Sugi Variant

Sugi Variant/IFIH1

IFIH1 — 1739 ClinVar variants

All ClinVar germline IFIH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 843 flagged for review →

24 Pathogenic · 3 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 102 Conflicting · 50 Benign · 40 Benign/Likely benign · 538 Likely benign · 968 Uncertain significance

Full IFIH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 843

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 22

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

Predictors agree, ClinVar conflicts 53

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

Predictors lean, ClinVar uncertain 621

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 621

Predictors split 147

The independent predictors disagree with each other — read with care.

All IFIH1 variants

Pathogenic 24

Pathogenic/Likely pathogenic 3

Likely pathogenic 14

Conflicting classifications of pathogenicity 102

Benign 50

Benign/Likely benign 40

  • c.1095+98_1095+102del Multiple submitters
  • c.1524+19T>C Multiple submitters Singleton-Merten syndrome 1
  • c.1524+90G>A Multiple submitters
  • c.1642-19G>A Multiple submitters Aicardi-Goutieres syndrome 7
  • c.1642-20A>C Multiple submitters Singleton-Merten syndrome 1
  • c.2454+9A>G Multiple submitters Aicardi-Goutieres syndrome 7
  • c.2616+11T>C Multiple submitters Aicardi-Goutieres syndrome 7
  • c.2808-75G>T Multiple submitters
  • c.2898+17G>A Multiple submitters Singleton-Merten syndrome 1
  • c.2899-4C>T Multiple submitters Aicardi-Goutieres syndrome 7
  • c.453+17A>G Multiple submitters Aicardi-Goutieres syndrome 7
  • c.453+5G>C Multiple submitters Singleton-Merten syndrome 1
  • c.623-19C>G Multiple submitters Aicardi-Goutieres syndrome 7
  • c.875-11A>C Multiple submitters Singleton-Merten syndrome 1
  • p.Ala622= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Ala946Thr Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Arg674fs Multiple submitters Singleton-Merten syndrome 1
  • p.Asn683= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Gln312= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Glu140= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Glu633Asp Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Gly494Val Multiple submitters Aicardi-Goutieres syndrome 7
  • p.His460Arg Multiple submitters Aicardi-Goutieres syndrome 7
  • p.His843Arg Multiple submitters Aicardi-Goutieres syndrome 7
  • p.His928= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Ile541= Multiple submitters Singleton-Merten syndrome 1
  • p.Ile923Val Multiple submitters Singleton-Merten syndrome 1
  • p.Leu143= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Leu35= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Leu604= Multiple submitters Singleton-Merten syndrome 1
  • p.Leu982= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Lys349Arg Multiple submitters immunodeficiency 95
  • p.Lys365Glu Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Lys894= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Pro218Leu Multiple submitters Singleton-Merten syndrome 1
  • p.Thr497= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Thr575Ala Multiple submitters Inborn genetic diseases
  • p.Thr702Ile Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Val747Ile Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Val929Ile Multiple submitters Aicardi-Goutieres syndrome 7

