ClinVar for MedGen (Select 341029) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26374461.	NM_024884.3(L2HGDH):c.1081del (p.Ala361fs) GRCh37: Chr14:50732191 GRCh38: Chr14:50265473	L2HGDH	A361fs	L-2-hydroxyglutaric aciduria	Pathogenic (Oct 24, 2023)	criteria provided, single submitter
Select item 26274012.	NM_024884.3(L2HGDH):c.1322C>T (p.Pro441Leu) GRCh37: Chr14:50713846 GRCh38: Chr14:50247128	L2HGDH	P441L	L-2-hydroxyglutaric aciduria	Uncertain significance	criteria provided, single submitter
Select item 25853073.	NM_024884.3(L2HGDH):c.895A>G (p.Asn299Asp) GRCh37: Chr14:50735892 GRCh38: Chr14:50269174	L2HGDH	N299D	L-2-hydroxyglutaric aciduria	Uncertain significance	criteria provided, single submitter
Select item 25736194.	NM_024884.3(L2HGDH):c.140+2_140+8del GRCh37: Chr14:50778721-50778727 GRCh38: Chr14:50312003-50312009	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria	Likely pathogenic (Jun 8, 2023)	criteria provided, single submitter
Select item 25001915.	NM_024884.3(L2HGDH):c.632G>T (p.Gly211Val) GRCh37: Chr14:50750660 GRCh38: Chr14:50283942	L2HGDH	G211V	L-2-hydroxyglutaric aciduria	Uncertain significance (Apr 27, 2023)	criteria provided, single submitter
Select item 24268996.	NC_000014.8:g.(?_50760813)_(50768906_?)del GRCh37: Chr14:50760813-50768906	L2HGDH		L-2-hydroxyglutaric aciduria	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 24268987.	NC_000014.8:g.(?_50750569)_(50750771_?)del GRCh37: Chr14:50750569-50750771	L2HGDH		L-2-hydroxyglutaric aciduria	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 24205788.	NM_024884.3(L2HGDH):c.1342G>C (p.Ala448Pro) GRCh37: Chr14:50713826 GRCh38: Chr14:50247108	L2HGDH	A448P	L-2-hydroxyglutaric aciduria	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 24132769.	NM_024884.3(L2HGDH):c.256+3A>G GRCh37: Chr14:50769617 GRCh38: Chr14:50302899	L2HGDH		L-2-hydroxyglutaric aciduria	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 220112010.	NM_024884.3(L2HGDH):c.184G>A (p.Ala62Thr) GRCh37: Chr14:50769692 GRCh38: Chr14:50302974	L2HGDH	A62T	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 219734211.	NM_024884.3(L2HGDH):c.994G>A (p.Ala332Thr) GRCh37: Chr14:50734541 GRCh38: Chr14:50267823	L2HGDH	A332T	Inborn genetic diseases, L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219458912.	NM_024884.3(L2HGDH):c.920G>A (p.Arg307Gln) GRCh37: Chr14:50734615 GRCh38: Chr14:50267897	L2HGDH	R307Q	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219399813.	NM_024884.3(L2HGDH):c.141-20A>C GRCh37: Chr14:50769755 GRCh38: Chr14:50303037	L2HGDH		L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 219133214.	NM_024884.3(L2HGDH):c.1018C>T (p.Pro340Ser) GRCh37: Chr14:50734517 GRCh38: Chr14:50267799	L2HGDH	P340S	L-2-hydroxyglutaric aciduria	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219103215.	NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val) GRCh37: Chr14:50778792 GRCh38: Chr14:50312074	DMAC2L, L2HGDH	A26V	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 218753216.	NM_024884.3(L2HGDH):c.1197-17A>T GRCh37: Chr14:50713988 GRCh38: Chr14:50247270	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 218698717.	NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser) GRCh37: Chr14:50778751 GRCh38: Chr14:50312033	DMAC2L, L2HGDH	G40S	L-2-hydroxyglutaric aciduria	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 218398218.	NM_024884.3(L2HGDH):c.485C>T (p.Pro162Leu) GRCh37: Chr14:50760888 GRCh38: Chr14:50294170	L2HGDH	P162L	L-2-hydroxyglutaric aciduria	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 218245519.	