ELN — 1257 ClinVar variants

All ClinVar germline ELN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 443 flagged for review →

122 Pathogenic · 13 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 72 Conflicting · 57 Benign · 43 Benign/Likely benign · 377 Likely benign · 515 Uncertain significance

Full ELN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 443

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ELN p.Leu540Val Pathogenic Single submitter
supravalvular aortic stenosis
ELN p.Lys315Arg Pathogenic Single submitter
supravalvular aortic stenosis

Predictors agree, ClinVar conflicts 12

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ELN p.Ala158Val Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Ala401Val Conflicting Single submitter
Inborn genetic diseases
ELN p.Ala566Val Conflicting Single submitter
Inborn genetic diseases
ELN p.Arg25Gln Conflicting Single submitter
Inborn genetic diseases
ELN p.Gly109Asp Conflicting Single submitter
cardiomyopathy
ELN p.Gly12Val Conflicting Single submitter
cutis laxa, autosomal dominant 1
ELN p.Gly139Glu Conflicting Single submitter
cutis laxa, autosomal dominant 1
ELN p.Gly237Ala Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Gly687Glu Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Pro220Leu Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Pro667Ser Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Val346Ile Conflicting Single submitter
supravalvular aortic stenosis

Predicted LoF vs a conflicting call 10

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.

ELN c.1150+1G>A Conflicting Single submitter
Hypertelorism
ELN c.1357+1G>A Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1577-2A>T Conflicting Single submitter
supravalvular aortic stenosis
ELN c.164-2A>C Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1993+1G>A Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1994-2A>C Conflicting Single submitter
supravalvular aortic stenosis
ELN c.2087-1G>A Conflicting Single submitter
ELN c.469+1G>A Conflicting Single submitter
Inborn genetic diseases
ELN c.542-1G>C Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Gln691fs Conflicting Single submitter
ELN-related disorder

Predictors lean, ClinVar uncertain 92

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ELN c.1747+36G>A Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN c.1747+81A>G Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala363Val Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala418Pro Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala582Val Uncertain significance Multiple submitters
ELN-related disorder
ELN p.Ala84Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala84Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Arg159Gln Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly12Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly148Asp Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly162Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly233Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ELN p.Gly284Asp Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly31Glu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly348Glu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly398Arg Uncertain significance Multiple submitters
ELN-related disorder
ELN p.Gly398Trp Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly49Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly52Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly651Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly662Ala Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly702Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Leu51Pro Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Phe195Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro132Leu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro142Gln Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro198Leu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro710Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Pro88Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Pro9Leu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Thr300Ser Uncertain significance Multiple submitters
Inguinal hernia
ELN p.Thr456Ala Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Tyr230Phe Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Val411Ala Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN c.1358-183G>C Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-186C>T Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-208G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-247G>C Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+15G>C Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+22G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+71C>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+85C>T Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+93C>T Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala127Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala173Val Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Ala185Gly Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala187Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala288Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala418Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala55Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala608Val Uncertain significance Single submitter
ELN p.Ala621Gly Uncertain significance Single submitter
ELN p.Ala689Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly113Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly119Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly143Ser Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly157Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly201Ala Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly215Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly243Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly272Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly291Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly291Glu Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly297Asp Uncertain significance Single submitter
ELN p.Gly297Val Uncertain significance Single submitter
ELN p.Gly343Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly350Glu Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly35Asp Uncertain significance Single submitter
ELN p.Gly39Glu Uncertain significance Single submitter
ELN p.Gly453Arg Uncertain significance Single submitter
ELN p.Gly472Glu Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly678Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly716Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Gly716Glu Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Gly78Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Leu641Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Pro147Arg Uncertain significance Single submitter
ELN p.Pro147Leu Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Pro161Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Pro161His Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Pro161Leu Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Pro23Leu Uncertain significance Single submitter
ELN p.Ser124Pro Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Thr396Asn Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Thr5Arg Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Thr5Met Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
ELN p.Val141Gly Uncertain significance Single submitter
ELN p.Val298Ala Uncertain significance Single submitter
Williams syndrome
ELN p.Val534Leu Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Val612Leu Uncertain significance Single submitter
ELN-related disorder
ELN p.Val66Ala Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Val13Ile Uncertain significance No assertion criteria
ELN-related disorder

Predictors split 327

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 327

ELN c.1358-199G>A Uncertain significance Multiple submitters
Williams syndrome
ELN c.1358-232G>C Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN c.1358-253G>A Likely benign Multiple submitters
supravalvular aortic stenosis
ELN c.1747+82C>A Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Ala110Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
ELN p.Ala305Val Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala306Val Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala311Thr Benign Multiple submitters
supravalvular aortic stenosis
ELN p.Ala362Pro Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala380Thr Uncertain significance Multiple submitters
cutis laxa, autosomal dominant 1
ELN p.Ala441Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala447Thr Uncertain significance Multiple submitters
ELN-related disorder
ELN p.Ala450Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala458Glu Uncertain significance Multiple submitters
cutis laxa, autosomal dominant 1
ELN p.Ala466Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala468Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala469Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala510Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala525Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala536Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala590Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala624Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala625Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala626Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala629Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala632Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala637Ser Uncertain significance Multiple submitters
ELN-related disorder
ELN p.Ala674Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Ala6Val Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala71Val Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Ala7Val Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Ala99Thr Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Arg10Trp Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Arg721Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly135Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly197Glu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly267Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly269Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly343Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly384Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly390Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly3Asp Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly406Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly422Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly424Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly424Glu Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Gly428Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly430Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly434Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly455Arg Uncertain significance Multiple submitters
Williams syndrome
ELN p.Gly47Ala Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly506Val Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly508Asp Uncertain significance Multiple submitters
ELN p.Gly581Arg Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Gly607Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly610Ser Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Gly648Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly648Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly649Ala Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly649Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly653Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly654Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly678Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly684Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Gly68Arg Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Gly94Arg Uncertain significance Multiple submitters
ELN p.Lys463Arg Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Lys467Glu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Lys724Ile Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Phe639Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Phe703Leu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Phe87Leu Benign/Likely benign Multiple submitters
cutis laxa, autosomal dominant 1
ELN p.Pro198Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Pro301Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Pro337Ser Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro427Ala Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Pro433Leu Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Pro487Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Thr456Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Val165Leu Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Val298Ile Benign/Likely benign Multiple submitters
supravalvular aortic stenosis
ELN p.Val411Gly Benign Multiple submitters
supravalvular aortic stenosis
ELN p.Val435Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Val491Met Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Val503Met Benign/Likely benign Multiple submitters
cutis laxa, autosomal dominant 1
ELN p.Val515Met Uncertain significance Multiple submitters
Inborn genetic diseases
ELN p.Val568Ile Uncertain significance Multiple submitters
supravalvular aortic stenosis
ELN p.Val697Met Uncertain significance Multiple submitters
Inborn genetic diseases
ELN c.1358-174C>T Uncertain significance Single submitter
ELN c.1358-183G>A Uncertain significance Single submitter
ELN c.1358-192C>T Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1358-196G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-198G>A Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1358-216C>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-225T>C Conflicting Single submitter
supravalvular aortic stenosis
ELN c.1358-226G>C Uncertain significance Single submitter
ELN c.1358-234G>C Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-235G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-241G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-243G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1358-244G>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+21C>T Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+27C>A Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+31C>A Likely benign Single submitter
ELN c.1747+39C>T Uncertain significance Single submitter
ELN c.1747+64C>T Uncertain significance Single submitter
supravalvular aortic stenosis
ELN c.1747+69C>T Uncertain significance Single submitter
ELN c.1747+93C>A Uncertain significance Single submitter
ELN p.Ala102Gly Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala106Pro Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala106Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala110Thr Conflicting Single submitter
familial atrioventricular septal defect
ELN p.Ala254Val Uncertain significance Single submitter
ELN p.Ala255Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala256Val Conflicting Single submitter
cutis laxa, autosomal dominant 1
ELN p.Ala258Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala262Gly Uncertain significance Single submitter
ELN p.Ala262Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala2Glu Conflicting Single submitter
supravalvular aortic stenosis
ELN p.Ala2Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala304Gly Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala305Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala306Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala32Ser Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala349Pro Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala349Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala378Ser Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Ala378Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala401Gly Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Ala401Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala441Val Conflicting Single submitter
Inborn genetic diseases
ELN p.Ala445Asp Uncertain significance Single submitter
ELN p.Ala450Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala458Gly Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala458Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala458Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala460Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala462Asp Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala466Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala469Ser Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala469Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala531Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala532Thr Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala535Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala586Ser Conflicting Single submitter
Inborn genetic diseases
ELN p.Ala588Val Uncertain significance Single submitter
supravalvular aortic stenosis
ELN p.Ala597Val Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Ala598Pro Uncertain significance Single submitter
Inborn genetic diseases
ELN p.Ala598Val Uncertain significance Single submitter
ELN p.Ala621Thr Conflicting Single submitter
cutis laxa, autosomal dominant 1