Likely benign 538

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

  • c.1096-13A>G Multiple submitters Singleton-Merten syndrome 1
  • c.1096-3A>G Multiple submitters Singleton-Merten syndrome 1
  • c.1306+18T>C Multiple submitters Singleton-Merten syndrome 1
  • c.1307-17_1307-16del Multiple submitters Singleton-Merten syndrome 1
  • c.1524+9T>C Multiple submitters Singleton-Merten syndrome 1
  • c.1525-11C>A Multiple submitters Singleton-Merten syndrome 1
  • c.1525-4C>T Multiple submitters Singleton-Merten syndrome 1
  • c.1642-8A>G Multiple submitters Aicardi-Goutieres syndrome 7
  • c.1766-11dup Multiple submitters Aicardi-Goutieres syndrome 7
  • c.1766-15T>C Multiple submitters Aicardi-Goutieres syndrome 7
  • c.1766-3C>T Multiple submitters Aicardi-Goutieres syndrome 7
  • c.2044+10A>T Multiple submitters Aicardi-Goutieres syndrome 7
  • c.2305-135G>A Multiple submitters
  • c.2616+14C>T Multiple submitters Singleton-Merten syndrome 1
  • c.2807+20T>C Multiple submitters Singleton-Merten syndrome 1
  • c.2898+15G>A Multiple submitters Singleton-Merten syndrome 1
  • c.453+8T>A Multiple submitters Singleton-Merten syndrome 1
  • c.622+121A>G Multiple submitters
  • c.622+18G>C Multiple submitters Aicardi-Goutieres syndrome 7
  • c.623-251A>G Multiple submitters
  • c.770-101T>G Multiple submitters
  • c.770-104A>C Multiple submitters
  • c.874+11A>T Multiple submitters Singleton-Merten syndrome 1
  • c.875-20T>C Multiple submitters Singleton-Merten syndrome 1
  • c.875-34C>T Multiple submitters
  • p.Ala733= Multiple submitters Singleton-Merten syndrome 1
  • p.Ala733Val Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Ala815Pro Multiple submitters Singleton-Merten syndrome 1
  • p.Ala952= Multiple submitters Singleton-Merten syndrome 1
  • p.Arg374His Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Arg806Cys Multiple submitters Aicardi-Goutieres syndrome 7 ⚠
  • p.Asn1012Lys Multiple submitters Inborn genetic diseases
  • p.Asn243Lys Multiple submitters Inborn genetic diseases
  • p.Asn469= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Asn812Ser Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Asn96= Multiple submitters Singleton-Merten syndrome 1
  • p.Asp655Glu Multiple submitters Singleton-Merten syndrome 1
  • p.Cys910Ter Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Gln711= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Glu534= Multiple submitters Singleton-Merten syndrome 1
  • p.Glu773fs Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Glu937= Multiple submitters Singleton-Merten syndrome 1
  • p.Gly87= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.His752= Multiple submitters Singleton-Merten syndrome 1
  • p.His921= Multiple submitters Singleton-Merten syndrome 1
  • p.Ile146Val Multiple submitters Inborn genetic diseases
  • p.Ile620Met Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Ile787= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Leu347Phe Multiple submitters Singleton-Merten syndrome 1
  • p.Leu424= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Leu434= Multiple submitters Singleton-Merten syndrome 1
  • p.Leu509= Multiple submitters Singleton-Merten syndrome 1
  • p.Leu809= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Leu979= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Lys344= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Lys772Asn Multiple submitters Singleton-Merten syndrome 1
  • p.Lys884= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Phe681= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Pro231Thr Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Pro302= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Pro577= Multiple submitters Singleton-Merten syndrome 1
  • p.Pro666Ser Multiple submitters Singleton-Merten syndrome 1
  • p.Pro765= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Pro765Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro866Leu Multiple submitters Inborn genetic diseases
  • p.Ser248= Multiple submitters Singleton-Merten syndrome 1
  • p.Ser391= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Thr100= Multiple submitters Singleton-Merten syndrome 1
  • p.Thr286= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Tyr564= Multiple submitters Singleton-Merten syndrome 1
  • p.Tyr732= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Tyr807= Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Tyr830= Multiple submitters Singleton-Merten syndrome 1
  • p.Val215= Multiple submitters Singleton-Merten syndrome 1
