Related gene-specific medical variations for Gene (Select 79944) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243998	NC_000014.8:g.(?_50732056)_(50732227_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3243997	NC_000014.8:g.(?_50734451)_(50734648_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3238838	NM_024884.3(L2HGDH):c.169G>A (p.Gly57Arg)	L2HGDH (G20R +1 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3064398	NM_024884.3(L2HGDH):c.140+1G>A	DMAC2L, L2HGDH	Single nucleotide variant (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2766149	NM_024884.3(L2HGDH):c.140+17C>G	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2573619	NM_024884.3(L2HGDH):c.140+2_140+8del	DMAC2L, L2HGDH	Deletion (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 2191032	NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)	DMAC2L, L2HGDH (A26V)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria +1 more	GUncertain significance
Select item 2186987	NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)	DMAC2L, L2HGDH (G40S)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2156713	NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)	L2HGDH, DMAC2L (S23Y)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2072693	NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)	DMAC2L, L2HGDH (S41G)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1991625	NM_024884.3(L2HGDH):c.140+3G>C	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria +1 more	GUncertain significance
Select item 1956295	NM_024884.3(L2HGDH):c.111G>A (p.Leu37=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1906528	NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)	DMAC2L, L2HGDH (S41N)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1716915	NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)	DMAC2L, L2HGDH (Y7H)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1672955	NM_024884.3(L2HGDH):c.90G>A (p.Ala30=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1560755	NM_024884.3(L2HGDH):c.69C>G (p.Ser23=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1550079	NM_024884.3(L2HGDH):c.36C>T (p.Cys12=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1514384	NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg)	L2HGDH, DMAC2L (G39R)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1496852	NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly)	DMAC2L, L2HGDH (A4G)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1396989	NM_024884.3(L2HGDH):c.106C>A (p.Pro36Thr)	DMAC2L, L2HGDH (P36T)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1342871	NM_024884.3(L2HGDH):c.1A>G (p.Met1Val)	DMAC2L, L2HGDH (M1V)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 1301783	NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln)	DMAC2L, L2HGDH (R14Q)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1256319	NM_024884.3(L2HGDH):c.456A>G (p.Leu152=)	L2HGDH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1010586	NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg)	DMAC2L, L2HGDH (G40R)	Single nucleotide variant (missense variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 973586	NM_024884.3(L2HGDH):c.1065-13_1196+207del	L2HGDH	Deletion (splice acceptor variant +1 more)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 931549	NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter)	L2HGDH (Q237*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 754495	NM_024884.3(L2HGDH):c.60C>T (p.Ala20=)	L2HGDH, DMAC2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 576215	NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)	DMAC2L, L2HGDH (P24S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +2 more	GConflicting classifications of pathogenicity
Select item 559239	NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)	DMAC2L, L2HGDH (P3L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 435697	NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)	DMAC2L, L2HGDH (T46I)	Single nucleotide variant (missense variant)	L2HGDH-related disorder +2 more	GLikely benign
Select item 211349	NM_024884.3(L2HGDH):c.6G>T (p.Val2=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 158803	NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser)	DMAC2L, L2HGDH (R33S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +3 more	GBenign/Likely benign
Select item 158799	NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)	DMAC2L, L2HGDH (L18R)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +2 more	GBenign/Likely benign

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Items: 33