NM_024884.3(L2HGDH):c.1130T>C (p.Phe377Ser) GRCh37: Chr14:50732142 GRCh38: Chr14:50265424	L2HGDH	F377S	L-2-hydroxyglutaric aciduria	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 218199720.	NM_024884.3(L2HGDH):c.906+7A>G GRCh37: Chr14:50735874 GRCh38: Chr14:50269156	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 218136621.	NM_024884.3(L2HGDH):c.906+18C>T GRCh37: Chr14:50735863 GRCh38: Chr14:50269145	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 216304622.	NM_024884.3(L2HGDH):c.803A>T (p.Glu268Val) GRCh37: Chr14:50735984 GRCh38: Chr14:50269266	L2HGDH	E268V	L-2-hydroxyglutaric aciduria	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 215671323.	NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr) GRCh37: Chr14:50778801 GRCh38: Chr14:50312083	DMAC2L, L2HGDH	S23Y	L-2-hydroxyglutaric aciduria	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 215220424.	NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg) GRCh37: Chr14:50769698 GRCh38: Chr14:50302980	L2HGDH	G60R	L-2-hydroxyglutaric aciduria	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 214864425.	NM_024884.3(L2HGDH):c.845G>C (p.Arg282Pro) GRCh37: Chr14:50735942 GRCh38: Chr14:50269224	L2HGDH	R282P	L-2-hydroxyglutaric aciduria	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 214174726.	NM_024884.3(L2HGDH):c.408+13del GRCh37: Chr14:50768722 GRCh38: Chr14:50302004	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 213758327.	NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu) GRCh37: Chr14:50769635 GRCh38: Chr14:50302917	L2HGDH	K81E	L-2-hydroxyglutaric aciduria	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 213758228.	NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter) GRCh37: Chr14:50736036 GRCh38: Chr14:50269318	L2HGDH	R251*	L-2-hydroxyglutaric aciduria	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 213758029.	NM_024884.3(L2HGDH):c.844C>T (p.Arg282Trp) GRCh37: Chr14:50735943 GRCh38: Chr14:50269225	L2HGDH	R282W	L-2-hydroxyglutaric aciduria	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 213757930.	NM_024884.3(L2HGDH):c.1006G>A (p.Glu336Lys) GRCh37: Chr14:50734529 GRCh38: Chr14:50267811	L2HGDH	E336K	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213365631.	NM_024884.3(L2HGDH):c.522G>A (p.Lys174=) GRCh37: Chr14:50760851 GRCh38: Chr14:50294133	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 211419332.	NM_024884.3(L2HGDH):c.1258G>A (p.Val420Ile) GRCh37: Chr14:50713910 GRCh38: Chr14:50247192	L2HGDH	V420I	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 210740333.	NM_024884.3(L2HGDH):c.826C>T (p.Pro276Ser) GRCh37: Chr14:50735961 GRCh38: Chr14:50269243	L2HGDH	P276S	L-2-hydroxyglutaric aciduria	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 209854334.	NM_024884.3(L2HGDH):c.408+15T>C GRCh37: Chr14:50768720 GRCh38: Chr14:50302002	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 208620435.	NM_024884.3(L2HGDH):c.256+2T>A GRCh37: Chr14:50769618 GRCh38: Chr14:50302900	L2HGDH		L-2-hydroxyglutaric aciduria	Pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 208228236.	NM_024884.3(L2HGDH):c.257-9G>C GRCh37: Chr14:50768895 GRCh38: Chr14:50302177	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207269337.	NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly) GRCh37: Chr14:50778748 GRCh38: Chr14:50312030	DMAC2L, L2HGDH	S41G	L-2-hydroxyglutaric aciduria	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 206643238.	NM_024884.3(L2HGDH):c.1196+20A>C GRCh37: Chr14:50732056 GRCh38: Chr14:50265338	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 206328739.	NM_024884.3(L2HGDH):c.226A>G (p.Ile76Val) GRCh37: Chr14:50769650 GRCh38: Chr14:50302932	L2HGDH	I76V	L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 206328640.	