All ELN variants

Pathogenic 122

c.800-2A>G Multiple submitters supravalvular aortic stenosis
c.800-3C>G Multiple submitters Inborn genetic diseases
p.Ala288fs Multiple submitters supravalvular aortic stenosis
p.Ala99fs Multiple submitters supravalvular aortic stenosis
p.Arg541Ter Multiple submitters ELN-related disorder
p.Gln131Ter Multiple submitters Inborn genetic diseases
p.Gln442Ter Multiple submitters supravalvular aortic stenosis
p.Gly428Ter Multiple submitters supravalvular aortic stenosis
p.Gly688fs Multiple submitters ELN-related disorder
p.Pro347fs Multiple submitters supravalvular aortic stenosis
p.Pro58fs Multiple submitters supravalvular aortic stenosis
p.Ser24fs Multiple submitters supravalvular aortic stenosis
p.Val282fs Multiple submitters supravalvular aortic stenosis
p.Val368fs Multiple submitters supravalvular aortic stenosis
c.1097-1G>A Single submitter supravalvular aortic stenosis
c.163+1G>T Single submitter
c.163+2T>A Single submitter supravalvular aortic stenosis
c.163+2T>C Single submitter supravalvular aortic stenosis
c.1747+48G>T Single submitter supravalvular aortic stenosis
c.1859_1865del Single submitter supravalvular aortic stenosis
c.1918+1G>A Single submitter supravalvular aortic stenosis
c.643+1_643+2delinsAG Single submitter supravalvular aortic stenosis
c.82+1G>C Single submitter supravalvular aortic stenosis
c.82+2T>A Single submitter supravalvular aortic stenosis
c.889+2T>C Single submitter supravalvular aortic stenosis
c.890-1G>A Single submitter supravalvular aortic stenosis
c.890-2A>G Single submitter supravalvular aortic stenosis
c.(?_-60 Single submitter supravalvular aortic stenosis
p.Ala134fs Single submitter supravalvular aortic stenosis
p.Ala185fs Single submitter supravalvular aortic stenosis
p.Ala259fs Single submitter supravalvular aortic stenosis
p.Ala263fs Single submitter supravalvular aortic stenosis
p.Ala304fs Single submitter supravalvular aortic stenosis
p.Ala305fs Single submitter
p.Ala320fs Single submitter
p.Ala32fs Single submitter supravalvular aortic stenosis
p.Ala362fs Single submitter supravalvular aortic stenosis
p.Ala372fs Single submitter supravalvular aortic stenosis
p.Ala401fs Single submitter supravalvular aortic stenosis
p.Ala465fs Single submitter supravalvular aortic stenosis
p.Ala50fs Single submitter supravalvular aortic stenosis
p.Ala531fs Single submitter supravalvular aortic stenosis
p.Ala566fs Single submitter ELN-related disorder
p.Ala582fs Single submitter supravalvular aortic stenosis
p.Arg386fs Single submitter supravalvular aortic stenosis
p.Glu371fs Single submitter supravalvular aortic stenosis
p.Gly117fs Single submitter supravalvular aortic stenosis
p.Gly122Ter Single submitter supravalvular aortic stenosis
p.Gly135Ter Single submitter supravalvular aortic stenosis
p.Gly139fs Single submitter supravalvular aortic stenosis
p.Gly197fs Single submitter
p.Gly243fs Single submitter
p.Gly272Ter Single submitter supravalvular aortic stenosis
p.Gly278Ter Single submitter supravalvular aortic stenosis
p.Gly284fs Single submitter
p.Gly388fs Single submitter
p.Gly390Ter Single submitter supravalvular aortic stenosis
p.Gly3fs Single submitter supravalvular aortic stenosis
p.Gly403fs Single submitter supravalvular aortic stenosis
p.Gly410fs Single submitter supravalvular aortic stenosis
p.Gly431fs Single submitter supravalvular aortic stenosis
p.Gly478fs Single submitter
p.Gly552Ter Single submitter supravalvular aortic stenosis
p.Gly622fs Single submitter supravalvular aortic stenosis
p.Gly643fs Single submitter
p.Gly653Ter Single submitter supravalvular aortic stenosis
p.Ile20fs Single submitter supravalvular aortic stenosis
p.Ile295fs Single submitter supravalvular aortic stenosis
p.Ile33fs Single submitter supravalvular aortic stenosis
p.Leu146fs Single submitter supravalvular aortic stenosis
p.Leu15fs Single submitter supravalvular aortic stenosis
p.Leu204fs Single submitter supravalvular aortic stenosis
p.Leu540Val Single submitter supravalvular aortic stenosis ⚠
p.Leu606fs Single submitter supravalvular aortic stenosis
p.Lys212Ter Single submitter supravalvular aortic stenosis
p.Lys225fs Single submitter supravalvular aortic stenosis
p.Lys225Ter Single submitter
p.Lys315Arg Single submitter supravalvular aortic stenosis ⚠
p.Lys451Ter Single submitter supravalvular aortic stenosis
p.Lys64fs Single submitter supravalvular aortic stenosis
p.Met1Val Single submitter supravalvular aortic stenosis
p.Phe160fs Single submitter
p.Phe195fs Single submitter supravalvular aortic stenosis
p.Phe407fs Single submitter supravalvular aortic stenosis
p.Phe82fs Single submitter supravalvular aortic stenosis
p.Pro151fs Single submitter
p.Pro203fs Single submitter supravalvular aortic stenosis
p.Pro211Ser Single submitter ⚠
p.Pro290fs Single submitter supravalvular aortic stenosis
p.Pro44fs Single submitter supravalvular aortic stenosis
p.Pro475fs Single submitter supravalvular aortic stenosis
p.Pro560fs Single submitter supravalvular aortic stenosis
p.Pro569fs Single submitter supravalvular aortic stenosis
p.Pro658fs Single submitter supravalvular aortic stenosis
p.Pro93fs Single submitter supravalvular aortic stenosis
p.Pro9fs Single submitter supravalvular aortic stenosis
p.Ser369fs Single submitter Williams syndrome
p.Thr396_Tyr397insTer Single submitter supravalvular aortic stenosis
p.Tyr150Ter Single submitter supravalvular aortic stenosis
p.Tyr206Ter Single submitter
p.Tyr221fs Single submitter supravalvular aortic stenosis
p.Tyr221Ter Single submitter supravalvular aortic stenosis
p.Tyr230Ter Single submitter supravalvular aortic stenosis
p.Tyr316fs Single submitter supravalvular aortic stenosis
p.Tyr316Ter Single submitter supravalvular aortic stenosis
p.Tyr397_Gly400delinsTer Single submitter supravalvular aortic stenosis
p.Tyr397Ter Single submitter supravalvular aortic stenosis
p.Tyr595Ter Single submitter supravalvular aortic stenosis
p.Val128fs Single submitter supravalvular aortic stenosis
p.Val141fs Single submitter supravalvular aortic stenosis
p.Val399fs Single submitter
p.Val429fs Single submitter supravalvular aortic stenosis
p.Val485fs Single submitter supravalvular aortic stenosis
p.Val495fs Single submitter supravalvular aortic stenosis
p.Val573fs Single submitter
p.Val583fs Single submitter supravalvular aortic stenosis
c.1858+5G>C No assertion criteria supravalvular aortic stenosis
p.Gly649fs No assertion criteria cutis laxa, autosomal dominant 1
p.Gly94fs No assertion criteria ELN-related disorder
p.Lys176Ter No assertion criteria supravalvular aortic stenosis
p.Phe580fs No assertion criteria supravalvular aortic stenosis
p.Val577fs No assertion criteria supravalvular aortic stenosis

