SDC4[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 146648	GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3	LOC130065956, LOC130065957 +11 more	Copy number gain	See cases	GBenign
Select item 3316787	NM_002999.4(SDC4):c.592G>A (p.Ala198Thr)	SDC4 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158878	NM_002999.4(SDC4):c.531A>C (p.Glu177Asp)	SDC4 (E177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346544	NM_002999.4(SDC4):c.512G>A (p.Arg171His)	SDC4 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158877	NM_002999.4(SDC4):c.511C>T (p.Arg171Cys)	SDC4 (R171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158876	NM_002999.4(SDC4):c.484G>A (p.Val162Ile)	SDC4 (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299643	NM_002999.4(SDC4):c.458G>C (p.Gly153Ala)	SDC4 (G153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444106	NM_002999.4(SDC4):c.446-1455C>T	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444111	NM_002999.4(SDC4):c.445+251C>T	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 2373597	NM_002999.4(SDC4):c.412A>G (p.Ser138Gly)	SDC4 (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354835	NM_002999.4(SDC4):c.404T>G (p.Val135Gly)	SDC4 (V135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311728	NM_002999.4(SDC4):c.331G>T (p.Val111Phe)	SDC4 (V111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531870	NM_002999.4(SDC4):c.223G>A (p.Gly75Ser)	SDC4 (G75S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 444113	NM_002999.4(SDC4):c.199+134A>G	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 2309577	NM_002999.4(SDC4):c.154G>C (p.Gly52Arg)	SDC4 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256296	NM_002999.4(SDC4):c.133G>A (p.Asp45Asn)	SDC4 (D45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444109	NM_002999.4(SDC4):c.61-965T>C	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444115	NM_002999.4(SDC4):c.61-4447del	RBPJL, SDC4	Deletion (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 3316788	NM_002999.4(SDC4):c.13C>T (p.Arg5Cys)	SDC4 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 221547	GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3	DBNDD2, PIGT +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29