NM_024884.3(L2HGDH):c.1024G>A (p.Asp342Asn) GRCh37: Chr14:50734511 GRCh38: Chr14:50267793	L2HGDH	D342N	L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 205058041.	NM_024884.3(L2HGDH):c.540+19G>A GRCh37: Chr14:50760814 GRCh38: Chr14:50294096	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 204387142.	NM_024884.3(L2HGDH):c.1339A>G (p.Ile447Val) GRCh37: Chr14:50713829 GRCh38: Chr14:50247111	L2HGDH	I447V	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 204296743.	NM_024884.3(L2HGDH):c.1065-14T>G GRCh37: Chr14:50732221 GRCh38: Chr14:50265503	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202993244.	NM_024884.3(L2HGDH):c.408+7C>T GRCh37: Chr14:50768728 GRCh38: Chr14:50302010	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202610145.	NM_024884.3(L2HGDH):c.944del (p.Phe315fs) GRCh37: Chr14:50734591 GRCh38: Chr14:50267873	L2HGDH	F315fs	L-2-hydroxyglutaric aciduria	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 199837746.	NM_024884.3(L2HGDH):c.1379G>T (p.Arg460Ile) GRCh37: Chr14:50713789 GRCh38: Chr14:50247071	L2HGDH	R460I	L-2-hydroxyglutaric aciduria	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 199701047.	NM_024884.3(L2HGDH):c.190G>C (p.Ala64Pro) GRCh37: Chr14:50769686 GRCh38: Chr14:50302968	L2HGDH	A64P	L-2-hydroxyglutaric aciduria	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199162548.	NM_024884.3(L2HGDH):c.140+3G>C GRCh37: Chr14:50778726 GRCh38: Chr14:50312008	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198911549.	NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=) GRCh37: Chr14:50713938 GRCh38: Chr14:50247220	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 198636450.	NM_024884.3(L2HGDH):c.1200C>T (p.Gly400=) GRCh37: Chr14:50713968 GRCh38: Chr14:50247250	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 197252051.	NM_024884.3(L2HGDH):c.906+5G>T GRCh37: Chr14:50735876 GRCh38: Chr14:50269158	L2HGDH		L-2-hydroxyglutaric aciduria	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 196152052.	NM_024884.3(L2HGDH):c.141-16T>A GRCh37: Chr14:50769751 GRCh38: Chr14:50303033	L2HGDH		L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 196142853.	NM_024884.3(L2HGDH):c.603A>G (p.Ser201=) GRCh37: Chr14:50750689 GRCh38: Chr14:50283971	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 195647854.	NM_024884.3(L2HGDH):c.688T>C (p.Ser230Pro) GRCh37: Chr14:50750604 GRCh38: Chr14:50283886	L2HGDH	S230P	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 195629555.	NM_024884.3(L2HGDH):c.111G>A (p.Leu37=) GRCh37: Chr14:50778758 GRCh38: Chr14:50312040	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 195599056.	NM_024884.3(L2HGDH):c.978G>T (p.Gly326=) GRCh37: Chr14:50734557 GRCh38: Chr14:50267839	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 194908757.	NM_024884.3(L2HGDH):c.739-12A>G GRCh37: Chr14:50736060 GRCh38: Chr14:50269342	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 194616158.	NM_024884.3(L2HGDH):c.1118A>G (p.Tyr373Cys) GRCh37: Chr14:50732154 GRCh38: Chr14:50265436	L2HGDH	Y373C	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 193333859.	NM_024884.3(L2HGDH):c.498G>C (p.Leu166=) GRCh37: Chr14:50760875 GRCh38: Chr14:50294157	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 191846960.	NM_024884.3(L2HGDH):c.405C>G (p.Gly135=) GRCh37: Chr14:50768738 GRCh38: Chr14:50302020	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 191667861.	NM_024884.3(L2HGDH):c.739-20_739-19del GRCh37: Chr14:50736067-50736068 GRCh38: Chr14:50269349-50269350	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 190757162.	