Related gene-specific medical variations for Gene (Select 10607) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300566	NM_172167.3(NOXO1):c.181G>A (p.Gly61Ser)	NOXO1, TBL3 (G61S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300563	NM_172167.3(NOXO1):c.490C>T (p.Arg164Cys)	NOXO1, TBL3 (R163C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300562	NM_172167.3(NOXO1):c.529A>G (p.Arg177Gly)	NOXO1, TBL3 (R177G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300561	NM_172167.3(NOXO1):c.325G>T (p.Val109Leu)	NOXO1, TBL3 (V114L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300560	NM_172167.3(NOXO1):c.724G>A (p.Ala242Thr)	NOXO1, TBL3 (A242T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201480	NM_172167.3(NOXO1):c.971C>T (p.Pro324Leu)	NOXO1, TBL3 (P323L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201479	NM_172167.3(NOXO1):c.920C>T (p.Ala307Val)	NOXO1, TBL3 (A306V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201478	NM_172167.3(NOXO1):c.773G>A (p.Arg258His)	NOXO1, TBL3 (R257H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201477	NM_172167.3(NOXO1):c.746A>T (p.Asp249Val)	NOXO1, TBL3 (D249V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201476	NM_172167.3(NOXO1):c.722G>A (p.Arg241His)	NOXO1, TBL3 (R241H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201475	NM_172167.3(NOXO1):c.712T>A (p.Cys238Ser)	NOXO1, TBL3 (C238S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201474	NM_172167.3(NOXO1):c.551A>T (p.Gln184Leu)	NOXO1, TBL3 (Q184L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201473	NM_172167.3(NOXO1):c.512C>A (p.Thr171Asn)	NOXO1, TBL3 (T170N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201472	NM_172167.3(NOXO1):c.508T>G (p.Cys170Gly)	NOXO1, TBL3 (C170G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201471	NM_172167.3(NOXO1):c.406G>T (p.Val136Leu)	NOXO1, TBL3 (V141L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201470	NM_172167.3(NOXO1):c.402C>G (p.Ser134Arg)	NOXO1, TBL3 (S133R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201469	NM_172167.3(NOXO1):c.1004T>C (p.Ile335Thr)	NOXO1, TBL3 (I334T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2681440	NM_172167.3(NOXO1):c.786G>A (p.Leu262=)	NOXO1, TBL3	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2645960	NM_172167.3(NOXO1):c.116G>A (p.Arg39His)	NOXO1, TBL3 (R39H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2596966	NM_172167.3(NOXO1):c.340A>G (p.Thr114Ala)	NOXO1, TBL3 (T113A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2557198	NM_172167.3(NOXO1):c.425A>G (p.Glu142Gly)	NOXO1, TBL3 (E142G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546966	NM_172167.3(NOXO1):c.769G>A (p.Ala257Thr)	NOXO1, TBL3 (A262T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545821	NM_172167.3(NOXO1):c.205G>A (p.Val69Ile)	NOXO1, TBL3 (V69I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523262	NM_172167.3(NOXO1):c.1040T>G (p.Leu347Arg)	NOXO1, TBL3 (L351R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520154	NM_172167.3(NOXO1):c.623C>T (p.Ala208Val)	NOXO1, TBL3 (A208V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519169	NM_172167.3(NOXO1):c.613C>T (p.Arg205Trp)	NOXO1, TBL3 (R210W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491144	NM_172167.3(NOXO1):c.154C>A (p.Leu52Ile)	NOXO1, TBL3 (L52I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488358	NM_172167.3(NOXO1):c.913G>A (p.Asp305Asn)	NOXO1, TBL3 (D304N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2470730	NM_172167.3(NOXO1):c.1064G>A (p.Gly355Asp)	NOXO1, TBL3 (G354D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469823	NM_172167.3(NOXO1):c.1024G>A (p.Val342Ile)	NOXO1, TBL3 (V342I +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2399612	NM_172167.3(NOXO1):c.419C>T (p.Thr140Ile)	NOXO1, TBL3 (T139I +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394266	NM_172167.3(NOXO1):c.141G>C (p.Gln47His)	NOXO1, TBL3 (Q47H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388129	NM_172167.3(NOXO1):c.653C>A (p.Ala218Glu)	NOXO1, TBL3 (A218E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2384251	NM_172167.3(NOXO1):c.671G>T (p.Arg224Leu)	NOXO1, TBL3 (R223L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358235	NM_172167.3(NOXO1):c.354C>A (p.Phe118Leu)	NOXO1, TBL3 (F117L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355614	NM_172167.3(NOXO1):c.1058G>A (p.Arg353His)	NOXO1, TBL3 (R352H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331669	NM_172167.3(NOXO1):c.781G>C (p.Val261Leu)	NOXO1, TBL3 (V260L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305707	NM_172167.3(NOXO1):c.254C>T (p.Thr85Met)	NOXO1, TBL3 (T84M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304753	NM_172167.3(NOXO1):c.989C>A (p.Pro330His)	NOXO1, TBL3 (P334H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304443	NM_172167.3(NOXO1):c.57G>C (p.Lys19Asn)	NOXO1, TBL3 (K19N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299186	NM_172167.3(NOXO1):c.971C>G (p.Pro324Arg)	NOXO1, TBL3 (P324R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285700	NM_172167.3(NOXO1):c.82G>A (p.Val28Met)	NOXO1, TBL3 (V28M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284487	NM_172167.3(NOXO1):c.265C>A (p.Leu89Met)	NOXO1, TBL3 (L88M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283586	NM_172167.3(NOXO1):c.397G>A (p.Gly133Ser)	NOXO1, TBL3 (G138S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279352	NM_172167.3(NOXO1):c.427G>C (p.Glu143Gln)	NOXO1, TBL3 (E143Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278895	NM_006453.3(TBL3):c.13G>T (p.Ala5Ser)	LOC130058200, TBL3 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267232	NM_172167.3(NOXO1):c.562G>C (p.Asp188His)	NOXO1, TBL3 (D188H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253181	NM_172167.3(NOXO1):c.1078T>G (p.Cys360Gly)	NOXO1, TBL3 (C359G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2226029	NM_172167.3(NOXO1):c.877G>A (p.Ala293Thr)	NOXO1, TBL3 (A292T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 49