SARS2 — 358 ClinVar variants
All ClinVar germline SARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 24 Conflicting · 28 Benign · 10 Benign/Likely benign · 116 Likely benign · 175 Uncertain significance
Full SARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SARS2 p.Arg252His
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg31Gly
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Thr439Ser
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Val180Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SARS2 p.Ala167Val
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ala516Ser
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg118Gln
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg143Gln
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg143Gly
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg15Pro
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg227Trp
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg253Gln
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg330Trp
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg415His
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg432Cys
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg432His
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg507Gly Uncertain significance Multiple submitters
-
SARS2 p.Arg77Leu
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asp125Asn
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asp293Asn
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gln217Pro Uncertain significance Multiple submitters
- SARS2 p.Gly513Asp Uncertain significance Multiple submitters
-
SARS2 p.Gly513Ser
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ile286Met
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ile501Val
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Leu149Pro
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Leu481His Uncertain significance Multiple submitters
-
SARS2 p.Leu498Pro
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Phe200Leu Uncertain significance Multiple submitters
-
SARS2 p.Val150Ile
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Val313Met
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala234Pro Uncertain significance Single submitter
-
SARS2 p.Ala234Val
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala236Val Uncertain significance Single submitter
-
SARS2 p.Ala297Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ala314Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala400Asp Uncertain significance Single submitter
- SARS2 p.Ala400Thr Uncertain significance Single submitter
- SARS2 p.Ala441Ser Uncertain significance Single submitter
-
SARS2 p.Ala441Thr
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala447Val Uncertain significance Single submitter
-
SARS2 p.Ala480Val
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala516Pro Uncertain significance Single submitter
- SARS2 p.Arg187Gln Uncertain significance Single submitter
-
SARS2 p.Arg19Gly
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg265His Uncertain significance Single submitter
-
SARS2 p.Arg340Gln
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg340Trp Uncertain significance Single submitter
-
SARS2 p.Arg344Pro
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg415Cys Uncertain significance Single submitter
- SARS2 p.Arg459His Uncertain significance Single submitter
- SARS2 p.Arg507Trp Uncertain significance Single submitter
-
SARS2 p.Asn248Lys
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asn277Asp
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asn279Lys
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Asn279Tyr Uncertain significance Single submitter
- SARS2 p.Asp177Glu Uncertain significance Single submitter
-
SARS2 p.Gln162Arg
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gln363His Uncertain significance Single submitter
- SARS2 p.Gln429Arg Uncertain significance Single submitter
- SARS2 p.Gln514Glu Uncertain significance Single submitter
- SARS2 p.Glu101Asp Uncertain significance Single submitter
-
SARS2 p.Glu115Gly
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Gly17Glu
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Gly181Arg
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gly233Arg Uncertain significance Single submitter
- SARS2 p.Gly241Ser Uncertain significance Single submitter
-
SARS2 p.Leu189Phe
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Leu212Val Uncertain significance Single submitter
- SARS2 p.Met191Thr Uncertain significance Single submitter
-
SARS2 p.Met274Leu
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Pro288Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Pro478Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Pro503Ala Uncertain significance Single submitter
-
SARS2 p.Ser105Arg
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ser364Asn
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ser467Asn
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ser4Phe
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Thr312Ala
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Thr335Lys Uncertain significance Single submitter
-
SARS2 p.Thr335Met
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Thr491Ile Uncertain significance Single submitter
-
SARS2 p.Thr494Ile
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Val113Met Uncertain significance Single submitter
- SARS2 p.Val475Met Uncertain significance Single submitter
- SARS2 p.Val477Leu Uncertain significance Single submitter
- SARS2 p.Gln514Leu Uncertain significance No assertion criteria
Predictors split 51
The independent predictors disagree with each other — read with care.
