ClinVar for Gene (Select 140870) - ClinVar - NCBI

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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 3190481	NM_080827.2(WFDC6):c.223G>C (p.Val75Leu)	WFDC6 (V75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089806	NM_001198986.2(EPPIN-WFDC6):c.479G>A (p.Cys160Tyr)	EPPIN-WFDC6, WFDC6 (C160Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089805	NM_001198986.2(EPPIN-WFDC6):c.469A>G (p.Asn157Asp)	EPPIN-WFDC6, WFDC6 (N57D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089804	NM_001198986.2(EPPIN-WFDC6):c.457G>T (p.Asp153Tyr)	EPPIN-WFDC6, WFDC6 (D153Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089803	NM_001198986.2(EPPIN-WFDC6):c.434T>C (p.Ile145Thr)	EPPIN-WFDC6, WFDC6 (I145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089802	NM_001198986.2(EPPIN-WFDC6):c.400C>T (p.Pro134Ser)	EPPIN-WFDC6, WFDC6 (P134S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089801	NM_001198986.2(EPPIN-WFDC6):c.395C>T (p.Pro132Leu)	EPPIN-WFDC6, WFDC6 (P32L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522025	NM_080827.2(WFDC6):c.242A>C (p.His81Pro)	WFDC6 (H81P)	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 2218934	NM_080827.2(WFDC6):c.121G>A (p.Glu41Lys)	EPPIN-WFDC6, WFDC6 (E41K +1 more)	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