24862[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 967300	NM_006302.3(MOGS):c.2513G>T (p.Ter838Leu)	MOGS	Single nucleotide variant (stop lost)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1505413	NM_006302.3(MOGS):c.2509T>C (p.Tyr837His)	MOGS (Y731H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 848556	NM_006302.3(MOGS):c.2505A>C (p.Glu835Asp)	MOGS (E729D +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 638889	NM_006302.3(MOGS):c.2500del (p.Ala834fs)	MOGS (A834fs +1 more)	Deletion (frameshift variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2063955	NM_006302.3(MOGS):c.2493G>A (p.Leu831=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 573235	NM_006302.3(MOGS):c.2476A>G (p.Thr826Ala)	MOGS (T826A +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2174865	NM_006302.3(MOGS):c.2471G>A (p.Gly824Asp)	MOGS (G718D +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1369722	NM_006302.3(MOGS):c.2470G>A (p.Gly824Ser)	MOGS (G824S +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1987771	NM_006302.3(MOGS):c.2469C>T (p.His823=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2419669	NM_006302.3(MOGS):c.2458C>T (p.Arg820Cys)	MOGS (R714C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 659437	NM_006302.3(MOGS):c.2444G>A (p.Arg815Gln)	MOGS (R709Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1083956	NM_006302.3(MOGS):c.2443C>A (p.Arg815=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1631882	NM_006302.3(MOGS):c.2436C>T (p.Arg812=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 197276	NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys)	MOGS (R812C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2200844	NM_006302.3(MOGS):c.2422C>T (p.Gln808Ter)	MOGS (Q702* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 962091	NM_006302.3(MOGS):c.2422C>A (p.Gln808Lys)	MOGS (Q702K +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1009097	NM_006302.3(MOGS):c.2398C>T (p.Gln800Ter)	MOGS (Q694* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 3054660	NM_006302.3(MOGS):c.2394G>A (p.Gln798=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-related disorder	GLikely benign
Select item 970153	NM_006302.3(MOGS):c.2390G>A (p.Arg797His)	MOGS (R691H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1522887	NM_006302.3(MOGS):c.2389C>T (p.Arg797Cys)	MOGS (R797C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1357107	NM_006302.3(MOGS):c.2386T>C (p.Trp796Arg)	MOGS (W690R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 749385	NM_006302.3(MOGS):c.2385A>G (p.Val795=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1362121	NM_006302.3(MOGS):c.2375T>C (p.Val792Ala)	MOGS (V686A +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 794099	NM_006302.3(MOGS):c.2370C>T (p.Asn790=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3194306	NM_006302.3(MOGS):c.2369A>G (p.Asn790Ser)	MOGS (N790S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 964815	NM_006302.3(MOGS):c.2363G>A (p.Arg788His)	MOGS (R788H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1478183	NM_006302.3(MOGS):c.2362C>T (p.Arg788Cys)	MOGS (R682C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2962026	NM_006302.3(MOGS):c.2361C>T (p.Leu787=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 337104	NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser)	MOGS (G785S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2903388	NM_006302.3(MOGS):c.2352C>T (p.His784=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2053892	NM_006302.3(MOGS):c.2346A>G (p.Lys782=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 964787	NM_006302.3(MOGS):c.2345A>G (p.Lys782Arg)	MOGS (K676R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2577770	NM_006302.3(MOGS):c.2338G>A (p.Ala780Thr)	MOGS (A674T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382421	NM_006302.3(MOGS):c.2336G>A (p.Arg779Gln)	MOGS (R779Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1921852	NM_006302.3(MOGS):c.2332G>A (p.Ala778Thr)	MOGS (A672T +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2148586	NM_006302.3(MOGS):c.2321G>T (p.Gly774Val)	MOGS (G774V +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 650403	NM_006302.3(MOGS):c.2314C>A (p.Leu772Met)	MOGS (L666M +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 3054824	NM_006302.3(MOGS):c.2313T>C (p.His771=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-related disorder	GLikely benign
