WFDC11[gene] - ClinVar - NCBI

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

Search results

Items: 14

	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 2376071	NM_147197.2(WFDC11):c.248C>T (p.Thr83Ile)	WFDC11 (T83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480836	NM_147197.2(WFDC11):c.235A>G (p.Ile79Val)	WFDC11 (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282317	NM_147197.2(WFDC11):c.196T>C (p.Tyr66His)	WFDC11 (Y66H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333060	NM_147197.2(WFDC11):c.32T>C (p.Met11Thr)	WFDC11 (M11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290051	NM_147197.2(WFDC11):c.25A>G (p.Ile9Val)	WFDC11 (I9V)	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