-
SARS2 p.Ala463Val
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ala73Pro
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg139Trp
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg227Gln
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg265Cys
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg413Gln
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg431Cys
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asn468Lys
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Asp213Asn
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Glu46Lys
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Gly266Arg
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gly383Ser Uncertain significance Multiple submitters
-
SARS2 p.Gly473Ser
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Leu159His
Uncertain significance
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ala186Ser Uncertain significance Single submitter
-
SARS2 p.Ala463Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg104Trp
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg118Trp Conflicting Single submitter
- SARS2 p.Arg141His Likely benign Single submitter
- SARS2 p.Arg146Trp Uncertain significance Single submitter
- SARS2 p.Arg203Trp Uncertain significance Single submitter
-
SARS2 p.Arg219Cys
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg219Leu Uncertain significance Single submitter
-
SARS2 p.Arg232Cys
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg232His
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg265Pro
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg290Cys Uncertain significance Single submitter
-
SARS2 p.Arg402His
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Arg431His
Conflicting
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Arg489Gln Uncertain significance Single submitter
- SARS2 p.Asp310Gly Uncertain significance Single submitter
- SARS2 p.Asp317Gly Uncertain significance Single submitter
-
SARS2 p.Asp59Gly
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Gln217Lys
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Glu362Lys Uncertain significance Single submitter
-
SARS2 p.Glu440Lys
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gly193Arg Uncertain significance Single submitter
-
SARS2 p.Gly486Ser
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Gly502Ser Uncertain significance Single submitter
-
SARS2 p.His205Tyr
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Ile490Phe
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Leu152Gln
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Leu152Met
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Pro276Thr
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
-
SARS2 p.Pro280Leu
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Ser364Gly Uncertain significance Single submitter
-
SARS2 p.Thr449Met
Uncertain significance
Single submitter
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS2 p.Tyr164Cys Uncertain significance Single submitter
- SARS2 p.Val188Gly Uncertain significance Single submitter
- SARS2 p.Val302Leu Uncertain significance Single submitter
- SARS2 p.Val477Met Uncertain significance Single submitter
All SARS2 variants
Pathogenic 2
- c.589+1G>A Single submitter
- p.Phe348Leu No assertion criteria hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Likely pathogenic 3
- c.1413+1G>C Single submitter
- p.Asp390Gly Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Glu352Ala Single submitter SARS2-associated condition
Conflicting classifications of pathogenicity 24
- c.1347+10G>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.364-7C>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.534+10G>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.589+4G>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.590-5T>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.654-11C>G Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.917-4C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Ala167= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Ala300= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Arg104Trp Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg232Cys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg252His Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg31Gly Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg402His Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg431His Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gln130= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Gln201= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Leu296= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Thr259= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Thr439= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Thr439Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Thr449= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Val180Ile Single submitter ⚠
Benign 28
- c.1160+4T>C Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.1161-60G>T Multiple submitters
- c.1254+36A>C Multiple submitters
- c.1413+39C>T Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.267+308A>G Multiple submitters
- c.268-26C>A Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.268-27T>A Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.393+112dup Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.394-138C>T Multiple submitters
- c.590-197G>C Multiple submitters
- c.760-184G>A Multiple submitters
- c.808-66G>T Multiple submitters
- c.916+10TG[2] Multiple submitters
- c.963-40G>C Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*79G>C Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Glu107= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.1160+130G>A Single submitter
- c.1160+278A>G Single submitter
- c.1161-202C>T Single submitter
- c.1161-239T>G Single submitter
- c.1161-275dup Single submitter
- c.1414-17G>C Single submitter
- c.1414-39G>A Single submitter
- c.363+130G>A Single submitter
- c.363+70C>A Single submitter
- c.364-231G>A Single submitter
- c.364-255G>A Single submitter
- c.759+283T>C Single submitter
Benign/Likely benign 10
- c.1254+10G>C Multiple submitters
- c.1348-19G>A Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.364-14C>T Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.393+149del Multiple submitters
