7172[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +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)	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 +1 more	GLikely benign
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 143913	NM_000367.5(TPMT):c.420-4G>A	TPMT	Single nucleotide variant (intron variant)	TPMT-related disorder +1 more	GLikely benign; drug response
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 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 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
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 52