ClinVar for MedGen (Select 107893) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069231.	NM_000116.5(TAFAZZIN):c.583+5G>A GRCh37: ChrX:153648090 GRCh38: ChrX:154419751	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 13, 2020)	criteria provided, single submitter
Select item 25069222.	NM_000116.5(TAFAZZIN):c.238+2T>G GRCh37: ChrX:153640553 GRCh38: ChrX:154412216	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Apr 18, 2023)	criteria provided, single submitter
Select item 25069213.	NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter) GRCh37: ChrX:153640549 GRCh38: ChrX:154412212	TAFAZZIN	W79, W97	3-Methylglutaconic aciduria type 2	Pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 25069204.	NM_000116.5(TAFAZZIN):c.699+1G>T GRCh37: ChrX:153648604 GRCh38: ChrX:154420265	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Jul 23, 2020)	criteria provided, single submitter
Select item 25069145.	NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs) GRCh37: ChrX:153640484 GRCh38: ChrX:154412147	TAFAZZIN	G58fs, G76fs	3-Methylglutaconic aciduria type 2	Likely pathogenic (Apr 26, 2021)	criteria provided, single submitter
Select item 25069136.	NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro) GRCh37: ChrX:153641550 GRCh38: ChrX:154413213	TAFAZZIN	L100P, L82P	3-Methylglutaconic aciduria type 2	Uncertain significance (Apr 26, 2021)	criteria provided, single submitter
Select item 25069127.	NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs) GRCh37: ChrX:153649043-153649044 GRCh38: ChrX:154420704-154420705	TAFAZZIN	E206fs, E220fs, E236fs, E238fs, E250fs, E254fs	3-Methylglutaconic aciduria type 2	Likely pathogenic (Apr 26, 2021)	criteria provided, single submitter
Select item 25069108.	NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val) GRCh37: ChrX:153641836 GRCh38: ChrX:154413499	TAFAZZIN	D101V, D119V	3-Methylglutaconic aciduria type 2	Uncertain significance (Apr 26, 2021)	criteria provided, single submitter
Select item 25069099.	NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly) GRCh37: ChrX:153641585 GRCh38: ChrX:154413248	TAFAZZIN	R112G, R94G	3-Methylglutaconic aciduria type 2	Likely pathogenic (Jul 8, 2020)	criteria provided, single submitter
Select item 250690810.	NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu) GRCh37: ChrX:153640535 GRCh38: ChrX:154412198	TAFAZZIN	D74E, D92E	3-Methylglutaconic aciduria type 2	Likely pathogenic (Sep 8, 2020)	criteria provided, single submitter
Select item 250690611.	NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro) GRCh37: ChrX:153640524 GRCh38: ChrX:154412187	TAFAZZIN	S71P, S89P	3-Methylglutaconic aciduria type 2	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 250690512.	NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer) GRCh37: ChrX:153641828 GRCh38: ChrX:154413491	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 14, 2020)	criteria provided, single submitter
Select item 250690413.	NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter) GRCh37: ChrX:153648396 GRCh38: ChrX:154420057	TAFAZZIN	C159, C173, C189, C191, C203, C207	3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 7, 2020)	criteria provided, single submitter
Select item 250690314.	NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter) GRCh37: ChrX:153640476 GRCh38: ChrX:154412139	TAFAZZIN	E55, E73	3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 7, 2020)	criteria provided, single submitter
Select item 250690215.	NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer) GRCh37: ChrX:153640436 GRCh38: ChrX:154412099	DNASE1L1, TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 7, 2020)	criteria provided, single submitter
Select item 250690116.	NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter) GRCh37: ChrX:153640231 GRCh38: ChrX:154411894	DNASE1L1, TAFAZZIN	W17*	3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 13, 2020)	criteria provided, single submitter
Select item 250690017.	NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter) GRCh37: ChrX:153649045 GRCh38: ChrX:154420706	TAFAZZIN	E206, E220, E236, E238, E250, E254	3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 14, 2020)	criteria provided, single submitter
