ClinVar for Gene (Select 128488) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333062	NM_080869.2(WFDC12):c.234A>C (p.Glu78Asp)	WFDC12 (E78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333061	NM_080869.2(WFDC12):c.78G>T (p.Glu26Asp)	WFDC12 (E26D)	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 2591473	NM_080869.2(WFDC12):c.217C>G (p.Pro73Ala)	WFDC12 (P73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554497	NM_080869.2(WFDC12):c.31G>T (p.Val11Leu)	WFDC12 (V11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542201	NM_080869.2(WFDC12):c.5G>T (p.Gly2Val)	WFDC12 (G2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465646	NM_080869.2(WFDC12):c.95G>A (p.Gly32Glu)	WFDC12 (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458998	NM_080869.2(WFDC12):c.269C>T (p.Pro90Leu)	WFDC12 (P90L)	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 2281435	NM_080869.2(WFDC12):c.331A>G (p.Lys111Glu)	WFDC12 (K111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258342	NM_080869.2(WFDC12):c.68G>T (p.Gly23Val)	WFDC12 (G23V)	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