ClinVar for Gene (Select 140832) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333059	NM_080753.3(WFDC10A):c.117A>C (p.Lys39Asn)	WFDC10A, WFDC9 (K39N)	Single nucleotide variant (missense variant +1 more)	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 3190466	NM_080753.3(WFDC10A):c.119T>A (p.Val40Asp)	WFDC10A, WFDC9 (V40D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541409	NM_080753.3(WFDC10A):c.55G>T (p.Ala19Ser)	WFDC10A, WFDC9 (A19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488285	NM_080753.3(WFDC10A):c.155A>T (p.His52Leu)	WFDC10A, WFDC9 (H52L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473916	NM_080753.3(WFDC10A):c.81G>C (p.Lys27Asn)	WFDC10A, WFDC9 (K27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463528	NM_080753.3(WFDC10A):c.73G>A (p.Asp25Asn)	WFDC10A, WFDC9 (D25N)	Single nucleotide variant (missense variant +1 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 2339922	NM_080753.3(WFDC10A):c.78G>C (p.Lys26Asn)	WFDC10A, WFDC9 (K26N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277754	NM_080753.3(WFDC10A):c.193A>G (p.Ile65Val)	WFDC10A, WFDC9 (I65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220136	NM_080753.3(WFDC10A):c.13A>G (p.Thr5Ala)	WFDC10A, WFDC9 (T5A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2214996	NM_080753.3(WFDC10A):c.185C>A (p.Ala62Glu)	WFDC10A, WFDC9 (A62E)	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 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