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 24369571.	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 24223702.	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 24223693.	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 24223684.	NC_000023.10:g.(?_153640181)_(153775961_?)dup GRCh37: ChrX:153640181-153775961	PLXNA3, DNASE1L1, GDI1, SLC10A3, LAGE3, IKBKG, ATP6AP1, FAM50A, FAM3A, UBL4A, TAFAZZIN, G6PD		not provided, 3-Methylglutaconic aciduria type 2, Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24221575.	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 24143736.	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 22026147.	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 22004568.	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 22003209.	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 219783210.	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 218869711.	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 218493712.	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 216909213.	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 216511914.	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 216244615.	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 216203916.	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 215892417.	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 215679018.	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 215054219.	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 214802120.	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 214609321.	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 214304622.	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 213879223.	NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) GRCh37: ChrX:153648055 GRCh38: ChrX:154419716	TAFAZZIN	M155V, M173V, M185V	3-Methylglutaconic aciduria type 2	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 213879124.	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 213152525.	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 213031726.	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 212911327.	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 212712228.	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 212619229.	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 211929330.	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 211799831.	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 211217432.	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 210546233.	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 210508234.	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 210347435.	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 210331536.	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 210137737.	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 209379138.	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 208392139.	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 207989940.	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 206577741.	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 206012242.	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 205999543.	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 205539844.	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 204638045.	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 204112946.	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 203784947.	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 203764748.	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 203672449.	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 203330150.	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 203287351.	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 203123052.	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 203070153.	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 203025754.	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 203000655.	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 202984156.	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 202231557.	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 202066358.	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 201398259.	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 200912360.	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 199850261.	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 199566662.	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 198400963.	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 198160964.	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 197957365.	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 197563266.	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 197408467.	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
Select item 197187168.	NM_000116.5(TAFAZZIN):c.461-18G>A GRCh37: ChrX:153647864 GRCh38: ChrX:154419525	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 196901669.	NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=) GRCh37: ChrX:153649310 GRCh38: ChrX:154420971	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 196805070.	NM_000116.5(TAFAZZIN):c.646+7C>T GRCh37: ChrX:153648440 GRCh38: ChrX:154420101	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 196789871.	NM_000116.5(TAFAZZIN):c.370+2T>A GRCh37: ChrX:153641906 GRCh38: ChrX:154413569	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 196789572.	NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg) GRCh37: ChrX:153647962 GRCh38: ChrX:154419623	TAFAZZIN	G169R, G199R, G151R, G181R	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 196779273.	NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met) GRCh37: ChrX:153640495 GRCh38: ChrX:154412158	TAFAZZIN	T61M, T79M	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 196643374.	NM_000116.5(TAFAZZIN):c.239-17C>T GRCh37: ChrX:153641527 GRCh38: ChrX:154413190	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 196610575.	NM_000116.5(TAFAZZIN):c.238+1del GRCh37: ChrX:153640549 GRCh38: ChrX:154412212	TAFAZZIN		3-Methylglutaconic aciduria type 2	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 196042976.	NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=) GRCh37: ChrX:153649265 GRCh38: ChrX:154420926	TAFAZZIN		Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2	Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195798777.	NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs) GRCh37: ChrX:153649305-153649312 GRCh38: ChrX:154420966-154420973	TAFAZZIN	E252fs, E282fs, E238fs, E268fs, E286fs	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 195505478.	NM_000116.5(TAFAZZIN):c.541+20_541+40dup GRCh37: ChrX:153647981-153647982 GRCh38: ChrX:154419642-154419643	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 195340979.	NM_000116.5(TAFAZZIN):c.584-1G>A GRCh37: ChrX:153648370 GRCh38: ChrX:154420031	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 195300280.	NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys) GRCh37: ChrX:153640426 GRCh38: ChrX:154412089	DNASE1L1, TAFAZZIN	Y56C, Y38C	3-Methylglutaconic aciduria type 2	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 195259681.	NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro) GRCh37: ChrX:153649276 GRCh38: ChrX:154420937	TAFAZZIN	Q271P, Q275P, Q227P, Q241P, Q257P, Q259P	3-Methylglutaconic aciduria type 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 194948682.	NM_000116.5(TAFAZZIN):c.461-14C>A GRCh37: ChrX:153647868 GRCh38: ChrX:154419529	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 194741483.	NM_000116.5(TAFAZZIN):c.584-9C>T GRCh37: ChrX:153648362 GRCh38: ChrX:154420023	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 194414984.	NM_000116.5(TAFAZZIN):c.584-9C>G GRCh37: ChrX:153648362 GRCh38: ChrX:154420023	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Apr 21, 2021)	criteria provided, single submitter
Select item 193846685.	NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile) GRCh37: ChrX:153640280 GRCh38: ChrX:154411943	DNASE1L1, TAFAZZIN	F34I	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 193768886.	NM_000116.5(TAFAZZIN):c.284+5G>A GRCh37: ChrX:153641594 GRCh38: ChrX:154413257	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 193509887.	NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=) GRCh37: ChrX:153641882 GRCh38: ChrX:154413545	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 193293488.	NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=) GRCh37: ChrX:153640502 GRCh38: ChrX:154412165	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 193256589.	NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=) GRCh37: ChrX:153640499 GRCh38: ChrX:154412162	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 193109890.	NM_000116.5(TAFAZZIN):c.542-6C>T GRCh37: ChrX:153648038 GRCh38: ChrX:154419699	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 192856891.	NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln) GRCh37: ChrX:153642496 GRCh38: ChrX:154414159	TAFAZZIN	H143Q, H161Q	3-Methylglutaconic aciduria type 2	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 192250992.	NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs) GRCh37: ChrX:153648372 GRCh38: ChrX:154420033	TAFAZZIN	I166fs, I200fs, I152fs, I196fs, I182fs	3-Methylglutaconic aciduria type 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 192223693.	NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn) GRCh37: ChrX:153640198 GRCh38: ChrX:154411861	DNASE1L1, TAFAZZIN	K6N	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 191928494.	NM_000116.5(TAFAZZIN):c.370+18C>T GRCh37: ChrX:153641922 GRCh38: ChrX:154413585	TAFAZZIN		3-Methylglutaconic aciduria type 2	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 191861395.	NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe) GRCh37: ChrX:153641555 GRCh38: ChrX:154413218	TAFAZZIN	L102F, L84F	3-Methylglutaconic aciduria type 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 191815496.	NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=) GRCh37: ChrX:153640442 GRCh38: ChrX:154412105	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 191375897.	NM_000116.5(TAFAZZIN):c.371-4G>A GRCh37: ChrX:153642434 GRCh38: ChrX:154414097	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 191315898.	NM_000116.5(TAFAZZIN):c.646+12G>A GRCh37: ChrX:153648445 GRCh38: ChrX:154420106	TAFAZZIN		3-Methylglutaconic aciduria type 2	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 189778799.	NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg) GRCh37: ChrX:153648398 GRCh38: ChrX:154420059	TAFAZZIN	H192R, H190R, H204R, H174R, H208R, H160R	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 1806241100.	NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln) GRCh37: ChrX:153640462 GRCh38: ChrX:154412125	TAFAZZIN	L50Q, L68Q	3-Methylglutaconic aciduria type 2	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter

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