ClinVar for Gene (Select 280664) - ClinVar - NCBI

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

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3190471	NM_172005.2(WFDC13):c.82G>A (p.Val28Ile)	WFDC10B, WFDC13 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190470	NM_172005.2(WFDC13):c.79C>T (p.Arg27Cys)	WFDC10B, WFDC13 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190469	NM_172005.2(WFDC13):c.205G>A (p.Val69Ile)	WFDC10B, WFDC13 (V69I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190468	NM_172006.2(WFDC10B):c.-178G>A	WFDC10B, WFDC13 (S9N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3190467	NM_172006.2(WFDC10B):c.103T>C (p.Cys35Arg)	WFDC10B (C51R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541420	NM_172006.2(WFDC10B):c.-133G>A	WFDC10B, WFDC13 (C24Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2303887	NM_172005.2(WFDC13):c.95T>A (p.Ile32Asn)	WFDC10B, WFDC13 (I32N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226905	NM_172005.2(WFDC13):c.14T>G (p.Leu5Arg)	WFDC10B, WFDC13 (L5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 780608	NM_172005.2(WFDC13):c.111C>T (p.Pro37=)	WFDC10B, WFDC13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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