  • p.Val31= Multiple submitters Singleton-Merten syndrome 1
  • p.Val366Glu Multiple submitters Aicardi-Goutieres syndrome 7
  • p.Val599= Multiple submitters Singleton-Merten syndrome 1
  • p.Val831= Multiple submitters Singleton-Merten syndrome 1
  • p.Val990Phe Multiple submitters Inborn genetic diseases
  • c.1095+13C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.1095+15C>T Single submitter Singleton-Merten syndrome 1
  • c.1095+16A>C Single submitter Singleton-Merten syndrome 1
  • c.1095+8A>G Single submitter Singleton-Merten syndrome 1
  • c.1096-10T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1096-13A>C Single submitter Singleton-Merten syndrome 1
  • c.1096-14C>A Single submitter Singleton-Merten syndrome 1
  • c.1096-17C>G Single submitter Singleton-Merten syndrome 1
  • c.1096-18T>A Single submitter Aicardi-Goutieres syndrome 7
  • c.1096-19A>G Single submitter Singleton-Merten syndrome 1
  • c.1096-19A>T Single submitter Singleton-Merten syndrome 1
  • c.1096-20A>C Single submitter Singleton-Merten syndrome 1
  • c.1096-20A>G Single submitter Singleton-Merten syndrome 1
  • c.1096-8T>G Single submitter Singleton-Merten syndrome 1
  • c.1306+11G>A Single submitter Aicardi-Goutieres syndrome 7
  • c.1306+16T>C Single submitter Singleton-Merten syndrome 1
  • c.1306+17del Single submitter Aicardi-Goutieres syndrome 7
  • c.1306+189A>G Single submitter
  • c.1307-12T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1307-16del Single submitter Singleton-Merten syndrome 1
  • c.1307-17T>A Single submitter Aicardi-Goutieres syndrome 7
  • c.1307-19C>A Single submitter Singleton-Merten syndrome 1
  • c.1524+10A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1524+185A>G Single submitter
  • c.1524+20A>G Single submitter Singleton-Merten syndrome 1
  • c.1525-10T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1525-11C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.1525-9C>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1641+10T>A Single submitter Singleton-Merten syndrome 1
  • c.1641+13T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1641+19A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1641+19A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.1641+6G>A Single submitter Singleton-Merten syndrome 1
  • c.1641+7G>A Single submitter Singleton-Merten syndrome 1
  • c.1641+7G>T Single submitter Singleton-Merten syndrome 1
  • c.1641+8C>T Single submitter
  • c.1642-12C>A Single submitter Singleton-Merten syndrome 1
  • c.1642-14T>C Single submitter Singleton-Merten syndrome 1
  • c.1642-16T>C Single submitter Singleton-Merten syndrome 1
  • c.1642-24_1642-19del Single submitter Singleton-Merten syndrome 1
  • c.1765+12T>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1765+14G>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1765+17C>T Single submitter Singleton-Merten syndrome 1
  • c.1765+20A>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1765+7T>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1765+9G>A Single submitter Singleton-Merten syndrome 1
  • c.1765+9G>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1765+9G>T Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-119C>T Single submitter
  • c.1766-13T>C Single submitter Singleton-Merten syndrome 1
  • c.1766-16A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-18T>A Single submitter Singleton-Merten syndrome 1
  • c.1766-20C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-4_1766-3insATAAT Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-6T>A Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-7T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-9_1766-8insCAC Single submitter Aicardi-Goutieres syndrome 7
  • c.1766-9T>C Single submitter Singleton-Merten syndrome 1
  • c.2044+15A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2044+18A>G Single submitter Singleton-Merten syndrome 1
  • c.2044+20A>C Single submitter Aicardi-Goutieres syndrome 7
  • c.2044+20A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2044+2T>C Single submitter Singleton-Merten syndrome 1
  • c.2044+7T>G Single submitter Singleton-Merten syndrome 1
  • c.2045-15A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2045-7C>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2304+11C>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2304+12C>A Single submitter Singleton-Merten syndrome 1
