TPMT[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
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 12722	TPMT*3A	TPMT (Y240C +2 more)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 2262150	NM_000367.5(TPMT):c.704T>C (p.Leu235Pro)	TPMT (L235P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492466	NM_000367.5(TPMT):c.690G>C (p.Trp230Cys)	TPMT (W215C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2236396	NM_000367.5(TPMT):c.524G>A (p.Gly175Glu)	TPMT (G175E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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)	TPMT-related condition +1 more	GLikely benign; other
Select item 143913	NM_000367.5(TPMT):c.420-4G>A	TPMT	Single nucleotide variant (intron variant)	TPMT-related condition	GLikely benign
Select item 2339520	NM_000367.5(TPMT):c.412C>T (p.Leu138Phe)	TPMT (L138F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	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 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 356119	NM_000367.5(TPMT):c.210C>T (p.Cys70=)	LOC126859608, TPMT	Single nucleotide variant (synonymous variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 2555793	NM_000367.5(TPMT):c.131A>G (p.Gln44Arg)	TPMT (Q44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462509	NM_000367.5(TPMT):c.129A>T (p.Glu43Asp)	TPMT (E43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 356125	NM_000367.4(TPMT):c.-138delG	LOC129995929, TPMT	Deletion (5 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 3062930	GRCh37/hg19 6p22.3(chr6:18012026-18313034)x1	DEK, KDM1B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1460040	NC_000006.11:g.(?_18121650)_(18149358_?)del	NHLRC1, TPMT	Deletion	Lafora disease	GPathogenic
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253699	GRCh37/hg19 6p22.3(chr6:17637157-18931615)x3	TPMT, NHLRC1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47