ClinVar for Gene (Select 10406) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363114	WFDC2, EX1-2 DEL	WFDC2	Deletion	BRONCHIECTASIS AND NASAL POLYPOSIS	GPathogenic
Select item 3363113	G91S	WFDC2	Variation	BRONCHIECTASIS AND NASAL POLYPOSIS	GPathogenic
Select item 3363112	C103R	WFDC2	Variation	BRONCHIECTASIS AND NASAL POLYPOSIS	GPathogenic
Select item 3363111	C49R	WFDC2	Variation	BRONCHIECTASIS AND NASAL POLYPOSIS	GPathogenic
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 3190473	NM_006103.4(WFDC2):c.29C>T (p.Ala10Val)	WFDC2 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190472	NM_006103.4(WFDC2):c.107G>A (p.Cys36Tyr)	WFDC2 (C36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546649	NM_006103.4(WFDC2):c.335A>G (p.Asn112Ser)	WFDC2 (N112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541662	NM_006103.4(WFDC2):c.44T>A (p.Leu15His)	WFDC2 (L15H)	Single nucleotide variant (missense variant)	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 2412481	NM_006103.4(WFDC2):c.221A>G (p.Asn74Ser)	LOC130065964, WFDC2 (N74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258723	NM_006103.4(WFDC2):c.157A>C (p.Ser53Arg)	LOC130065964, WFDC2 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245759	NM_006103.4(WFDC2):c.271G>A (p.Gly91Ser)	WFDC2 (G91S)	Single nucleotide variant (missense variant)	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 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

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Links from Gene

Items: 20