116092[Gene ID] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3084852	NM_052951.3(DNTTIP1):c.11C>G (p.Thr4Ser)	DNTTIP1 (T4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273265	NM_052951.3(DNTTIP1):c.19G>A (p.Ala7Thr)	DNTTIP1 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348988	NM_052951.3(DNTTIP1):c.180C>A (p.Phe60Leu)	DNTTIP1 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084853	NM_052951.3(DNTTIP1):c.238G>C (p.Glu80Gln)	DNTTIP1 (E80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384750	NM_052951.3(DNTTIP1):c.286G>A (p.Ala96Thr)	DNTTIP1 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233417	NM_052951.3(DNTTIP1):c.287C>G (p.Ala96Gly)	DNTTIP1 (A96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273266	NM_052951.3(DNTTIP1):c.289G>A (p.Ala97Thr)	DNTTIP1 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084854	NM_052951.3(DNTTIP1):c.328G>A (p.Ala110Thr)	DNTTIP1 (A110T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084855	NM_052951.3(DNTTIP1):c.473A>C (p.His158Pro)	DNTTIP1 (H158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558436	NM_052951.3(DNTTIP1):c.527T>C (p.Leu176Pro)	DNTTIP1 (L176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349469	NM_052951.3(DNTTIP1):c.539G>A (p.Arg180Gln)	DNTTIP1 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604280	NM_052951.3(DNTTIP1):c.598C>G (p.Pro200Ala)	DNTTIP1 (P200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347000	NM_052951.3(DNTTIP1):c.864T>A (p.Asp288Glu)	DNTTIP1 (D288E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273264	NM_052951.3(DNTTIP1):c.961C>T (p.Arg321Cys)	DNTTIP1 (R321C)	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 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
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

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Items: 23