  • c.2304+20C>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2304+7A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2305-10G>A Single submitter Singleton-Merten syndrome 1
  • c.2305-14A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2305-18A>T Single submitter Singleton-Merten syndrome 1
  • c.2305-4A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2305-5T>C Single submitter Singleton-Merten syndrome 1
  • c.2305-6C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2454+14C>T Single submitter Singleton-Merten syndrome 1
  • c.2454+17C>G Single submitter Singleton-Merten syndrome 1
  • c.2454+18T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.2454+20C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2454+275C>A Single submitter
  • c.2454+7T>A Single submitter Singleton-Merten syndrome 1
  • c.2455-12T>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2455-19G>A Single submitter Singleton-Merten syndrome 1
  • c.2455-6T>C Single submitter Singleton-Merten syndrome 1
  • c.2455-8G>A Single submitter Singleton-Merten syndrome 1
  • c.2616+11T>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2616+7T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.2617-16T>G Single submitter Singleton-Merten syndrome 1
  • c.2617-18A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2617-4C>T Single submitter Singleton-Merten syndrome 1
  • c.2807+10G>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2807+12A>C Single submitter Singleton-Merten syndrome 1
  • c.2807+14G>A Single submitter Singleton-Merten syndrome 1
  • c.2807+9A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2808-12T>C Single submitter Singleton-Merten syndrome 1
  • c.2808-14T>G Single submitter Singleton-Merten syndrome 1
  • c.2808-15C>T Single submitter Singleton-Merten syndrome 1
  • c.2808-16C>T Single submitter Singleton-Merten syndrome 1
  • c.2808-18T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.2808-20T>C Single submitter Singleton-Merten syndrome 1
  • c.2808-231A>G Single submitter
  • c.2808-4A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.2898+14T>C Single submitter Singleton-Merten syndrome 1
  • c.2898+19G>C Single submitter Aicardi-Goutieres syndrome 7
  • c.2898+20C>G Single submitter Singleton-Merten syndrome 1
  • c.2898+3G>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2899-16C>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2899-18C>G Single submitter Aicardi-Goutieres syndrome 7
  • c.2899-20C>A Single submitter Aicardi-Goutieres syndrome 7
  • c.2899-5T>C Single submitter Singleton-Merten syndrome 1
  • c.2899-8T>C Single submitter Singleton-Merten syndrome 1
  • c.453+11G>T Single submitter Singleton-Merten syndrome 1
  • c.453+12T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.453+19G>C Single submitter Singleton-Merten syndrome 1
  • c.453+7G>A Single submitter Aicardi-Goutieres syndrome 7
  • c.454-11T>C Single submitter Singleton-Merten syndrome 1
  • c.454-12_454-10del Single submitter Singleton-Merten syndrome 1
  • c.454-16T>C Single submitter Singleton-Merten syndrome 1
  • c.454-17A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.454-19T>C Single submitter
  • c.454-20C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.622+8T>C Single submitter Aicardi-Goutieres syndrome 7
  • c.623-11G>A Single submitter Aicardi-Goutieres syndrome 7
  • c.623-14A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.623-17A>G Single submitter Aicardi-Goutieres syndrome 7
  • c.623-19C>T Single submitter Aicardi-Goutieres syndrome 7
  • c.623-9T>C Single submitter Singleton-Merten syndrome 1
  • c.769+12A>T Single submitter Aicardi-Goutieres syndrome 7
  • c.769+16A>G Single submitter Singleton-Merten syndrome 1
  • c.769+18G>A Single submitter Singleton-Merten syndrome 1
  • c.769+8A>C Single submitter Aicardi-Goutieres syndrome 7
  • c.770-14G>A Single submitter Singleton-Merten syndrome 1
  • c.770-18A>C Single submitter Aicardi-Goutieres syndrome 7
  • c.770-37ATATTTTAAAA[3] Single submitter Singleton-Merten syndrome 1
  • c.874+10_874+13del Single submitter Singleton-Merten syndrome 1
  • c.874+14G>A Single submitter Singleton-Merten syndrome 1
  • c.874+14G>C Single submitter Singleton-Merten syndrome 1
  • c.874+15_874+22del Single submitter Singleton-Merten syndrome 1
  • c.874+15T>A Single submitter Aicardi-Goutieres syndrome 7
  • c.874+19G>A Single submitter Singleton-Merten syndrome 1
  • c.875-13C>T Single submitter
  • c.875-4T>C Single submitter Singleton-Merten syndrome 1
  • c.875-6C>T Single submitter Singleton-Merten syndrome 1