Select item 250689818.	NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter) GRCh37: ChrX:153641819 GRCh38: ChrX:154413482	TAFAZZIN	W113, W95	3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 24, 2020)	criteria provided, single submitter
Select item 250689719.	NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg) GRCh37: ChrX:153647902 GRCh38: ChrX:154419563	TAFAZZIN	G131R, G149R, G161R, G179R	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 24, 2020)	criteria provided, single submitter
Select item 250689620.	NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser) GRCh37: ChrX:153647954 GRCh38: ChrX:154419615	TAFAZZIN	F148S, F166S, F178S, F196S	3-Methylglutaconic aciduria type 2	Uncertain significance (Jun 24, 2020)	criteria provided, single submitter
Select item 250689521.	NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn) GRCh37: ChrX:153648413 GRCh38: ChrX:154420074	TAFAZZIN	I165N, I179N, I195N, I197N, I209N, I213N	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 6, 2020)	criteria provided, single submitter
Select item 250689422.	NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs) GRCh37: ChrX:153649330-153649331 GRCh38: ChrX:154420991-154420992	TAFAZZIN	R248fs, R262fs, R278fs, R280fs, R292fs, R296fs	3-Methylglutaconic aciduria type 2	Pathogenic (Aug 7, 2020)	criteria provided, single submitter
Select item 250689323.	NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs) GRCh37: ChrX:153640233-153640234 GRCh38: ChrX:154411896-154411897	DNASE1L1, TAFAZZIN	L19fs	3-Methylglutaconic aciduria type 2	Likely pathogenic (Jul 9, 2020)	criteria provided, single submitter
Select item 250689224.	NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val) GRCh37: ChrX:153641844 GRCh38: ChrX:154413507	TAFAZZIN	F104V, F122V	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 5, 2020)	criteria provided, single submitter
Select item 250689125.	NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter) GRCh37: ChrX:153647918 GRCh38: ChrX:154419579	TAFAZZIN	L136, L154, L166, L184	3-Methylglutaconic aciduria type 2	Pathogenic (Aug 5, 2020)	criteria provided, single submitter
Select item 250689026.	NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del) GRCh37: ChrX:153641859-153641864 GRCh38: ChrX:154413522-154413527	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 250688927.	NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro) GRCh37: ChrX:153640462 GRCh38: ChrX:154412125	TAFAZZIN	L50P, L68P	3-Methylglutaconic aciduria type 2	Uncertain significance (Jun 24, 2020)	criteria provided, single submitter
Select item 250688828.	NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro) GRCh37: ChrX:153648422 GRCh38: ChrX:154420083	TAFAZZIN	L168P, L182P, L198P, L200P, L212P, L216P	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 11, 2020)	criteria provided, single submitter
Select item 250688729.	NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs) GRCh37: ChrX:153648996-153648997 GRCh38: ChrX:154420657-154420658	TAFAZZIN	I191fs, I205fs, I221fs, I223fs, I235fs, I239fs	3-Methylglutaconic aciduria type 2	Pathogenic (Jul 24, 2020)	criteria provided, single submitter
Select item 250688630.	NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg) GRCh37: ChrX:153641904 GRCh38: ChrX:154413567	TAFAZZIN	G124R, G142R	3-Methylglutaconic aciduria type 2	Likely pathogenic (Jul 24, 2020)	criteria provided, single submitter
Select item 250688531.	NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu) GRCh37: ChrX:153641883 GRCh38: ChrX:154413546	TAFAZZIN	K117E, K135E	3-Methylglutaconic aciduria type 2	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 250688332.	NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn) GRCh37: ChrX:153640474 GRCh38: ChrX:154412137	TAFAZZIN	I54N, I72N	3-Methylglutaconic aciduria type 2	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 250688233.	NM_000116.5(TAFAZZIN):c.541+1G>T GRCh37: ChrX:153647963 GRCh38: ChrX:154419624	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Aug 4, 2020)	criteria provided, single submitter
Select item 243695734.	NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val) GRCh37: ChrX:153642479 GRCh38: ChrX:154414142	TAFAZZIN	L138V, L156V	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 6, 2019)	criteria provided, single submitter
