ClinVar for MedGen (Select 107893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244019	NC_000023.10:g.(?_153640181)_(153642547_?)dup	DNASE1L1, TAFAZZIN	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3023589	NM_000116.5(TAFAZZIN):c.777+20C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 3014380	NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)	TAFAZZIN (T105I +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2983371	NM_000116.5(TAFAZZIN):c.778-8del	TAFAZZIN	Deletion (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2980391	NM_000116.5(TAFAZZIN):c.646+20C>G	TAFAZZIN	Single nucleotide variant (intron variant)	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 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 2973307	NM_000116.5(TAFAZZIN):c.646+18G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2971114	NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)	TAFAZZIN (P246L +5 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 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 2964618	NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)	TAFAZZIN (N150Y +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2955481	NM_000116.5(TAFAZZIN):c.541+13G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
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 2900673	NM_000116.5(TAFAZZIN):c.777+19C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2899746	NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)	TAFAZZIN (D161N +3 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
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 2895712	NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)	TAFAZZIN (L205I +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2883575	NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)	TAFAZZIN (L108I +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2880584	NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2877852	NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)	TAFAZZIN (A229V +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2871972	NM_000116.5(TAFAZZIN):c.646+13A>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2871971	NM_000116.5(TAFAZZIN):c.646+12del	TAFAZZIN	Deletion (intron variant)	3-Methylglutaconic aciduria type 2	GBenign
Select item 2870076	NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)	TAFAZZIN (F216L +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2864471	NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2860305	NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
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 2852688	NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)	TAFAZZIN (G151E +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2847748	NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)	TAFAZZIN (R141P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2844626	NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)	TAFAZZIN	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2844313	NM_000116.5(TAFAZZIN):c.370+16A>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2835026	NM_000116.5(TAFAZZIN):c.699+6T>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2830373	NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)	LOC130068869, TAFAZZIN +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 (intron variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2807886	NM_000116.5(TAFAZZIN):c.584-15C>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2805209	NM_000116.5(TAFAZZIN):c.700-19C>G	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2803269	NM_000116.5(TAFAZZIN):c.778-6C>A	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 2794192	NM_000116.5(TAFAZZIN):c.700-13G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2790557	NM_000116.5(TAFAZZIN):c.699+17G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2787980	NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2787894	NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2781878	NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2771268	NM_000116.5(TAFAZZIN):c.541+13_541+28del	TAFAZZIN	Deletion (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 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 +1 more	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 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 2763218	NM_000116.5(TAFAZZIN):c.370+11C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
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 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 2760683	NM_000116.5(TAFAZZIN):c.700-1del	TAFAZZIN	Deletion (splice acceptor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2760449	NM_000116.5(TAFAZZIN):c.584-11C>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2757162	NM_000116.5(TAFAZZIN):c.461-22_461-14del	TAFAZZIN	Deletion (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
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 2756444	NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)	TAFAZZIN (K181M +2 more)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 2745259	NM_000116.5(TAFAZZIN):c.700-14C>T	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2744939	NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 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 2737444	NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)	TAFAZZIN (E176* +2 more)	Single nucleotide variant (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic
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 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 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 2725294	NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2719934	NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2716367	NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)	TAFAZZIN (T249I +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 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 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 2699805	NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2692750	NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)	TAFAZZIN (C159Y +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 2690921	NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)	TAFAZZIN (I191M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2683795	NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 2506923	NM_000116.5(TAFAZZIN):c.583+5G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 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 2506920	NM_000116.5(TAFAZZIN):c.699+1G>T	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
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 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 2506912	NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)	TAFAZZIN (E206fs +5 more)	Insertion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506910	NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)	TAFAZZIN (D101V +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
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 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 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 2506905	NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)	TAFAZZIN	Indel (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506904	NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)	TAFAZZIN (C159* +5 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
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 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)	TAFAZZIN, DNASE1L1 +1 more (W17*)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506900	NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)	TAFAZZIN (E206* +5 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic

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