Sugi Variant

Sugi Variant/SAMHD1

SAMHD1 — 949 ClinVar variants

All ClinVar germline SAMHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 300 flagged for review →

67 Pathogenic · 27 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 33 Conflicting · 25 Benign · 8 Benign/Likely benign · 404 Likely benign · 350 Uncertain significance

Full SAMHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 300

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.

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 232

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 232

Predictors split 53

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

All SAMHD1 variants

Pathogenic 67

  • c.1411-2A>G Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg145Ter Multiple submitters SAMHD1-related disorder
  • p.Gln235Ter Multiple submitters chilblain lupus 2
  • p.Gln548Ter Multiple submitters chilblain lupus 2
  • p.Phe217fs Multiple submitters Aicardi-Goutieres syndrome
  • c.1609-1G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.602_625+196delinsGAAATT Single submitter Aicardi-Goutieres syndrome 5
  • c.853-2A>G Single submitter
  • p.Ala160fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala389_Phe390insTer Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala393_Asp394insTer Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala441fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg305fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg352Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg371fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg470fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn345fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp353fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp472_Tyr473insTer Single submitter Aicardi-Goutieres syndrome 5
  • p.Cys177fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln149Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln186fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln256Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln271Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln375Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu166fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu193Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu234Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu242Ter Single submitter chilblain lupus 2
  • p.Glu37Ter Single submitter cerebral palsy
  • p.Glu429Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu479Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu61Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu96fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly404fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly464fs Single submitter Aicardi-Goutieres syndrome 5
  • p.His517_Val518insTer Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile110fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile260fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Leu369fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Leu36fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Leu445fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Leu540fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Lys288fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Lys304Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Lys43Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Lys523Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Lys66Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Phe213fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Phe329fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Phe390fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Phe53fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Pro19fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser23fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser283Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser295fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser482fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser538fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Thr420fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Trp285Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Trp313Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Tyr154fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Tyr155Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Tyr407fs Single submitter Aicardi-Goutieres syndrome 5
  • p.Tyr419Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.Tyr456Ter Single submitter Aicardi-Goutieres syndrome 5
  • p.His123Pro No assertion criteria Aicardi-Goutieres syndrome 5

Pathogenic/Likely pathogenic 27

  • c.1062+1G>T Multiple submitters Aicardi-Goutieres syndrome 5
  • c.626-1G>C Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ala529fs Multiple submitters Aicardi-Goutieres syndrome
  • p.Arg106Ter Multiple submitters Aicardi-Goutieres syndrome
  • p.Arg134Ter Multiple submitters Aicardi-Goutieres syndrome
  • p.Arg143Cys Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg143His Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg164Ter Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg194Ter Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg220Ter Multiple submitters Aicardi-Goutieres syndrome
  • p.Arg442Ter Multiple submitters SAMHD1-related disorder
  • p.Arg551Ter Multiple submitters Aicardi-Goutieres syndrome
  • p.Gln190fs Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Gln49Ter Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Glu479fs Multiple submitters Aicardi-Goutieres syndrome
  • p.Gly209Ser Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ile201Asn Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ile222fs Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ile448Thr Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Lys492fs Multiple submitters Aicardi-Goutieres syndrome
  • p.Met216fs Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Met505fs Multiple submitters Aicardi-Goutieres syndrome
  • p.Phe316fs Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ser23Ter Multiple submitters Aicardi-Goutieres syndrome
  • p.Trp231Ter Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Tyr287Ter Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Val340_Cys341insTer Multiple submitters Aicardi-Goutieres syndrome 5

Likely pathogenic 35

  • c.349-6_354del Multiple submitters Inborn genetic diseases
  • c.509+1G>A Multiple submitters Aicardi-Goutieres syndrome
  • p.Arg145Pro Multiple submitters Inborn genetic diseases
  • p.Arg290His Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1271-1G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1271-2A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+1G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+1G>T Single submitter SAMHD1-related disorder
  • c.1504-1G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+1G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-1G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-2A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1609del Single submitter Aicardi-Goutieres syndrome
  • c.275+2T>G Single submitter Aicardi-Goutieres syndrome
  • c.349-1G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.349-2A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.625+1G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.625+2T>C Single submitter SAMHD1-related disorder
  • c.626-8_687dup Single submitter SAMHD1-related disorder
  • c.696+2T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.697-1G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.697-2A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.852+1G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.852+1G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.853-1G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.953+1G>A Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln536= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln539Ter Single submitter chilblain lupus 2
  • p.Gly219fs Single submitter
  • p.Gly75fs Single submitter Aicardi-Goutieres syndrome
  • p.Ile191Val Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Leu323Pro Single submitter Aicardi-Goutieres syndrome 5
  • p.Met240fs Single submitter Aicardi-Goutieres syndrome
  • p.Tyr155fs Single submitter Aicardi-Goutieres syndrome
  • p.Glu87Gln No assertion criteria plasma cell myeloma ⚠

