"Ambry Genetics"[submitter] AND "TOX"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246961	NM_014729.3(TOX):c.1553A>G (p.Gln518Arg)	TOX (Q518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181340	NM_014729.3(TOX):c.1505C>G (p.Pro502Arg)	LOC121331303, TOX (P502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269949	NM_014729.3(TOX):c.1505C>A (p.Pro502Gln)	LOC121331303, TOX (P502Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181339	NM_014729.3(TOX):c.1502C>T (p.Pro501Leu)	LOC121331303, TOX (P501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181338	NM_014729.3(TOX):c.1460C>G (p.Thr487Ser)	LOC121331303, TOX (T487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308041	NM_014729.3(TOX):c.1289A>T (p.His430Leu)	TOX (H430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391402	NM_014729.3(TOX):c.1284C>A (p.His428Gln)	TOX (H428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377182	NM_014729.3(TOX):c.1207C>A (p.Gln403Lys)	TOX (Q403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458017	NM_014729.3(TOX):c.1199C>T (p.Pro400Leu)	TOX (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181337	NM_014729.3(TOX):c.1166A>G (p.His389Arg)	TOX (H389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397000	NM_014729.3(TOX):c.1142T>C (p.Met381Thr)	TOX (M381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181336	NM_014729.3(TOX):c.1136C>T (p.Pro379Leu)	TOX (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328131	NM_014729.3(TOX):c.1127A>G (p.His376Arg)	TOX (H376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343691	NM_014729.3(TOX):c.1100C>T (p.Ser367Leu)	TOX (S367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328130	NM_014729.3(TOX):c.1067C>T (p.Pro356Leu)	TOX (P356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271806	NM_014729.3(TOX):c.1027G>A (p.Val343Met)	TOX (V343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328132	NM_014729.3(TOX):c.715C>T (p.Pro239Ser)	TOX (P239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181344	NM_014729.3(TOX):c.527A>G (p.His176Arg)	TOX (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272224	NM_014729.3(TOX):c.522G>A (p.Met174Ile)	TOX (M174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181343	NM_014729.3(TOX):c.311G>A (p.Gly104Asp)	TOX (G104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181342	NM_014729.3(TOX):c.271T>C (p.Ser91Pro)	TOX (S91P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181341	NM_014729.3(TOX):c.230C>T (p.Ser77Phe)	TOX (S77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462015	NM_014729.3(TOX):c.152A>G (p.Tyr51Cys)	TOX (Y51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475490	NM_014729.3(TOX):c.125T>C (p.Met42Thr)	TOX (M42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181345	NM_014729.3(TOX):c.73C>G (p.Pro25Ala)	TOX (P25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181347	NM_014729.3(TOX):c.7G>C (p.Val3Leu)	TOX (V3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181346	NM_014729.3(TOX):c.7G>A (p.Val3Ile)	TOX (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282007	NM_014729.3(TOX):c.5A>C (p.Asp2Ala)	TOX (D2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28