"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "D2HGDH"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158420	NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)	D2HGDH, LOC129936031 (R15G)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 158414	NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)	D2HGDH, LOC129936032 (R55Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 158416	NM_152783.5(D2HGDH):c.292+9G>A	D2HGDH, LOC129936033	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 1965886	NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)	D2HGDH (V6I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3379443	NM_152783.5(D2HGDH):c.550C>T (p.Arg184Trp)	D2HGDH (R184W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 158423	NM_152783.5(D2HGDH):c.685-9T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 434886	NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 158404	NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)	D2HGDH (V338I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 158405	NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr)	D2HGDH (H356Y +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 158406	NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val)	D2HGDH (A361V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 158407	NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=)	D2HGDH	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 210813	NM_152783.5(D2HGDH):c.1140+8G>A	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +2 more	GConflicting classifications of pathogenicity
Select item 335318	NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys)	D2HGDH (Y400C +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GUncertain significance
Select item 2682825	NM_152783.5(D2HGDH):c.1261C>T (p.Arg421Cys)	D2HGDH (R234C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 897258	NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)	D2HGDH (R287H +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GUncertain significance
Select item 158410	NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)	D2HGDH (A426T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 158413	NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3379444	NM_152783.5(D2HGDH):c.1486C>T (p.Gln496Ter)	D2HGDH (Q309* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance