HTRA1 — 387 ClinVar variants
All ClinVar germline HTRA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →
12 Pathogenic · 13 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 26 Conflicting · 23 Benign · 9 Benign/Likely benign · 97 Likely benign · 189 Uncertain significance
Full HTRA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 173
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HTRA1 p.Ala321Thr
Conflicting
Single submitter
HTRA1-related disorders
-
HTRA1 p.Ala425Val
Conflicting
Single submitter
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
-
HTRA1 p.Arg59Pro
Conflicting
Single submitter
macular degeneration
-
HTRA1 p.Asp320Asn
Conflicting
Single submitter
age related macular degeneration 7
-
HTRA1 p.Gly158Arg
Conflicting
Single submitter
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
-
HTRA1 p.His220Gln
Conflicting
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Ile256Thr
Conflicting
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Pro285Leu
Conflicting
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Pro82Arg
Conflicting
Single submitter
HTRA1-related disorder
- HTRA1 p.Ser139Ala Conflicting Single submitter
-
HTRA1 p.Thr365Met
Conflicting
Single submitter
macular degeneration
- HTRA1 p.Val175Leu Conflicting Single submitter
- HTRA1 p.Val183Met Conflicting Single submitter
-
HTRA1 p.Val279Met
Conflicting
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HTRA1 p.Ala173Ser Uncertain significance Multiple submitters
- HTRA1 p.Ala173Val Uncertain significance Multiple submitters
-
HTRA1 p.Ala31Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Ala7Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Arg102Trp Uncertain significance Multiple submitters
-
HTRA1 p.Arg133His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Arg274Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Arg29His Uncertain significance Multiple submitters
-
HTRA1 p.Arg40Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Arg463His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Asp420Glu
Uncertain significance
Multiple submitters
macular degeneration
- HTRA1 p.Asp450Asn Uncertain significance Multiple submitters
-
HTRA1 p.Gln151Lys
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
-
HTRA1 p.Gln88Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Gly156Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Gly330Asp Uncertain significance Multiple submitters
-
HTRA1 p.Gly63Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Ile296Met Uncertain significance Multiple submitters
- HTRA1 p.Ile377Asn Uncertain significance Multiple submitters
- HTRA1 p.Ile474Val Uncertain significance Multiple submitters
-
HTRA1 p.Lys261Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Lys359Arg Uncertain significance Multiple submitters
- HTRA1 p.Met470Val Uncertain significance Multiple submitters
-
HTRA1 p.Pro145Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Pro193Leu
Uncertain significance
Multiple submitters
macular degeneration
-
HTRA1 p.Pro4Ser
Uncertain significance
Multiple submitters
macular degeneration
-
HTRA1 p.Ser21Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Ser328Leu
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- HTRA1 p.Thr237Ile Uncertain significance Multiple submitters
-
HTRA1 p.Thr472Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Val175Met Uncertain significance Multiple submitters
- HTRA1 p.Ala113Val Uncertain significance Single submitter
- HTRA1 p.Ala134Thr Uncertain significance Single submitter
-
HTRA1 p.Ala18Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Ala219Val Uncertain significance Single submitter
- HTRA1 p.Ala281Thr Uncertain significance Single submitter
- HTRA1 p.Ala31Glu Uncertain significance Single submitter
-
HTRA1 p.Ala321Gly
Uncertain significance
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- HTRA1 p.Ala34Val Uncertain significance Single submitter
- HTRA1 p.Ala412Glu Uncertain significance Single submitter
- HTRA1 p.Arg26Pro Uncertain significance Single submitter
-
HTRA1 p.Arg26Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Arg310Pro Uncertain significance Single submitter
- HTRA1 p.Arg403Gln Uncertain significance Single submitter
-
HTRA1 p.Arg403Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Arg463Cys Uncertain significance Single submitter
- HTRA1 p.Arg57Pro Uncertain significance Single submitter
- HTRA1 p.Asn124Asp Uncertain significance Single submitter
- HTRA1 p.Asn324Ile Uncertain significance Single submitter
-
HTRA1 p.Asp257Ala
Uncertain significance
Single submitter
macular degeneration
- HTRA1 p.Asp358Gly Uncertain significance Single submitter
- HTRA1 p.Asp404Asn Uncertain significance Single submitter
- HTRA1 p.Asp447Glu Uncertain significance Single submitter
- HTRA1 p.Asp450His Uncertain significance Single submitter
- HTRA1 p.Gln157Arg Uncertain significance Single submitter
- HTRA1 p.Glu140Lys Uncertain significance Single submitter
- HTRA1 p.Glu272Val Uncertain significance Single submitter
- HTRA1 p.Glu277Ala Uncertain significance Single submitter
- HTRA1 p.Glu51Gln Uncertain significance Single submitter
- HTRA1 p.Glu51Gly Uncertain significance Single submitter
- HTRA1 p.Glu54Ala Uncertain significance Single submitter
-
HTRA1 p.Glu66Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Glu66Gln Uncertain significance Single submitter
- HTRA1 p.Gly108Val Uncertain significance Single submitter
-
HTRA1 p.Gly156Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Gly204Arg Uncertain significance Single submitter
- HTRA1 p.Gly206Arg Uncertain significance Single submitter
- HTRA1 p.Gly295Glu Uncertain significance Single submitter
- HTRA1 p.Gly308Arg Uncertain significance Single submitter
- HTRA1 p.Gly350Arg Uncertain significance Single submitter
-
HTRA1 p.Gly36Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Ile215Met Uncertain significance Single submitter
- HTRA1 p.Ile340Phe Uncertain significance Single submitter
- HTRA1 p.Ile351Val Uncertain significance Single submitter
- HTRA1 p.Ile360Thr Uncertain significance Single submitter
- HTRA1 p.Ile3Asn Uncertain significance Single submitter
- HTRA1 p.Ile478Thr Uncertain significance Single submitter
-
HTRA1 p.Leu109Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Leu129Arg Uncertain significance Single submitter
- HTRA1 p.Leu428Val Uncertain significance Single submitter
-
HTRA1 p.Leu78Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HTRA1 p.Leu87Arg
Uncertain significance
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- HTRA1 p.Lys243Arg Uncertain significance Single submitter
- HTRA1 p.Lys248Arg Uncertain significance Single submitter
- HTRA1 p.Lys248Thr Uncertain significance Single submitter
-
HTRA1 p.Lys373Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Lys379Arg Uncertain significance Single submitter
- HTRA1 p.Lys399Gln Uncertain significance Single submitter
-
HTRA1 p.Lys429Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HTRA1 p.Phe286Ser
Uncertain significance
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Phe405Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Pro145Ser Uncertain significance Single submitter
- HTRA1 p.Pro146Arg Uncertain significance Single submitter
-
HTRA1 p.Pro181Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Pro331Leu Uncertain significance Single submitter
- HTRA1 p.Pro356Ser Uncertain significance Single submitter
- HTRA1 p.Pro43Ser Uncertain significance Single submitter
-
HTRA1 p.Pro475Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Pro480Ser Uncertain significance Single submitter
- HTRA1 p.Ser164Asn Uncertain significance Single submitter
- HTRA1 p.Ser210Leu Uncertain significance Single submitter
- HTRA1 p.Ser25Phe Uncertain significance Single submitter
- HTRA1 p.Ser25Pro Uncertain significance Single submitter
- HTRA1 p.Ser270Phe Uncertain significance Single submitter
-
HTRA1 p.Ser270Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Ser287Pro Uncertain significance Single submitter
- HTRA1 p.Ser298Asn Uncertain significance Single submitter
- HTRA1 p.Ser392Pro Uncertain significance Single submitter
- HTRA1 p.Ser393Gly Uncertain significance Single submitter
- HTRA1 p.Ser436Gly Uncertain significance Single submitter
- HTRA1 p.Thr421Ile Uncertain significance Single submitter
- HTRA1 p.Tyr169Phe Uncertain significance Single submitter
- HTRA1 p.Val149Ala Uncertain significance Single submitter
-
HTRA1 p.Val176Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Val221Met Uncertain significance Single submitter
- HTRA1 p.Val339Met Uncertain significance Single submitter
- HTRA1 p.Val417Ile Uncertain significance Single submitter
- HTRA1 p.Val451Ile Uncertain significance Single submitter
-
HTRA1 p.Val95Leu
Uncertain significance
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Ala376Val
Uncertain significance
No assertion criteria
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Tyr382His
Uncertain significance
No assertion criteria
HTRA1-related disorder
Predictors split 38
The independent predictors disagree with each other — read with care.
-
HTRA1 p.Ala445Thr
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- HTRA1 p.Arg190His Uncertain significance Multiple submitters
-
HTRA1 p.Arg197Gln
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Glu42Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Gly235Ser Uncertain significance Multiple submitters
-
HTRA1 p.Gly304Arg
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
-
HTRA1 p.Gly69Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HTRA1 p.Lys362Asn Uncertain significance Multiple submitters
- HTRA1 p.Met314Val Uncertain significance Multiple submitters
-
HTRA1 p.Pro200Leu
Uncertain significance
Multiple submitters
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- HTRA1 p.Pro50Ala Uncertain significance Multiple submitters
- HTRA1 p.Val216Met Uncertain significance Multiple submitters
-
HTRA1 p.Val408Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HTRA1 p.Ala180Val
Uncertain significance
Single submitter
HTRA1-related disorder
- HTRA1 p.Arg144Trp Uncertain significance Single submitter
- HTRA1 p.Arg269Cys Uncertain significance Single submitter
- HTRA1 p.Arg269His Uncertain significance Single submitter
- HTRA1 p.Arg401Trp Uncertain significance Single submitter
-
HTRA1 p.Arg45Cys
Uncertain significance
Single submitter
macular degeneration
- HTRA1 p.Asn324Asp Uncertain significance Single submitter
-
HTRA1 p.Asn324Thr
Likely pathogenic
Single submitter
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- HTRA1 p.Glu211Ala Uncertain significance Single submitter
-
HTRA1 p.Glu477Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Gly86Glu Uncertain significance Single submitter
-
HTRA1 p.His258Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Ile148Asn Uncertain significance Single submitter
- HTRA1 p.Leu142Pro Uncertain significance Single submitter
- HTRA1 p.Leu335Val Uncertain significance Single submitter
- HTRA1 p.Leu9Phe Uncertain significance Single submitter
- HTRA1 p.Lys380Asn Uncertain significance Single submitter
-
HTRA1 p.Met314Thr
Uncertain significance
Single submitter
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- HTRA1 p.Phe405Leu Uncertain significance Single submitter
- HTRA1 p.Pro38Ala Uncertain significance Single submitter
-
HTRA1 p.Pro47Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- HTRA1 p.Thr348Arg Uncertain significance Single submitter
- HTRA1 p.Thr391Met Uncertain significance Single submitter
- HTRA1 p.Val461Ala Uncertain significance Single submitter
-
HTRA1 p.Glu231Lys
Uncertain significance
No assertion criteria
HTRA1-related disorder
All HTRA1 variants
Pathogenic 12
- p.Ala182fs Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Arg166Leu Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Gln289Ter Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Ala252Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Pro92fs Single submitter
- p.Ser205Cys Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Ser30Ter Single submitter HTRA1-related autosomal dominant cerebral small vessel disease
- p.Val297Met Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- c.973-1G>A No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Ala173Pro No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Glu42fs No assertion criteria cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Ser284Arg No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Pathogenic/Likely pathogenic 13
- c.972+1G>A Multiple submitters age related macular degeneration 7
- p.Arg166Cys Multiple submitters HTRA1-related disorder
- p.Arg166His Multiple submitters cerebral arterial disease
- p.Arg274Gln Multiple submitters HTRA1-related disorders
- p.Arg302Gln Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Arg302Ter Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Arg370Ter Multiple submitters HTRA1-related cerebral small vessel disease
