ClinVar for Gene (Select 1650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271221	NM_005216.5(DDOST):c.7C>T (p.Pro3Ser)	DDOST (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271220	NM_005216.5(DDOST):c.1016A>G (p.Glu339Gly)	DDOST (E339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271219	NM_005216.5(DDOST):c.182C>T (p.Thr61Ile)	DDOST (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271217	NM_005216.5(DDOST):c.688C>A (p.Leu230Ile)	DDOST (L230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3080807	NM_005216.5(DDOST):c.641C>T (p.Thr214Ile)	DDOST (T214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080806	NM_005216.5(DDOST):c.625C>T (p.Pro209Ser)	DDOST (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080805	NM_005216.5(DDOST):c.299G>A (p.Ser100Asn)	DDOST (S100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058600	NM_005216.5(DDOST):c.3_4dup	DDOST	Duplication (3 prime UTR variant)	DDOST-related disorder	GLikely benign
Select item 3051734	NM_005216.5(DDOST):c.147C>T (p.Ser49=)	DDOST	Single nucleotide variant (synonymous variant)	DDOST-related disorder	GLikely benign
Select item 3048508	NM_005216.5(DDOST):c.66G>C (p.Ala22=)	DDOST	Single nucleotide variant (synonymous variant)	DDOST-related disorder	GLikely benign
Select item 3031509	NM_005216.5(DDOST):c.*10G>A	DDOST	Single nucleotide variant (3 prime UTR variant)	DDOST-related disorder	GLikely benign
Select item 3019775	NM_005216.5(DDOST):c.583C>G (p.Leu195Val)	DDOST (L195V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2999408	NM_005216.5(DDOST):c.656C>T (p.Ala219Val)	DDOST (A219V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2984364	NM_005216.5(DDOST):c.753C>T (p.Phe251=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2970362	NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)	DDOST (T58I)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2970110	NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)	DDOST (L230I)	Indel (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2970109	NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)	DDOST (A232S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 2916057	NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)	DDOST (P85L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2899317	NM_005216.5(DDOST):c.794+10A>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2898776	NM_005216.5(DDOST):c.795-3C>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2883147	NM_005216.5(DDOST):c.794+10A>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2878833	NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)	DDOST (F429L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2865033	NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)	DDOST (E2D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2857230	NM_005216.5(DDOST):c.462G>A (p.Thr154=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2848672	NM_005216.5(DDOST):c.-5G>A	DDOST	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2842633	NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2820511	NM_005216.5(DDOST):c.826G>A (p.Val276Met)	DDOST (V276M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2818218	NM_005216.5(DDOST):c.846del (p.Phe283fs)	DDOST (F283fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2792194	NM_005216.5(DDOST):c.24G>A (p.Arg8=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2778008	NM_005216.5(DDOST):c.551+17G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2766768	NM_005216.5(DDOST):c.456+4A>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2741559	NM_005216.5(DDOST):c.1064-5C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2740913	NM_005216.5(DDOST):c.1063+19C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2723676	NM_005216.5(DDOST):c.645+19T>C	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2699633	NM_005216.5(DDOST):c.154+5G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2695242	NM_005216.5(DDOST):c.618C>A (p.Ser206=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638437	NM_005216.5(DDOST):c.915C>A (p.Pro305=)	DDOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638436	NM_005216.5(DDOST):c.1181G>A (p.Arg394Gln)	DDOST (R394Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610712	NM_005216.5(DDOST):c.113A>G (p.Asn38Ser)	DDOST (N38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529301	NM_005216.5(DDOST):c.1024C>T (p.Arg342Cys)	DDOST (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500316	NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)	DDOST (I343T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2494485	NM_005216.4(DDOST):c.14G>A (p.Arg5Gln)	DDOST (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476260	NM_005216.5(DDOST):c.101T>C (p.Leu34Pro)	DDOST (L34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475481	NM_005216.5(DDOST):c.461C>T (p.Thr154Met)	DDOST (T154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2412230	NM_005216.5(DDOST):c.784G>A (p.Gly262Ser)	DDOST (G262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410680	NM_005216.5(DDOST):c.839G>A (p.Arg280His)	DDOST (R280H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 2373488	NM_005216.5(DDOST):c.1171G>A (p.Val391Ile)	DDOST (V391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336304	NM_005216.5(DDOST):c.653A>T (p.His218Leu)	DDOST (H218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329995	NM_005216.5(DDOST):c.14C>G (p.Thr5Ser)	DDOST (T5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282904	NM_005216.5(DDOST):c.1135C>T (p.Arg379Trp)	DDOST (R379W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270559	NM_005216.5(DDOST):c.