Related gene-specific medical variations for Gene (Select 728294) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079835	NM_152783.5(D2HGDH):c.128C>T (p.Pro43Leu)	D2HGDH, LOC129936032 (P43L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3065857	NM_152783.5(D2HGDH):c.10dup (p.Arg4fs)	D2HGDH, LOC129936031 (R4fs)	Duplication (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely pathogenic
Select item 3020013	NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)	D2HGDH, LOC129936033	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2982477	NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)	LOC129936032, D2HGDH (R55P)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2979076	NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2807801	NM_152783.5(D2HGDH):c.281G>T (p.Arg94Leu)	D2HGDH, LOC129936033 (R94L)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2793620	NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2721309	NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2573099	NM_152783.5(D2HGDH):c.609C>G (p.Asn203Lys)	D2HGDH (N16K +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2329150	NM_152783.5(D2HGDH):c.97C>T (p.Arg33Cys)	D2HGDH, LOC129936032 (R33C)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2326327	NM_152783.5(D2HGDH):c.95C>T (p.Ala32Val)	D2HGDH, LOC129936032 (A32V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2160382	NM_152783.5(D2HGDH):c.177C>T (p.Phe59=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2093976	NM_152783.5(D2HGDH):c.273C>G (p.Asp91Glu)	D2HGDH, LOC129936033 (D91E)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2059149	NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)	D2HGDH, LOC129936031 (R4L)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1978683	NM_152783.5(D2HGDH):c.289C>G (p.Arg97Gly)	D2HGDH, LOC129936033 (R97G)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1942999	NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)	LOC129936032, D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1926376	NM_152783.5(D2HGDH):c.257A>G (p.Gln86Arg)	D2HGDH, LOC129936033 (Q86R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805533	NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)	D2HGDH, LOC129936031 (W24*)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1647802	NM_152783.5(D2HGDH):c.138G>A (p.Pro46=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1582688	NM_152783.5(D2HGDH):c.37C>T (p.Leu13=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1562804	NM_152783.5(D2HGDH):c.114C>T (p.Ser38=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1549075	NM_152783.5(D2HGDH):c.93G>T (p.Leu31=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 1544679	NM_152783.5(D2HGDH):c.57A>G (p.Gly19=)	D2HGDH, LOC129936031	Single nucleotide variant (synonymous variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1425038	NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu)	D2HGDH, LOC129936031 (P10L)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1418880	NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe)	D2HGDH, LOC129936032 (C36F)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1375477	NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn)	D2HGDH, LOC129936032 (G35N)	Indel (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1359059	NM_152783.5(D2HGDH):c.290G>A (p.Arg97Gln)	D2HGDH, LOC129936033 (R97Q)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1289699	NM_152783.5(D2HGDH):c.-92-197C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273444	NM_152783.5(D2HGDH):c.-93+203A>C	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263894	NM_152783.5(D2HGDH):c.-92-196C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1031686	NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)	D2HGDH (R21W +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1023523	NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)	D2HGDH, LOC129936032 (C36W)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 896714	NM_152783.5(D2HGDH):c.-45C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 896713	NM_152783.5(D2HGDH):c.-83C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 896712	NM_152783.5(D2HGDH):c.-93+15C>T	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895294	NM_152783.5(D2HGDH):c.-102G>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895293	NM_152783.5(D2HGDH):c.-105G>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895292	NM_152783.5(D2HGDH):c.-135C>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 748299	NM_152783.5(D2HGDH):c.156C>T (p.Tyr52=)	LOC129936032, D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 743858	NM_152783.5(D2HGDH):c.6G>A (p.Leu2=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 631852	NM_152783.5(D2HGDH):c.-92-2A>T	D2HGDH, LOC129936031	Single nucleotide variant (splice acceptor variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 445555	NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys)	D2HGDH, LOC129936032 (S63C)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +1 more	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 335310	NM_152783.5(D2HGDH):c.-37C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335309	NM_152783.5(D2HGDH):c.-91C>G	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 335308	NM_152783.5(D2HGDH):c.-98T>G	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335307	NM_152783.5(D2HGDH):c.-99A>G	LOC129936031, D2HGDH	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 335306	NM_152783.5(D2HGDH):c.-132C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335305	NM_152783.5(D2HGDH):c.-141C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 218849	NM_152783.5(D2HGDH):c.-92-4C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 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

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Items: 55