D2HGDH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715392	NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp)	D2HGDH (R26W)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1940677	NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)	D2HGDH (P27S)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2600223	NM_152783.5(D2HGDH):c.194A>G (p.Gln65Arg)	D2HGDH (Q65R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1094054	NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GLikely benign
Select item 2230083	NM_152783.5(D2HGDH):c.199C>G (p.Leu67Val)	D2HGDH (L67V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
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 2165185	NM_152783.5(D2HGDH):c.204C>T (p.Ala68=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 798165	NM_152783.5(D2HGDH):c.228C>T (p.Gly76=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2081424	NM_152783.5(D2HGDH):c.229G>A (p.Gly77Arg)	D2HGDH (G77R)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1253484	NM_152783.5(D2HGDH):c.293-219G>A	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266665	NM_152783.5(D2HGDH):c.293-82A>G	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265966	NM_152783.5(D2HGDH):c.293-73C>T	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158418	NM_152783.5(D2HGDH):c.293-23A>T	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1854	NM_152783.5(D2HGDH):c.293-23A>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 158417	NM_152783.5(D2HGDH):c.293-18A>G	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 897184	NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp)	D2HGDH (R107W)	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1986546	NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)	D2HGDH (R107Q)	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 897185	NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GConflicting classifications of pathogenicity
Select item 1857	NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)	D2HGDH (E110fs)	Duplication (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 2228052	NM_152783.5(D2HGDH):c.326C>T (p.Ser109Leu)	D2HGDH (S109L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1701413	NM_152783.5(D2HGDH):c.326C>G (p.Ser109Trp)	D2HGDH (S109W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 210819	NM_152783.5(D2HGDH):c.327G>A (p.Ser109=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1027802	NM_152783.5(D2HGDH):c.350+10_350+12del	D2HGDH	Microsatellite (intron variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2180753	NM_152783.5(D2HGDH):c.350+18G>A	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1598838	NM_152783.5(D2HGDH):c.350+19del	D2HGDH	Deletion (intron variant)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 2745878	NM_152783.5(D2HGDH):c.351-20C>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2012762	NM_152783.5(D2HGDH):c.351-18C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 733048	NM_152783.5(D2HGDH):c.351-8C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2008847	NM_152783.5(D2HGDH):c.357C>T (p.Cys119=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1954804	NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)	D2HGDH (N132fs)	Duplication (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
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 158419	NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria +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)	not provided +3 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 1853	NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser)	D2HGDH (I147S +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1701414	NM_152783.5(D2HGDH):c.445T>C (p.Ser149Pro)	D2HGDH (S149P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1554534	NM_152783.5(D2HGDH):c.447C>T (p.Ser149=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1036425	NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr)	D2HGDH (A151T +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335312	NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys)	D2HGDH (R152C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195703	NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)	D2HGDH (R152L +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GConflicting classifications of pathogenicity
Select item 1584832	NM_152783.5(D2HGDH):c.456C>A (p.Arg152=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 2200897	NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2159650	NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)	D2HGDH (S158G +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1591522	NM_152783.5(D2HGDH):c.477C>T (p.Phe159=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 853064	NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 726870	NM_152783.5(D2HGDH):c.490+9G>A	D2HGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528429	NM_152783.5(D2HGDH):c.490+16C>T	D2HGDH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1617117	NM_152783.5(D2HGDH):c.490+18G>A	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1600524	NM_152783.5(D2HGDH):c.490+20C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 158421	NM_152783.5(D2HGDH):c.490+40T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261627	NM_152783.5(D2HGDH):c.491-193T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600944	NM_152783.5(D2HGDH):c.491-18C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 2085655	NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)	D2HGDH (A170V +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 857572	NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)	D2HGDH (C38Y +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 750115	NM_152783.5(D2HGDH):c.516C>T (p.Cys172=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 432634	NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile)	D2HGDH (V173I +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GConflicting classifications of pathogenicity
Select item 3362676	NM_152783.5(D2HGDH):c.523G>T (p.Glu175Ter)	D2HGDH (E175* +1 more)	Single nucleotide variant (nonsense +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely pathogenic
Select item 1314083	NM_152783.5(D2HGDH):c.534_536dup (p.Arg179dup)	D2HGDH	Duplication (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 2106558	NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 871019	NM_152783.5(D2HGDH):c.540T>G (p.Tyr180Ter)	D2HGDH (Y180* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 335313	NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=)	D2HGDH	Single nucleotide variant (synonymous variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1015674	NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)	D2HGDH (E183D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 898351	NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)	D2HGDH (R184Q +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance
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 1919473	NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 335314	NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1413565	NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val)	D2HGDH (L5V +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1670509	NM_152783.5(D2HGDH):c.600C>T (p.Ile200=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1666864	NM_152783.5(D2HGDH):c.600C>A (p.Ile200=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 1360181	NM_152783.5(D2HGDH):c.601G>A (p.Gly201Arg)	D2HGDH (G14R +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
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 2197774	NM_152783.5(D2HGDH):c.609C>T (p.Asn203=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2420361	NM_152783.5(D2HGDH):c.615A>G (p.Ala205=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2055052	NM_152783.5(D2HGDH):c.621C>T (p.Asn207=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 898352	NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp)	D2HGDH (R78W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 572875	NM_152783.5(D2HGDH):c.642del (p.Arg215fs)	D2HGDH (R215fs +2 more)	Deletion (frameshift variant +1 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 2874433	NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)	D2HGDH (H86Y +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 662655	NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)	D2HGDH (H86R +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2028506	NM_152783.5(D2HGDH):c.669C>T (p.Val223=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 784673	NM_152783.5(D2HGDH):c.669C>G (p.Val223=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1544437	NM_152783.5(D2HGDH):c.675C>T (p.Gly225=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1908280	NM_152783.5(D2HGDH):c.684+9G>C	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1497986	NM_152783.5(D2HGDH):c.684+12C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1226874	NM_152783.5(D2HGDH):c.684+144T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271066	NM_152783.5(D2HGDH):c.685-132A>G	D2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023164	NM_152783.5(D2HGDH):c.685-20G>A	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1550545	NM_152783.5(D2HGDH):c.685-9_685-8inv	D2HGDH	Inversion (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 434885	NM_152783.5(D2HGDH):c.685-8G>A	D2HGDH	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1855	NM_152783.5(D2HGDH):c.685-2A>G	D2HGDH	Single nucleotide variant (splice acceptor variant)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 2993286	NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)	D2HGDH (V42M +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2187262	NM_152783.5(D2HGDH):c.693C>T (p.Ala231=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1538313	NM_152783.5(D2HGDH):c.696C>T (p.Asp232=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 898353	NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)	D2HGDH (G46S +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	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 942698	NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)	D2HGDH (T113M +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance
Select item 2060574	NM_152783.5(D2HGDH):c.741G>A (p.Thr247=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1397912	NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys)	D2HGDH (Y62C +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance

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