"Athena Diagnostics"[submitter] AND "L2HGDH"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791743	NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 211346	NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)	L2HGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435690	NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)	L2HGDH (T393A)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +3 more	GConflicting classifications of pathogenicity
Select item 199173	NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)	L2HGDH (Y367C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 586107	NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His)	L2HGDH (Y367H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804980	NM_024884.3(L2HGDH):c.906G>A (p.Pro302=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 718946	NM_024884.3(L2HGDH):c.756T>C (p.Cys252=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 447679	NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln)	L2HGDH (R251Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 586108	NM_024884.3(L2HGDH):c.510G>A (p.Glu170=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1256319	NM_024884.3(L2HGDH):c.456A>G (p.Leu152=)	L2HGDH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 804979	NM_024884.3(L2HGDH):c.409-15dup	L2HGDH	Duplication (intron variant)	L-2-hydroxyglutaric aciduria +1 more	GBenign
Select item 158798	NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)	L2HGDH	Single nucleotide variant (synonymous variant)	not specified +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)	not provided +2 more	GBenign/Likely benign
Select item 576215	NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)	DMAC2L, L2HGDH (P24S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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