TPMT[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356089	NM_000367.5(TPMT):c.1778_1781dup	TPMT	Duplication (3 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 356102	NM_000367.5(TPMT):c.899_902del	TPMT	Deletion (3 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 356108	NM_000367.5(TPMT):c.*414G>A	TPMT	Single nucleotide variant (3 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 12725	NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys)	TPMT (Y240C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign; other
Select item 2262150	NM_000367.5(TPMT):c.704T>C (p.Leu235Pro)	TPMT (L235P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492466	NM_000367.5(TPMT):c.690G>C (p.Trp230Cys)	TPMT (W215C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92243	NM_000367.5(TPMT):c.648T>A (p.Cys216Ter)	TPMT (C216* +1 more)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 12726	NM_000367.5(TPMT):c.644G>A (p.Arg215His)	TPMT (R215H +1 more)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 12723	NM_000367.5(TPMT):c.626-1G>A	TPMT	Single nucleotide variant (splice acceptor variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 3328295	NM_000367.5(TPMT):c.577C>T (p.Pro193Ser)	TPMT (P193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236396	NM_000367.5(TPMT):c.524G>A (p.Gly175Glu)	TPMT (G175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12727	NM_000367.5(TPMT):c.500C>G (p.Ala167Gly)	TPMT (A167G)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 3328294	NM_000367.5(TPMT):c.499G>A (p.Ala167Thr)	TPMT (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625175	NM_000367.5(TPMT):c.497A>G (p.Tyr166Cys)	TPMT (Y166C)	Single nucleotide variant (missense variant)	Thiopurine response	Gdrug response
Select item 356114	NM_000367.5(TPMT):c.474C>T (p.Ile158=)	TPMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 37126	NM_000367.5(TPMT):c.460G>A (p.Ala154Thr)	TPMT (A154T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign; other
Select item 143913	NM_000367.5(TPMT):c.420-4G>A	TPMT	Single nucleotide variant (intron variant)	TPMT-related disorder	GLikely benign
Select item 2339520	NM_000367.5(TPMT):c.412C>T (p.Leu138Phe)	TPMT (L138F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656263	NM_000367.5(TPMT):c.390G>A (p.Leu130=)	TPMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048487	NM_000367.5(TPMT):c.375G>A (p.Ser125=)	TPMT	Single nucleotide variant (synonymous variant)	TPMT-related disorder	GLikely benign
Select item 356117	NM_000367.5(TPMT):c.335T>A (p.Ile112Asn)	TPMT (I112N)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 2656264	NM_000367.5(TPMT):c.309G>A (p.Gln103=)	TPMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181551	NM_000367.5(TPMT):c.294A>C (p.Glu98Asp)	TPMT (E98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625174	NM_000367.5(TPMT):c.262G>A (p.Gly88Ser)	TPMT (G88S)	Single nucleotide variant (missense variant)	Thiopurine response	Gdrug response
Select item 12721	NM_000367.2(TPMT):c.238G>C (p.Ala80Pro)	TPMT (A80P)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 625173	NM_000367.5(TPMT):c.234G>T (p.Trp78Cys)	TPMT (W78C)	Single nucleotide variant (missense variant)	Thiopurine response	Gdrug response
Select item 3181550	NM_000367.5(TPMT):c.133G>A (p.Gly45Arg)	TPMT (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555793	NM_000367.5(TPMT):c.131A>G (p.Gln44Arg)	TPMT (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462509	NM_000367.5(TPMT):c.129A>T (p.Glu43Asp)	TPMT (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625172	NM_000367.5(TPMT):c.95dup (p.Trp33fs)	TPMT (W33fs)	Duplication (frameshift variant)	Thiopurine response	Gdrug response
Select item 2547397	NM_000367.5(TPMT):c.58A>G (p.Lys20Glu)	TPMT (K20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181552	NM_000367.5(TPMT):c.41C>T (p.Ser14Leu)	TPMT (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32