  • c.875-9C>T Single submitter Singleton-Merten syndrome 1
  • c.*9T>G Single submitter
  • p.Ala154= Single submitter Singleton-Merten syndrome 1
  • p.Ala155= Single submitter
  • p.Ala155fs Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala180= Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala297= Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala300Val Single submitter Singleton-Merten syndrome 1
  • p.Ala316= Single submitter Singleton-Merten syndrome 1
  • p.Ala430= Single submitter Singleton-Merten syndrome 1
  • p.Ala515= Single submitter Singleton-Merten syndrome 1
  • p.Ala51Ser Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala540= Single submitter Singleton-Merten syndrome 1
  • p.Ala544fs Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala582= Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala589Asp Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala589Ser Single submitter Singleton-Merten syndrome 1
  • p.Ala639= Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala691fs Single submitter Singleton-Merten syndrome 1
  • p.Ala745= Single submitter Singleton-Merten syndrome 1
  • p.Ala815= Single submitter Aicardi-Goutieres syndrome 7
  • p.Ala819= Single submitter Singleton-Merten syndrome 1
  • p.Ala893= Single submitter Singleton-Merten syndrome 1
  • p.Ala914Val Single submitter Singleton-Merten syndrome 1
  • p.Arg12= Single submitter Aicardi-Goutieres syndrome 7
  • p.Arg151Leu Single submitter Singleton-Merten syndrome 1
  • p.Arg186His Single submitter Aicardi-Goutieres syndrome 7
  • p.Arg309= Single submitter Singleton-Merten syndrome 1
  • p.Arg459= Single submitter Singleton-Merten syndrome 1
  • p.Arg470Lys Single submitter Inborn genetic diseases
  • p.Arg595= Single submitter Aicardi-Goutieres syndrome 7
  • p.Arg689= Single submitter Singleton-Merten syndrome 1
  • p.Arg689fs Single submitter Aicardi-Goutieres syndrome 7
  • p.Arg714= Single submitter Singleton-Merten syndrome 1
  • p.Arg720= Single submitter Singleton-Merten syndrome 1
  • p.Arg77= Single submitter Singleton-Merten syndrome 1
  • p.Arg77Leu Single submitter Singleton-Merten syndrome 1
  • p.Arg822= Single submitter Singleton-Merten syndrome 1
  • p.Arg84= Single submitter Aicardi-Goutieres syndrome 7
  • p.Arg850= Single submitter Singleton-Merten syndrome 1
  • p.Asn150= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn191= Single submitter Singleton-Merten syndrome 1
  • p.Asn243= Single submitter Singleton-Merten syndrome 1
  • p.Asn243Tyr Single submitter Singleton-Merten syndrome 1
  • p.Asn279= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn455= Single submitter Singleton-Merten syndrome 1
  • p.Asn456= Single submitter Singleton-Merten syndrome 1
  • p.Asn524= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn530= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn631= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn741= Single submitter Singleton-Merten syndrome 1
  • p.Asn769= Single submitter Singleton-Merten syndrome 1
  • p.Asn784fs Single submitter Aicardi-Goutieres syndrome 7
  • p.Asn802Ter Single submitter Singleton-Merten syndrome 1
  • p.Asn899= Single submitter Singleton-Merten syndrome 1
  • p.Asn899Lys Single submitter Singleton-Merten syndrome 1
  • p.Asn993= Single submitter Singleton-Merten syndrome 1
  • p.Asp1014= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp1023= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp201Asn Single submitter Singleton-Merten syndrome 1
  • p.Asp345= Single submitter
  • p.Asp436= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp548= Single submitter Singleton-Merten syndrome 1
  • p.Asp572= Single submitter Singleton-Merten syndrome 1
  • p.Asp644= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp650= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp651Glu Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp651Gly Single submitter Singleton-Merten syndrome 1
  • p.Asp659Val Single submitter Singleton-Merten syndrome 1
  • p.Asp661Glu Single submitter Singleton-Merten syndrome 1
  • p.Asp662= Single submitter Singleton-Merten syndrome 1
  • p.Asp673= Single submitter Aicardi-Goutieres syndrome 7
  • p.Asp797= Single submitter
  • p.Asp797Tyr Single submitter
  • p.Asp826= Single submitter Singleton-Merten syndrome 1
  • p.Cys202= Single submitter Aicardi-Goutieres syndrome 7
  • p.Cys565Phe Single submitter Singleton-Merten syndrome 1

Uncertain significance 968

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