- p.Arg386Ter Multiple submitters HTRA1-related cerebral small vessel disease
- p.Arg59fs Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Cys62fs Multiple submitters HTRA1-related disorders
- p.Cys89Ter Multiple submitters
- p.Gly283Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Gly295Arg Multiple submitters HTRA1-related disorders
Likely pathogenic 18
- c.1120+1G>A Single submitter
- c.472+2T>C Single submitter
- c.777+1G>A Single submitter
- c.972+1G>C Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Asn224fs Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Asn324Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Gln151Ter Single submitter
- p.Glu54Ter Single submitter HTRA1-related disorders
- p.Gly120Asp Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Gly276Ala Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Ile179Asn Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Leu345fs Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Lys178Ter Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Phe278Leu Single submitter HTRA1-related disorders
- p.Phe93fs Single submitter
- p.Ser352Tyr Single submitter Leukodystrophy, Adult-Onset
- p.Arg274Gly No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Gln79Ter No assertion criteria cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
Conflicting classifications of pathogenicity 26
- c.472+6C>A Single submitter macular degeneration
- c.573-8G>A Single submitter
- c.777+14C>T Single submitter macular degeneration
- c.973-6T>C Single submitter
- p.Ala281= Single submitter macular degeneration
- p.Ala321Thr Single submitter HTRA1-related disorders ⚠
- p.Ala425Val Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.Arg197Ter Single submitter HTRA1-related disorders
- p.Arg59Pro Single submitter macular degeneration ⚠
- p.Asp320Asn Single submitter age related macular degeneration 7 ⚠
- p.Asp450= Single submitter macular degeneration
- p.Gly158Arg Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.His220Gln Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Ile256Thr Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Leu12= Single submitter macular degeneration
- p.Leu16del Single submitter
- p.Pro285Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Pro4= Single submitter macular degeneration
- p.Pro82Arg Single submitter HTRA1-related disorder ⚠
- p.Ser139Ala Single submitter ⚠
- p.Thr293= Single submitter
- p.Thr319= Single submitter
- p.Thr365Met Single submitter macular degeneration ⚠
- p.Val175Leu Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val279Met Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
Benign 23
- c.1178+18G>A Multiple submitters
- c.1274+14G>A Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- c.1275-36C>T Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- c.473-8G>T Multiple submitters macular degeneration
- c.777+93C>T Multiple submitters
- c.778-20G>A Multiple submitters
- c.972+99C>T Multiple submitters
- p.Ala113Ser Multiple submitters macular degeneration
- c.1005+169G>A Single submitter
- c.1005+74TTGT[2] Single submitter
- c.1006-20G>A Single submitter
- c.1120+115C>G Single submitter
- c.1120+254G>C Single submitter
- c.1179-205_1179-204insTA Single submitter
- c.1179-211del Single submitter
- c.1179-216_1179-204del Single submitter
- c.1179-220del Single submitter
- c.1179-226_1179-225del Single submitter
- c.473-176C>G Single submitter
- c.572+20T>C Single submitter
- c.777+167G>A Single submitter
- c.972+215G>A Single submitter
- p.Leu332= Single submitter
Benign/Likely benign 9
- c.1274+8G>A Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- c.778-16G>A Multiple submitters
