TOX2[gene] - ClinVar

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Items: 42

	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 2346228	NM_001098797.2(TOX2):c.19C>T (p.Pro7Ser)	TOX2 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181351	NM_001098797.2(TOX2):c.25G>T (p.Ala9Ser)	TOX2 (A9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250067	NM_001098797.2(TOX2):c.101T>C (p.Phe34Ser)	TOX2 (F34S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377553	NM_001098797.2(TOX2):c.112A>G (p.Ser38Gly)	TOX2 (S47G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3181350	NM_001098797.2(TOX2):c.157A>G (p.Thr53Ala)	TOX2 (T53A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221736	NM_001098797.2(TOX2):c.233C>T (p.Pro78Leu)	TOX2 (P87L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518291	NM_001098797.2(TOX2):c.307G>A (p.Gly103Ser)	TOX2 (G61S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276291	NM_001098797.2(TOX2):c.386A>G (p.His129Arg)	TOX2 (H129R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221452	NM_001098797.2(TOX2):c.409A>G (p.Thr137Ala)	TOX2 (T95A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769471	NM_001098797.2(TOX2):c.421A>G (p.Met141Val)	TOX2 (M150V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3181352	NM_001098797.2(TOX2):c.529A>T (p.Ile177Phe)	TOX2 (I177F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230976	NM_001098797.2(TOX2):c.540G>A (p.Met180Ile)	TOX2 (M138I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273539	NM_001098797.2(TOX2):c.544A>G (p.Ile182Val)	TOX2 (I191V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484949	NM_001098797.2(TOX2):c.547C>T (p.Arg183Trp)	TOX2 (R192W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181353	NM_001098797.2(TOX2):c.548G>A (p.Arg183Gln)	TOX2 (R141Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328134	NM_001098797.2(TOX2):c.635C>T (p.Ser212Leu)	TOX2 (S170L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181354	NM_001098797.2(TOX2):c.656C>T (p.Ser219Leu)	TOX2 (S177L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560301	NM_001098797.2(TOX2):c.666G>T (p.Lys222Asn)	TOX2 (K180N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391666	NM_001098797.2(TOX2):c.670C>T (p.Pro224Ser)	TOX2 (P233S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294137	NM_001098797.2(TOX2):c.710A>G (p.Lys237Arg)	TOX2 (K195R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475292	NM_001098797.2(TOX2):c.826G>A (p.Val276Met)	TOX2 (V276M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520694	NM_001098797.2(TOX2):c.1045A>C (p.Met349Leu)	TOX2 (M349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334627	NM_001098797.2(TOX2):c.1046T>C (p.Met349Thr)	TOX2 (M331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181348	NM_001098797.2(TOX2):c.1073C>T (p.Pro358Leu)	TOX2 (P316L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599397	NM_001098797.2(TOX2):c.1123C>T (p.Arg375Trp)	TOX2 (R333W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181349	NM_001098797.2(TOX2):c.1139A>T (p.Lys380Met)	TOX2 (K338M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211876	NM_001098797.2(TOX2):c.1175C>T (p.Pro392Leu)	TOX2 (P350L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535602	NM_001098797.2(TOX2):c.1190C>T (p.Pro397Leu)	TOX2 (P355L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368199	NM_001098797.2(TOX2):c.1228C>T (p.Pro410Ser)	TOX2 (P410S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269144	NM_001098797.2(TOX2):c.1255C>A (p.Pro419Thr)	TOX2 (P401T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328135	NM_001098797.2(TOX2):c.1336C>T (p.Pro446Ser)	TOX2 (P428S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406506	NM_001098797.2(TOX2):c.1427G>T (p.Ser476Ile)	TOX2 (S458I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257621	NM_001098797.2(TOX2):c.1429A>C (p.Ser477Arg)	TOX2 (S477R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328133	NM_001098797.2(TOX2):c.1465T>C (p.Cys489Arg)	TOX2 (C489R +2 more)	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 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 685392	GRCh37/hg19 20q13.12(chr20:42618072-42803057)x3	JPH2, TOX2	Copy number gain	not provided	GUncertain significance
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: 42