Conflicting classifications of pathogenicity 33

  • c.1503+1G>A Single submitter Prostate cancer susceptibility
  • c.1608+6T>A Single submitter Aicardi-Goutieres syndrome 5
  • c.697-11A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.-10A>G Single submitter chilblain lupus 2
  • c.-31T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.-39C>A Single submitter Aicardi-Goutieres syndrome 5
  • c.*240G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.*95T>C Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala181= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg134Gln Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Arg145Gln Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Arg226Gly Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg290Cys Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Arg442Gln Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Arg528Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg609Cys Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Arg611Gln Single submitter Inborn genetic diseases ⚠
  • p.Asp330= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp575= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln465Lys Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Glu342Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly170= Single submitter Inborn genetic diseases
  • p.Leu431Phe Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Lys486Arg Single submitter Inborn genetic diseases ⚠
  • p.Met1Lys Single submitter Inborn genetic diseases
  • p.Met1Thr Single submitter Aicardi-Goutieres syndrome
  • p.Phe165Ser Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Pro26Leu Single submitter Aicardi-Goutieres syndrome 5 ⚠
  • p.Pro581= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ser482Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser561fs Single submitter chilblain lupus 2
  • p.Tyr331= Single submitter chilblain lupus 2
  • p.Val280= Single submitter Aicardi-Goutieres syndrome 5

Benign 25

Benign/Likely benign 8

  • c.208+8C>T Multiple submitters Aicardi-Goutieres syndrome 5
  • c.275+8T>A Multiple submitters Aicardi-Goutieres syndrome 5
  • c.348+18T>G Multiple submitters Aicardi-Goutieres syndrome 5
  • c.-166G>T Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ala564= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Asn599= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Pro79= Multiple submitters Aicardi-Goutieres syndrome 5
  • c.*120C>T Single submitter Aicardi-Goutieres syndrome 5

