p.Glu94= Single submitter
- p.Gly23= Single submitter
- p.Gly43= Single submitter
- p.Gly64= Single submitter
- p.Gly69= Single submitter
- p.Gly70= Single submitter
- p.Gly75= Single submitter
- p.Gly77= Single submitter
- p.Gly78= Single submitter familial thoracic aortic aneurysm and aortic dissection
- p.Gly85= Single submitter
- p.Gly86= Single submitter
- p.Gly87= Single submitter
- p.Gly89= Single submitter
- p.Gly90dup Single submitter
- p.Gly92= Single submitter
- p.His137= Single submitter
- p.His162= Single submitter
- p.His282= Single submitter
- p.His348= Single submitter
- p.Ile337= Single submitter
- p.Leu104= Single submitter
- p.Leu110= Single submitter
- p.Leu216= Single submitter
- p.Leu248= Single submitter
- p.Leu415= Single submitter
- p.Leu472= Single submitter
- p.Leu518= Single submitter
- p.Lys156= Single submitter
- p.Lys168= Single submitter
- p.Lys257= Single submitter
- p.Lys322= Single submitter
- p.Lys441= Single submitter
- p.Phe150= Single submitter
- p.Phe457= Single submitter
- p.Pro378= Single submitter
- p.Ser170= Single submitter
- p.Ser179= Single submitter
- p.Ser180= Single submitter
- p.Ser265= Single submitter
- p.Ser407= Single submitter
- p.Ser488= Single submitter
- p.Ser506= Single submitter
- p.Ser72= Single submitter
- p.Thr217= Single submitter
- p.Thr228= Single submitter
- p.Thr39= Single submitter
- p.Tyr101= Single submitter
- p.Tyr193= Single submitter
- p.Tyr476= Single submitter
- p.Tyr7= Single submitter
- p.Val114= Single submitter
- p.Val374= Single submitter
- p.Val504= Single submitter
- p.Val543= Single submitter
Uncertain significance 114
- p.Arg173Cys Multiple submitters
- p.Arg296Cys Multiple submitters ⚠
- p.Asn139Ser Multiple submitters ⚠
- p.Glu49Asp Multiple submitters ⚠
- p.Glu57Gln Multiple submitters ⚠
- p.Gly64Arg Multiple submitters ⚠
- p.Gly86Val Multiple submitters ⚠
- p.Gly89_Gly90dup Multiple submitters
- p.His93Arg Multiple submitters ⚠
- p.Leu154Val Multiple submitters ⚠
- p.Leu191Val Multiple submitters ⚠
- p.Thr250Pro Multiple submitters ⚠
- c.1026+3T>A Single submitter
- c.1157+4G>T Single submitter
- c.1476+2T>C Single submitter
- c.1476+4G>A Single submitter
- c.1589+5T>A Single submitter
- c.376-3T>C Single submitter
- c.681+7A>G Single submitter
- c.912-15T>C Single submitter
- p.Ala128Gly Single submitter ⚠
- p.Ala479Thr Single submitter ⚠
- p.Ala73Pro Single submitter ⚠
- p.Arg100Cys Single submitter
- p.Arg100His Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg247His Single submitter
- p.Arg363His Single submitter ⚠
- p.Arg469His Single submitter ⚠
- p.Asn121Ile Single submitter ⚠
- p.Asn139Lys Single submitter ⚠
- p.Asn153His Single submitter
- p.Asn176Asp Single submitter ⚠
- p.Asn192Lys Single submitter ⚠
- p.Asn195Thr Single submitter ⚠
- p.Asn270Ser Single submitter
- p.Asn393Asp Single submitter
- p.Asp12His Single submitter
- p.Asp251Glu Single submitter
- p.Asp36Glu Single submitter ⚠
- p.Asp36Tyr Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Asp59Glu Single submitter ⚠
- p.Gln108Glu Single submitter ⚠
- p.Gln125Glu Single submitter ⚠
- p.Gln95Arg Single submitter ⚠
- p.Gln95His Single submitter ⚠
- p.Glu15Ala Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Glu26Gly Single submitter ⚠
- p.Glu26Val Single submitter ⚠
- p.Glu28_Asp29insGlu Single submitter
- p.Glu28Asp Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu44Gly Single submitter aortic aneurysm ⚠
- p.Glu499Gln Single submitter ⚠
- p.Glu548Asp Single submitter ⚠
- p.Glu96Gln Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.Gly64Ala Single submitter ⚠
- p.Gly77Ser Single submitter ⚠
- p.Gly78Ser Single submitter ⚠
- p.Gly83_Gly90del Single submitter
- p.Gly84Ser Single submitter ⚠
- p.Gly85_Gly90del Single submitter
- p.Gly87_Gly90del Single submitter
- p.Gly87_Gly90dup Single submitter
- p.Gly88_Gly90del Single submitter
- p.Gly88_Gly90dup Single submitter
- p.Gly88Ser Single submitter ⚠
- p.Gly89_Gly90del Single submitter
- p.Gly89Ser Single submitter ⚠
- p.Gly90_Pro91insGly Single submitter
- p.Gly90_Pro91insGlyGly Single submitter
- p.Gly90_Pro91insGlyGlyGly Single submitter
- p.Gly90_Pro91insGlyGlyGlyGly Single submitter
- p.Gly90del Single submitter
- p.Ile130Leu Single submitter ⚠
- p.Ile130Val Single submitter ⚠
- p.Ile324Thr Single submitter ⚠
- p.Ile521Val Single submitter
- p.Ile555Val Single submitter ⚠
- p.Leu110Val Single submitter ⚠
- p.Leu191Phe Single submitter
- p.Leu539Ser Single submitter ⚠
- p.Leu74Val Single submitter ⚠
- p.Lys169Arg Single submitter ⚠
- p.Lys483Arg Single submitter ⚠
- p.Met113Ile Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met209Val Single submitter ⚠
- p.Met221Val Single submitter ⚠
- p.Met473Thr Single submitter ⚠
- p.Pro294Thr Single submitter ⚠
- p.Pro378Ser Single submitter
- p.Pro76Leu Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Ser167Asn Single submitter ⚠
- p.Ser179Leu Single submitter ⚠
- p.Ser180Thr Single submitter ⚠
- p.Ser213Asn Single submitter ⚠
- p.Ser22_Asp29del Single submitter
- p.Ser22Gly Single submitter ⚠
- p.Ser22Ile Single submitter ⚠
- p.Ser72_Gly81del Single submitter
- p.Thr39Ile Single submitter ⚠
- p.Tyr554Asp Single submitter ⚠
- p.Tyr554Cys Single submitter ⚠
- p.Tyr7Cys Single submitter ⚠
- p.Val45Met Single submitter ⚠