HGF — 325 ClinVar variants
All ClinVar germline HGF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 8 Conflicting · 33 Benign · 6 Benign/Likely benign · 120 Likely benign · 149 Uncertain significance
Full HGF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 134
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- HGF p.Ser611Thr Conflicting Single submitter
- HGF p.Thr605Ile Conflicting Single submitter
-
HGF p.Val631Met
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 39
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HGF p.Ala432Val Uncertain significance Multiple submitters
- HGF p.Ala661Thr Uncertain significance Multiple submitters
- HGF p.Arg168Trp Uncertain significance Multiple submitters
- HGF p.Arg220Gln Uncertain significance Multiple submitters
- HGF p.Arg242Gln Uncertain significance Multiple submitters
-
HGF p.Arg242Trp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 39
- HGF p.Arg350Gln Uncertain significance Multiple submitters
- HGF p.Arg468His Uncertain significance Multiple submitters
- HGF p.Asp252His Uncertain significance Multiple submitters
- HGF p.His645Arg Uncertain significance Multiple submitters
- HGF p.Ile285Thr Uncertain significance Multiple submitters
- HGF p.Leu579Val Uncertain significance Multiple submitters
- HGF p.Leu590Val Uncertain significance Multiple submitters
-
HGF p.Thr490Met
Uncertain significance
Multiple submitters
primary lymphedema
- HGF p.Thr49Asn Uncertain significance Multiple submitters
- HGF p.Thr596Met Uncertain significance Multiple submitters
-
HGF p.Trp2Cys
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 39
- HGF p.Arg134His Uncertain significance Single submitter
- HGF p.Arg168Gln Uncertain significance Single submitter
- HGF p.Arg168Leu Uncertain significance Single submitter
- HGF p.Arg181Gln Uncertain significance Single submitter
- HGF p.Arg35Ile Uncertain significance Single submitter
- HGF p.Arg36Gly Uncertain significance Single submitter
- HGF p.Arg468Pro Uncertain significance Single submitter
- HGF p.Arg502Gly Uncertain significance Single submitter
- HGF p.Arg556Gly Uncertain significance Single submitter
- HGF p.Arg702His Uncertain significance Single submitter
-
HGF p.Asn294Tyr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 39
- HGF p.Asn356His Uncertain significance Single submitter
- HGF p.Asn479Asp Uncertain significance Single submitter
- HGF p.Asn497Ser Uncertain significance Single submitter
- HGF p.Asp252Asn Uncertain significance Single submitter
-
HGF p.Asp264Asn
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 39
- HGF p.Asp338Glu Uncertain significance Single submitter
- HGF p.Asp384Gly Uncertain significance Single submitter
- HGF p.Asp431Glu Uncertain significance Single submitter
- HGF p.Asp543Asn Uncertain significance Single submitter
- HGF p.Asp578Val Uncertain significance Single submitter
- HGF p.Asp598Asn Uncertain significance Single submitter
- HGF p.Glu208Gln Uncertain significance Single submitter
- HGF p.Glu248Ala Uncertain significance Single submitter
- HGF p.Glu311Gly Uncertain significance Single submitter
- HGF p.Glu429Gly Uncertain significance Single submitter
- HGF p.Glu559Asp Uncertain significance Single submitter
- HGF p.Gly131Asp Uncertain significance Single submitter
- HGF p.Gly138Ala Uncertain significance Single submitter
- HGF p.Gly182Glu Uncertain significance Single submitter
- HGF p.Gly186Arg Uncertain significance Single submitter
- HGF p.Gly186Glu Uncertain significance Single submitter
- HGF p.Gly310Ala Uncertain significance Single submitter
- HGF p.Gly31Glu Uncertain significance Single submitter
- HGF p.Gly471Arg Uncertain significance Single submitter
- HGF p.Gly557Arg Uncertain significance Single submitter
- HGF p.Gly671Arg Uncertain significance Single submitter
- HGF p.His18Asn Uncertain significance Single submitter
- HGF p.His277Tyr Uncertain significance Single submitter
