Related gene-specific medical variations for Gene (Select 6901) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3000153	NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2975863	NM_000116.5(TAFAZZIN):c.110-19A>C	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2963673	NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)	DNASE1L1, LOC130068869 +1 more (P10S)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2854089	NM_000116.5(TAFAZZIN):c.110-20G>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2845333	NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2830373	NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2824806	NM_000116.5(TAFAZZIN):c.110-18C>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2769826	NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)	DNASE1L1, LOC130068869 +1 more (G29R)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2762037	NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2739109	NM_000116.5(TAFAZZIN):c.109+20G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2726425	NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)	DNASE1L1, LOC130068869 +1 more (T18I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2708386	NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2582538	NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)	TAFAZZIN (R186C +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506902	NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)	DNASE1L1, TAFAZZIN	Deletion (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506901	NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)	DNASE1L1, LOC130068869 +1 more (W17*)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506893	NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)	LOC130068869, DNASE1L1 +1 more (L19fs)	Deletion (frameshift variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2436957	NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)	TAFAZZIN (L138V +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2188697	NM_000116.5(TAFAZZIN):c.109+15G>A	DNASE1L1, LOC130068869 +1 more (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2162446	NM_000116.5(TAFAZZIN):c.110-15C>G	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2143046	NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2105462	NM_000116.5(TAFAZZIN):c.109+15del	TAFAZZIN, DNASE1L1 +1 more (A42fs)	Deletion (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2065777	NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)	DNASE1L1, LOC130068869 +1 more (M1V)	Single nucleotide variant (missense variant +3 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2036724	NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)	DNASE1L1, LOC130068869 +1 more (Y31C)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2031230	NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)	DNASE1L1, TAFAZZIN (M39I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2030701	NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2030006	NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)	DNASE1L1, LOC130068869 +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1953002	NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)	TAFAZZIN, DNASE1L1 (Y56C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1938466	NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)	DNASE1L1, LOC130068869 +1 more (F34I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1922236	NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)	DNASE1L1, LOC130068869 +1 more (K6N)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1800452	NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)	LOC130068869, TAFAZZIN +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1800135	NM_000116.5(TAFAZZIN):c.67G>A (p.Val23Ile)	DNASE1L1, LOC130068869 +1 more (V23I)	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1800002	NM_000116.5(TAFAZZIN):c.111G>A (p.Lys37=)	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1799824	NM_000116.5(TAFAZZIN):c.55C>T (p.Leu19=)	TAFAZZIN, DNASE1L1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1799629	NM_000116.5(TAFAZZIN):c.-4G>A	LOC130068869, TAFAZZIN +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1799627	NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)	DNASE1L1, LOC130068869 +1 more (P13S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1712690	NM_000116.5(TAFAZZIN):c.41C>A (p.Pro14Gln)	DNASE1L1, LOC130068869 +1 more (P14Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319559	NM_000116.5(TAFAZZIN):c.18_22dup (p.Pro8fs)	LOC130068869, TAFAZZIN +1 more (P8fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1307995	NM_000116.5(TAFAZZIN):c.110-6C>G	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1294257	NM_001009932.1(DNASE1L1):c.-431+167del	DNASE1L1, TAFAZZIN	Deletion	not provided	GBenign
Select item 1258717	NM_000116.5(TAFAZZIN):c.-19G>C	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1235677	NM_000116.5(TAFAZZIN):c.-52C>T	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1118641	NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)	TAFAZZIN, DNASE1L1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1112361	NM_000116.5(TAFAZZIN):c.109+8G>A	TAFAZZIN, DNASE1L1 +1 more (W39*)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1073013	NM_000116.5(TAFAZZIN):c.109+5G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 956076	NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)	DNASE1L1, LOC130068869 +1 more (T16S)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 913761	NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)	DNASE1L1, LOC130068869 +1 more (W17R)	Single nucleotide variant (5 prime UTR variant +2 more)	Endocardial fibroelastosis +2 more	GUncertain significance
Select item 848014	NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)	TAFAZZIN, DNASE1L1 +1 more (T30I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 840746	NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)	DNASE1L1, LOC130068869 +1 more (F9L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 697651	NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 691831	NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)	DNASE1L1, LOC130068869 +1 more (P10R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 656713	NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)	DNASE1L1, LOC130068869 +1 more (W17C)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 511592	NM_000116.5(TAFAZZIN):c.108C>T (p.Thr36=)	LOC130068869, TAFAZZIN +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 462144	NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 446166	NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter)	TAFAZZIN (Y227* +4 more)	Duplication (nonsense +1 more)	Left ventricular noncompaction	GUncertain significance
Select item 412664	NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)	TAFAZZIN, DNASE1L1	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 389298	NM_000116.5(TAFAZZIN):c.-37C>T	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 381564	NM_000116.5(TAFAZZIN):c.110-6C>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 368086	NM_000116.5(TAFAZZIN):c.-88G>C	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Primary dilated cardiomyopathy +4 more	GBenign/Likely benign
Select item 368085	NM_000116.5(TAZ):c.-119=	DNASE1L1, LOC130068869 +1 more	Deletion (no sequence alteration +2 more)	Endocardial fibroelastosis +3 more	GBenign
Select item 177806	NM_000116.5(TAFAZZIN):c.-17C>T	LOC130068869, TAFAZZIN +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 42260	NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 42253	NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)	TAFAZZIN, DNASE1L1 +1 more (V5L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 42252	NM_000116.5(TAFAZZIN):c.109+28C>T	TAFAZZIN, LOC130068869 +1 more (P46L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 36794	NM_000116.5(TAFAZZIN):c.110-17=	DNASE1L1, TAFAZZIN	Single nucleotide variant (no sequence alteration +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11109	NM_000116.5(TAFAZZIN):c.110-2A>G	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 11106	NM_000116.5(TAFAZZIN):c.109+5G>C	LOC130068869, TAFAZZIN +1 more (E38D)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic

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Items: 66