ClinVar for MedGen (Select 482714) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 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 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	KIF17, LDLRAD2 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2410680	NM_005216.5(DDOST):c.839G>A (p.Arg280His)	DDOST (R280H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 +1 more	GConflicting classifications of pathogenicity
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	GLikely benign
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)	Congenital disorder of glycosylation type Ir	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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2038749	NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)	DDOST (R280C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	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
Select item 1949843	NM_005216.5(DDOST):c.331G>A (p.Val111Ile)	DDOST (V111I)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1947697	NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)	DDOST (C128G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1946267	NM_005216.5(DDOST):c.1171-9C>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1925997	NM_005216.5(DDOST):c.287T>C (p.Val96Ala)	DDOST (V96A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1924179	NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)	DDOST (P212L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1917953	NM_005216.5(DDOST):c.457-9T>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1717499	NM_005216.5(DDOST):c.1151A>G (p.His384Arg)	DDOST (H384R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1667371	NM_005216.5(DDOST):c.111C>T (p.Leu37=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1621599	NM_005216.5(DDOST):c.551+11G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1611408	NM_005216.5(DDOST):c.1305G>A (p.Lys435=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1607123	NM_005216.5(DDOST):c.540T>C (p.Phe180=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1589042	NM_005216.5(DDOST):c.552-13C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1579112	NM_005216.5(DDOST):c.894G>C (p.Arg298=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1569916	NM_005216.5(DDOST):c.207C>T (p.Leu69=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1555835	NM_005216.5(DDOST):c.1098C>T (p.Asp366=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1546969	NM_005216.5(DDOST):c.1206G>A (p.Glu402=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1539225	NM_005216.5(DDOST):c.154+19G>C	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GBenign
Select item 1533602	NM_005216.5(DDOST):c.468C>T (p.Ile156=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1522835	NM_005216.5(DDOST):c.119G>A (p.Arg40Gln)	DDOST (R40Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1507911	NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del)	DDOST (F252del)	Microsatellite (inframe_deletion)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1493215	NM_005216.5(DDOST):c.154G>A (p.Asp52Asn)	DDOST (D52N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1483950	NM_005216.5(DDOST):c.-18T>G	DDOST	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1480156	NM_005216.5(DDOST):c.167A>G (p.Glu56Gly)	DDOST (E56G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1479323	NM_005216.5(DDOST):c.752T>C (p.Phe251Ser)	DDOST (F251S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1460715	NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)	DDOST (S11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1454654	NM_005216.5(DDOST):c.646-14C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1449294	NM_005216.5(DDOST):c.10A>G (p.Ser4Gly)	DDOST (S4G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1445368	NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del)	DDOST (K354del)	Microsatellite (inframe_deletion)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1441109	NM_005216.5(DDOST):c.427C>G (p.His143Asp)	DDOST (H143D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1440690	NM_005216.5(DDOST):c.869G>T (p.Arg290Leu)	DDOST (R290L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance

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