Select item 242237035.	NC_000023.10:g.(?_153641545)_(153648084_?)dup GRCh37: ChrX:153641545-153648084	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 242236936.	NC_000023.10:g.(?_153647862)_(153649343_?)dup GRCh37: ChrX:153647862-153649343	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 242236837.	NC_000023.10:g.(?_153640181)_(153775961_?)dup GRCh37: ChrX:153640181-153775961	ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A		not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, 3-Methylglutaconic aciduria type 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 242215738.	NC_000023.10:g.(?_152014869)_(155171615_?)del GRCh37: ChrX:152014869-155171615	FAM3A, H2AB3, OPN1MW2, HCFC1, CTAG2, SLC10A3, FLNA, ZNF275, PLXNA3, BRCC3, CMC4, HAUS7, UBL4A, TMEM187, FAM50A, CCNQ, BGN, IRAK1, CLIC2, F8, TMLHE, TAFAZZIN, ZFP92, NAA10, MECP2, SSR4, RPL10, FUNDC2, PNMA6A, SLC6A8, LOC100509091, G6PD, ABCD1, NSDHL, F8A2, LAGE3, PLXNB3, PNCK, PNMA5, CTAG1A, GAB3, PNMA6E, TKTL1, PNMA3, TEX28, IDH3G, OPN1LW, RENBP, RAB39B, MAGEA1, SMIM9, DNASE1L1, EMD, GDI1, VBP1, IKBKG, TREX2, AVPR2, SRPK3, BCAP31, H2AB1, ZNF185, H2AB2, ATP2B3, F8A1, OPN1MW, CTAG1B, L1CAM, ARHGAP4, DKC1, MPP1, F8A3, DUSP9, MTCP1, ATP6AP1, PDZD4		Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, X-linked Emery-Dreifuss muscular dystrophy, Adrenoleukodystrophy, Spastic paraplegia, Creatine transporter deficiency, 3-Methylglutaconic aciduria type 2	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 241437339.	NM_000116.5(TAFAZZIN):c.239-17C>G GRCh37: ChrX:153641527 GRCh38: ChrX:154413190	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 220261440.	NM_000116.5(TAFAZZIN):c.370+12del GRCh37: ChrX:153641915 GRCh38: ChrX:154413578	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 220045641.	NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln) GRCh37: ChrX:153649252 GRCh38: ChrX:154420913	TAFAZZIN	R233Q, R249Q, R219Q, R251Q, R263Q, R267Q	3-Methylglutaconic aciduria type 2	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 220032042.	NM_000116.5(TAFAZZIN):c.646+15G>A GRCh37: ChrX:153648448 GRCh38: ChrX:154420109	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219783243.	NM_000116.5(TAFAZZIN):c.461-7C>T GRCh37: ChrX:153647875 GRCh38: ChrX:154419536	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218869744.	NM_000116.5(TAFAZZIN):c.109+15G>A GRCh37: ChrX:153640304 GRCh38: ChrX:154411967	DNASE1L1, TAFAZZIN	A42T	3-Methylglutaconic aciduria type 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218493745.	NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln) GRCh37: ChrX:153649049 GRCh38: ChrX:154420710	TAFAZZIN	R221Q, R237Q, R255Q, R239Q, R251Q, R207Q	3-Methylglutaconic aciduria type 2	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 216909246.	NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=) GRCh37: ChrX:153648594 GRCh38: ChrX:154420255	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 216511947.	NM_000116.5(TAFAZZIN):c.238+7G>A GRCh37: ChrX:153640558 GRCh38: ChrX:154412221	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 216244648.	NM_000116.5(TAFAZZIN):c.110-15C>G GRCh37: ChrX:153640408 GRCh38: ChrX:154412071	DNASE1L1, TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 216203949.	NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=) GRCh37: ChrX:153648591 GRCh38: ChrX:154420252	TAFAZZIN		Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2	Likely benign (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215892450.	NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=) GRCh37: ChrX:153641572 GRCh38: ChrX:154413235	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215679051.	NM_000116.5(TAFAZZIN):c.370+19G>A GRCh37: ChrX:153641923 GRCh38: ChrX:154413586	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 215054252.	NM_000116.5(TAFAZZIN):c.646+8T>C GRCh37: ChrX:153648441 GRCh38: ChrX:154420102	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 214802153.	NM_000116.5(TAFAZZIN):c.541+8G>A GRCh37: ChrX:153647970 GRCh38: ChrX:154419631	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 214609354.	NM_000116.5(TAFAZZIN):c.371-19A>T GRCh37: ChrX:153642419 GRCh38: ChrX:154414082	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 214304655.	NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=) GRCh37: ChrX:153640222 GRCh38: ChrX:154411885	DNASE1L1, TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 213879256.	NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) GRCh37: ChrX:153648055 GRCh38: ChrX:154419716	TAFAZZIN	M155V, M173V, M185V	3-Methylglutaconic aciduria type 2	Conflicting interpretations of pathogenicity (Apr 4, 2022)	criteria provided, conflicting interpretations
