TAFAZZIN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2119293	NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)	TAFAZZIN (T61S +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1072332	NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)	TAFAZZIN (V44fs +1 more)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1918154	NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	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 2083921	NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	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 2965734	NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
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 2060122	NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)	TAFAZZIN (V49L +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506889	NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)	TAFAZZIN (L50P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1806241	NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)	TAFAZZIN (L50Q +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2112174	NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)	TAFAZZIN (Y51* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 11101	NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	TAFAZZIN (Y51* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2916897	NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)	TAFAZZIN (E70Q +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 431031	NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)	TAFAZZIN (E52K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 202091	NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter)	TAFAZZIN (E52* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2506883	NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)	TAFAZZIN (I54N +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2969551	NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)	TAFAZZIN (I54M +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506903	NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)	TAFAZZIN (E55* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
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 2506914	NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)	TAFAZZIN (G58fs +1 more)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2046380	NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)	TAFAZZIN (A60V +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1967792	NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)	TAFAZZIN (T61M +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1009336	NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)	TAFAZZIN (P62S +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1932565	NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1932934	NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1035879	NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)	TAFAZZIN (I64L +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	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 1027212	NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)	TAFAZZIN (H69N +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 559335	NM_000116.5(TAFAZZIN):c.207C>G (p.His69Gln)	TAFAZZIN (H69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 42254	NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)	TAFAZZIN (Q70* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 1008878	NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)	TAFAZZIN (Q70H +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506906	NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)	TAFAZZIN (S71P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1028075	NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)	TAFAZZIN (S71F +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2580153	NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)	TAFAZZIN (C72F +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 515227	NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2707433	NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)	TAFAZZIN (D74E +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506908	NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)	TAFAZZIN (D74E +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 950993	NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)	TAFAZZIN (P94L +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 237009	NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)	TAFAZZIN (P76R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2055398	NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 202099	NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)	TAFAZZIN (H77R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GConflicting classifications of pathogenicity
Select item 389949	NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign
Select item 2729978	NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)	TAFAZZIN (L78H +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506921	NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)	TAFAZZIN (W79* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GPathogenic
Select item 1966105	NM_000116.5(TAFAZZIN):c.238+1del	TAFAZZIN	Deletion (splice donor variant)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 842542	NM_000116.5(TAFAZZIN):c.236_238+5del	TAFAZZIN	Deletion (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 661106	NM_000116.5(TAFAZZIN):c.238+2_238+9del	TAFAZZIN	Deletion (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 807698	NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)	TAFAZZIN (G98R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 531184	NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)	TAFAZZIN (G80R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 2506922	NM_000116.5(TAFAZZIN):c.238+2T>G	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 1305791	NM_000116.5(TAFAZZIN):c.238+5C>T	TAFAZZIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 660945	NM_000116.5(TAFAZZIN):c.238+6C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2165119	NM_000116.5(TAFAZZIN):c.238+7G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2821860	NM_000116.5(TAFAZZIN):c.238+9G>C	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2798416	NM_000116.5(TAFAZZIN):c.238+10C>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 680097	NM_000116.5(TAFAZZIN):c.238+11C>G	TAFAZZIN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2754794	NM_000116.5(TAFAZZIN):c.239-19A>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2030257	NM_000116.5(TAFAZZIN):c.239-18G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2414373	NM_000116.5(TAFAZZIN):c.239-17C>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1966433	NM_000116.5(TAFAZZIN):c.239-17C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1984009	NM_000116.5(TAFAZZIN):c.239-11C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1160147	NM_000116.5(TAFAZZIN):c.239-7C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 420438	NM_000116.5(TAFAZZIN):c.239-6del	TAFAZZIN	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 2899209	NM_000116.5(TAFAZZIN):c.239-6C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 11102	NM_000116.5(TAFAZZIN):c.239-1G>C	TAFAZZIN	Single nucleotide variant (splice acceptor variant)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 11100	NM_000116.5(TAFAZZIN):c.239-1G>A	TAFAZZIN	Single nucleotide variant (splice acceptor variant)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 2506913	NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)	TAFAZZIN (L100P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 807867	NM_000116.5(TAFAZZIN):c.249A>G (p.Lys83=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918613	NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)	TAFAZZIN (L102F +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2768234	NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 835434	NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)	TAFAZZIN (R103C +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1285032	NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)	TAFAZZIN (R103H +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2765653	NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	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 914160	NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2763074	NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	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 2506909	NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)	TAFAZZIN (R112G +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 202092	NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)	TAFAZZIN (R94C +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GPathogenic/Likely pathogenic
Select item 11110	NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)	TAFAZZIN (R94S +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1202910	NM_000116.5(TAFAZZIN):c.281G>C (p.Arg94Pro)	TAFAZZIN (R112P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 653322	NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	TAFAZZIN (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 403954	NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)	TAFAZZIN (R94L +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 2731745	NM_000116.5(TAFAZZIN):c.284+8_284+10del	TAFAZZIN	Microsatellite (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 596123	NM_000116.5(TAFAZZIN):c.284+3G>C	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 664892	NM_000116.5(TAFAZZIN):c.284+4A>T	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1937688	NM_000116.5(TAFAZZIN):c.284+5G>A	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GConflicting classifications of pathogenicity
Select item 2713909	NM_000116.5(TAFAZZIN):c.284+17C>T	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2661806	NM_000116.5(TAFAZZIN):c.284+28G>A	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1297747	NM_000116.5(TAFAZZIN):c.284+30C>T	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2661807	NM_000116.5(TAFAZZIN):c.284+36C>T	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 11107	NM_000116.5(TAFAZZIN):c.284+110G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 2020663	NM_000116.5(TAFAZZIN):c.285-14C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2770084	NM_000116.5(TAFAZZIN):c.285-5C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2506898	NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)	TAFAZZIN (W113* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 1075571	NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)	TAFAZZIN	Insertion (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic

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