ClinVar for MedGen (Select 6217) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25734801.	NM_001918.5(DBT):c.434-1G>C GRCh37: Chr1:100684304 GRCh38: Chr1:100218748	DBT		Maple syrup urine disease	Likely pathogenic (Jun 20, 2023)	criteria provided, single submitter
Select item 25010172.	NM_183050.4(BCKDHB):c.612dup (p.Ala205fs) GRCh37: Chr6:80878720-80878721 GRCh38: Chr6:80169003-80169004	BCKDHB	A135fs, A205fs	Maple syrup urine disease	Likely pathogenic (Mar 21, 2023)	criteria provided, single submitter
Select item 24458763.	NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter) GRCh37: Chr19:41903764 GRCh38: Chr19:41397859	BCKDHA	W11*	Maple syrup urine disease	Likely pathogenic (Feb 16, 2023)	criteria provided, single submitter
Select item 24423954.	NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe) GRCh37: Chr6:80878694 GRCh38: Chr6:80168977	BCKDHB	L124F, L194F	Maple syrup urine disease	Pathogenic	criteria provided, single submitter
Select item 24407085.	NM_001918.5(DBT):c.500A>C (p.Lys167Thr) GRCh37: Chr1:100684237 GRCh38: Chr1:100218681	DBT	K167T	Maple syrup urine disease	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 24276176.	NC_000006.11:g.(?_80910651)_(80910770_?)del GRCh37: Chr6:80910651-80910770	BCKDHB		Maple syrup urine disease	Pathogenic (Sep 8, 2022)	criteria provided, single submitter
Select item 24276157.	NC_000006.11:g.(?_80816411)_(81053521_?)del GRCh37: Chr6:80816411-81053521	BCKDHB		Maple syrup urine disease	Pathogenic (Jun 12, 2022)	criteria provided, single submitter
Select item 24276148.	NC_000006.11:g.(?_80880989)_(81055997_?)del GRCh37: Chr6:80880989-81055997	BCKDHB		Maple syrup urine disease	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 24276139.	NC_000006.11:g.(?_80877385)_(80878757_?)del GRCh37: Chr6:80877385-80878757	BCKDHB		Maple syrup urine disease	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 242761210.	NC_000006.11:g.(?_80837244)_(80982958_?)del GRCh37: Chr6:80837244-80982958	BCKDHB		Maple syrup urine disease	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 242677011.	NC_000006.11:g.(?_79650410)_(80912949_?)del GRCh37: Chr6:79650410-80912949	TTK, ELOVL4, LCA5, SH3BGRL2, HMGN3, PHIP, BCKDHB, LINC01621		Maple syrup urine disease, not provided	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 242432012.	NC_000001.10:g.(?_100316599)_(101709564_?)dup GRCh37: Chr1:100316599-101709564	EXTL2, SLC30A7, SLC35A3, TRMT13, MFSD14A, VCAM1, DPH5, DBT, CDC14A, GPR88, AGL, S1PR1, LRRC39, SASS6, RTCA		Maple syrup urine disease	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 242431913.	NC_000001.10:g.(?_100680363)_(100684318_?)del GRCh37: Chr1:100680363-100684318	DBT		Maple syrup urine disease	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 242335014.	NC_000019.9:g.(?_39904727)_(42931301_?)dup GRCh37: Chr19:39904727-42931301	ACTMAP, HNRNPUL1, ZNF780A, ZNF780B, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, LEUTX, BCKDHA, CCNP, CD79A, CEACAM21, CEACAM3, BLVRB, C19orf47, CCDC97, ITPKC, LGALS13, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574		Congenital hypoplastic anemia, TWIST1-related craniosynostosis, Maple syrup urine disease, MEGF8-related Carpenter syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 242334915.	NC_000019.9:g.(?_41916532)_(41920072_?)del GRCh37: Chr19:41916532-41920072	BCKDHA		Maple syrup urine disease	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 242111716.	NM_001918.5(DBT):c.1420C>A (p.Pro474Thr) GRCh37: Chr1:100661840 GRCh38: Chr1:100196284	DBT	P293T, P474T	Maple syrup urine disease	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 242107517.	NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr) GRCh37: Chr6:80816429 GRCh38: Chr6:80106712	BCKDHB	A7T	Maple syrup urine disease	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 241866018.	NM_001918.5(DBT):c.1372G>T (p.Ala458Ser) GRCh37: Chr1:100661888 GRCh38: Chr1:100196332	DBT	A277S, A458S	Maple syrup urine disease	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 241569019.	NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala) GRCh37: Chr6:80982868 GRCh38: Chr6:80273151	BCKDHB	G253A, G323A	Maple syrup urine disease	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 241524620.	NM_001918.5(DBT):c.1282-7T>C GRCh37: Chr1:100661985 GRCh38: Chr1:100196429	DBT		Maple syrup urine disease	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 241421421.	NM_001918.5(DBT):c.1264G>A (p.Ala422Thr) GRCh37: Chr1:100671803 GRCh38: Chr1:100206247	DBT	A241T, A422T	Maple syrup urine disease	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 241340122.	NM_000709.4(BCKDHA):c.117C>T (p.Pro39=) GRCh37: Chr19:41916550 GRCh38: Chr19:41410645	BCKDHA		Maple syrup urine disease	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 220282623.	NM_001918.5(DBT):c.650dup (p.Leu217fs) GRCh37: Chr1:100681660-100681661 GRCh38: Chr1:100216104-100216105	DBT	L217fs, L36fs	Maple syrup urine disease	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 220234624.	NM_001918.5(DBT):c.215T>C (p.Ile72Thr) GRCh37: Chr1:100701028 GRCh38: Chr1:100235472	DBT	I72T	Maple syrup urine disease	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 220205525.	NM_000709.4(BCKDHA):c.289-4G>C GRCh37: Chr19:41916824 GRCh38: Chr19:41410919	BCKDHA		Maple syrup urine disease	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 220118226.	NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=) GRCh37: Chr6:81053461 GRCh38: Chr6:80343744	BCKDHB		Maple syrup urine disease	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 220103327.	NM_000709.4(BCKDHA):c.1167+18G>A GRCh37: Chr19:41929092 GRCh38: Chr19:41423187	BCKDHA		Maple syrup urine disease	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 219998628.	NM_000709.4(BCKDHA):c.276C>T (p.Ser92=) GRCh37: Chr19:41916709 GRCh38: Chr19:41410804	BCKDHA		Maple syrup urine disease	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 219971729.	NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys) GRCh37: Chr19:41930460 GRCh38: Chr19:41424555	BCKDHA	R428C, R429C	Maple syrup urine disease	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 219843230.	NM_001918.5(DBT):c.181C>T (p.Arg61Cys) GRCh37: Chr1:100701062 GRCh38: Chr1:100235506	DBT	R61C	Maple syrup urine disease	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219835231.	NM_000709.4(BCKDHA):c.1090C>T (p.Leu364=) GRCh37: Chr19:41928997 GRCh38: Chr19:41423092	BCKDHA		Maple syrup urine disease	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 219523632.	NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser) GRCh37: Chr19:41928629 GRCh38: Chr19:41422724	BCKDHA	A316S, A317S	Inborn genetic diseases, Maple syrup urine disease	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219419733.	NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser) GRCh37: Chr6:80816510 GRCh38: Chr6:80106793	BCKDHB	G34S	Inborn genetic diseases, Maple syrup urine disease	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219417334.	NM_000709.4(BCKDHA):c.453G>A (p.Thr151=) GRCh37: Chr19:41920031 GRCh38: Chr19:41414126	BCKDHA		Maple syrup urine disease	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 219189335.	NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr) GRCh37: Chr6:80837305 GRCh38: Chr6:80127588	BCKDHB	A10T, A80T	Maple syrup urine disease	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 218961236.	NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln) GRCh37: Chr19:41930371 GRCh38: Chr19:41424466	BCKDHA	R399Q, R398Q	Maple syrup urine disease	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 218822137.	NM_183050.4(BCKDHB):c.633+15G>A GRCh37: Chr6:80878762 GRCh38: Chr6:80169045	BCKDHB		Maple syrup urine disease	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 218611238.	NM_000709.4(BCKDHA):c.854-16C>T GRCh37: Chr19:41928518 GRCh38: Chr19:41422613	BCKDHA		Maple syrup urine disease	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218595439.	NM_183050.4(BCKDHB):c.702T>C (p.Pro234=) GRCh37: Chr6:80881067 GRCh38: Chr6:80171350	BCKDHB		Maple syrup urine disease	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 218455840.	NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met) GRCh37: Chr19:41928658 GRCh38: Chr19:41422753	BCKDHA	I325M, I326M	Maple syrup urine disease	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 218280341.	NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile) GRCh37: Chr19:41916674 GRCh38: Chr19:41410769	BCKDHA	V81I	Maple syrup urine disease	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 217837642.	NM_001918.5(DBT):c.715A>C (p.Ile239Leu) GRCh37: Chr1:100681596 GRCh38: Chr1:100216040	DBT	I58L, I239L	Maple syrup urine disease	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217765543.	NM_000709.4(BCKDHA):c.375+5G>A GRCh37: Chr19:41916919 GRCh38: Chr19:41411014	BCKDHA		Maple syrup urine disease	Uncertain significance (Jun 15, 2021)	criteria provided, single submitter
Select item 217535544.	NM_000709.4(BCKDHA):c.853+2T>C GRCh37: Chr19:41928277 GRCh38: Chr19:41422372	BCKDHA		Maple syrup urine disease	Likely pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 217311045.	NM_000709.4(BCKDHA):c.289-6C>G GRCh37: Chr19:41916822 GRCh38: Chr19:41410917	BCKDHA		Maple syrup urine disease	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 217303246.	NM_000709.4(BCKDHA):c.995+17C>G GRCh37: Chr19:41928692 GRCh38: Chr19:41422787	BCKDHA		Maple syrup urine disease	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 217268747.	NM_000709.4(BCKDHA):c.853+10C>T GRCh37: Chr19:41928285 GRCh38: Chr19:41422380	BCKDHA		Maple syrup urine disease	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 217264848.	NM_000709.4(BCKDHA):c.67del (p.Leu23fs) GRCh37: Chr19:41903798 GRCh38: Chr19:41397893	BCKDHA	L23fs	Maple syrup urine disease	Pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 217177049.	NM_001918.5(DBT):c.230G>A (p.Arg77Lys) GRCh37: Chr1:100701013 GRCh38: Chr1:100235457	DBT	R77K	Maple syrup urine disease	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 217039750.	NM_183050.4(BCKDHB):c.1039-10_1039-9del GRCh37: Chr6:81053369-81053370 GRCh38: Chr6:80343652-80343653	BCKDHB		Maple syrup urine disease	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 217029051.	NM_183050.4(BCKDHB):c.996C>T (p.Pro332=) GRCh37: Chr6:80982896 GRCh38: Chr6:80273179	BCKDHB		Maple syrup urine disease	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 216853552.	NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn) GRCh37: Chr19:41916636 GRCh38: Chr19:41410731	BCKDHA	I68N	Maple syrup urine disease	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 216809753.	NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=) GRCh37: Chr6:81053491 GRCh38: Chr6:80343774	BCKDHB		Maple syrup urine disease	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 216735154.	NM_183050.4(BCKDHB):c.468A>C (p.Ala156=) GRCh37: Chr6:80877519 GRCh38: Chr6:80167802	BCKDHB		Maple syrup urine disease	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 216560055.	NM_001918.5(DBT):c.1014T>C (p.Tyr338=) GRCh37: Chr1:100676253 GRCh38: Chr1:100210697	DBT		Maple syrup urine disease	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 216398456.	NM_001918.5(DBT):c.182G>A (p.Arg61His) GRCh37: Chr1:100701061 GRCh38: Chr1:100235505	DBT	R61H	Maple syrup urine disease	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 216220357.	NM_001918.5(DBT):c.899C>T (p.Ala300Val) GRCh37: Chr1:100680413 GRCh38: Chr1:100214857	DBT	A119V, A300V	Maple syrup urine disease	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 216190258.	NM_000709.4(BCKDHA):c.854-8C>T GRCh37: Chr19:41928526 GRCh38: Chr19:41422621	BCKDHA		Maple syrup urine disease	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216074259.	NM_183050.4(BCKDHB):c.743-18T>C GRCh37: Chr6:80910633 GRCh38: Chr6:80200916	BCKDHB		Maple syrup urine disease	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 216069160.	NM_183050.4(BCKDHB):c.498G>A (p.Lys166=) GRCh37: Chr6:80878612 GRCh38: Chr6:80168895	BCKDHB		Maple syrup urine disease	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 215964961.	