NM_024884.3(L2HGDH):c.147T>G (p.Phe49Leu) GRCh37: Chr14:50769729 GRCh38: Chr14:50303011	L2HGDH	F49L	L-2-hydroxyglutaric aciduria	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 190652863.	NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn) GRCh37: Chr14:50778747 GRCh38: Chr14:50312029	DMAC2L, L2HGDH	S41N	L-2-hydroxyglutaric aciduria	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 189685964.	NM_024884.3(L2HGDH):c.781C>T (p.Leu261Phe) GRCh37: Chr14:50736006 GRCh38: Chr14:50269288	L2HGDH	L261F	L-2-hydroxyglutaric aciduria	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 180611165.	NM_024884.3(L2HGDH):c.1031G>A (p.Ser344Asn) GRCh37: Chr14:50734504 GRCh38: Chr14:50267786	L2HGDH	S344N	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 171691566.	NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His) GRCh37: Chr14:50778850 GRCh38: Chr14:50312132	DMAC2L, L2HGDH	Y7H	L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171663967.	NM_024884.3(L2HGDH):c.1082C>A (p.Ala361Glu) GRCh37: Chr14:50732190 GRCh38: Chr14:50265472	L2HGDH	A361E	L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 170936768.	NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys) GRCh37: Chr14:50768775 GRCh38: Chr14:50302057	L2HGDH	Y123C	L-2-hydroxyglutaric aciduria	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 167295569.	NM_024884.3(L2HGDH):c.90G>A (p.Ala30=) GRCh37: Chr14:50778779 GRCh38: Chr14:50312061	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 5, 2021)	criteria provided, single submitter
Select item 163972770.	NM_024884.3(L2HGDH):c.907-13G>A GRCh37: Chr14:50734641 GRCh38: Chr14:50267923	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 163484771.	NM_024884.3(L2HGDH):c.816C>T (p.Cys272=) GRCh37: Chr14:50735971 GRCh38: Chr14:50269253	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 162668472.	NM_024884.3(L2HGDH):c.1065-13dup GRCh37: Chr14:50732219-50732220 GRCh38: Chr14:50265501-50265502	L2HGDH		L-2-hydroxyglutaric aciduria	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 162648673.	NM_024884.3(L2HGDH):c.1197-20C>T GRCh37: Chr14:50713991 GRCh38: Chr14:50247273	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 160496174.	NM_024884.3(L2HGDH):c.409-20T>C GRCh37: Chr14:50760984 GRCh38: Chr14:50294266	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 160065775.	NM_024884.3(L2HGDH):c.409-5del GRCh37: Chr14:50760969 GRCh38: Chr14:50294251	L2HGDH		L-2-hydroxyglutaric aciduria	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 160021276.	NM_024884.3(L2HGDH):c.704-4dup GRCh37: Chr14:50745275-50745276 GRCh38: Chr14:50278557-50278558	L2HGDH		L-2-hydroxyglutaric aciduria	Benign (Apr 22, 2022)	criteria provided, single submitter
Select item 157722077.	NM_024884.3(L2HGDH):c.852T>C (p.Asp284=) GRCh37: Chr14:50735935 GRCh38: Chr14:50269217	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 156353878.	NM_024884.3(L2HGDH):c.453C>A (p.Ala151=) GRCh37: Chr14:50760920 GRCh38: Chr14:50294202	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 156319179.	NM_024884.3(L2HGDH):c.1065-14_1065-13del GRCh37: Chr14:50732220-50732221 GRCh38: Chr14:50265502-50265503	L2HGDH		L-2-hydroxyglutaric aciduria	Benign (Oct 14, 2021)	criteria provided, single submitter
