ClinVar Miner

List of variants in gene CTSD reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
NM_001909.5(CTSD):c.1071+6C>T rs759803379
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.5(CTSD):c.223A>G (p.Met75Val)
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.68+6G>A
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.927C>T (p.Arg309=)
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072

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