- p.Ala20Val Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Ala34= Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Arg26Gln Multiple submitters
- p.Asp407= Multiple submitters macular degeneration
- p.Gly36= Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Ile251= Multiple submitters macular degeneration
- p.Phe278= Multiple submitters macular degeneration
Likely benign 97
- c.777+17C>T Multiple submitters
- p.Arg403Trp Multiple submitters
- p.Asp432= Multiple submitters
- p.Glu42= Multiple submitters
- p.Gly330= Multiple submitters
- p.Gly55= Multiple submitters
- p.Ile471= Multiple submitters
- p.Pro193= Multiple submitters
- p.Pro475= Multiple submitters
- p.Pro48= Multiple submitters
- p.Ser410= Multiple submitters
- p.Ser441= Multiple submitters
- p.Thr391= Multiple submitters
- p.Val201= Multiple submitters
- c.1120+13C>T Single submitter
- c.1121-13G>A Single submitter
- c.1121-6C>T Single submitter
- c.1178+12G>A Single submitter
- c.1178+17C>T Single submitter
- c.1179-18G>A Single submitter
- c.1274+16T>G Single submitter
- c.1274+19C>G Single submitter
- c.1275-7G>A Single submitter
- c.1275-9G>A Single submitter
- c.473-13C>A Single submitter
- c.572+12C>T Single submitter
- c.778-15C>T Single submitter
- c.778-7G>A Single submitter
- c.972+15del Single submitter
- c.972+20C>T Single submitter
- c.973-18A>G Single submitter
- c.973-20T>A Single submitter
- c.973-7A>T Single submitter
- c.-57C>A Single submitter
- c.*296C>G Single submitter macular degeneration
- p.Ala180= Single submitter
- p.Ala182= Single submitter
- p.Ala22= Single submitter
- p.Ala252= Single submitter
- p.Ala412= Single submitter
- p.Ala44= Single submitter
- p.Arg386= Single submitter
- p.Arg463= Single submitter
- p.Arg5= Single submitter
- p.Arg59= Single submitter
- p.Asn218= Single submitter
- p.Asn224= Single submitter
- p.Asn234= Single submitter
- p.Asn438= Single submitter
- p.Asp320= Single submitter
- p.Asp336= Single submitter
- p.Asp60= Single submitter
- p.Cys155= Single submitter
- p.Cys41= Single submitter
- p.Cys68= Single submitter
- p.Cys76= Single submitter
- p.Gln259Glu Single submitter Inborn genetic diseases
- p.Gly28= Single submitter
- p.Gly303= Single submitter
- p.Gly337= Single submitter
- p.Gly384= Single submitter
- p.Gly94= Single submitter
- p.Ile172= Single submitter
- p.Ile179= Single submitter
- p.Ile208= Single submitter
- p.Ile215= Single submitter
- p.Ile282= Single submitter
- p.Ile3= Single submitter
- p.Ile355= Single submitter
- p.Ile418= Single submitter
- p.Leu109= Single submitter
- p.Leu11= Single submitter
- p.Leu24= Single submitter
- p.Lys168= Single submitter
- p.Lys362= Single submitter
- p.Pro117= Single submitter
- p.Pro146= Single submitter
- p.Pro275= Single submitter
- p.Pro32= Single submitter
- p.Pro50= Single submitter
- p.Pro82= Single submitter
- p.Ser139= Single submitter
- p.Ser21= Single submitter
- p.Ser210= Single submitter
- p.Ser30= Single submitter
- p.Ser444= Single submitter
- p.Ser449= Single submitter
- p.Thr100= Single submitter
- p.Thr365= Single submitter
- p.Thr378= Single submitter
- p.Thr421= Single submitter
- p.Thr472= Single submitter
- p.Val280= Single submitter
- p.Val417= Single submitter
- p.Leu9= No assertion criteria HTRA1-related disorder
- p.Lys394= No assertion criteria HTRA1-related disorder
- p.Val279= No assertion criteria HTRA1-related disorder
Uncertain significance 189
- p.Ala173Ser Multiple submitters ⚠
- p.Ala173Val Multiple submitters ⚠
- p.Ala31Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala445Thr Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.Ala7Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg102Trp Multiple submitters ⚠
- p.Arg133His Multiple submitters Inborn genetic diseases ⚠
