ClinVar for Gene (Select 728294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3058454	NM_152783.5(D2HGDH):c.1050C>T (p.Asp350=)	D2HGDH	Single nucleotide variant (synonymous variant)	D2HGDH-related condition	GLikely benign
Select item 3032094	NM_152783.5(D2HGDH):c.915G>A (p.Glu305=)	D2HGDH	Single nucleotide variant (synonymous variant)	D2HGDH-related condition	GLikely benign
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 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 3009414	NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)	D2HGDH (G117D +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
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 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 2960308	NM_152783.5(D2HGDH):c.1284C>T (p.His428=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2896905	NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2890748	NM_152783.5(D2HGDH):c.1302C>T (p.His434=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 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 2793670	NM_152783.5(D2HGDH):c.1398C>A (p.Ala466=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 2771379	NM_152783.5(D2HGDH):c.854-19A>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 2742701	NM_152783.5(D2HGDH):c.1422G>A (p.Ala474=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2732695	NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)	D2HGDH (I206V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2730125	NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)	D2HGDH (P196L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
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 2709684	NM_152783.5(D2HGDH):c.998-7C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2683846	NM_152783.5(D2HGDH):c.1015C>T (p.Leu339Phe)	D2HGDH (L152F +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1	Gnot provided
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	GUncertain significance
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2600457	NM_152783.5(D2HGDH):c.1229G>A (p.Arg410Gln)	D2HGDH (R223Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2597877	NM_152783.5(D2HGDH):c.1475C>T (p.Pro492Leu)	D2HGDH (P305L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2549743	NM_152783.5(D2HGDH):c.1474C>G (p.Pro492Ala)	D2HGDH (P305A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427965	NM_152783.5(D2HGDH):c.1038C>T (p.Asn346=)	D2HGDH	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2427420	NC_000002.11:g.(?_242707105)_(242707384_?)dup	D2HGDH	Duplication	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2427419	NC_000002.11:g.(?_242680425)_(242684312_?)del	D2HGDH	Deletion	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2427418	NC_000002.11:g.(?_242707105)_(242707384_?)del	D2HGDH	Deletion	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 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 (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2311148	NM_152783.5(D2HGDH):c.808A>G (p.Ile270Val)	D2HGDH (I270V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309248	NM_152783.5(D2HGDH):c.973C>G (p.Leu325Val)	D2HGDH (L325V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242582	NM_152783.5(D2HGDH):c.994C>G (p.Gln332Glu)	D2HGDH (Q145E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2203300	NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)	D2HGDH (G436V +2 more)	Single nucleotide variant (missense variant +1 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 2198519	NM_152783.5(D2HGDH):c.1266C>T (p.Leu422=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 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	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 +1 more	GLikely benign
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 2179395	NM_152783.5(D2HGDH):c.1152C>A (p.Ala384=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 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 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 2151966	NM_152783.5(D2HGDH):c.1114A>G (p.Met372Val)	D2HGDH (M238V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2149868	NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)	D2HGDH	Single nucleotide variant (non-coding transcript variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2148942	NM_152783.5(D2HGDH):c.1419C>T (p.Ser473=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2143382	NM_152783.5(D2HGDH):c.997+13C>G	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2140724	NM_152783.5(D2HGDH):c.1356G>A (p.Ser452=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D2HGDH-related condition +1 more	GLikely benign
Select item 2139589	NM_152783.5(D2HGDH):c.1271C>T (p.Pro424Leu)	D2HGDH (P424L +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2106760	NM_152783.5(D2HGDH):c.1239C>T (p.Asp413=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2106559	NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)	D2HGDH (V281L +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2106558	NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +2 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 2085855	NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)	D2HGDH (Q312E +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2085655	NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)	D2HGDH (A170V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
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 2081223	NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)	D2HGDH (G322C +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2078518	NM_152783.5(D2HGDH):c.997+8C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2078258	NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2071147	NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)	D2HGDH (L308F +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2068249	NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)	D2HGDH (T267M +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 2060846	NM_152783.5(D2HGDH):c.1401G>A (p.Gly467=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 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 2059066	NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)	D2HGDH (T331M +2 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
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 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 2014046	NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)	D2HGDH (F162fs +2 more)	Insertion (frameshift variant)	D-2-hydroxyglutaric aciduria 1	GPathogenic
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 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 2007731	NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)	D2HGDH (T298S +2 more)	Single nucleotide variant (missense variant)	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 1980664	NM_152783.5(D2HGDH):c.1141-15C>T	D2HGDH	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 1966263	NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1965886	NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)	D2HGDH (V6I +1 more)	Single nucleotide variant (missense variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GUncertain significance
Select item 1958055	NM_152783.5(D2HGDH):c.1140+19G>T	D2HGDH	Single nucleotide variant (intron variant)	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 1943672	NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)	D2HGDH	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
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 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 1927689	NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)	D2HGDH	Duplication (inframe_insertion)	D-2-hydroxyglutaric aciduria 1	GUncertain significance

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