"Ambry Genetics"[submitter] AND "TAFAZZIN"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1799629	NM_000116.5(TAFAZZIN):c.-4G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 42253	NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)	DNASE1L1, LOC130068869 +1 more (V5L)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +3 more	GUncertain significance
Select item 840746	NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)	TAFAZZIN, DNASE1L1 +1 more (F9L)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	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 42260	NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)	TAFAZZIN, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	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 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 462144	NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
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)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 1800452	NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
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 1799826	NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3230336	NM_000116.5(TAFAZZIN):c.135C>T (p.His45=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2564197	NM_000116.5(TAFAZZIN):c.136A>T (p.Asn46Tyr)	TAFAZZIN (N64Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1799809	NM_000116.5(TAFAZZIN):c.142G>A (p.Glu48Lys)	TAFAZZIN (E48K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 518893	NM_000116.5(TAFAZZIN):c.145del (p.Val49fs)	TAFAZZIN (V67fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3324310	NM_000116.5(TAFAZZIN):c.166A>G (p.Lys56Glu)	TAFAZZIN (K74E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1090331	NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2974740	NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2158924	NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1800244	NM_000116.5(TAFAZZIN):c.274T>C (p.Leu92=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 568764	NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)	TAFAZZIN (A100V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 387263	NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 165328	NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)	TAFAZZIN (H111Y +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1799618	NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)	TAFAZZIN (G124R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2756477	NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)	TAFAZZIN (G124E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 42259	NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)	TAFAZZIN (F128S +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +6 more	GBenign/Likely benign
Select item 2449429	NM_000116.5(TAFAZZIN):c.412C>T (p.Leu138=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 237010	NM_000116.5(TAFAZZIN):c.460+1G>A	TAFAZZIN	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GUncertain significance
Select item 701179	NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1104229	NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 644011	NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)	TAFAZZIN (V157I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1800451	NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs)	TAFAZZIN (F134fs +2 more)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 2560626	NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 1799852	NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518567	NM_000116.5(TAFAZZIN):c.541+3C>G	TAFAZZIN	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1800048	NM_000116.5(TAFAZZIN):c.542-3C>T	TAFAZZIN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 531186	NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)	TAFAZZIN	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 3324311	NM_000116.5(TAFAZZIN):c.560C>T (p.Ser187Phe)	TAFAZZIN (S157F +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 647988	NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)	TAFAZZIN (E158K +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 696726	NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)	TAFAZZIN	Single nucleotide variant (intron variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 2564196	NM_000116.5(TAFAZZIN):c.571C>T (p.Arg191Cys)	TAFAZZIN (R191C +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1799623	NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1108295	NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1800112	NM_000116.5(TAFAZZIN):c.613C>T (p.Leu205Phe)	TAFAZZIN (L161F +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 531188	NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1799612	NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 177789	NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1800193	NM_000116.5(TAFAZZIN):c.660C>A (p.Val220=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 412663	NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 202094	NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)	TAFAZZIN (P225L +4 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +2 more	GUncertain significance
Select item 368088	NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +7 more	GBenign/Likely benign
Select item 2162039	NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 2626100	NM_000116.5(TAFAZZIN):c.689G>T (p.Arg230Leu)	TAFAZZIN (R216L +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3324312	NM_000116.5(TAFAZZIN):c.726C>T (p.Pro242=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 701511	NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518417	NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 451312	NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)	TAFAZZIN (A254V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 512063	NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 202096	NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)	TAFAZZIN (E255K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 462146	NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)	TAFAZZIN (N256K +4 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 202097	NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)	TAFAZZIN (V260G +4 more)	Single nucleotide variant (missense variant +1 more)	TAFAZZIN-related disorder +3 more	GUncertain significance
Select item 3230338	NM_000116.5(TAFAZZIN):c.781G>A (p.Glu261Lys)	TAFAZZIN (E217K +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 518678	NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)	TAFAZZIN (T267M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1960429	NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 42270	NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +6 more	GBenign/Likely benign

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Items: 66