- p.Arg190His Multiple submitters ⚠
- p.Arg197Gln Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Arg227Trp Multiple submitters
- p.Arg274Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg29His Multiple submitters ⚠
- p.Arg40Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg463His Multiple submitters Inborn genetic diseases ⚠
- p.Asp420Glu Multiple submitters macular degeneration ⚠
- p.Asp450Asn Multiple submitters ⚠
- p.Gln151Lys Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.Gln88Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu42Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly156Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly235Ser Multiple submitters ⚠
- p.Gly304Arg Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Gly330Asp Multiple submitters ⚠
- p.Gly63Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly69Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile282Leu Multiple submitters Inborn genetic diseases
- p.Ile296Met Multiple submitters ⚠
- p.Ile377Asn Multiple submitters ⚠
- p.Ile474Val Multiple submitters ⚠
- p.Leu16dup Multiple submitters
- p.Lys261Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys359Arg Multiple submitters ⚠
- p.Lys362Asn Multiple submitters ⚠
- p.Met314Val Multiple submitters ⚠
- p.Met470Val Multiple submitters ⚠
- p.Pro145Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro193Leu Multiple submitters macular degeneration ⚠
- p.Pro200Leu Multiple submitters cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.Pro475Ala Multiple submitters cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- p.Pro4Ser Multiple submitters macular degeneration ⚠
- p.Pro50Ala Multiple submitters ⚠
- p.Ser21Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser328Leu Multiple submitters cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Thr237Ile Multiple submitters ⚠
- p.Thr472Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val175Met Multiple submitters ⚠
- p.Val216Met Multiple submitters ⚠
- p.Val280Ile Multiple submitters Inborn genetic diseases
- p.Val408Met Multiple submitters Inborn genetic diseases ⚠
- c.1005+5G>A Single submitter
- c.1120+5G>A Single submitter
- c.1178+2dup Single submitter
- c.1179-16T>G Single submitter
- c.1274+3G>C Single submitter
- c.1274+3G>T Single submitter
- c.1275-3C>T Single submitter
- c.777+6G>A Single submitter
- c.*191G>T Single submitter macular degeneration
- c.*217T>A Single submitter macular degeneration
- c.*446G>A Single submitter macular degeneration
- c.*460C>T Single submitter macular degeneration
- p.Ala113Val Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala180Val Single submitter HTRA1-related disorder ⚠
- p.Ala18Glu Single submitter Inborn genetic diseases ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Ala31Glu Single submitter ⚠
- p.Ala321Gly Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala412Glu Single submitter ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg26Pro Single submitter ⚠
- p.Arg26Trp Single submitter Inborn genetic diseases ⚠
- p.Arg310Pro Single submitter ⚠
- p.Arg401Trp Single submitter ⚠
- p.Arg403Gln Single submitter ⚠
- p.Arg403Pro Single submitter Inborn genetic diseases ⚠
- p.Arg45Cys Single submitter macular degeneration ⚠
- p.Arg463Cys Single submitter ⚠
- p.Arg57Pro Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn324= Single submitter
- p.Asn324Asp Single submitter ⚠
- p.Asn324Ile Single submitter ⚠
- p.Asp257Ala Single submitter macular degeneration ⚠
- p.Asp358Gly Single submitter ⚠
- p.Asp404Asn Single submitter ⚠
- p.Asp447Glu Single submitter ⚠
- p.Asp450His Single submitter ⚠
- p.Cys46Ter Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- p.Gln157Arg Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu177del Single submitter