NM_001918.5(DBT):c.1259T>C (p.Ile420Thr) GRCh37: Chr1:100671808 GRCh38: Chr1:100206252	DBT	I239T, I420T	Maple syrup urine disease	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 215930962.	NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys) GRCh37: Chr6:81053517 GRCh38: Chr6:80343800	BCKDHB	Y322C, Y392C	Maple syrup urine disease	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215915863.	NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn) GRCh37: Chr6:80877400 GRCh38: Chr6:80167683	BCKDHB	D117N, D47N	Maple syrup urine disease	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215896264.	NM_001918.5(DBT):c.940G>T (p.Ala314Ser) GRCh37: Chr1:100676327 GRCh38: Chr1:100210771	DBT	A133S, A314S	Maple syrup urine disease	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 215729965.	NM_000709.4(BCKDHA):c.835del (p.Tyr279fs) GRCh37: Chr19:41928257 GRCh38: Chr19:41422352	BCKDHA	Y279fs	Maple syrup urine disease	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 215727066.	NM_001918.5(DBT):c.533G>A (p.Arg178His) GRCh37: Chr1:100684204 GRCh38: Chr1:100218648	DBT	R178H	Maple syrup urine disease	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 215725867.	NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val) GRCh37: Chr19:41916635 GRCh38: Chr19:41410730	BCKDHA	I68V	Maple syrup urine disease	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 215700168.	NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met) GRCh37: Chr6:80881091 GRCh38: Chr6:80171374	BCKDHB	I242M, I172M	Maple syrup urine disease	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215614369.	NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser) GRCh37: Chr19:41916641 GRCh38: Chr19:41410736	BCKDHA	P70S	Maple syrup urine disease	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215582070.	NM_001918.5(DBT):c.465A>C (p.Ala155=) GRCh37: Chr1:100684272 GRCh38: Chr1:100218716	DBT		Maple syrup urine disease	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 215552971.	NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys) GRCh37: Chr6:80910698 GRCh38: Chr6:80200981	BCKDHB	E264K, E194K	Maple syrup urine disease	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 215353472.	NM_001918.5(DBT):c.398A>T (p.Lys133Met) GRCh37: Chr1:100696324 GRCh38: Chr1:100230768	DBT	K133M	Maple syrup urine disease	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 215346873.	NM_001918.5(DBT):c.16A>G (p.Met6Val) GRCh37: Chr1:100715361 GRCh38: Chr1:100249805	DBT	M6V	Maple syrup urine disease	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 215315274.	NM_000709.4(BCKDHA):c.853+19G>A GRCh37: Chr19:41928294 GRCh38: Chr19:41422389	BCKDHA		Maple syrup urine disease	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 215248475.	NM_001918.5(DBT):c.433+6G>A GRCh37: Chr1:100696283 GRCh38: Chr1:100230727	DBT		Maple syrup urine disease	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 215190276.	NM_001918.5(DBT):c.667G>A (p.Val223Ile) GRCh37: Chr1:100681644 GRCh38: Chr1:100216088	DBT	V223I, V42I	Maple syrup urine disease	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215122777.	NM_001918.5(DBT):c.979G>A (p.Ala327Thr) GRCh37: Chr1:100676288 GRCh38: Chr1:100210732	DBT	A146T, A327T	Maple syrup urine disease	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 215080278.	NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn) GRCh37: Chr19:41916842 GRCh38: Chr19:41410937	BCKDHA	K101N	Maple syrup urine disease	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 215025879.	NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala) GRCh37: Chr6:80878683 GRCh38: Chr6:80168966	BCKDHB	G120A, G190A	Maple syrup urine disease	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 214874580.	NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly) GRCh37: Chr19:41928980 GRCh38: Chr19:41423075	BCKDHA	D357G, D358G	Maple syrup urine disease	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214798281.	NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys) GRCh37: Chr6:80878698 GRCh38: Chr6:80168981	BCKDHB	Y125C, Y195C	Maple syrup urine disease	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 214760082.	NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln) GRCh37: Chr6:80982871 GRCh38: Chr6:80273154	BCKDHB	R324Q, R254Q	Maple syrup urine disease	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 214721183.	NM_001918.5(DBT):c.292A>G (p.Ile98Val) GRCh37: Chr1:100696430 GRCh38: Chr1:100230874	DBT	I98V	Maple syrup urine disease	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 214677684.	NM_001918.5(DBT):c.799A>T (p.Met267Leu) GRCh37: Chr1:100680513 GRCh38: Chr1:100214957	DBT	M86L, M267L	Maple syrup urine disease	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 214584685.	NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly) GRCh37: Chr6:80816433 GRCh38: Chr6:80106716	BCKDHB	A8G	Maple syrup urine disease	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 214538786.	NM_001918.5(DBT):c.1077G>A (p.Val359=) GRCh37: Chr1:100672133 GRCh38: Chr1:100206577	DBT		Maple syrup urine disease	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 214404787.	NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln) GRCh37: Chr19:41916684 GRCh38: Chr19:41410779	BCKDHA	R84Q	Maple syrup urine disease	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 214394288.	NM_001918.5(DBT):c.36G>C (p.Arg12Ser) GRCh37: Chr1:100715341 GRCh38: Chr1:100249785	DBT	R12S	Maple syrup urine disease	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 214261089.	NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val) GRCh37: Chr19:41928938 GRCh38: Chr19:41423033	BCKDHA	A343V, A344V	Maple syrup urine disease	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 214191690.	NM_183050.4(BCKDHB):c.114C>T (p.Pro38=) GRCh37: Chr6:80816524 GRCh38: Chr6:80106807	BCKDHB		Maple syrup urine disease	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 214170191.	NM_000709.4(BCKDHA):c.148G>C (p.Asp50His) GRCh37: Chr19:41916581 GRCh38: Chr19:41410676	BCKDHA	D50H	Maple syrup urine disease	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 214091592.	NM_000709.4(BCKDHA):c.109-15T>A GRCh37: Chr19:41916527 GRCh38: Chr19:41410622	BCKDHA		Maple syrup urine disease	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 213829893.	NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser) GRCh37: Chr19:41928222 GRCh38: Chr19:41422317	BCKDHA	N267S	Maple syrup urine disease	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 213644694.	NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys) GRCh37: Chr6:80910675 GRCh38: Chr6:80200958	BCKDHB	Y186C, Y256C	Maple syrup urine disease	Likely pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 213644595.	NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs) GRCh37: Chr6:80881027-80881028 GRCh38: Chr6:80171310-80171311	BCKDHB	A151fs, A221fs	Maple syrup urine disease	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 213644496.	NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly) GRCh37: Chr6:80881011 GRCh38: Chr6:80171294	BCKDHB	R216G, R146G	Maple syrup urine disease	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 213408397.	NM_000709.4(BCKDHA):c.484+7dup GRCh37: Chr19:41920068-41920069 GRCh38: Chr19:41414163-41414164	BCKDHA		Maple syrup urine disease	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 213402598.	NM_183050.4(BCKDHB):c.915G>A (p.Arg305=) GRCh37: Chr6:80912893 GRCh38: Chr6:80203176	BCKDHB		Maple syrup urine disease	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213321499.	NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu) GRCh37: Chr6:80910665 GRCh38: Chr6:80200948	BCKDHB	I253L, I183L	Maple syrup urine disease	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 2133012100.	NM_183050.4(BCKDHB):c.321T>C (p.Thr107=) GRCh37: Chr6:80838924 GRCh38: Chr6:80129207	BCKDHB		Maple syrup urine disease	Likely benign (May 2, 2022)	criteria provided, single submitter

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