- HGF p.His335Tyr Uncertain significance Single submitter
- HGF p.His387Arg Uncertain significance Single submitter
- HGF p.His387Leu Uncertain significance Single submitter
- HGF p.His425Leu Uncertain significance Single submitter
- HGF p.His482Tyr Uncertain significance Single submitter
- HGF p.His633Arg Uncertain significance Single submitter
- HGF p.Ile125Val Uncertain significance Single submitter
- HGF p.Ile130Thr Uncertain significance Single submitter
- HGF p.Ile26Val Uncertain significance Single submitter
- HGF p.Ile426Val Uncertain significance Single submitter
- HGF p.Ile485Thr Uncertain significance Single submitter
-
HGF p.Ile505Val
Uncertain significance
Single submitter
primary lymphedema
- HGF p.Ile606Val Uncertain significance Single submitter
- HGF p.Ile636Val Uncertain significance Single submitter
- HGF p.Ile699Val Uncertain significance Single submitter
- HGF p.Leu21Pro Uncertain significance Single submitter
- HGF p.Leu246Phe Uncertain significance Single submitter
- HGF p.Leu300Trp Uncertain significance Single submitter
- HGF p.Leu458Phe Uncertain significance Single submitter
- HGF p.Leu80Phe Uncertain significance Single submitter
- HGF p.Lys170Glu Uncertain significance Single submitter
- HGF p.Lys253Arg Uncertain significance Single submitter
- HGF p.Lys43Arg Uncertain significance Single submitter
- HGF p.Lys562Arg Uncertain significance Single submitter
- HGF p.Lys714Arg Uncertain significance Single submitter
- HGF p.Met385Thr Uncertain significance Single submitter
- HGF p.Pro251Ala Uncertain significance Single submitter
- HGF p.Pro267Leu Uncertain significance Single submitter
- HGF p.Pro357Thr Uncertain significance Single submitter
- HGF p.Ser106Arg Uncertain significance Single submitter
- HGF p.Ser165Leu Uncertain significance Single submitter
- HGF p.Ser611Asn Uncertain significance Single submitter
- HGF p.Ser643Thr Uncertain significance Single submitter
- HGF p.Thr278Ala Uncertain significance Single submitter
- HGF p.Thr287Ile Uncertain significance Single submitter
- HGF p.Thr474Lys Uncertain significance Single submitter
- HGF p.Thr503Arg Uncertain significance Single submitter
- HGF p.Thr61Asn Uncertain significance Single submitter
- HGF p.Thr61Ser Uncertain significance Single submitter
- HGF p.Thr651Ser Uncertain significance Single submitter
- HGF p.Trp2Arg Uncertain significance Single submitter
- HGF p.Tyr376His Uncertain significance Single submitter
- HGF p.Tyr513His Uncertain significance Single submitter
- HGF p.Tyr544Asn Uncertain significance Single submitter
- HGF p.Tyr635Cys Uncertain significance Single submitter
- HGF p.Val108Met Uncertain significance Single submitter
- HGF p.Val298Ala Uncertain significance Single submitter
- HGF p.Val298Gly Uncertain significance Single submitter
- HGF p.Val3Leu Uncertain significance Single submitter
- HGF p.Val484Ile Uncertain significance Single submitter
- HGF p.Val589Leu Uncertain significance Single submitter
- HGF p.Asn77Asp Uncertain significance No assertion criteria
Predictors split 22
The independent predictors disagree with each other — read with care.
- HGF p.Arg328His Uncertain significance Multiple submitters
- HGF p.Ser228Ala Uncertain significance Multiple submitters
- HGF p.Ala532Val Uncertain significance Single submitter
- HGF p.Ala71Val Uncertain significance Single submitter
- HGF p.Arg314Trp Uncertain significance Single submitter
- HGF p.Arg514Gly Uncertain significance Single submitter
- HGF p.Arg695His Uncertain significance Single submitter
- HGF p.Arg708Gln Uncertain significance Single submitter
- HGF p.Arg73Ser Uncertain significance Single submitter
- HGF p.Asp264Glu Uncertain significance Single submitter
- HGF p.Asp358Asn Uncertain significance Single submitter
- HGF p.Asp543Tyr Conflicting Single submitter
-
HGF p.Cys604Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 39
- HGF p.Gln332Glu Uncertain significance Single submitter