Pathogenic/Likely pathogenic 13

c.2032+1G>A Multiple submitters supravalvular aortic stenosis
c.377-2A>G Multiple submitters supravalvular aortic stenosis
c.643+1G>A Multiple submitters
c.800-1G>A Multiple submitters ELN-related disorder
c.82+1G>A Multiple submitters supravalvular aortic stenosis
c.889+1G>A Multiple submitters supravalvular aortic stenosis
p.Gln253fs Multiple submitters supravalvular aortic stenosis
p.Gly514fs Multiple submitters supravalvular aortic stenosis
p.Gly620Ter Multiple submitters supravalvular aortic stenosis
p.Leu56fs Multiple submitters Williams syndrome
p.Met1Thr Multiple submitters supravalvular aortic stenosis
p.Pro578fs Multiple submitters supravalvular aortic stenosis
p.Tyr383Ter Multiple submitters supravalvular aortic stenosis

Likely pathogenic 58

c.643+1G>C Multiple submitters supravalvular aortic stenosis
c.686-2A>G Multiple submitters supravalvular aortic stenosis
p.Ala718fs Multiple submitters cutis laxa, autosomal dominant 1
c.133+1G>T Single submitter supravalvular aortic stenosis
c.134-1G>A Single submitter
c.1357+1G>T Single submitter Inborn genetic diseases
c.1414+1G>C Single submitter supravalvular aortic stenosis
c.1576+1G>A Single submitter supravalvular aortic stenosis
c.1576+2T>A Single submitter supravalvular aortic stenosis
c.1621+1G>C Single submitter supravalvular aortic stenosis
c.1747+100del Single submitter
c.1747+100G>C Single submitter supravalvular aortic stenosis
c.1747+2delinsGAGTTAG Single submitter supravalvular aortic stenosis
c.1786+1G>A Single submitter supravalvular aortic stenosis
c.1858+1G>A Single submitter supravalvular aortic stenosis
c.1859-1G>A Single submitter
c.1919-1G>A Single submitter supravalvular aortic stenosis
c.2033-1G>C Single submitter supravalvular aortic stenosis
c.2132-7C>A Single submitter
c.326-1G>A Single submitter supravalvular aortic stenosis
c.326-1G>T Single submitter supravalvular aortic stenosis
c.376+1G>T Single submitter supravalvular aortic stenosis
c.377-1G>T Single submitter supravalvular aortic stenosis
c.469+2T>C Single submitter supravalvular aortic stenosis
c.470-37_470del Single submitter supravalvular aortic stenosis
c.542-2A>T Single submitter supravalvular aortic stenosis
c.572-1G>A Single submitter
c.686-1G>A Single submitter supravalvular aortic stenosis
c.746-2A>T Single submitter supravalvular aortic stenosis
c.799+1G>A Single submitter supravalvular aortic stenosis
c.799+2T>C Single submitter supravalvular aortic stenosis
c.889+1G>C Single submitter supravalvular aortic stenosis
c.889+1G>T Single submitter
p.Ala357fs Single submitter supravalvular aortic stenosis
p.Ala468fs Single submitter
p.Ala516fs Single submitter supravalvular aortic stenosis
p.Ala73fs Single submitter supravalvular aortic stenosis
p.Gly114fs Single submitter supravalvular aortic stenosis
p.Gly410Ter Single submitter
p.Gly413fs Single submitter
p.Gly416fs Single submitter supravalvular aortic stenosis
p.Gly45Arg Single submitter
p.Gly653fs Single submitter cutis laxa, autosomal dominant 1
p.Leu15Pro Single submitter ⚠
p.Lys594fs Single submitter cutis laxa, autosomal dominant 1
p.Met1Lys Single submitter supravalvular aortic stenosis
p.Pro30fs Single submitter supravalvular aortic stenosis
p.Pro352fs Single submitter supravalvular aortic stenosis
p.Pro693fs Single submitter supravalvular aortic stenosis
p.Ser24Phe Single submitter supravalvular aortic stenosis ⚠
p.Thr248fs Single submitter supravalvular aortic stenosis
p.Tyr228Ter Single submitter ELN-related disorder
p.Tyr677Ter Single submitter
p.Val323fs Single submitter supravalvular aortic stenosis
p.Val334fs Single submitter
c.1859-2A>T No assertion criteria ELN-related disorder
c.2132-10_*10del No assertion criteria supravalvular aortic stenosis
p.Arg721fs No assertion criteria cutis laxa, autosomal dominant 1

Conflicting classifications of pathogenicity 72

c.1150+1G>A Single submitter Hypertelorism ⚠
c.133+5C>T Single submitter supravalvular aortic stenosis
c.134-16T>C Single submitter Williams syndrome
c.1357+1G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-192C>T Single submitter supravalvular aortic stenosis ⚠
c.1358-198G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-225T>C Single submitter supravalvular aortic stenosis ⚠
c.1415-9A>G Single submitter
c.1577-2A>T Single submitter supravalvular aortic stenosis ⚠
c.1621+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
c.1622-6C>T Single submitter supravalvular aortic stenosis
c.163+13A>G Single submitter supravalvular aortic stenosis
c.164-2A>C Single submitter supravalvular aortic stenosis ⚠
c.1993+1G>A Single submitter supravalvular aortic stenosis ⚠
c.1994-2A>C Single submitter supravalvular aortic stenosis ⚠
c.1994-7T>G Single submitter cutis laxa, autosomal dominant 1
c.2087-1G>A Single submitter ⚠
c.2131+14C>T Single submitter supravalvular aortic stenosis
c.232+3G>A Single submitter supravalvular aortic stenosis
c.376+5G>A Single submitter supravalvular aortic stenosis
c.469+1G>A Single submitter Inborn genetic diseases ⚠
c.470-10C>G Single submitter cutis laxa, autosomal dominant 1
c.542-1G>C Single submitter supravalvular aortic stenosis ⚠
c.686-5T>G Single submitter supravalvular aortic stenosis
p.479VAPGVG[1] Single submitter cutis laxa, autosomal dominant 1
p.501VGVAPG[1] Single submitter supravalvular aortic stenosis
p.562LGVGAGVPG[1] Single submitter supravalvular aortic stenosis
p.Ala110Thr Single submitter familial atrioventricular septal defect ⚠
p.Ala158Val Single submitter supravalvular aortic stenosis ⚠
p.Ala256Val Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Ala2Glu Single submitter supravalvular aortic stenosis ⚠
p.Ala401Val Single submitter Inborn genetic diseases ⚠
p.Ala441Val Single submitter Inborn genetic diseases ⚠
p.Ala566Val Single submitter Inborn genetic diseases ⚠
p.Ala586Ser Single submitter Inborn genetic diseases ⚠
p.Ala621Thr Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Ala627Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala628= Single submitter supravalvular aortic stenosis
p.Ala637Thr Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Arg25Gln Single submitter Inborn genetic diseases ⚠
p.Gln691fs Single submitter ELN-related disorder ⚠
p.Gly109Asp Single submitter cardiomyopathy ⚠
p.Gly12Val Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Gly139Glu Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Gly216Val Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Gly237Ala Single submitter supravalvular aortic stenosis ⚠
p.Gly287= Single submitter cutis laxa, autosomal dominant 1
p.Gly393_Gly400del Single submitter supravalvular aortic stenosis
p.Gly412Arg Single submitter supravalvular aortic stenosis ⚠
p.Gly53= Single submitter supravalvular aortic stenosis
p.Gly547Asp Single submitter supravalvular aortic stenosis ⚠
p.Gly581Gln Single submitter supravalvular aortic stenosis
p.Gly617Ser Single submitter supravalvular aortic stenosis ⚠
p.Gly687Glu Single submitter supravalvular aortic stenosis ⚠
p.Gly690Arg Single submitter Inborn genetic diseases ⚠
p.Leu497_Gly502del Single submitter supravalvular aortic stenosis
p.Leu609Phe Single submitter supravalvular aortic stenosis ⚠
p.Phe160Leu Single submitter supravalvular aortic stenosis ⚠
p.Pro198= Single submitter supravalvular aortic stenosis
p.Pro220Leu Single submitter supravalvular aortic stenosis ⚠
p.Pro331Leu Single submitter Inborn genetic diseases ⚠
p.Pro427= Single submitter supravalvular aortic stenosis
p.Pro667Ser Single submitter supravalvular aortic stenosis ⚠
p.Pro693Ser Single submitter supravalvular aortic stenosis ⚠
p.Pro93Leu Single submitter cutis laxa, autosomal dominant 1 ⚠
p.Tyr383= Single submitter supravalvular aortic stenosis
p.Tyr452= Single submitter supravalvular aortic stenosis
p.Val154Met Single submitter supravalvular aortic stenosis ⚠
p.Val285Met Single submitter supravalvular aortic stenosis ⚠
p.Val346Ile Single submitter supravalvular aortic stenosis ⚠
p.Val513Ile Single submitter Inborn genetic diseases ⚠
p.Val559Ile Single submitter supravalvular aortic stenosis ⚠

