"Ambry Genetics"[submitter] AND "TACC1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601040	NM_006283.3(TACC1):c.83G>T (p.Gly28Val)	TACC1 (G28V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205289	NM_006283.3(TACC1):c.127G>T (p.Asp43Tyr)	TACC1 (D43Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481915	NM_006283.3(TACC1):c.139G>A (p.Glu47Lys)	TACC1 (E47K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523741	NM_006283.3(TACC1):c.146A>C (p.Lys49Thr)	TACC1 (K65T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304257	NM_006283.3(TACC1):c.206C>T (p.Pro69Leu)	TACC1 (P33L +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2604528	NM_006283.3(TACC1):c.212G>A (p.Arg71Gln)	TACC1 (R35Q +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2603331	NM_006283.3(TACC1):c.238C>G (p.Pro80Ala)	TACC1 (P35A +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2459094	NM_006283.3(TACC1):c.499G>A (p.Gly167Arg)	TACC1 (G167R +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2378498	NM_006283.3(TACC1):c.635A>G (p.Asp212Gly)	TACC1 (D167G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2528431	NM_006283.3(TACC1):c.649A>G (p.Asn217Asp)	TACC1 (N217D +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596634	NM_006283.3(TACC1):c.681A>C (p.Arg227Ser)	TACC1 (R182S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595649	NM_006283.3(TACC1):c.704C>T (p.Pro235Leu)	TACC1 (P199L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255674	NM_006283.3(TACC1):c.787T>C (p.Ser263Pro)	TACC1 (S235P +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349243	NM_006283.3(TACC1):c.910G>A (p.Asp304Asn)	TACC1 (D276N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2287082	NM_006283.3(TACC1):c.937T>C (p.Ser313Pro)	TACC1 (S329P +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2525712	NM_006283.3(TACC1):c.986G>A (p.Gly329Glu)	TACC1 (G345E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2495486	NM_006283.3(TACC1):c.1009C>G (p.Leu337Val)	TACC1 (L301V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508447	NM_006283.3(TACC1):c.1070G>A (p.Gly357Asp)	TACC1 (G162D +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547393	NM_006283.3(TACC1):c.1118G>A (p.Arg373Gln)	TACC1 (R337Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2386043	NM_006283.3(TACC1):c.1184A>G (p.Asn395Ser)	TACC1 (N367S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522822	NM_006283.3(TACC1):c.1185C>A (p.Asn395Lys)	TACC1 (N350K +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372936	NM_006283.3(TACC1):c.1282C>A (p.Pro428Thr)	TACC1 (P383T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2472101	NM_006283.3(TACC1):c.1342G>A (p.Val448Ile)	TACC1 (V448I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2375640	NM_006283.3(TACC1):c.1372G>A (p.Ala458Thr)	TACC1 (A474T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223641	NM_006283.3(TACC1):c.1375A>G (p.Lys459Glu)	TACC1 (K264E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378999	NM_006283.3(TACC1):c.1387A>G (p.Ile463Val)	TACC1 (I427V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2327797	NM_006283.3(TACC1):c.1439A>T (p.Asp480Val)	TACC1 (D297V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533741	NM_006283.3(TACC1):c.1535C>T (p.Thr512Met)	TACC1 (T102M +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463026	NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)	TACC1 (E112K +11 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2323995	NM_006283.3(TACC1):c.1573G>T (p.Gly525Cys)	TACC1 (G330C +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395487	NM_006283.3(TACC1):c.1742C>T (p.Ala581Val)	TACC1 (A114V +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465332	NM_006283.3(TACC1):c.1784G>A (p.Gly595Glu)	TACC1 (G128E +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318588	NM_006283.3(TACC1):c.1895G>A (p.Arg632Gln)	TACC1 (R222Q +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302673	NM_006283.3(TACC1):c.1945A>G (p.Ile649Val)	TACC1 (I453V +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304074	NM_006283.3(TACC1):c.2014A>G (p.Met672Val)	TACC1 (M245V +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263472	NM_006283.3(TACC1):c.2150A>G (p.Gln717Arg)	TACC1 (Q250R +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456480	NM_006283.3(TACC1):c.2249A>G (p.Gln750Arg)	TACC1 (Q554R +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 37