- HGF p.Glu559Lys Uncertain significance Single submitter
- HGF p.Gly621Glu Uncertain significance Single submitter
- HGF p.Gly648Arg Uncertain significance Single submitter
- HGF p.His448Arg Uncertain significance Single submitter
- HGF p.His551Arg Uncertain significance Single submitter
- HGF p.Ile716Leu Uncertain significance Single submitter
- HGF p.Met582Thr Uncertain significance Single submitter
- HGF p.Ser331Phe Uncertain significance Single submitter
All HGF variants
Pathogenic 6
- p.Arg350Ter Single submitter
- p.Leu652delinsGluTer Single submitter
- p.Trp2Ter Single submitter
- p.Trp364Ter Single submitter
- c.482+1991_482+2000del No assertion criteria autosomal recessive nonsyndromic hearing loss 39
- p.Ser165= No assertion criteria autosomal recessive nonsyndromic hearing loss 39
Pathogenic/Likely pathogenic 1
- c.482+1986_482+1988del Multiple submitters HGF-related disorders
Likely pathogenic 2
- c.1616+1G>A Single submitter
- p.Tyr28Ter Single submitter
Conflicting classifications of pathogenicity 8
- p.Asp543Tyr Single submitter ⚠
- p.Asp90= Single submitter
- p.Gln727Ter Single submitter ⚠
- p.Glu336= Single submitter autosomal recessive nonsyndromic hearing loss 39
- p.Ser611Thr Single submitter ⚠
- p.Thr605Ile Single submitter ⚠
- p.Tyr673= Single submitter
- p.Val631Met Single submitter autosomal recessive nonsyndromic hearing loss 39 ⚠
Benign 33
- c.1041-116A>T Multiple submitters
- c.1168+140C>T Multiple submitters
- c.1169-45T>C Multiple submitters
- c.1169-60C>T Multiple submitters
- c.1541+159T>G Multiple submitters
- c.1616+71G>T Multiple submitters
- c.2011-78C>A Multiple submitters
- c.625+110G>A Multiple submitters
- c.626-64C>G Multiple submitters
- c.865+217T>C Multiple submitters
- c.865+513T>C Multiple submitters
- c.865+590T>C Multiple submitters
- c.865+622T>C Multiple submitters
- c.866-22del Multiple submitters autosomal recessive nonsyndromic hearing loss 39
- p.His237= Multiple submitters
- c.1040+209C>T Single submitter
- c.1041-169A>T Single submitter
- c.1169-282G>A Single submitter
- c.1169-303T>C Single submitter
- c.1169-332C>T Single submitter
- c.1272-244C>T Single submitter
- c.1405+128C>T Single submitter
- c.1405+256T>C Single submitter
- c.1541+256G>A Single submitter
- c.1616+167A>G Single submitter
- c.1757+143G>A Single submitter
- c.1758-118del Single submitter
- c.1865-13dup Single submitter
- c.254+188G>A Single submitter
- c.482+287_482+288insCTCTTT Single submitter
- c.483-153A>G Single submitter
- c.88+153dup Single submitter
- p.Gly254= Single submitter
Benign/Likely benign 6
- c.1041-12T>C Multiple submitters
- c.1272-4A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 39
- p.Ala46Val Multiple submitters
- p.Glu111= Multiple submitters
- p.Glu304Lys Multiple submitters
- p.Val589Ile Multiple submitters
Likely benign 120
- c.1272-17G>C Multiple submitters
- c.2010+6A>G Multiple submitters
- c.254+27A>G Multiple submitters
- c.368-20T>C Multiple submitters
- c.368-46A>G Multiple submitters
- c.865+11G>A Multiple submitters
- c.89-22T>A Multiple submitters
- p.Ala86= Multiple submitters
- p.Asp295= Multiple submitters
- p.His335= Multiple submitters
- p.Pro157= Multiple submitters
- p.Thr596= Multiple submitters
- c.1040+11T>C Single submitter
- c.1041-319T>C Single submitter
- c.1041-339A>G Single submitter
- c.1168+231C>A Single submitter
- c.1169-11T>G Single submitter
- c.1169-317C>T Single submitter
- c.1271+190A>T Single submitter
- c.1271+209T>C Single submitter
- c.1272-120A>G Single submitter
- c.1272-17G>A Single submitter
- c.1272-17G>T Single submitter
- c.1405+11T>C Single submitter
- c.1405+20G>C Single submitter
- c.1406-10A>G Single submitter
- c.1406-3C>T Single submitter
- c.1444+282G>A Single submitter
- c.1444+290C>T Single submitter
- c.1444+7A>T Single submitter
- c.1445-152G>A Single submitter
- c.1445-17G>A Single submitter
- c.1445-18T>C Single submitter
- c.1541+221T>C Single submitter