Benign 57

c.1096+12TG[17] Multiple submitters supravalvular aortic stenosis
c.1096+12TG[18] Multiple submitters supravalvular aortic stenosis
c.1096+12TG[20] Multiple submitters supravalvular aortic stenosis
c.1150+70C>T Multiple submitters
c.1315+17C>T Multiple submitters supravalvular aortic stenosis
c.133+102G>A Multiple submitters
c.134-5C>A Multiple submitters supravalvular aortic stenosis
c.1414+20G>A Multiple submitters supravalvular aortic stenosis
c.1414+24C>T Multiple submitters cutis laxa, autosomal dominant 1
c.196+194G>A Multiple submitters
c.196+71G>A Multiple submitters
c.197-162G>A Multiple submitters
c.2033-16A>G Multiple submitters supravalvular aortic stenosis
c.2086+242G>A Multiple submitters
c.2086+5G>C Multiple submitters supravalvular aortic stenosis
c.2087-34C>T Multiple submitters
c.233-94G>A Multiple submitters
c.326-59G>A Multiple submitters
c.427+92G>C Multiple submitters
c.470-25C>T Multiple submitters
c.*548G>A Multiple submitters cutis laxa, autosomal dominant 1
p.Ala311Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala446= Multiple submitters supravalvular aortic stenosis
p.Val411Gly Multiple submitters supravalvular aortic stenosis ⚠
c.1096+12TG[16] Single submitter supravalvular aortic stenosis
c.1096+12TG[21] Single submitter supravalvular aortic stenosis
c.1097-231dup Single submitter
c.1151-172del Single submitter
c.133+11T>C Single submitter supravalvular aortic stenosis
c.134-5del Single submitter supravalvular aortic stenosis
c.134-5dup Single submitter supravalvular aortic stenosis
c.1358-236G>A Single submitter supravalvular aortic stenosis
c.1414+11del Single submitter supravalvular aortic stenosis
c.1414+180A>G Single submitter
c.1621+12G>A Single submitter supravalvular aortic stenosis
c.1747+80C>T Single submitter supravalvular aortic stenosis
c.1748-20C>T Single submitter supravalvular aortic stenosis
c.1786+306G>A Single submitter
c.1787-260C>T Single submitter
c.1918+19T>G Single submitter supravalvular aortic stenosis
c.197-270T>C Single submitter
c.1994-280C>A Single submitter
c.2087-257G>A Single submitter
c.2132-16A>G Single submitter supravalvular aortic stenosis
c.2132-286A>G Single submitter
c.233-174dup Single submitter
c.469+14G>A Single submitter supravalvular aortic stenosis
c.571+19G>A Single submitter supravalvular aortic stenosis
c.949+8_949+19del Single submitter supravalvular aortic stenosis
c.*1194A>G Single submitter
c.*1195C>T Single submitter cutis laxa, autosomal dominant 1
c.*383T>G Single submitter supravalvular aortic stenosis
c.*562A>C Single submitter cutis laxa, autosomal dominant 1
c.*636G>A Single submitter cutis laxa, autosomal dominant 1
c.*659G>C Single submitter
p.Ala377= Single submitter supravalvular aortic stenosis
p.Ala468= Single submitter supravalvular aortic stenosis

Benign/Likely benign 43

c.1096+12TG[22] Multiple submitters supravalvular aortic stenosis
c.133+16C>A Multiple submitters supravalvular aortic stenosis
c.134-19T>C Multiple submitters supravalvular aortic stenosis
c.1358-268A>G Multiple submitters supravalvular aortic stenosis
c.1414+19C>T Multiple submitters supravalvular aortic stenosis
c.1622-13C>T Multiple submitters supravalvular aortic stenosis
c.1747+82C>A Multiple submitters supravalvular aortic stenosis ⚠
c.1747+83C>T Multiple submitters supravalvular aortic stenosis
c.1858+20G>A Multiple submitters supravalvular aortic stenosis
c.2132-5T>A Multiple submitters supravalvular aortic stenosis
c.233-4G>A Multiple submitters supravalvular aortic stenosis
c.326-20C>T Multiple submitters supravalvular aortic stenosis
c.427+8C>T Multiple submitters supravalvular aortic stenosis
c.427+9G>A Multiple submitters supravalvular aortic stenosis
c.470-5G>A Multiple submitters cutis laxa, autosomal dominant 1
c.643+16G>A Multiple submitters supravalvular aortic stenosis
c.644-8C>T Multiple submitters supravalvular aortic stenosis
c.686-17G>A Multiple submitters supravalvular aortic stenosis
c.*172G>A Multiple submitters supravalvular aortic stenosis
p.Ala296Thr Multiple submitters supravalvular aortic stenosis
p.Ala307= Multiple submitters cutis laxa, autosomal dominant 1
p.Ala308= Multiple submitters supravalvular aortic stenosis
p.Ala71Val Multiple submitters supravalvular aortic stenosis ⚠
p.Gly122= Multiple submitters supravalvular aortic stenosis
p.Gly424Glu Multiple submitters supravalvular aortic stenosis ⚠
p.Gly522= Multiple submitters supravalvular aortic stenosis
p.Gly558= Multiple submitters supravalvular aortic stenosis
p.Gly581Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly607= Multiple submitters supravalvular aortic stenosis
p.Gly610Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Gly711Asp Multiple submitters supravalvular aortic stenosis
p.Leu497_Gly514del Multiple submitters supravalvular aortic stenosis
p.Lys463Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Phe703= Multiple submitters supravalvular aortic stenosis
p.Phe87Leu Multiple submitters cutis laxa, autosomal dominant 1 ⚠
p.Pro427Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Pro439= Multiple submitters supravalvular aortic stenosis
p.Val165Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Val298Ile Multiple submitters supravalvular aortic stenosis ⚠
p.Val423= Multiple submitters supravalvular aortic stenosis
p.Val489= Multiple submitters cutis laxa, autosomal dominant 1
p.Val503Met Multiple submitters cutis laxa, autosomal dominant 1 ⚠
c.134-10C>G Single submitter supravalvular aortic stenosis

Likely benign 377

Showing the top 300 by review status; the full set is in the sitemap.

