ClinVar for MedGen (Select 83352) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356125	NM_000367.4(TPMT):c.-138delG	LOC129995929, TPMT	Deletion (5 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
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 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 356108	NM_000367.5(TPMT):c.*414G>A	TPMT	Single nucleotide variant (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 356089	NM_000367.5(TPMT):c.1778_1781dup	TPMT	Duplication (3 prime UTR variant)	Thiopurine S-methyltransferase deficiency	GUncertain significance
Select item 37126	NM_000367.5(TPMT):c.460G>A (p.Ala154Thr)	TPMT (A154T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign; other
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 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 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 12723	NM_000367.5(TPMT):c.626-1G>A	TPMT	Single nucleotide variant (splice acceptor variant)	Thiopurine S-methyltransferase deficiency	Gdrug response
Select item 12722	TPMT*3A	TPMT (Y240C +2 more)	Single nucleotide variant (missense variant)	Thiopurine S-methyltransferase deficiency	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