Sugi Variant

Sugi Variant/CARD11

CARD11 — 1281 ClinVar variants

All ClinVar germline CARD11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 528 flagged for review →

22 Pathogenic · 2 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 75 Conflicting · 45 Benign · 23 Benign/Likely benign · 588 Likely benign · 502 Uncertain significance

Full CARD11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 528

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 44

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 264

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 264

Predictors split 216

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 216

All CARD11 variants

Pathogenic 22

  • p.Gly123Asp Multiple submitters BENTA disease ⚠
  • p.Gly123Ser Multiple submitters BENTA disease ⚠
  • p.Arg555fs Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg688Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg837Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg884fs Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg888fs Single submitter BENTA disease
  • p.Arg891Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Cys49Tyr Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Gln226Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Gln265Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Gln288Ter Single submitter immunodeficiency 11b with atopic dermatitis
  • p.Glu813Ter Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Gly860fs Single submitter BENTA disease
  • p.Leu267fs Single submitter BENTA disease
  • p.Leu895fs Single submitter BENTA disease
  • p.Tyr631Ter Single submitter BENTA disease
  • c.2704-890_2839+352del No assertion criteria severe combined immunodeficiency due to CARD11 deficiency
  • p.Gln945Ter No assertion criteria severe combined immunodeficiency due to CARD11 deficiency
  • p.Glu134Gly No assertion criteria BENTA disease
  • p.Lys196_Val197insMetLysGluGluArgAspSerTyrAsnAspGluLeuValLys No assertion criteria immunodeficiency 11b with atopic dermatitis
  • p.Lys344del No assertion criteria BENTA disease

Pathogenic/Likely pathogenic 2

  • p.Arg30Trp Multiple submitters immunodeficiency 11b with atopic dermatitis
  • p.Arg47His Multiple submitters severe combined immunodeficiency due to CARD11 deficiency

Likely pathogenic 24

  • c.1143+1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+1G>T Single submitter BENTA disease
  • c.1940+1G>T Single submitter BENTA disease
  • c.1941-1G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2269+2T>C Single submitter BENTA disease
  • c.3019+1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.358+1_358+9delinsAACATC Single submitter immunodeficiency 11b with atopic dermatitis
  • c.359-1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.7+1G>A Single submitter
  • c.7+1G>C Single submitter BENTA disease
  • c.8-1G>A Single submitter BENTA disease
  • c.864+1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+1G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala40Asp Single submitter immunodeficiency 11b with atopic dermatitis
  • p.Gln48Pro Single submitter BENTA disease
  • p.Glu1043Ter Single submitter
  • p.Gly126Asp Single submitter BENTA disease ⚠
  • p.His802fs Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Leu80Pro Single submitter
  • p.Pro833Ser Single submitter
  • p.Arg30Gly No assertion criteria BENTA disease
  • p.Arg72Leu No assertion criteria immunodeficiency 11b with atopic dermatitis
  • p.Ser775Leu No assertion criteria immunodeficiency 11b with atopic dermatitis
  • p.Thr43Arg No assertion criteria immunodeficiency 11b with atopic dermatitis

Conflicting classifications of pathogenicity 75

  • c.1143+10C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1341+15G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1342-4C>T Single submitter BENTA disease
  • c.220+1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • c.2608-8C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+4A>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+9C>T Single submitter BENTA disease
  • c.3145-3C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.358+1G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • c.*4G>A Single submitter BENTA disease
  • p.Ala1038Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ala1044Ser Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ala1047Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ala510Thr Single submitter BENTA disease ⚠
  • p.Ala534Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ala687Thr Single submitter BENTA disease ⚠
  • p.Ala817Thr Single submitter immunodeficiency 11b with atopic dermatitis ⚠
  • p.Arg1144His Single submitter Inborn genetic diseases ⚠
  • p.Arg292Cys Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg30Gln Single submitter Primary immunodeficiency or monogenic inflammatory bowel disease ⚠
  • p.Arg660Gln Single submitter BENTA disease ⚠
  • p.Arg688Gln Single submitter BENTA disease ⚠
  • p.Arg707Cys Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg72Gln Single submitter BENTA disease ⚠
  • p.Arg759Gln Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg75Gln Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg75Trp Single submitter immunodeficiency 11b with atopic dermatitis ⚠
  • p.Arg848Cys Single submitter BENTA disease ⚠
  • p.Arg866Gln Single submitter BENTA disease ⚠
  • p.Arg912Gln Single submitter immunodeficiency 11b with atopic dermatitis ⚠
  • p.Arg912Pro Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg967Cys Single submitter BENTA disease ⚠
  • p.Arg967His Single submitter immunodeficiency 11b with atopic dermatitis ⚠
  • p.Arg973Cys Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg973His Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg974Cys Single submitter BENTA disease ⚠
  • p.Arg974His Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg975Trp Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Asn191Ser Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Asn443Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn957Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp1137Val Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Asp580Glu Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Asp767= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp882Asn Single submitter BENTA disease ⚠
  • p.Glu1021Asp Single submitter BENTA disease ⚠
  • p.Gly1059Ser Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Gly1140Ser Single submitter BENTA disease ⚠
  • p.His658Gln Single submitter Inborn genetic diseases ⚠
  • p.His825Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile458Ser Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Leu251Pro Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Leu347Pro Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Leu846Pro Single submitter Inborn genetic diseases ⚠
  • p.Lys164Gln Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Met1124Val Single submitter BENTA disease ⚠
  • p.Met239Val Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Phe130Ile Single submitter BENTA disease ⚠
  • p.Pro484Ser Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Pro536Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro553Leu Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ser605Gly Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ser665Leu Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ser744Asn Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ser904Asn Single submitter BENTA disease ⚠
  • p.Thr43Met Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Thr532Met Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Thr669Met Single submitter BENTA disease ⚠
  • p.Thr670Met Single submitter BENTA disease ⚠
  • p.Val1128Ile Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Val171Met Single submitter BENTA disease ⚠
  • p.Val195Leu Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Val747Ile Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Val803Ile Single submitter Inborn genetic diseases ⚠
  • p.Val983Met Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠

Benign 45

  • c.1654-29C>T Multiple submitters immunodeficiency 11b with atopic dermatitis
  • c.1755-20A>C Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-20del Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.1808-12G>A Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.2142+13C>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.220+16C>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+6G>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.2839+70A>G Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+6C>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala565= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg1092= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg404= Multiple submitters BENTA disease
  • p.Arg75= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asn916= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp415= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp533= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Glu420= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ile1042= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Leu782= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Pro874= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ser480= Multiple submitters BENTA disease
  • p.Thr748= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Thr748Ala Multiple submitters severe combined immunodeficiency due to CARD11 deficiency ⚠
  • c.1017+20G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1018-66A>G Single submitter
  • c.1570+97T>C Single submitter
  • c.1654-27G>A Single submitter
  • c.1755-17del Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-26T>C Single submitter
  • c.2142+14G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2269+27C>T Single submitter
  • c.2511-77G>A Single submitter
  • c.2704-91G>A Single submitter
  • c.2840-6T>C Single submitter
  • c.3019+17G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+35G>A Single submitter
  • c.3144+156G>C Single submitter
  • c.3261-76G>T Single submitter
  • c.358+17T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp20= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp53= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp789= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Glu528Lys Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.His527= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Leu628= Single submitter severe combined immunodeficiency due to CARD11 deficiency

Benign/Likely benign 23

  • c.1143+12A>C Multiple submitters BENTA disease
  • c.2270-4G>A Multiple submitters BENTA disease
  • c.3019+7G>A Multiple submitters BENTA disease
  • c.3144+9G>A Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala1038Val Multiple submitters Inborn genetic diseases
  • p.Ala581Thr Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala687= Multiple submitters BENTA disease
  • p.Ala817= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg641= Multiple submitters BENTA disease
  • p.Asn1030= Multiple submitters BENTA disease
  • p.Asp315= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp604= Multiple submitters BENTA disease
  • p.Cys971= Multiple submitters BENTA disease
  • p.Glu409= Multiple submitters BENTA disease
  • p.Glu530Asp Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ile544Leu Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Leu1132= Multiple submitters BENTA disease
  • p.Leu173= Multiple submitters BENTA disease
  • p.Leu269= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Pro833= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ser537Thr Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ser881Gly Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Val60= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency

