ClinVar for Gene (Select 60598) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287678	NM_022358.4(KCNK15):c.16G>C (p.Val6Leu)	KCNK15, KCNK15-AS1 (V6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287677	NM_022358.4(KCNK15):c.761C>T (p.Pro254Leu)	KCNK15 (P254L)	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 3113378	NM_022358.4(KCNK15):c.926C>T (p.Pro309Leu)	KCNK15 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113377	NM_022358.4(KCNK15):c.88G>C (p.Glu30Gln)	KCNK15, KCNK15-AS1 (E30Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3113376	NM_022358.4(KCNK15):c.752C>A (p.Ala251Asp)	KCNK15 (A251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113375	NM_022358.4(KCNK15):c.751G>A (p.Ala251Thr)	KCNK15 (A251T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113374	NM_022358.4(KCNK15):c.434G>A (p.Cys145Tyr)	KCNK15 (C145Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113373	NM_022358.4(KCNK15):c.430A>G (p.Lys144Glu)	KCNK15 (K144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113372	NM_022358.4(KCNK15):c.302C>T (p.Pro101Leu)	KCNK15 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113371	NM_022358.4(KCNK15):c.178C>A (p.Arg60Ser)	KCNK15, KCNK15-AS1 (R60S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2559796	NM_022358.4(KCNK15):c.244G>A (p.Gly82Ser)	KCNK15, KCNK15-AS1 (G82S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2530176	NM_022358.4(KCNK15):c.105C>A (p.Ser35Arg)	KCNK15, KCNK15-AS1 (S35R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2523253	NM_022358.4(KCNK15):c.763G>A (p.Glu255Lys)	KCNK15 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486938	NM_022358.4(KCNK15):c.543C>G (p.Phe181Leu)	KCNK15 (F181L)	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 2393014	NM_022358.4(KCNK15):c.754G>A (p.Asp252Asn)	KCNK15 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374294	NM_022358.4(KCNK15):c.529G>A (p.Ala177Thr)	KCNK15 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374166	NM_022358.4(KCNK15):c.565G>A (p.Ala189Thr)	KCNK15 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315711	NM_022358.4(KCNK15):c.575A>G (p.Tyr192Cys)	KCNK15 (Y192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308349	NM_022358.4(KCNK15):c.971G>A (p.Gly324Glu)	KCNK15 (G324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302024	NM_022358.4(KCNK15):c.775C>G (p.Arg259Gly)	KCNK15 (R259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297908	NM_022358.4(KCNK15):c.536C>T (p.Ser179Leu)	KCNK15 (S179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259881	NM_022358.4(KCNK15):c.760C>T (p.Pro254Ser)	KCNK15 (P254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255538	NM_022358.4(KCNK15):c.841G>A (p.Ala281Thr)	KCNK15 (A281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250302	NM_022358.4(KCNK15):c.976C>T (p.Arg326Trp)	KCNK15 (R326W)	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 816128	GRCh37/hg19 20q13.12(chr20:43182384-43480170)x3	PKIG, CCN5 +3 more	Copy number gain	not provided	GUncertain significance
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

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Links from Gene

Items: 33