- c.1542-214T>G Single submitter
- c.1616+14A>T Single submitter
- c.1616+22T>C Single submitter
- c.1616+9T>C Single submitter
- c.1617-154G>C Single submitter
- c.1617-175T>G Single submitter
- c.1617-20A>T Single submitter
- c.1617-289A>C Single submitter
- c.1617-34T>C Single submitter
- c.1758-119_1758-118del Single submitter
- c.1758-16T>C Single submitter
- c.1758-261C>A Single submitter
- c.1758-8G>A Single submitter
- c.1865-12_1865-6del Single submitter
- c.1865-12G>A Single submitter
- c.1865-17T>G Single submitter
- c.1865-4C>T Single submitter
- c.2011-13G>A Single submitter
- c.2011-140A>G Single submitter
- c.2011-160A>G Single submitter
- c.2011-32T>G Single submitter
- c.2011-50C>A Single submitter
- c.2011-5C>T Single submitter
- c.255-13A>G Single submitter
- c.255-17T>G Single submitter
- c.367+17T>C Single submitter
- c.368-11T>C Single submitter
- c.482+2006G>A Single submitter
- c.482+22G>A Single submitter
- c.482+286_482+287insCCCTTT Single submitter
- c.482+61A>T Single submitter
- c.483-17T>A Single submitter
- c.483-20G>A Single submitter
- c.483-35C>T Single submitter
- c.483-81C>T Single submitter
- c.625+20A>G Single submitter
- c.625+241C>T Single submitter
- c.626-17_626-16dup Single submitter
- c.626-318C>T Single submitter
- c.626-7T>G Single submitter
- c.746+27A>G Single submitter
- c.747-17C>G Single submitter
- c.747-214T>C Single submitter
- c.865+410dup Single submitter
- c.865+555C>A Single submitter
- c.865+73A>G Single submitter
- c.866-15del Single submitter
- c.866-15G>A Single submitter
- c.866-19T>C Single submitter
- c.866-5A>G Single submitter
- c.88+11TTC[2] Single submitter
- c.88+11TTC[3] Single submitter
- c.88+9C>T Single submitter
- c.89-233A>G Single submitter
- c.89-5A>G Single submitter
- p.Arg35= Single submitter
- p.Asn193= Single submitter
- p.Asn624= Single submitter
- p.Asp264= Single submitter
- p.Asp290= Single submitter
- p.Asp672= Single submitter
- p.Cys535= Single submitter
- p.Gln534= Single submitter
- p.Gln95= Single submitter
- p.Gly449= Single submitter
- p.Gly627= Single submitter
- p.His158= Single submitter
- p.His425= Single submitter
- p.His554= Single submitter
- p.Ile606= Single submitter
- p.Leu118= Single submitter
- p.Leu17= Single submitter
- p.Leu628= Single submitter
- p.Leu634= Single submitter
- p.Leu7= Single submitter
- p.Lys345= Single submitter
- p.Pro251= Single submitter
- p.Pro267= Single submitter
- p.Ser433= Single submitter
- p.Ser568= Single submitter
- p.Thr296= Single submitter
- p.Thr490= Single submitter
- p.Tyr198= Single submitter
- p.Tyr333= Single submitter
- p.Val3= Single submitter
- p.Val580= Single submitter
Uncertain significance 149
- p.Ala432Val Multiple submitters ⚠
- p.Ala661Thr Multiple submitters ⚠
- p.Arg168Trp Multiple submitters ⚠
- p.Arg220Gln Multiple submitters ⚠
- p.Arg242Gln Multiple submitters ⚠
- p.Arg242Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 39 ⚠
- p.Arg328His Multiple submitters ⚠
- p.Arg350Gln Multiple submitters ⚠
- p.Arg468His Multiple submitters ⚠
- p.Asp252His Multiple submitters ⚠
- p.His645Arg Multiple submitters ⚠
- p.Ile285Thr Multiple submitters ⚠
- p.Leu579Val Multiple submitters ⚠
- p.Leu590Val Multiple submitters ⚠
- p.Ser228Ala Multiple submitters ⚠
- p.Thr490Met Multiple submitters primary lymphedema ⚠
- p.Thr49Asn Multiple submitters ⚠
- p.Thr596Met Multiple submitters ⚠
- p.Trp2Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 39 ⚠
- c.1041-4A>G Single submitter
- c.1272-5_1272-4inv Single submitter
- c.1444+6T>C Single submitter autosomal recessive nonsyndromic hearing loss 39
- c.2011-3dup Single submitter
- c.482+5G>C Single submitter
- c.866-12T>G Single submitter
- p.Ala532Val Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Arg134Cys Single submitter
- p.Arg134His Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg168Leu Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg268Gly Single submitter