- c.963-17T>C Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Arg232= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Asp177= Multiple submitters
- p.Leu511_Gly513dup Multiple submitters
- p.Ser91= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Val192= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Likely benign 116
- c.1051-16G>A Multiple submitters
- c.1347+17C>T Multiple submitters
- c.393+214C>T Multiple submitters
- c.394-97T>C Multiple submitters
- c.534+9C>T Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.589+39C>T Multiple submitters
- c.589+9C>T Multiple submitters
- c.590-150C>T Multiple submitters
- c.653+83G>A Multiple submitters
- c.654-103C>T Multiple submitters
- c.654-17GTCT[2] Multiple submitters
- c.760-5A>G Multiple submitters
- c.807+27G>A Multiple submitters
- c.962+20G>A Multiple submitters
- c.*116C>T Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*99T>G Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Ala463= Multiple submitters
- p.Arg265= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Arg31= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Asp472= Multiple submitters
- p.His222= Multiple submitters
- p.Leu212= Multiple submitters
- p.Leu76= Multiple submitters
- p.Val180= Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.1050+14G>A Single submitter
- c.1051-18C>A Single submitter
- c.1051-4C>G Single submitter
- c.1160+191A>G Single submitter
- c.1160+207G>A Single submitter
- c.1161-10T>A Single submitter
- c.1161-4G>A Single submitter
- c.1161-5C>T Single submitter
- c.1255-4C>T Single submitter
- c.1255-5C>A Single submitter
- c.1347+9C>T Single submitter
- c.1348-14T>C Single submitter
- c.1348-17G>A Single submitter
- c.1413+15G>A Single submitter
- c.1413+17C>T Single submitter
- c.268-289G>C Single submitter
- c.268-32C>A Single submitter
- c.268-33G>T Single submitter
- c.268-5C>G Single submitter
- c.363+12G>A Single submitter
- c.363+261C>G Single submitter
- c.364-12C>G Single submitter
- c.364-166G>A Single submitter
- c.364-213C>T Single submitter
- c.393+19G>T Single submitter
- c.393+201G>A Single submitter
- c.394-16C>G Single submitter
- c.394-16C>T Single submitter
- c.394-8G>T Single submitter
- c.534+13C>T Single submitter
- c.535-20C>T Single submitter
- c.535-25C>T Single submitter
- c.535-5T>C Single submitter
- c.535-7C>G Single submitter
- c.589+143G>T Single submitter
- c.589+19C>T Single submitter
- c.589+7C>G Single submitter
- c.589+7C>T Single submitter
- c.590-19G>A Single submitter
- c.590-46C>T Single submitter
- c.653+18del Single submitter
- c.654-5C>T Single submitter
- c.760-267C>G Single submitter
- c.807+11C>T Single submitter
- c.807+18G>A Single submitter
- c.808-12C>G Single submitter
- c.808-4C>G Single submitter
- c.808-5C>T Single submitter
- c.808-6C>T Single submitter
- c.916+15G>T Single submitter
- c.916+7A>G Single submitter
- c.963-19T>A Single submitter
- c.963-23C>G Single submitter
- c.963-4C>T Single submitter
- c.*225_*232del Single submitter
- p.Ala112= Single submitter
- p.Ala236= Single submitter
- p.Ala400= Single submitter
- p.Ala456= Single submitter
- p.Ala54= Single submitter
- p.Arg141His Single submitter ⚠
- p.Arg415= Single submitter
- p.Asp488= Single submitter
- p.Gln166= Single submitter
- p.Glu156= Single submitter
- p.Glu443= Single submitter
- p.Gly254= Single submitter
- p.His240= Single submitter
- p.Ile286= Single submitter
- p.Ile462= Single submitter
- p.Ile501= Single submitter
- p.Leu120= Single submitter
- p.Leu138= Single submitter
- p.Leu189= Single submitter
- p.Leu250= Single submitter
- p.Leu342= Single submitter
- p.Leu361= Single submitter
- p.Leu367= Single submitter
- p.Leu433= Single submitter
- p.Leu485= Single submitter
- p.Lys134= Single submitter
- p.Lys403= Single submitter
- p.Met191Val Single submitter
- p.Phe416= Single submitter
- p.Pro179= Single submitter
- p.Pro399= Single submitter
- p.Ser199= Single submitter
- p.Thr114= Single submitter
- p.Thr174= Single submitter
- p.Thr335= Single submitter
- p.Thr453= Single submitter
- p.Gly513= No assertion criteria
Uncertain significance 175
- c.759+4T>C Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.-5C>A Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Ala167Val Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala463Val Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala516Ser Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala73Pro Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg118Gln Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg139Trp Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg143Gln Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg143Gly Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg15Pro Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg227Gln Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg227Trp Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg253Gln Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg265Cys Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg330Trp Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg413Gln Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg415His Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg431Cys Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg432Cys Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg432His Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg507Gly Multiple submitters ⚠
- p.Arg77Leu Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asn468Lys Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asp125Asn Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asp213Asn Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asp293Asn Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gln217Pro Multiple submitters ⚠
- p.Glu46Lys Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly266Arg Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly383Ser Multiple submitters ⚠
- p.Gly473Ser Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly513_Pro515del Multiple submitters
- p.Gly513Asp Multiple submitters ⚠
- p.Gly513Ser Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ile286Met Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ile501Val Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu149Pro Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu159His Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu481His Multiple submitters ⚠