Select item 213879157.	NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs) GRCh37: ChrX:153647955 GRCh38: ChrX:154419616	TAFAZZIN	P179fs, P197fs, P149fs	3-Methylglutaconic aciduria type 2	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 213152558.	NM_000116.5(TAFAZZIN):c.461-10_461-5del GRCh37: ChrX:153647868-153647873 GRCh38: ChrX:154419529-154419534	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213031759.	NM_000116.5(TAFAZZIN):c.461-3C>A GRCh37: ChrX:153647879 GRCh38: ChrX:154419540	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 212911360.	NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter) GRCh37: ChrX:153642452 GRCh38: ChrX:154414115	TAFAZZIN	Q147, Q129	3-Methylglutaconic aciduria type 2	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212712261.	NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs) GRCh37: ChrX:153648075 GRCh38: ChrX:154419736	TAFAZZIN	F162fs, F192fs	3-Methylglutaconic aciduria type 2	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 212619262.	NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=) GRCh37: ChrX:153648081 GRCh38: ChrX:154419742	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 211929363.	NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser) GRCh37: ChrX:153640440 GRCh38: ChrX:154412103	TAFAZZIN	T61S, T43S	3-Methylglutaconic aciduria type 2	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 211799864.	NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=) GRCh37: ChrX:153649002 GRCh38: ChrX:154420663	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 211217465.	NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter) GRCh37: ChrX:153640466 GRCh38: ChrX:154412129	TAFAZZIN	Y51, Y69	3-Methylglutaconic aciduria type 2	Pathogenic (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210546266.	NM_000116.5(TAFAZZIN):c.109+15del GRCh37: ChrX:153640303 GRCh38: ChrX:154411966	DNASE1L1, TAFAZZIN	A42fs	3-Methylglutaconic aciduria type 2	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210508267.	NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val) GRCh37: ChrX:153642446 GRCh38: ChrX:154414109	TAFAZZIN	F127V, F145V	3-Methylglutaconic aciduria type 2	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210347468.	NM_000116.5(TAFAZZIN):c.580_583+10del GRCh37: ChrX:153648081-153648094 GRCh38: ChrX:154419742-154419755	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 210331569.	NM_000116.5(TAFAZZIN):c.699+15C>T GRCh37: ChrX:153648618 GRCh38: ChrX:154420279	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210137770.	NM_000116.5(TAFAZZIN):c.647-14C>G GRCh37: ChrX:153648537 GRCh38: ChrX:154420198	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209379171.	NM_000116.5(TAFAZZIN):c.371-17T>C GRCh37: ChrX:153642421 GRCh38: ChrX:154414084	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 208392172.	NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=) GRCh37: ChrX:153640445 GRCh38: ChrX:154412108	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 207989973.	NM_000116.5(TAFAZZIN):c.460+17G>A GRCh37: ChrX:153642544 GRCh38: ChrX:154414207	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 206577774.	NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val) GRCh37: ChrX:153640181 GRCh38: ChrX:154411844	DNASE1L1, TAFAZZIN	M1V	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 206012275.	NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu) GRCh37: ChrX:153640458 GRCh38: ChrX:154412121	TAFAZZIN	V49L, V67L	3-Methylglutaconic aciduria type 2	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205999576.	NM_000116.5(TAFAZZIN):c.460+10G>T GRCh37: ChrX:153642537 GRCh38: ChrX:154414200	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 205539877.	NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=) GRCh37: ChrX:153640541 GRCh38: ChrX:154412204	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 204638078.	NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val) GRCh37: ChrX:153640492 GRCh38: ChrX:154412155	TAFAZZIN	A60V, A78V	3-Methylglutaconic aciduria type 2	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 204112979.	NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile) GRCh37: ChrX:153648562 GRCh38: ChrX:154420223	TAFAZZIN	V220I, V224I, V206I, V208I, V176I, V190I	3-Methylglutaconic aciduria type 2	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 203784980.	NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly) GRCh37: ChrX:153647945 GRCh38: ChrX:154419606	TAFAZZIN	V175G, V193G, V163G, V145G	3-Methylglutaconic aciduria type 2	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 203764781.	NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro) GRCh37: ChrX:153648074 GRCh38: ChrX:154419735	TAFAZZIN	R161P, R179P, R191P	3-Methylglutaconic aciduria type 2	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 203672482.	NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys) GRCh37: ChrX:153640272 GRCh38: ChrX:154411935	DNASE1L1, TAFAZZIN	Y31C	3-Methylglutaconic aciduria type 2	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 203330183.	NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile) GRCh37: ChrX:153649024 GRCh38: ChrX:154420685	TAFAZZIN	F199I, F231I, F213I, F229I, F247I, F243I	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 203287384.	NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile) GRCh37: ChrX:153649004 GRCh38: ChrX:154420665	TAFAZZIN	T192I, T222I, T224I, T206I, T236I, T240I	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 203123085.	NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile) GRCh37: ChrX:153640430 GRCh38: ChrX:154412093	DNASE1L1, TAFAZZIN	M39I, M57I	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 203070186.	NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=) GRCh37: ChrX:153640249 GRCh38: ChrX:154411912	DNASE1L1, TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 203025787.	NM_000116.5(TAFAZZIN):c.239-18G>A GRCh37: ChrX:153641526 GRCh38: ChrX:154413189	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 203000688.	NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile) GRCh37: ChrX:153640183 GRCh38: ChrX:154411846	TAFAZZIN, DNASE1L1	M1I	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 202984189.	NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln) GRCh37: ChrX:153649319 GRCh38: ChrX:154420980	TAFAZZIN	H241Q, H255Q, H273Q, H285Q, H289Q, H271Q	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 202231590.	NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=) GRCh37: ChrX:153648051 GRCh38: ChrX:154419712	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 202066391.	NM_000116.5(TAFAZZIN):c.285-14C>T GRCh37: ChrX:153641805 GRCh38: ChrX:154413468	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201398292.	NM_000116.5(TAFAZZIN):c.699+19C>T GRCh37: ChrX:153648622 GRCh38: ChrX:154420283	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 200912393.	NM_000116.5(TAFAZZIN):c.461-13C>A GRCh37: ChrX:153647869 GRCh38: ChrX:154419530	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 199850294.	NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile) GRCh37: ChrX:153648400 GRCh38: ChrX:154420061	TAFAZZIN	L191I, L209I, L175I, L193I, L161I, L205I	3-Methylglutaconic aciduria type 2	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199566695.	NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=) GRCh37: ChrX:153648420 GRCh38: ChrX:154420081	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 198400996.	NM_000116.5(TAFAZZIN):c.239-11C>T GRCh37: ChrX:153641533 GRCh38: ChrX:154413196	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 198160997.	NM_000116.5(TAFAZZIN):c.461-15G>A GRCh37: ChrX:153647867 GRCh38: ChrX:154419528	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 197957398.	NM_000116.5(TAFAZZIN):c.461-19A>G GRCh37: ChrX:153647863 GRCh38: ChrX:154419524	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 197563299.	NM_000116.5(TAFAZZIN):c.460+10G>A GRCh37: ChrX:153642537 GRCh38: ChrX:154414200	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 1974084100.	NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr) GRCh37: ChrX:153641842 GRCh38: ChrX:154413505	TAFAZZIN	C103Y, C121Y	3-Methylglutaconic aciduria type 2	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter

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