c.1097-133T>C Multiple submitters
c.1316-12G>A Multiple submitters supravalvular aortic stenosis
c.133+16C>T Multiple submitters supravalvular aortic stenosis
c.134-14C>T Multiple submitters supravalvular aortic stenosis
c.134-6C>A Multiple submitters supravalvular aortic stenosis
c.1357+9C>A Multiple submitters supravalvular aortic stenosis
c.1358-185G>A Multiple submitters supravalvular aortic stenosis
c.1358-209C>T Multiple submitters supravalvular aortic stenosis
c.1358-253G>A Multiple submitters supravalvular aortic stenosis ⚠
c.1414+11dup Multiple submitters supravalvular aortic stenosis
c.1622-14C>T Multiple submitters supravalvular aortic stenosis
c.1747+109A>G Multiple submitters supravalvular aortic stenosis
c.1747+154C>T Multiple submitters
c.1747+26C>T Multiple submitters supravalvular aortic stenosis
c.1747+277G>A Multiple submitters
c.1747+92A>C Multiple submitters supravalvular aortic stenosis
c.1787-11T>A Multiple submitters supravalvular aortic stenosis
c.1787-4G>A Multiple submitters supravalvular aortic stenosis
c.196+18G>A Multiple submitters supravalvular aortic stenosis
c.1994-102C>T Multiple submitters
c.1994-12T>C Multiple submitters supravalvular aortic stenosis
c.1994-13C>T Multiple submitters supravalvular aortic stenosis
c.1994-6C>T Multiple submitters supravalvular aortic stenosis
c.376+17C>T Multiple submitters supravalvular aortic stenosis
c.377-14C>T Multiple submitters supravalvular aortic stenosis
c.427+203G>A Multiple submitters
c.949+14G>A Multiple submitters supravalvular aortic stenosis
p.646GLG[3] Multiple submitters supravalvular aortic stenosis
p.Ala127= Multiple submitters supravalvular aortic stenosis
p.Ala239= Multiple submitters supravalvular aortic stenosis
p.Ala258= Multiple submitters supravalvular aortic stenosis
p.Ala589= Multiple submitters supravalvular aortic stenosis
p.Ala621= Multiple submitters supravalvular aortic stenosis
p.Ala624= Multiple submitters supravalvular aortic stenosis
p.Ala625= Multiple submitters supravalvular aortic stenosis
p.Ala689= Multiple submitters supravalvular aortic stenosis
p.Ala71= Multiple submitters supravalvular aortic stenosis
p.Gly28= Multiple submitters supravalvular aortic stenosis
p.Gly422Ser Multiple submitters supravalvular aortic stenosis
p.Gly502= Multiple submitters supravalvular aortic stenosis
p.Gly702= Multiple submitters supravalvular aortic stenosis
p.Leu606= Multiple submitters supravalvular aortic stenosis
p.Lys176= Multiple submitters supravalvular aortic stenosis
p.Pro138= Multiple submitters supravalvular aortic stenosis
p.Pro161= Multiple submitters supravalvular aortic stenosis
p.Pro194= Multiple submitters supravalvular aortic stenosis
p.Pro578= Multiple submitters supravalvular aortic stenosis
p.Pro88= Multiple submitters supravalvular aortic stenosis
p.Ser530= Multiple submitters supravalvular aortic stenosis
p.Val411= Multiple submitters supravalvular aortic stenosis
p.Val429= Multiple submitters supravalvular aortic stenosis
p.Val557= Multiple submitters supravalvular aortic stenosis
c.1096+12TG[13] Single submitter supravalvular aortic stenosis
c.1096+12TG[14] Single submitter supravalvular aortic stenosis
c.1096+12TG[24] Single submitter supravalvular aortic stenosis
c.1096+12TG[8] Single submitter supravalvular aortic stenosis
c.1096+9G>C Single submitter supravalvular aortic stenosis
c.1150+17C>G Single submitter supravalvular aortic stenosis
c.1150+188C>T Single submitter
c.1150+20C>G Single submitter
c.1151-8C>T Single submitter
c.1316-13C>T Single submitter supravalvular aortic stenosis
c.1316-18T>C Single submitter supravalvular aortic stenosis
c.133+10A>G Single submitter supravalvular aortic stenosis
c.133+20C>T Single submitter supravalvular aortic stenosis
c.134-13T>C Single submitter supravalvular aortic stenosis
c.134-4dup Single submitter supravalvular aortic stenosis
c.134-5C>G Single submitter supravalvular aortic stenosis
c.134-5C>T Single submitter supravalvular aortic stenosis
c.134-6C>G Single submitter supravalvular aortic stenosis
c.134-7C>A Single submitter supravalvular aortic stenosis
c.134-7C>T Single submitter supravalvular aortic stenosis
c.1357+8C>A Single submitter supravalvular aortic stenosis
c.1358-152C>A Single submitter
c.1358-153C>T Single submitter supravalvular aortic stenosis
c.1358-161T>A Single submitter supravalvular aortic stenosis
c.1358-162G>C Single submitter supravalvular aortic stenosis
c.1358-18T>A Single submitter supravalvular aortic stenosis
c.1358-191G>A Single submitter supravalvular aortic stenosis
c.1358-218T>G Single submitter supravalvular aortic stenosis
c.1358-224G>A Single submitter supravalvular aortic stenosis
c.1358-227A>G Single submitter supravalvular aortic stenosis
c.1358-230G>A Single submitter supravalvular aortic stenosis
c.1358-238C>T Single submitter supravalvular aortic stenosis
c.1358-262C>T Single submitter supravalvular aortic stenosis
c.1358-276A>G Single submitter supravalvular aortic stenosis
c.1358-336C>T Single submitter
c.1414+11C>A Single submitter supravalvular aortic stenosis
c.1414+11C>T Single submitter supravalvular aortic stenosis
c.1414+16C>T Single submitter supravalvular aortic stenosis
c.1414+20G>T Single submitter supravalvular aortic stenosis
c.1414+7C>A Single submitter supravalvular aortic stenosis
c.1414+7C>G Single submitter supravalvular aortic stenosis
c.1414+7C>T Single submitter supravalvular aortic stenosis
c.1414+9C>T Single submitter supravalvular aortic stenosis
c.1415-10A>G Single submitter supravalvular aortic stenosis
c.1415-12T>C Single submitter supravalvular aortic stenosis
c.1415-16C>T Single submitter supravalvular aortic stenosis
c.1576+10A>G Single submitter supravalvular aortic stenosis
c.1576+10A>T Single submitter supravalvular aortic stenosis
c.1576+37G>A Single submitter
c.1576+8T>C Single submitter supravalvular aortic stenosis
c.1577-14T>C Single submitter supravalvular aortic stenosis
c.1577-15C>G Single submitter supravalvular aortic stenosis
c.1577-20C>A Single submitter supravalvular aortic stenosis
c.1577-4T>C Single submitter supravalvular aortic stenosis
c.1577-9C>G Single submitter supravalvular aortic stenosis
c.1621+11C>T Single submitter supravalvular aortic stenosis
c.1621+16A>G Single submitter supravalvular aortic stenosis
c.1621+9C>T Single submitter supravalvular aortic stenosis
c.164-14T>C Single submitter supravalvular aortic stenosis
c.1747+105T>G Single submitter supravalvular aortic stenosis
c.1747+107G>C Single submitter supravalvular aortic stenosis
c.1747+14A>G Single submitter supravalvular aortic stenosis
c.1747+23G>A Single submitter supravalvular aortic stenosis
c.1747+31C>A Single submitter ⚠
c.1747+32C>T Single submitter supravalvular aortic stenosis
c.1747+49G>C Single submitter supravalvular aortic stenosis
c.1747+56C>T Single submitter supravalvular aortic stenosis
c.1747+86C>T Single submitter supravalvular aortic stenosis
c.1747+89A>G Single submitter supravalvular aortic stenosis
c.1748-5C>T Single submitter supravalvular aortic stenosis
c.1786+18C>A Single submitter supravalvular aortic stenosis
c.1786+98C>T Single submitter
c.1787-6C>T Single submitter supravalvular aortic stenosis
c.1787-8C>G Single submitter supravalvular aortic stenosis
c.1858+11dup Single submitter supravalvular aortic stenosis
c.1858+16A>G Single submitter supravalvular aortic stenosis
c.1859-15G>A Single submitter supravalvular aortic stenosis
c.1859-19A>G Single submitter supravalvular aortic stenosis
c.1859-7T>C Single submitter supravalvular aortic stenosis
c.1918+31CCAGGCCC[3] Single submitter
c.1918+9T>C Single submitter supravalvular aortic stenosis
c.1919-18G>A Single submitter supravalvular aortic stenosis
c.196+10A>C Single submitter supravalvular aortic stenosis
c.196+13G>C Single submitter supravalvular aortic stenosis
c.196+17C>G Single submitter supravalvular aortic stenosis
c.196+17C>T Single submitter supravalvular aortic stenosis
c.197-9T>C Single submitter supravalvular aortic stenosis
c.1993+7G>C Single submitter supravalvular aortic stenosis
c.1994-18T>C Single submitter supravalvular aortic stenosis
c.2032+16A>T Single submitter supravalvular aortic stenosis
c.2032+19C>T Single submitter supravalvular aortic stenosis
c.2033-11C>T Single submitter supravalvular aortic stenosis
c.2033-9T>C Single submitter supravalvular aortic stenosis
c.2086+12C>A Single submitter supravalvular aortic stenosis
c.2086+13A>G Single submitter supravalvular aortic stenosis