-6A>G	DDOST	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2266178	NM_005216.5(DDOST):c.1216C>T (p.Pro406Ser)	DDOST (P406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258070	NM_005216.5(DDOST):c.1025G>A (p.Arg342His)	DDOST (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198382	NM_005216.5(DDOST):c.1177G>A (p.Val393Met)	DDOST (V393M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 2197302	NM_005216.5(DDOST):c.552-12G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2166946	NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)	DDOST (Y409C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2164693	NM_005216.5(DDOST):c.908C>T (p.Ala303Val)	DDOST (A303V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2161338	NM_005216.5(DDOST):c.795G>A (p.Arg265=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2154791	NM_005216.5(DDOST):c.942+13dup	DDOST	Duplication (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2151283	NM_005216.4(DDOST):c.16T>G (p.Cys6Gly)	DDOST	Single nucleotide variant	Congenital disorder of glycosylation type Ir +1 more	GConflicting classifications of pathogenicity
Select item 2149781	NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)	DDOST (A415T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 2146683	NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)	DDOST (R290C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2146675	NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)	DDOST (P28L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2144579	NM_005216.5(DDOST):c.1063+20G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2143013	NM_005216.5(DDOST):c.1218C>T (p.Pro406=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2142767	NM_005216.5(DDOST):c.900C>T (p.Gly300=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2130416	NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)	DDOST (S295F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2123255	NM_005216.5(DDOST):c.68T>G (p.Val23Gly)	DDOST (V23G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2118431	NM_005216.5(DDOST):c.154+14C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2106293	NM_005216.5(DDOST):c.154+7G>C	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2083172	NM_005216.5(DDOST):c.632A>T (p.Lys211Met)	DDOST (K211M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2074672	NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)	DDOST (I103T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2070810	NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)	DDOST (S407L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2069203	NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)	DDOST (I140T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2067162	NM_005216.5(DDOST):c.1171-7_1171-5del	DDOST	Microsatellite (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2057698	NM_005216.5(DDOST):c.1064-2A>C	DDOST	Single nucleotide variant (splice acceptor variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2056902	NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)	DDOST (P28S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2051195	NM_005216.5(DDOST):c.312C>T (p.Asp104=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2051182	NM_005216.5(DDOST):c.532A>G (p.Ile178Val)	DDOST (I178V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 2038749	NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)	DDOST (R280C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2038701	NM_005216.5(DDOST):c.399C>T (p.Asp133=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2030771	NM_005216.5(DDOST):c.942+15G>C	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2025045	NM_005216.5(DDOST):c.579G>A (p.Leu193=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2019684	NM_005216.5(DDOST):c.897G>A (p.Val299=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2012296	NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)	DDOST (N79K)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2011265	NM_005216.5(DDOST):c.534C>T (p.Ile178=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2006426	NM_005216.5(DDOST):c.132G>T (p.Ser44=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2005251	NM_005216.5(DDOST):c.352+2T>C	DDOST	Single nucleotide variant (splice donor variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1985530	NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)	DDOST (N93S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1985048	NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)	DDOST (F429del)	Microsatellite (inframe_deletion)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1966450	NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)	DDOST (P209L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1965217	NM_005216.5(DDOST):c.63C>T (p.Gly21=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1955756	NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)	DDOST (F404L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1954867	NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)	DDOST (I94F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1951764	NM_005216.5(DDOST):c.1263G>C (p.Gly421=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign

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