Select item 156136980.	NM_024884.3(L2HGDH):c.703+13del GRCh37: Chr14:50750576 GRCh38: Chr14:50283858	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 156075581.	NM_024884.3(L2HGDH):c.69C>G (p.Ser23=) GRCh37: Chr14:50778800 GRCh38: Chr14:50312082	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155007982.	NM_024884.3(L2HGDH):c.36C>T (p.Cys12=) GRCh37: Chr14:50778833 GRCh38: Chr14:50312115	DMAC2L, L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 154528083.	NM_024884.3(L2HGDH):c.739-5A>G GRCh37: Chr14:50736053 GRCh38: Chr14:50269335	L2HGDH		L-2-hydroxyglutaric aciduria	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 152335484.	NM_024884.3(L2HGDH):c.477T>G (p.Asn159Lys) GRCh37: Chr14:50760896 GRCh38: Chr14:50294178	L2HGDH	N159K	L-2-hydroxyglutaric aciduria	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 152273185.	NM_024884.3(L2HGDH):c.530C>T (p.Pro177Leu) GRCh37: Chr14:50760843 GRCh38: Chr14:50294125	L2HGDH	P177L	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 151438486.	NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg) GRCh37: Chr14:50778754 GRCh38: Chr14:50312036	DMAC2L, L2HGDH	G39R	L-2-hydroxyglutaric aciduria	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 151067687.	NM_024884.3(L2HGDH):c.919C>T (p.Arg307Trp) GRCh37: Chr14:50734616 GRCh38: Chr14:50267898	L2HGDH	R307W	L-2-hydroxyglutaric aciduria	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 150697888.	NM_024884.3(L2HGDH):c.1153C>T (p.Leu385Phe) GRCh37: Chr14:50732119 GRCh38: Chr14:50265401	L2HGDH	L385F	L-2-hydroxyglutaric aciduria	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 149685289.	NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly) GRCh37: Chr14:50778858 GRCh38: Chr14:50312140	DMAC2L, L2HGDH	A4G	L-2-hydroxyglutaric aciduria	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 149345890.	NM_024884.3(L2HGDH):c.623A>G (p.Glu208Gly) GRCh37: Chr14:50750669 GRCh38: Chr14:50283951	L2HGDH	E208G	L-2-hydroxyglutaric aciduria	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 148903191.	NM_024884.3(L2HGDH):c.167G>A (p.Gly56Asp) GRCh37: Chr14:50769709 GRCh38: Chr14:50302991	L2HGDH	G56D	L-2-hydroxyglutaric aciduria	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 148665692.	NM_024884.3(L2HGDH):c.764T>C (p.Val255Ala) GRCh37: Chr14:50736023 GRCh38: Chr14:50269305	L2HGDH	V255A	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 148497193.	NM_024884.3(L2HGDH):c.949C>A (p.Pro317Thr) GRCh37: Chr14:50734586 GRCh38: Chr14:50267868	L2HGDH	P317T	L-2-hydroxyglutaric aciduria	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 146112294.	NM_024884.3(L2HGDH):c.1323del (p.Ala442fs) GRCh37: Chr14:50713845 GRCh38: Chr14:50247127	L2HGDH	A442fs	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 144893995.	NM_024884.3(L2HGDH):c.853del (p.Tyr285fs) GRCh37: Chr14:50735934 GRCh38: Chr14:50269216	L2HGDH	Y285fs	L-2-hydroxyglutaric aciduria	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 144041096.	NM_024884.3(L2HGDH):c.1187A>G (p.Asp396Gly) GRCh37: Chr14:50732085 GRCh38: Chr14:50265367	L2HGDH	D396G	L-2-hydroxyglutaric aciduria	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 143707897.	NM_024884.3(L2HGDH):c.1047G>A (p.Met349Ile) GRCh37: Chr14:50734488 GRCh38: Chr14:50267770	L2HGDH	M349I	Inborn genetic diseases, L-2-hydroxyglutaric aciduria	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143602998.	NM_024884.3(L2HGDH):c.1285G>A (p.Gly429Arg) GRCh37: Chr14:50713883 GRCh38: Chr14:50247165	L2HGDH	G429R	L-2-hydroxyglutaric aciduria	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 143479799.	NM_024884.3(L2HGDH):c.1312G>A (p.Ala438Thr) GRCh37: Chr14:50713856 GRCh38: Chr14:50247138	L2HGDH	A438T	L-2-hydroxyglutaric aciduria	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 1429237100.	NM_024884.3(L2HGDH):c.418G>C (p.Ala140Pro) GRCh37: Chr14:50760955 GRCh38: Chr14:50294237	L2HGDH	A140P	L-2-hydroxyglutaric aciduria	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter

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