c.2086+15C>T Single submitter supravalvular aortic stenosis
c.2086+7G>A Single submitter supravalvular aortic stenosis
c.2086+7G>T Single submitter supravalvular aortic stenosis
c.2086+8del Single submitter supravalvular aortic stenosis
c.2087-20A>G Single submitter supravalvular aortic stenosis
c.2087-4G>A Single submitter supravalvular aortic stenosis
c.2131+10G>A Single submitter supravalvular aortic stenosis
c.2131+21_2131+33del Single submitter supravalvular aortic stenosis
c.2132-15C>T Single submitter supravalvular aortic stenosis
c.2132-64C>T Single submitter
c.2132-6G>A Single submitter supravalvular aortic stenosis
c.232+14C>G Single submitter supravalvular aortic stenosis
c.232+15C>G Single submitter supravalvular aortic stenosis
c.232+16C>T Single submitter supravalvular aortic stenosis
c.232+18A>G Single submitter supravalvular aortic stenosis
c.233-296C>G Single submitter
c.233-4G>C Single submitter supravalvular aortic stenosis
c.233-5C>T Single submitter supravalvular aortic stenosis
c.233-9C>T Single submitter supravalvular aortic stenosis
c.326-16T>C Single submitter supravalvular aortic stenosis
c.326-17C>T Single submitter supravalvular aortic stenosis
c.326-18C>T Single submitter supravalvular aortic stenosis
c.376+18G>A Single submitter supravalvular aortic stenosis
c.377-14C>A Single submitter supravalvular aortic stenosis
c.377-16G>A Single submitter supravalvular aortic stenosis
c.377-5G>A Single submitter supravalvular aortic stenosis
c.427+11A>G Single submitter supravalvular aortic stenosis
c.427+7G>A Single submitter supravalvular aortic stenosis
c.427+8C>A Single submitter supravalvular aortic stenosis
c.428-10T>C Single submitter supravalvular aortic stenosis
c.428-18G>A Single submitter supravalvular aortic stenosis
c.428-291T>A Single submitter
c.469+18A>G Single submitter supravalvular aortic stenosis
c.469+20C>T Single submitter supravalvular aortic stenosis
c.470-10C>T Single submitter supravalvular aortic stenosis
c.470-16C>G Single submitter supravalvular aortic stenosis
c.470-295C>T Single submitter
c.470-6C>T Single submitter supravalvular aortic stenosis
c.470-8C>G Single submitter supravalvular aortic stenosis
c.541+14T>C Single submitter supravalvular aortic stenosis
c.541+18C>G Single submitter supravalvular aortic stenosis
c.542-10A>G Single submitter supravalvular aortic stenosis
c.571+8A>T Single submitter supravalvular aortic stenosis
c.572-14C>T Single submitter supravalvular aortic stenosis
c.572-17T>A Single submitter supravalvular aortic stenosis
c.572-19G>A Single submitter supravalvular aortic stenosis
c.643+10A>G Single submitter supravalvular aortic stenosis
c.643+15C>T Single submitter supravalvular aortic stenosis
c.643+19T>A Single submitter supravalvular aortic stenosis
c.644-13G>T Single submitter supravalvular aortic stenosis
c.644-17CT[4] Single submitter supravalvular aortic stenosis
c.644-6C>T Single submitter supravalvular aortic stenosis
c.685+11C>A Single submitter supravalvular aortic stenosis
c.685+18A>G Single submitter supravalvular aortic stenosis
c.686-13C>T Single submitter supravalvular aortic stenosis
c.686-18A>G Single submitter supravalvular aortic stenosis
c.686-19A>C Single submitter supravalvular aortic stenosis
c.745+16C>T Single submitter supravalvular aortic stenosis
c.745+17G>A Single submitter supravalvular aortic stenosis
c.745+17G>T Single submitter supravalvular aortic stenosis
c.746-19C>T Single submitter supravalvular aortic stenosis
c.746-20C>T Single submitter supravalvular aortic stenosis
c.746-3dup Single submitter
c.746-7C>T Single submitter supravalvular aortic stenosis
c.799+10C>T Single submitter supravalvular aortic stenosis
c.799+20C>T Single submitter supravalvular aortic stenosis
c.800-11C>T Single submitter supravalvular aortic stenosis
c.800-12C>G Single submitter supravalvular aortic stenosis
c.82+10_82+13dup Single submitter supravalvular aortic stenosis
c.82+13C>T Single submitter supravalvular aortic stenosis
c.82+14G>A Single submitter supravalvular aortic stenosis
c.82+169C>A Single submitter
c.82+20G>A Single submitter supravalvular aortic stenosis
c.83-15C>T Single submitter supravalvular aortic stenosis
c.83-18C>T Single submitter supravalvular aortic stenosis
c.83-20C>T Single submitter supravalvular aortic stenosis
c.83-6T>C Single submitter supravalvular aortic stenosis
c.889+16G>A Single submitter supravalvular aortic stenosis
c.889+20G>T Single submitter supravalvular aortic stenosis
c.890-8G>A Single submitter supravalvular aortic stenosis
c.949+11C>T Single submitter supravalvular aortic stenosis
c.949+13C>G Single submitter supravalvular aortic stenosis
c.949+8C>T Single submitter supravalvular aortic stenosis
c.949+9C>T Single submitter supravalvular aortic stenosis
c.950-275AGAA[5] Single submitter
c.950-291AG[8] Single submitter
c.-37G>C Single submitter
p.Ala134= Single submitter supravalvular aortic stenosis
p.Ala2= Single submitter supravalvular aortic stenosis
p.Ala210= Single submitter supravalvular aortic stenosis
p.Ala242= Single submitter supravalvular aortic stenosis
p.Ala262= Single submitter supravalvular aortic stenosis
p.Ala271= Single submitter supravalvular aortic stenosis
p.Ala288Gly Single submitter supravalvular aortic stenosis
p.Ala309= Single submitter supravalvular aortic stenosis
p.Ala310= Single submitter supravalvular aortic stenosis
p.Ala314= Single submitter supravalvular aortic stenosis
p.Ala362= Single submitter supravalvular aortic stenosis
p.Ala363= Single submitter supravalvular aortic stenosis
p.Ala381= Single submitter supravalvular aortic stenosis
p.Ala447= Single submitter supravalvular aortic stenosis
p.Ala46= Single submitter supravalvular aortic stenosis
p.Ala460= Single submitter supravalvular aortic stenosis
p.Ala465= Single submitter supravalvular aortic stenosis
p.Ala469= Single submitter supravalvular aortic stenosis
p.Ala50= Single submitter
p.Ala535= Single submitter supravalvular aortic stenosis
p.Ala55= Single submitter supravalvular aortic stenosis
p.Ala586= Single submitter supravalvular aortic stenosis
p.Ala6= Single submitter supravalvular aortic stenosis
p.Ala626= Single submitter supravalvular aortic stenosis
p.Ala627= Single submitter supravalvular aortic stenosis
p.Ala636= Single submitter supravalvular aortic stenosis
p.Ala644= Single submitter supravalvular aortic stenosis
p.Ala7= Single submitter supravalvular aortic stenosis
p.Ala718= Single submitter supravalvular aortic stenosis
p.Ala84= Single submitter supravalvular aortic stenosis
p.Arg25= Single submitter supravalvular aortic stenosis
p.Arg721= Single submitter supravalvular aortic stenosis
p.Asp98= Single submitter supravalvular aortic stenosis
p.Gln638= Single submitter
p.Gly109= Single submitter supravalvular aortic stenosis
p.Gly114= Single submitter supravalvular aortic stenosis
p.Gly143= Single submitter supravalvular aortic stenosis
p.Gly145= Single submitter supravalvular aortic stenosis
p.Gly183= Single submitter supravalvular aortic stenosis
p.Gly251= Single submitter supravalvular aortic stenosis
p.Gly297= Single submitter supravalvular aortic stenosis
p.Gly325= Single submitter supravalvular aortic stenosis
p.Gly340= Single submitter supravalvular aortic stenosis
p.Gly350= Single submitter supravalvular aortic stenosis
p.Gly36= Single submitter supravalvular aortic stenosis
p.Gly39= Single submitter supravalvular aortic stenosis
p.Gly390= Single submitter supravalvular aortic stenosis
p.Gly398= Single submitter supravalvular aortic stenosis
p.Gly402= Single submitter supravalvular aortic stenosis
p.Gly412= Single submitter supravalvular aortic stenosis
p.Gly453= Single submitter supravalvular aortic stenosis
p.Gly478= Single submitter supravalvular aortic stenosis
p.Gly494= Single submitter supravalvular aortic stenosis
p.Gly508= Single submitter supravalvular aortic stenosis
p.Gly512= Single submitter
p.Gly512= Single submitter supravalvular aortic stenosis
p.Gly514= Single submitter supravalvular aortic stenosis
p.Gly556= Single submitter supravalvular aortic stenosis
p.Gly59= Single submitter
p.Gly601= Single submitter supravalvular aortic stenosis
p.Gly613= Single submitter
p.Gly616= Single submitter supravalvular aortic stenosis
p.Gly646= Single submitter supravalvular aortic stenosis
p.Gly69= Single submitter supravalvular aortic stenosis
p.Gly690= Single submitter supravalvular aortic stenosis
p.Gly696= Single submitter supravalvular aortic stenosis