Likely benign 404

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

  • c.1063-7C>T Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1154+15T>G Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1154+9C>T Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1411-18G>A Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1747-17CT[3] Multiple submitters Aicardi-Goutieres syndrome 5
  • c.209-4A>G Multiple submitters Inborn genetic diseases
  • c.276-12T>C Multiple submitters Aicardi-Goutieres syndrome 5
  • c.349-18T>C Multiple submitters Aicardi-Goutieres syndrome 5
  • c.509+10G>A Multiple submitters Aicardi-Goutieres syndrome 5
  • c.510-17G>A Multiple submitters Aicardi-Goutieres syndrome 5
  • c.696+14C>T Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg408= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Arg97= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Asp414= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Asp440= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Asp490= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Asp506= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Gln256= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Gln375= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Glu262= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Glu48= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Gly584= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.His111= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ile265= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu128= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu182= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu38= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu541= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu77= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Leu81= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ser6= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Ser616= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Thr114= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Tyr154= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Tyr450= Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Val112Ile Multiple submitters Aicardi-Goutieres syndrome 5
  • p.Val179= Multiple submitters Aicardi-Goutieres syndrome 5
  • c.1062+10G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+12C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+13A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+14G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+17G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+19G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+20G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+7T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1062+8G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1063-13T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1063-15C>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1063-16T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1063-4G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1063-6C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1154+12G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1154+12G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1154+13A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1154+14T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1155-16G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1155-8A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+10A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+15G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+17A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+18A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+20A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1270+7A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1271-13A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1271-14C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1271-14C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1271-18A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+12G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+15A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+15A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+17C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+6dup Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+8A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+8dup Single submitter Aicardi-Goutieres syndrome 5
  • c.1410+9T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-11G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-13T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-15T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-15T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-17A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-19G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-19G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-20G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-5T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1411-7T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+10del Single submitter
  • c.1503+11A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+11A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+12G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+15C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+16A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+16A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1503+9T>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1504-11C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1504-13T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1504-17G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1504-19G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1504-3del Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+10T>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+14C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+20A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+7A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+8C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1608+9T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-11A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-15C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-17C>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1609-4A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+10C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+17_1746+20del Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+17T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+17T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+18C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+7G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+8G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1746+9C>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1747-12_1747-9del Single submitter Aicardi-Goutieres syndrome 5
  • c.1747-15C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.1747-16T>A Single submitter Aicardi-Goutieres syndrome 5
  • c.1747-17dup Single submitter Aicardi-Goutieres syndrome 5
  • c.1747-8C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.208+11C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.208+12G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.208+12G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.208+13G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.208+13G>C Single submitter
  • c.209-10T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.209-15dup Single submitter Aicardi-Goutieres syndrome 5
  • c.209-17T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.209-18G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.209-7T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.209-9C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.209-9del Single submitter Aicardi-Goutieres syndrome 5
  • c.275+15A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.275+16T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.275+7A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.275+9G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.275+9G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.276-10G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.276-11T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.276-13A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.276-15C>G Single submitter Aicardi-Goutieres syndrome 5
  • c.276-16C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.276-20T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.276-8A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.276-9T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.348+13G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.348+14A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.348+17T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.348+19_348+21del Single submitter Aicardi-Goutieres syndrome 5
  • c.348+19G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.348+7G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.348+7G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.348+9A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.349-11_349-10del Single submitter Aicardi-Goutieres syndrome 5
  • c.349-11T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.349-13C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.349-14A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.349-16A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.349-18_349-15del Single submitter Aicardi-Goutieres syndrome 5
  • c.349-5T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.509+11A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.509+14G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.509+17G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.509+8G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.509+9G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.510-10T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.510-13T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.510-14T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.510-17G>T Single submitter Aicardi-Goutieres syndrome 5
  • c.510-19_510-18del Single submitter Aicardi-Goutieres syndrome 5
  • c.510-20T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.510-7T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.625+10A>T Single submitter Aicardi-Goutieres syndrome 5
  • c.625+11C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.625+12A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.625+17G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.625+17G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.625+19C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.625+8G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.626-12T>A Single submitter
  • c.626-15G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.626-17C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.626-5T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.626-63del Single submitter
  • c.626-63dup Single submitter
  • c.626-8T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.626-9G>C Single submitter Aicardi-Goutieres syndrome 5
  • c.696+10C>A Single submitter Aicardi-Goutieres syndrome 5
  • c.696+17T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.696+20A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.696+7A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.697-13T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.697-20A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.697-5C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.852+11G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.852+14C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.852+15A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.852+16G>A Single submitter Aicardi-Goutieres syndrome 5
  • c.852+17C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.953+12A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.953+15C>T Single submitter Aicardi-Goutieres syndrome 5
  • c.953+18C>A Single submitter
  • c.953+19T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.953+7A>C Single submitter Aicardi-Goutieres syndrome 5
  • c.953+7A>G Single submitter Aicardi-Goutieres syndrome 5
  • c.954-15T>C Single submitter Aicardi-Goutieres syndrome 5
  • c.954-17T>G Single submitter Aicardi-Goutieres syndrome 5
  • c.954-24CT[2] Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala160= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala175= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala28= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala30= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala338= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala351= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala393= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala4= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala418= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala481= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala546= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala565= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala613= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ala76= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg106= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg134= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg164= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg194= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg20= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg226= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg3= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg333= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg442= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg56= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg609= Single submitter Aicardi-Goutieres syndrome 5
  • p.Arg611= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn119= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn248= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn293= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn425= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asn527= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp113= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp137= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp16= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp282= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp31= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp383= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp395= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp472= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp5= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp558= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp583= Single submitter Aicardi-Goutieres syndrome 5
  • p.Asp624= Single submitter Aicardi-Goutieres syndrome 5
  • p.Cys341= Single submitter Aicardi-Goutieres syndrome 5
  • p.Cys350= Single submitter Aicardi-Goutieres syndrome 5
  • p.Cys51= Single submitter Aicardi-Goutieres syndrome 5
  • p.Cys554= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln149= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln49= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln567= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gln594= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu127= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu166= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu234= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu270= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu299= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu342= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu346= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu346Lys Single submitter Inborn genetic diseases
  • p.Glu37= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu37Asp Single submitter
  • p.Glu398= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu443= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu474= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu479= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu543= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu60= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu7= Single submitter Aicardi-Goutieres syndrome 5
  • p.Glu96= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly153= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly159= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly172= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly219= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly249= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly258= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly274= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly289= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly58= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly75= Single submitter Aicardi-Goutieres syndrome 5
  • p.Gly95= Single submitter Aicardi-Goutieres syndrome 5
  • p.His123= Single submitter Aicardi-Goutieres syndrome 5
  • p.His167= Single submitter Aicardi-Goutieres syndrome 5
  • p.His180= Single submitter Aicardi-Goutieres syndrome 5
  • p.His215= Single submitter Aicardi-Goutieres syndrome 5
  • p.His233= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile110= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile122= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile126= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile147= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile260= Single submitter Aicardi-Goutieres syndrome 5
  • p.Ile308= Single submitter Aicardi-Goutieres syndrome 5

Uncertain significance 350

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