Likely benign 588

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

  • c.1017+7G>C Multiple submitters BENTA disease
  • c.1519-7C>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.1571-10G>A Multiple submitters BENTA disease
  • c.1808-13C>T Multiple submitters BENTA disease
  • c.3144+14T>C Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.3144+8G>A Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.3145-14C>T Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.3260+14A>G Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala581= Multiple submitters BENTA disease
  • p.Ala687Val Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala877= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg235= Multiple submitters BENTA disease
  • p.Arg707His Multiple submitters severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Asp1152Asn Multiple submitters immunodeficiency 11b with atopic dermatitis
  • p.Asp475= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp597= Multiple submitters BENTA disease
  • p.Asp629= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Asp859= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Gly594= Multiple submitters BENTA disease
  • p.Gly860Ser Multiple submitters immunodeficiency 11b with atopic dermatitis
  • p.Gly87= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.His527Gln Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ile1139= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Leu174= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Phe902= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Pro495= Multiple submitters BENTA disease
  • p.Pro6Thr Multiple submitters BENTA disease
  • p.Ser352= Multiple submitters BENTA disease
  • p.Ser593= Multiple submitters BENTA disease
  • p.Ser694= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Ser906= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Thr1020= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Thr1020Met Multiple submitters severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Val1009Ile Multiple submitters severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Val659Met Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • p.Val819= Multiple submitters severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+10G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+14T>A Single submitter BENTA disease
  • c.1017+15C>G Single submitter BENTA disease
  • c.1017+15C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+16G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+16G>T Single submitter BENTA disease
  • c.1017+18C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1017+20G>C Single submitter BENTA disease
  • c.1017+3G>A Single submitter BENTA disease
  • c.1017+9G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1018-10T>C Single submitter BENTA disease
  • c.1018-15C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1143+10C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1143+13C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1143+15T>C Single submitter BENTA disease
  • c.1143+20C>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1143+20C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1144-11C>T Single submitter BENTA disease
  • c.1144-14del Single submitter BENTA disease
  • c.1144-15G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1144-16C>T Single submitter BENTA disease
  • c.1144-20G>A Single submitter BENTA disease
  • c.1341+12C>T Single submitter BENTA disease
  • c.1341+13G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1341+7C>T Single submitter BENTA disease
  • c.1341+8G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1341+9G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1342-17T>C Single submitter BENTA disease
  • c.1342-18C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1342-19G>T Single submitter BENTA disease
  • c.1342-7T>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1342-9T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1518+20G>A Single submitter BENTA disease
  • c.1519-7C>A Single submitter BENTA disease
  • c.1570+11C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1570+12G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1570+8A>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1571-10G>T Single submitter BENTA disease
  • c.1571-11C>T Single submitter BENTA disease
  • c.1571-16T>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1571-17G>A Single submitter BENTA disease
  • c.1571-17G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1653+11G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1653+20C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1654-12C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1654-14G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1654-17T>C Single submitter BENTA disease
  • c.1654-18G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1654-19T>C Single submitter BENTA disease
  • c.1654-22GT[4] Single submitter BENTA disease
  • c.1754+10A>G Single submitter BENTA disease
  • c.1754+15A>T Single submitter BENTA disease
  • c.1754+16G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1754+16G>T Single submitter BENTA disease
  • c.1754+9C>T Single submitter BENTA disease
  • c.1755-11G>C Single submitter BENTA disease
  • c.1755-13T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-15C>A Single submitter BENTA disease
  • c.1755-17_1755-15del Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-17_1755-16del Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-17T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-18C>A Single submitter BENTA disease
  • c.1755-18dup Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-20_1755-19del Single submitter BENTA disease
  • c.1755-20_1755-19delinsCG Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1755-4G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+12T>A Single submitter BENTA disease
  • c.1807+13C>T Single submitter BENTA disease
  • c.1807+15G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+15G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+20G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+20G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1807+7G>T Single submitter BENTA disease
  • c.1808-15C>T Single submitter BENTA disease
  • c.1808-18G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1808-4G>A Single submitter BENTA disease
  • c.1808-8C>G Single submitter BENTA disease
  • c.1808-9C>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1940+13A>G Single submitter BENTA disease
  • c.1940+14G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1940+15G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1941-15T>G Single submitter BENTA disease
  • c.1941-17T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.1941-7G>T Single submitter BENTA disease
  • c.1941-9C>G Single submitter BENTA disease
  • c.2142+9A>T Single submitter BENTA disease
  • c.2143-15G>T Single submitter BENTA disease
  • c.2143-19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.220+11_220+12delinsTT Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.220+11G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.220+12A>G Single submitter BENTA disease
  • c.221-13G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.221-5C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.221-8T>C Single submitter BENTA disease
  • c.2269+18C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2269+19G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2269+20T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2269+7C>A Single submitter BENTA disease
  • c.2269+7C>T Single submitter BENTA disease
  • c.2270-17C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2270-4G>C Single submitter BENTA disease
  • c.2270-4G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2270-5C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2270-6C>T Single submitter BENTA disease
  • c.2510+19C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2510+19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2510+20G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2511-10C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2511-13C>T Single submitter BENTA disease