Uncertain significance 515

Showing the top 300 by review status; the full set is in the sitemap.

c.1315+1G>A Multiple submitters supravalvular aortic stenosis
c.133+6G>A Multiple submitters cutis laxa, autosomal dominant 1
c.1358-199G>A Multiple submitters Williams syndrome ⚠
c.1358-232G>C Multiple submitters supravalvular aortic stenosis ⚠
c.1747+105T>C Multiple submitters supravalvular aortic stenosis
c.1747+36G>A Multiple submitters supravalvular aortic stenosis ⚠
c.1747+81A>G Multiple submitters supravalvular aortic stenosis ⚠
c.2131+1G>A Multiple submitters supravalvular aortic stenosis
c.376+2T>C Multiple submitters cutis laxa, autosomal dominant 1
c.469+5G>C Multiple submitters supravalvular aortic stenosis
c.571+7C>T Multiple submitters supravalvular aortic stenosis
p.562LGVGAGVPG[3] Multiple submitters supravalvular aortic stenosis
p.648GGLGV[1] Multiple submitters ELN-related disorder
p.Ala110Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala260dup Multiple submitters supravalvular aortic stenosis
p.Ala305Val Multiple submitters supravalvular aortic stenosis ⚠
p.Ala306Val Multiple submitters supravalvular aortic stenosis ⚠
p.Ala308_Ala311del Multiple submitters supravalvular aortic stenosis
p.Ala311_Lys312insAlaAla Multiple submitters supravalvular aortic stenosis
p.Ala362Pro Multiple submitters supravalvular aortic stenosis ⚠
p.Ala363Val Multiple submitters Inborn genetic diseases ⚠
p.Ala380Thr Multiple submitters cutis laxa, autosomal dominant 1 ⚠
p.Ala418Pro Multiple submitters supravalvular aortic stenosis ⚠
p.Ala441Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala447Thr Multiple submitters ELN-related disorder ⚠
p.Ala450Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala458Glu Multiple submitters cutis laxa, autosomal dominant 1 ⚠
p.Ala466Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala468Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala469Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala510Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala525Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala531Phe Multiple submitters Williams syndrome
p.Ala536Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Ala582Val Multiple submitters ELN-related disorder ⚠
p.Ala590Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala624Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala625Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala626Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala629Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala630del Multiple submitters supravalvular aortic stenosis
p.Ala632Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Ala637Ser Multiple submitters ELN-related disorder ⚠
p.Ala674Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala6Val Multiple submitters Inborn genetic diseases ⚠
p.Ala7Val Multiple submitters Inborn genetic diseases ⚠
p.Ala84Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Ala84Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Ala99Thr Multiple submitters supravalvular aortic stenosis ⚠
p.Arg10Trp Multiple submitters supravalvular aortic stenosis ⚠
p.Arg159Gln Multiple submitters supravalvular aortic stenosis ⚠
p.Arg721Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly12Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly135Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly148Asp Multiple submitters supravalvular aortic stenosis ⚠
p.Gly162Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Gly197Glu Multiple submitters supravalvular aortic stenosis ⚠
p.Gly233Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly267Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Gly269Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly284Asp Multiple submitters supravalvular aortic stenosis ⚠
p.Gly31Glu Multiple submitters supravalvular aortic stenosis ⚠
p.Gly343Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly345_Pro352dup Multiple submitters supravalvular aortic stenosis
p.Gly348Glu Multiple submitters supravalvular aortic stenosis ⚠
p.Gly358_Ala362del Multiple submitters supravalvular aortic stenosis
p.Gly384Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly390Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly398Arg Multiple submitters ELN-related disorder ⚠
p.Gly398Trp Multiple submitters supravalvular aortic stenosis ⚠
p.Gly3Asp Multiple submitters supravalvular aortic stenosis ⚠
p.Gly406Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly422Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly424Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly428Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly430Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly434Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly455Arg Multiple submitters Williams syndrome ⚠
p.Gly47Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Gly49Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly506Val Multiple submitters Inborn genetic diseases ⚠
p.Gly508Asp Multiple submitters ⚠
p.Gly52Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly607Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly648Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly648Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly649Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Gly649Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly651Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly653Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly654Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly662Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Gly678Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Gly684Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly68Arg Multiple submitters supravalvular aortic stenosis ⚠
p.Gly702Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly94Arg Multiple submitters ⚠
p.Leu497_Gly508del Multiple submitters supravalvular aortic stenosis
p.Leu51Pro Multiple submitters supravalvular aortic stenosis ⚠
p.Lys467Glu Multiple submitters supravalvular aortic stenosis ⚠
p.Lys724Ile Multiple submitters supravalvular aortic stenosis ⚠
p.Phe195Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Phe639Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe703Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Pro132Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Pro142Gln Multiple submitters supravalvular aortic stenosis ⚠
p.Pro180= Multiple submitters supravalvular aortic stenosis
p.Pro198Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Pro198Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro301Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro337Ser Multiple submitters supravalvular aortic stenosis ⚠
p.Pro433Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Pro487Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro710Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro88Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro9Leu Multiple submitters supravalvular aortic stenosis ⚠
p.Thr300Ser Multiple submitters Inguinal hernia ⚠
p.Thr456Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Thr456Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr230Phe Multiple submitters supravalvular aortic stenosis ⚠
p.Tyr595= Multiple submitters supravalvular aortic stenosis
p.Val411Ala Multiple submitters supravalvular aortic stenosis ⚠
p.Val435Ile Multiple submitters Inborn genetic diseases ⚠
p.Val491Met Multiple submitters Inborn genetic diseases ⚠
p.Val515Met Multiple submitters Inborn genetic diseases ⚠
p.Val568Ile Multiple submitters supravalvular aortic stenosis ⚠
p.Val697Met Multiple submitters Inborn genetic diseases ⚠
c.1096+12TG[15] Single submitter supravalvular aortic stenosis
c.1096+12TG[23] Single submitter supravalvular aortic stenosis
c.1096+12TG[25] Single submitter supravalvular aortic stenosis
c.1096+4A>G Single submitter
c.1097-3C>T Single submitter supravalvular aortic stenosis
c.1097-8C>G Single submitter cutis laxa, autosomal dominant 1
c.1150+2T>C Single submitter
c.1151-3C>A Single submitter supravalvular aortic stenosis
c.1315+17_1315+18delinsTT Single submitter supravalvular aortic stenosis
c.1315+3G>A Single submitter supravalvular aortic stenosis
c.133+5C>A Single submitter supravalvular aortic stenosis
c.134-3C>T Single submitter supravalvular aortic stenosis
c.1358-174C>T Single submitter ⚠
c.1358-183G>A Single submitter ⚠
c.1358-183G>C Single submitter supravalvular aortic stenosis ⚠
c.1358-186C>T Single submitter supravalvular aortic stenosis ⚠