- p.Arg279Cys Single submitter
- p.Arg314Trp Single submitter ⚠
- p.Arg328Cys Single submitter
- p.Arg328Gly Single submitter
- p.Arg328Leu Single submitter autosomal recessive nonsyndromic hearing loss 39
- p.Arg35Ile Single submitter ⚠
- p.Arg36del Single submitter
- p.Arg36Gly Single submitter ⚠
- p.Arg424= Single submitter
- p.Arg468Pro Single submitter ⚠
- p.Arg502Gly Single submitter ⚠
- p.Arg514Gly Single submitter ⚠
- p.Arg556Gly Single submitter ⚠
- p.Arg695His Single submitter ⚠
- p.Arg702His Single submitter ⚠
- p.Arg708Gln Single submitter ⚠
- p.Arg73Ser Single submitter ⚠
- p.Asn294Tyr Single submitter autosomal recessive nonsyndromic hearing loss 39 ⚠
- p.Asn356His Single submitter ⚠
- p.Asn418Thr Single submitter
- p.Asn479Asp Single submitter ⚠
- p.Asn497Ser Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp264Asn Single submitter autosomal recessive nonsyndromic hearing loss 39 ⚠
- p.Asp264Glu Single submitter ⚠
- p.Asp338Glu Single submitter ⚠
- p.Asp358Asn Single submitter ⚠
- p.Asp384Gly Single submitter ⚠
- p.Asp431Glu Single submitter ⚠
- p.Asp543Asn Single submitter ⚠
- p.Asp578Val Single submitter ⚠
- p.Asp598Asn Single submitter ⚠
- p.Cys604Arg Single submitter autosomal recessive nonsyndromic hearing loss 39 ⚠
- p.Gln332Glu Single submitter ⚠
- p.Gln534His Single submitter
- p.Glu208Gln Single submitter ⚠
- p.Glu248Ala Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu429Gly Single submitter ⚠
- p.Glu559Asp Single submitter ⚠
- p.Glu559Lys Single submitter ⚠
- p.Gly131Asp Single submitter ⚠
- p.Gly138Ala Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Gly186Arg Single submitter ⚠
- p.Gly186Glu Single submitter ⚠
- p.Gly310Ala Single submitter ⚠
- p.Gly31Glu Single submitter ⚠
- p.Gly471Arg Single submitter ⚠
- p.Gly506= Single submitter
- p.Gly557Arg Single submitter ⚠
- p.Gly621Glu Single submitter ⚠
- p.Gly648Arg Single submitter ⚠
- p.Gly671Arg Single submitter ⚠
- p.His18Asn Single submitter ⚠
- p.His277Tyr Single submitter ⚠
- p.His335Tyr Single submitter ⚠
- p.His387Arg Single submitter ⚠
- p.His387Leu Single submitter ⚠
- p.His425Leu Single submitter ⚠
- p.His448Arg Single submitter ⚠
- p.His482Tyr Single submitter ⚠
- p.His551Arg Single submitter ⚠
- p.His633Arg Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile130Thr Single submitter ⚠
- p.Ile26Val Single submitter ⚠
- p.Ile426Val Single submitter ⚠
- p.Ile485Thr Single submitter ⚠
- p.Ile505Val Single submitter primary lymphedema ⚠
- p.Ile518Thr Single submitter
- p.Ile606Val Single submitter ⚠
- p.Ile636Val Single submitter ⚠
- p.Ile699Val Single submitter ⚠
- p.Ile716Leu Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu246Phe Single submitter ⚠
- p.Leu300Trp Single submitter ⚠
- p.Leu458Phe Single submitter ⚠
- p.Leu80Phe Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys43Arg Single submitter ⚠
- p.Lys562Arg Single submitter ⚠
- p.Lys714Arg Single submitter ⚠
- p.Met385Thr Single submitter ⚠
- p.Met582Thr Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro357Thr Single submitter ⚠
- p.Ser106Arg Single submitter ⚠
- p.Ser165Leu Single submitter ⚠
- p.Ser331Phe Single submitter ⚠
- p.Ser611Asn Single submitter ⚠
- p.Ser643Thr Single submitter ⚠
- p.Ser728Ter Single submitter hearing loss disorder
- p.Thr239= Single submitter
- p.Thr278Ala Single submitter ⚠
- p.Thr287Ile Single submitter ⚠
- p.Thr474Lys Single submitter ⚠
- p.Thr503Arg Single submitter ⚠
- p.Thr61Asn Single submitter ⚠
- p.Thr61Ser Single submitter ⚠
- p.Thr651Ser Single submitter ⚠
- p.Trp2Arg Single submitter ⚠
- p.Tyr376His Single submitter ⚠
- p.Tyr513His Single submitter ⚠
- p.Tyr544Asn Single submitter ⚠
- p.Tyr635Cys Single submitter ⚠
- p.Val108Met Single submitter ⚠
- p.Val298Ala Single submitter ⚠
- p.Val298Gly Single submitter ⚠
- p.Val3Leu Single submitter ⚠
- p.Val484Ile Single submitter ⚠
- p.Val589Leu Single submitter ⚠
- p.Asn77Asp No assertion criteria ⚠