- p.Glu211Ala Single submitter ⚠
- p.Glu239Lys Single submitter
- p.Glu272Val Single submitter ⚠
- p.Glu277Ala Single submitter ⚠
- p.Glu477Ala Single submitter Inborn genetic diseases ⚠
- p.Glu51Gln Single submitter ⚠
- p.Glu51Gly Single submitter ⚠
- p.Glu54Ala Single submitter ⚠
- p.Glu66Asp Single submitter Inborn genetic diseases ⚠
- p.Glu66Gln Single submitter ⚠
- p.Gly108Val Single submitter ⚠
- p.Gly156Ala Single submitter Inborn genetic diseases ⚠
- p.Gly204Arg Single submitter ⚠
- p.Gly206Arg Single submitter ⚠
- p.Gly295Glu Single submitter ⚠
- p.Gly308Arg Single submitter ⚠
- p.Gly350Arg Single submitter ⚠
- p.Gly36Ala Single submitter Inborn genetic diseases ⚠
- p.Gly465fs Single submitter
- p.Gly86Glu Single submitter ⚠
- p.His258Asp Single submitter Inborn genetic diseases ⚠
- p.Ile148Asn Single submitter ⚠
- p.Ile215Met Single submitter ⚠
- p.Ile282_Gly283insAlaIle Single submitter
- p.Ile340Phe Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile360Thr Single submitter ⚠
- p.Ile3Asn Single submitter ⚠
- p.Ile478Thr Single submitter ⚠
- p.Leu109Phe Single submitter Inborn genetic diseases ⚠
- p.Leu11_Leu12insSer Single submitter
- p.Leu129= Single submitter macular degeneration
- p.Leu129Arg Single submitter ⚠
- p.Leu12fs Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Leu13fs Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- p.Leu142Pro Single submitter ⚠
- p.Leu335Val Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Leu78Pro Single submitter Inborn genetic diseases ⚠
- p.Leu87Arg Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys178del Single submitter
- p.Lys243Arg Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Lys248Thr Single submitter ⚠
- p.Lys373Glu Single submitter Inborn genetic diseases ⚠
- p.Lys379Arg Single submitter ⚠
- p.Lys380Asn Single submitter ⚠
- p.Lys381del Single submitter
- p.Lys399Gln Single submitter ⚠
- p.Lys429Gln Single submitter Inborn genetic diseases ⚠
- p.Met314Thr Single submitter cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 ⚠
- p.Met460Thr Single submitter
- p.Phe286Ser Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Phe405Leu Single submitter ⚠
- p.Phe405Val Single submitter Inborn genetic diseases ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro146Arg Single submitter ⚠
- p.Pro181Ser Single submitter Inborn genetic diseases ⚠
- p.Pro331Leu Single submitter ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro38Ala Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro475Ser Single submitter Inborn genetic diseases ⚠
- p.Pro47Gln Single submitter Inborn genetic diseases ⚠
- p.Pro480Ser Single submitter ⚠
- p.Ser164Asn Single submitter ⚠
- p.Ser210Leu Single submitter ⚠
- p.Ser25Phe Single submitter ⚠
- p.Ser25Pro Single submitter ⚠
- p.Ser270Phe Single submitter ⚠
- p.Ser270Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser287Pro Single submitter ⚠
- p.Ser298Asn Single submitter ⚠
- p.Ser392Pro Single submitter ⚠
- p.Ser393Gly Single submitter ⚠
- p.Ser436Gly Single submitter ⚠
- p.Thr348Arg Single submitter ⚠
- p.Thr391Met Single submitter ⚠
- p.Thr421Ile Single submitter ⚠
- p.Tyr169Phe Single submitter ⚠
- p.Val111_Asp122del Single submitter
- p.Val149Ala Single submitter ⚠
- p.Val176Leu Single submitter Inborn genetic diseases ⚠
- p.Val221Met Single submitter ⚠
- p.Val339Met Single submitter ⚠
- p.Val417Ile Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val461Ala Single submitter ⚠
- p.Val95Leu Single submitter cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Ala376Val No assertion criteria cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ⚠
- p.Glu231Lys No assertion criteria HTRA1-related disorder ⚠
- p.Tyr382His No assertion criteria HTRA1-related disorder ⚠