c.1358-191_1358-174dup Single submitter supravalvular aortic stenosis
c.1358-196G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-208G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-216C>A Single submitter supravalvular aortic stenosis ⚠
c.1358-219del Single submitter
c.1358-226G>C Single submitter ⚠
c.1358-234G>C Single submitter supravalvular aortic stenosis ⚠
c.1358-235G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-241G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-243G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-244G>A Single submitter supravalvular aortic stenosis ⚠
c.1358-247G>C Single submitter supravalvular aortic stenosis ⚠
c.1358-261G>A Single submitter supravalvular aortic stenosis
c.1358-30_1358-19del Single submitter supravalvular aortic stenosis
c.1414+1G>A Single submitter Thoracic aortic aneurysm or dissection
c.1576+6T>G Single submitter supravalvular aortic stenosis
c.163+3G>A Single submitter supravalvular aortic stenosis
c.163+5G>A Single submitter
c.1747+104A>G Single submitter supravalvular aortic stenosis
c.1747+15G>C Single submitter supravalvular aortic stenosis ⚠
c.1747+21C>T Single submitter supravalvular aortic stenosis ⚠
c.1747+22G>A Single submitter supravalvular aortic stenosis ⚠
c.1747+27C>A Single submitter supravalvular aortic stenosis ⚠
c.1747+39C>T Single submitter ⚠
c.1747+64C>T Single submitter supravalvular aortic stenosis ⚠
c.1747+69C>T Single submitter ⚠
c.1747+71C>A Single submitter supravalvular aortic stenosis ⚠
c.1747+85C>T Single submitter supravalvular aortic stenosis ⚠
c.1747+93C>A Single submitter ⚠
c.1747+93C>T Single submitter supravalvular aortic stenosis ⚠
c.1747+98G>A Single submitter supravalvular aortic stenosis
c.1748-18A>G Single submitter supravalvular aortic stenosis
c.1748-1G>A Single submitter
c.1748-3C>T Single submitter supravalvular aortic stenosis
c.1858+4A>G Single submitter supravalvular aortic stenosis
c.1859-9T>C Single submitter
c.1918+3G>A Single submitter
c.1918+5G>A Single submitter supravalvular aortic stenosis
c.1919-3C>G Single submitter
c.196+5G>A Single submitter supravalvular aortic stenosis
c.1993+4A>G Single submitter supravalvular aortic stenosis
c.2086+4G>A Single submitter supravalvular aortic stenosis
c.2092_2131+762delinsC Single submitter supravalvular aortic stenosis
c.2132-13_2132-11delinsAAA Single submitter
c.2132-2A>G Single submitter supravalvular aortic stenosis
c.232+4A>T Single submitter supravalvular aortic stenosis
c.232+6T>C Single submitter supravalvular aortic stenosis
c.233-1G>A Single submitter
c.325+3G>C Single submitter supravalvular aortic stenosis
c.325+5G>A Single submitter supravalvular aortic stenosis
c.326-7T>A Single submitter supravalvular aortic stenosis
c.376+4C>T Single submitter supravalvular aortic stenosis
c.427+1G>T Single submitter
c.427+4A>G Single submitter supravalvular aortic stenosis
c.428-1G>C Single submitter
c.469+3G>A Single submitter supravalvular aortic stenosis
c.542-1G>T Single submitter
c.571+6G>A Single submitter supravalvular aortic stenosis
c.685+1_685+5dup Single submitter
c.685+5G>A Single submitter
c.744_745+12del Single submitter
c.745+1G>A Single submitter Cardiovascular phenotype
c.799+6T>A Single submitter supravalvular aortic stenosis
c.800-3C>T Single submitter
c.82+6G>C Single submitter supravalvular aortic stenosis
c.889+6A>G Single submitter supravalvular aortic stenosis
c.890-14G>A Single submitter supravalvular aortic stenosis
c.890-1G>T Single submitter supravalvular aortic stenosis
c.890-34G>A Single submitter
c.949+5G>A Single submitter supravalvular aortic stenosis
c.949+6T>C Single submitter supravalvular aortic stenosis
c.-3G>A Single submitter
c.-70G>C Single submitter supravalvular aortic stenosis
c.*102C>T Single submitter cutis laxa, autosomal dominant 1
c.*171C>T Single submitter cutis laxa, autosomal dominant 1
c.*238C>T Single submitter supravalvular aortic stenosis
c.*251C>T Single submitter supravalvular aortic stenosis
c.*264C>A Single submitter cutis laxa, autosomal dominant 1
c.*358C>T Single submitter cutis laxa, autosomal dominant 1
c.*458C>T Single submitter cutis laxa, autosomal dominant 1
c.*489G>T Single submitter cutis laxa, autosomal dominant 1
c.*532C>T Single submitter supravalvular aortic stenosis
c.*570G>A Single submitter supravalvular aortic stenosis
c.*578T>C Single submitter cutis laxa, autosomal dominant 1
c.*591C>T Single submitter cutis laxa, autosomal dominant 1
c.*629T>C Single submitter supravalvular aortic stenosis
c.*631C>T Single submitter cutis laxa, autosomal dominant 1
c.*644G>A Single submitter cutis laxa, autosomal dominant 1
c.*663C>T Single submitter cutis laxa, autosomal dominant 1
c.*664G>A Single submitter supravalvular aortic stenosis
c.*794C>T Single submitter cutis laxa, autosomal dominant 1
c.*95C>T Single submitter supravalvular aortic stenosis
c.*997G>T Single submitter cutis laxa, autosomal dominant 1
p.462AKAA[1] Single submitter supravalvular aortic stenosis
p.479VAPGVG[1] Single submitter supravalvular aortic stenosis
p.479VAPGVG[2] Single submitter supravalvular aortic stenosis
p.Ala102Gly Single submitter supravalvular aortic stenosis ⚠
p.Ala106Pro Single submitter supravalvular aortic stenosis ⚠
p.Ala106Val Single submitter supravalvular aortic stenosis ⚠
p.Ala127Val Single submitter supravalvular aortic stenosis ⚠
p.Ala173Val Single submitter Inborn genetic diseases ⚠
p.Ala185Gly Single submitter supravalvular aortic stenosis ⚠
p.Ala187Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala254Val Single submitter ⚠
p.Ala255Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala258Val Single submitter supravalvular aortic stenosis ⚠
p.Ala260del Single submitter supravalvular aortic stenosis
p.Ala262Gly Single submitter ⚠
p.Ala262Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala270_Gly272del Single submitter supravalvular aortic stenosis
p.Ala288Val Single submitter supravalvular aortic stenosis ⚠
p.Ala2Val Single submitter supravalvular aortic stenosis ⚠
p.Ala304Gly Single submitter supravalvular aortic stenosis ⚠
p.Ala305Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala306Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala32Ser Single submitter supravalvular aortic stenosis ⚠
p.Ala349Pro Single submitter supravalvular aortic stenosis ⚠
p.Ala349Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla Single submitter supravalvular aortic stenosis
p.Ala378Ser Single submitter Inborn genetic diseases ⚠
p.Ala378Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala401Gly Single submitter Inborn genetic diseases ⚠
p.Ala401Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala418Val Single submitter supravalvular aortic stenosis ⚠
p.Ala445Asp Single submitter ⚠
p.Ala450Asp Single submitter supravalvular aortic stenosis ⚠
p.Ala458Gly Single submitter supravalvular aortic stenosis ⚠
p.Ala458Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala458Val Single submitter supravalvular aortic stenosis ⚠
p.Ala460Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala462Asp Single submitter supravalvular aortic stenosis ⚠
p.Ala466Val Single submitter supravalvular aortic stenosis ⚠
p.Ala469_Gln470insAlaLysAlaAla Single submitter supravalvular aortic stenosis
p.Ala469Ser Single submitter supravalvular aortic stenosis ⚠
p.Ala469Val Single submitter supravalvular aortic stenosis ⚠
p.Ala531Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala532del Single submitter supravalvular aortic stenosis
p.Ala532Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala535Val Single submitter supravalvular aortic stenosis ⚠
p.Ala55Val Single submitter supravalvular aortic stenosis ⚠
p.Ala575Cys Single submitter supravalvular aortic stenosis
p.Ala588Val Single submitter supravalvular aortic stenosis ⚠
p.Ala597Val Single submitter Inborn genetic diseases ⚠
p.Ala598Pro Single submitter Inborn genetic diseases ⚠
p.Ala598Val Single submitter ⚠
p.Ala608Val Single submitter ⚠
p.Ala621Gly Single submitter ⚠
p.Ala625Asp Single submitter supravalvular aortic stenosis ⚠
p.Ala626_Ala627insLysAlaLeu Single submitter supravalvular aortic stenosis
p.Ala626Val Single submitter supravalvular aortic stenosis ⚠
p.Ala627Ser Single submitter supravalvular aortic stenosis ⚠
p.Ala628Thr Single submitter supravalvular aortic stenosis ⚠
p.Ala629_Ala630del Single submitter supravalvular aortic stenosis
p.Ala629_Ala634dup Single submitter supravalvular aortic stenosis
p.Ala630_Lys631insAla Single submitter supravalvular aortic stenosis
p.Ala630dup Single submitter
p.Ala636Thr Single submitter Inborn genetic diseases ⚠