- p.Leu498Pro Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Phe200Leu Multiple submitters ⚠
- p.Trp93Ter Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Val150Ile Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Val313Met Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- c.1161-11C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.1255-3C>T Single submitter
- c.1348-13G>A Single submitter
- c.1413+4_1413+6del Single submitter
- c.363+6C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.364-13T>C Single submitter
- c.394-5C>G Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.535-15G>C Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.589+1del Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.653+2_653+3del Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.759+3A>G Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.916+16G>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.916+1G>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.963-10T>C Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.-106A>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.-19G>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*131C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*140C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*224C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*22C>A Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*22C>T Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*250A>G Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- c.*341G>C Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Ala186Ser Single submitter ⚠
- p.Ala234Pro Single submitter ⚠
- p.Ala234Val Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala297Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala314Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala400Asp Single submitter ⚠
- p.Ala400Thr Single submitter ⚠
- p.Ala441Ser Single submitter ⚠
- p.Ala441Thr Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala447Val Single submitter ⚠
- p.Ala463Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala480Val Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ala516Pro Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg187Ter Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Arg19Gly Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg219Cys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg219Leu Single submitter ⚠
- p.Arg227= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Arg232His Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg265His Single submitter ⚠
- p.Arg265Pro Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg340Gln Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg344Pro Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Arg344Ter Single submitter
- p.Arg415Cys Single submitter ⚠
- p.Arg459His Single submitter ⚠
- p.Arg489Gln Single submitter ⚠
- p.Arg507Trp Single submitter ⚠
- p.Asn248Lys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asn277Asp Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asn279Lys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Asn279Tyr Single submitter ⚠
- p.Asp125fs Single submitter
- p.Asp177Glu Single submitter ⚠
- p.Asp194fs Single submitter
- p.Asp310Gly Single submitter ⚠
- p.Asp317Gly Single submitter ⚠
- p.Asp472Leu Single submitter
- p.Asp59Gly Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Cys324Ser Single submitter
- p.Gln162Arg Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gln217Lys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gln363His Single submitter ⚠
- p.Gln429Arg Single submitter ⚠
- p.Gln429Ter Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Gln514Glu Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu115Gly Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Glu362Lys Single submitter ⚠
- p.Glu362Ter Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Glu381fs Single submitter
- p.Glu440Lys Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Glu75fs Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Gly17Glu Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly181Arg Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly193Arg Single submitter ⚠
- p.Gly233Arg Single submitter ⚠
- p.Gly241Ser Single submitter ⚠
- p.Gly486Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Gly502Ser Single submitter ⚠
- p.His205Tyr Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ile490Phe Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu152Gln Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu152Met Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu189Phe Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Leu212Val Single submitter ⚠
- p.Leu384Ter Single submitter
- p.Leu476= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Leu485His Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Met191Thr Single submitter ⚠
- p.Met274Leu Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Pro276Thr Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Pro280Leu Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Pro288Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Pro478Ser Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Pro503Ala Single submitter ⚠
- p.Ser105Arg Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ser364Asn Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ser364Gly Single submitter ⚠
- p.Ser467Asn Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ser4Phe Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Ser83= Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Thr312Ala Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Thr335Lys Single submitter ⚠
- p.Thr335Met Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Thr449Met Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Thr491Ile Single submitter ⚠
- p.Thr494Ile Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
- p.Tyr164Cys Single submitter ⚠
- p.Val113Met Single submitter ⚠
- p.Val178Met Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Val188Gly Single submitter ⚠
- p.Val223Leu Single submitter
- p.Val223Met Single submitter hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- p.Val302Leu Single submitter ⚠
- p.Val351= Single submitter
- p.Val475Met Single submitter ⚠
- p.Val477Leu Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Gln514Leu No assertion criteria ⚠
- p.Glu466fs No assertion criteria