ClinVar for Gene (Select 149708) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333066	NM_145652.4(WFDC5):c.70G>A (p.Gly24Ser)	WFDC5 (G24S)	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 3190480	NM_145652.4(WFDC5):c.92C>T (p.Ser31Leu)	WFDC5 (S31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190479	NM_145652.4(WFDC5):c.346G>C (p.Asp116His)	WFDC5 (D116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190478	NM_145652.4(WFDC5):c.340G>A (p.Gly114Arg)	WFDC5 (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602536	NM_145652.4(WFDC5):c.259C>T (p.Arg87Cys)	WFDC5 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509414	NM_145652.4(WFDC5):c.320G>A (p.Arg107Gln)	WFDC5 (R107Q)	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 2379762	NM_145652.4(WFDC5):c.202C>T (p.Arg68Cys)	WFDC5 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304086	NM_145652.4(WFDC5):c.352C>T (p.Arg118Trp)	WFDC5 (R118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205043	NM_145652.4(WFDC5):c.334G>A (p.Ala112Thr)	WFDC5 (A112T)	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