10661[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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	NC_000020.11:g.45328870G>A	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444111	NC_000020.11:g.45330115G>A	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	NC_000020.11:g.45335648T>C	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	NC_000020.11:g.45336885A>G	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444115	NC_000020.11:g.45340368del	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	ACOT8, ADA +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	ACOT8, ADA +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)	AAR2, ABHD12 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29