"Genetic Services Laboratory, University of Chicago"[submitter] AND "D - ClinVar

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Items: 54

	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)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 434881	NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr)	D2HGDH (A68T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 434882	NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu)	D2HGDH, LOC129936033 (P88L)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	GUncertain significance
Select item 210818	NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro)	D2HGDH, LOC129936033 (R94P)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance
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 158415	NM_152783.5(D2HGDH):c.292+28T>G	D2HGDH, LOC129936033	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 158418	NM_152783.5(D2HGDH):c.293-23A>T	D2HGDH	Single nucleotide variant (intron variant)	D2HGDH-related disorder +2 more	GBenign
Select item 158417	NM_152783.5(D2HGDH):c.293-18A>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 210819	NM_152783.5(D2HGDH):c.327G>A (p.Ser109=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GConflicting classifications of pathogenicity
Select item 158419	NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GConflicting classifications of pathogenicity
Select item 335311	NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile)	D2HGDH (V142I +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria +2 more	GUncertain significance
Select item 434883	NM_152783.5(D2HGDH):c.432C>T (p.Asp144=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 158421	NM_152783.5(D2HGDH):c.490+40T>C	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 158422	NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)	D2HGDH (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GConflicting classifications of pathogenicity
Select item 335314	NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434884	NM_152783.5(D2HGDH):c.600C>G (p.Ile200Met)	D2HGDH (I200M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 158423	NM_152783.5(D2HGDH):c.685-9T>C	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 434885	NM_152783.5(D2HGDH):c.685-8G>A	D2HGDH	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 434893	NM_152783.5(D2HGDH):c.773C>T (p.Ser258Leu)	D2HGDH (S258L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 210820	NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu)	D2HGDH (P274L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 434887	NM_152783.5(D2HGDH):c.841G>A (p.Val281Met)	D2HGDH (V281M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 210821	NM_152783.5(D2HGDH):c.896G>A (p.Cys299Tyr)	D2HGDH (C299Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 210822	NM_152783.5(D2HGDH):c.921G>T (p.Leu307=)	D2HGDH	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1337601	NM_152783.5(D2HGDH):c.998-3T>C	D2HGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 158404	NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)	D2HGDH (V338I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 210809	NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)	D2HGDH (S343fs +2 more)	Deletion (frameshift variant)	D-2-hydroxyglutaric aciduria	GPathogenic
Select item 210810	NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser)	D2HGDH (G355S +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1 +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)	D-2-hydroxyglutaric aciduria 1 +1 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)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 210811	NM_152783.5(D2HGDH):c.1105G>A (p.Asp369Asn)	D2HGDH (D369N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 210812	NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=)	D2HGDH	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 158408	NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	D2HGDH (R395Q +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 434888	NM_152783.5(D2HGDH):c.1191C>T (p.Gly397=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 434889	NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GLikely benign
Select item 158409	NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)	D2HGDH (A420T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434890	NM_152783.5(D2HGDH):c.1267G>A (p.Gly423Ser)	D2HGDH (G423S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 210814	NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 +3 more	GBenign/Likely benign
Select item 210815	NM_152783.5(D2HGDH):c.1306+2T>C	D2HGDH	Single nucleotide variant (splice donor variant)	D-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 158411	NM_152783.5(D2HGDH):c.1307-24A>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 434891	NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 335319	NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)	D2HGDH (L453F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 158412	NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 723735	NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign/Likely benign
Select item 434892	NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)	D2HGDH (E463K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158413	NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D2HGDH-related disorder +2 more	GBenign/Likely benign
Select item 210816	NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 335321	NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 210817	NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser)	D2HGDH (N512S +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance
Select item 335325	NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)	D2HGDH (T516M +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance

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Items: 54