"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "L2HGDH"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694718	NC_000014.9:g.50237662GTT[1]	L2HGDH, LOC129390630	Microsatellite	not provided	GLikely benign
Select item 199173	NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)	L2HGDH (Y367C)	Single nucleotide variant (missense variant)	L2HGDH-related condition +3 more	GBenign/Likely benign
Select item 1607	NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)	L2HGDH (P302L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 788189	NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser)	L2HGDH (N216S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1175849	NM_024884.3(L2HGDH):c.639C>G (p.Val213=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870857	NM_024884.3(L2HGDH):c.528G>T (p.Glu176Asp)	L2HGDH (E176D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 559238	NM_024884.3(L2HGDH):c.336A>G (p.Leu112=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 211349	NM_024884.3(L2HGDH):c.6G>T (p.Val2=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

ClinVar