ClinVar for Gene (Select 10953) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328021	NM_006809.5(TOMM34):c.364G>A (p.Val122Ile)	TOMM34 (V122I)	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 3181131	NM_006809.5(TOMM34):c.514A>G (p.Ser172Gly)	TOMM34 (S172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617752	NM_006809.5(TOMM34):c.799C>T (p.Arg267Trp)	TOMM34 (R267W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616718	NM_006809.5(TOMM34):c.269G>A (p.Arg90Gln)	TOMM34 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553060	NM_006809.5(TOMM34):c.404C>T (p.Ser135Leu)	TOMM34 (S135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537122	NM_006809.5(TOMM34):c.260C>A (p.Pro87His)	TOMM34 (P87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466947	NM_006809.5(TOMM34):c.896A>G (p.Lys299Arg)	TOMM34 (K299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456917	NM_006809.5(TOMM34):c.236C>T (p.Ala79Val)	TOMM34 (A79V)	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 2388626	NM_006809.5(TOMM34):c.139C>T (p.Pro47Ser)	TOMM34 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319429	NM_006809.5(TOMM34):c.7C>T (p.Pro3Ser)	LOC130065948, TOMM34 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240627	NM_006809.5(TOMM34):c.642G>C (p.Glu214Asp)	TOMM34 (E214D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209108	NM_006809.5(TOMM34):c.422G>A (p.Arg141His)	TOMM34 (R141H)	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

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Links from Gene

Items: 21