  • c.2511-19T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2511-9G>A Single submitter BENTA disease
  • c.2607+14G>A Single submitter BENTA disease
  • c.2607+15C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2607+18C>G Single submitter BENTA disease
  • c.2607+18C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2607+19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2607+20T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2607+8T>C Single submitter BENTA disease
  • c.2607+9G>C Single submitter BENTA disease
  • c.2608-12A>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2608-14T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2608-18T>C Single submitter BENTA disease
  • c.2703+12C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+13G>A Single submitter BENTA disease
  • c.2703+16G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+17C>A Single submitter BENTA disease
  • c.2703+17C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+19C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2703+9C>T Single submitter BENTA disease
  • c.2704-10T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2704-13T>G Single submitter BENTA disease
  • c.2704-15C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2704-3del Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2704-5_2704-3del Single submitter BENTA disease
  • c.2704-6C>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2704-9C>G Single submitter BENTA disease
  • c.2839+11A>G Single submitter BENTA disease
  • c.2839+13C>T Single submitter BENTA disease
  • c.2839+17T>C Single submitter
  • c.2839+19G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2840-19C>T Single submitter BENTA disease
  • c.2840-5G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2840-5G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.2840-6dup Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+10G>A Single submitter BENTA disease
  • c.3019+13C>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+16C>T Single submitter BENTA disease
  • c.3019+17G>C Single submitter BENTA disease
  • c.3019+19C>G Single submitter BENTA disease
  • c.3019+19C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3019+7G>T Single submitter BENTA disease
  • c.3019+8G>A Single submitter BENTA disease
  • c.3020-10C>G Single submitter BENTA disease
  • c.3020-12C>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3020-12CT[3] Single submitter BENTA disease
  • c.3020-4G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3020-8C>G Single submitter BENTA disease
  • c.3144+20G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3144+7C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3144+7C>T Single submitter BENTA disease
  • c.3145-12C>T Single submitter BENTA disease
  • c.3145-13G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3145-13G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3145-14C>G Single submitter BENTA disease
  • c.3145-4G>A Single submitter BENTA disease
  • c.3145-5C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3260+12A>G Single submitter BENTA disease
  • c.3260+13G>C Single submitter BENTA disease
  • c.3260+14A>C Single submitter BENTA disease
  • c.3260+16C>A Single submitter BENTA disease
  • c.3260+7C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-12G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-14G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-14G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-15C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-19C>T Single submitter BENTA disease
  • c.3261-4C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.3261-5C>G Single submitter BENTA disease
  • c.3261-7C>T Single submitter BENTA disease
  • c.358+7G>A Single submitter BENTA disease
  • c.358+8C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.359-11C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.359-13C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.359-20T>G Single submitter BENTA disease
  • c.684+13C>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.684+14A>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.684+8G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.685-17C>A Single submitter BENTA disease
  • c.685-18A>G Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.685-9G>T Single submitter BENTA disease
  • c.7+10A>G Single submitter BENTA disease
  • c.7+18T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.7+19C>G Single submitter BENTA disease
  • c.7+7G>A Single submitter BENTA disease
  • c.7+7G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.7+8G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.8-16G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.8-20T>C Single submitter BENTA disease
  • c.8-6T>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.8-7C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.8-9G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+13G>A Single submitter BENTA disease
  • c.864+14G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+16_864+18dup Single submitter BENTA disease
  • c.864+16C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+17G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+18G>C Single submitter BENTA disease
  • c.864+19G>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+20G>A Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+7G>C Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.864+8C>T Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • c.865-18C>T Single submitter BENTA disease
  • c.865-7C>T Single submitter BENTA disease
  • p.Ala1033= Single submitter BENTA disease
  • p.Ala1033Thr Single submitter BENTA disease
  • p.Ala1033Val Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala1046= Single submitter BENTA disease
  • p.Ala154= Single submitter BENTA disease
  • p.Ala218= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala289= Single submitter BENTA disease
  • p.Ala300= Single submitter BENTA disease
  • p.Ala598Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala701= Single submitter BENTA disease
  • p.Ala704= Single submitter BENTA disease
  • p.Ala790Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala817Val Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala838= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala877Val Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala968= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Ala968Thr Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Ala985= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg1017= Single submitter BENTA disease
  • p.Arg1027Gln Single submitter BENTA disease ⚠
  • p.Arg1101= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg1101His Single submitter severe combined immunodeficiency due to CARD11 deficiency ⚠
  • p.Arg1104Gln Single submitter BENTA disease
  • p.Arg1133= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg1133His Single submitter BENTA disease ⚠
  • p.Arg1144= Single submitter BENTA disease
  • p.Arg149= Single submitter BENTA disease
  • p.Arg170= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg187= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg207= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg260= Single submitter BENTA disease
  • p.Arg292= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg30= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg377Gln Single submitter BENTA disease ⚠
  • p.Arg418= Single submitter BENTA disease
  • p.Arg424= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg436= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg436Gln Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg468= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg518= Single submitter BENTA disease
  • p.Arg518Gln Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg555= Single submitter BENTA disease
  • p.Arg555Gln Single submitter BENTA disease
  • p.Arg557= Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg557His Single submitter severe combined immunodeficiency due to CARD11 deficiency
  • p.Arg576= Single submitter BENTA disease
  • p.Arg608His Single submitter BENTA disease
  • p.Arg650= Single submitter severe combined immunodeficiency due to CARD11 deficiency

Uncertain significance 502

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