Select item 1130149	NM_006302.3(MOGS):c.2310G>A (p.Gly770=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2506426	NM_006302.3(MOGS):c.2305T>C (p.Tyr769His)	MOGS (Y663H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 1532139	NM_006302.3(MOGS):c.2298C>T (p.Leu766=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3295529	NM_006302.3(MOGS):c.2291G>A (p.Gly764Glu)	MOGS (G658E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3009240	NM_006302.3(MOGS):c.2283G>A (p.Leu761=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1485896	NM_006302.3(MOGS):c.2270A>G (p.Asn757Ser)	MOGS (N651S +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 855159	NM_006302.3(MOGS):c.2264G>T (p.Trp755Leu)	MOGS (W649L +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2155821	NM_006302.3(MOGS):c.2252G>A (p.Arg751Gln)	MOGS (R645Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 534241	NM_006302.3(MOGS):c.2243C>A (p.Pro748His)	MOGS (P748H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2023584	NM_006302.3(MOGS):c.2235T>C (p.His745=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2488710	NM_006302.3(MOGS):c.2228C>T (p.Ser743Leu)	MOGS (S637L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970225	NM_006302.3(MOGS):c.2228C>G (p.Ser743Ter)	MOGS (S743* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1352439	NM_006302.3(MOGS):c.2227T>G (p.Ser743Ala)	MOGS (S637A +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 652717	NM_006302.3(MOGS):c.2224A>C (p.Asn742His)	MOGS (N742H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1803625	NM_006302.3(MOGS):c.2218C>T (p.Gln740Ter)	MOGS (Q634* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2817337	NM_006302.3(MOGS):c.2217C>T (p.Gly739=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2062167	NM_006302.3(MOGS):c.2213A>G (p.Tyr738Cys)	MOGS (Y738C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1585586	NM_006302.3(MOGS):c.2211T>C (p.Phe737=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2742149	NM_006302.3(MOGS):c.2205C>T (p.Ser735=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1629162	NM_006302.3(MOGS):c.2199C>A (p.Ala733=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1145501	NM_006302.3(MOGS):c.2196A>G (p.Ala732=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1158016	NM_006302.3(MOGS):c.2190C>T (p.Ser730=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1402443	NM_006302.3(MOGS):c.2185C>G (p.Arg729Gly)	MOGS (R623G +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1556782	NM_006302.3(MOGS):c.2175C>T (p.Pro725=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2558313	NM_006302.3(MOGS):c.2171G>A (p.Ser724Asn)	MOGS (S618N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1150525	NM_006302.3(MOGS):c.2166C>G (p.Leu722=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2959427	NM_006302.3(MOGS):c.2160C>T (p.Arg720=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 648514	NM_006302.3(MOGS):c.2158C>T (p.Arg720Cys)	MOGS (R614C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1346525	NM_006302.3(MOGS):c.2157C>A (p.Ser719Arg)	MOGS (S613R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1082718	NM_006302.3(MOGS):c.2154C>T (p.Asp718=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1039485	NM_006302.3(MOGS):c.2154C>A (p.Asp718Glu)	MOGS (D718E +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1351613	NM_006302.3(MOGS):c.2152G>A (p.Asp718Asn)	MOGS (D612N +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1576763	NM_006302.3(MOGS):c.2151C>T (p.Ala717=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1354556	NM_006302.3(MOGS):c.2138T>C (p.Leu713Pro)	MOGS (L713P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1650070	NM_006302.3(MOGS):c.2127T>C (p.Leu709=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2694954	NM_006302.3(MOGS):c.2124C>T (p.Arg708=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 534240	NM_006302.3(MOGS):c.2123G>A (p.Arg708His)	MOGS (R708H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1979856	NM_006302.3(MOGS):c.2122C>T (p.Arg708Cys)	MOGS (R708C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2177182	NM_006302.3(MOGS):c.2115C>T (p.Thr705=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 465840	NM_006302.3(MOGS):c.2112C>T (p.Pro704=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GBenign/Likely benign
Select item 3007505	NM_006302.3(MOGS):c.2101C>T (p.Leu701=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3011954	NM_006302.3(MOGS):c.2099G>A (p.Arg700Gln)	MOGS (R700Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2075980	NM_006302.3(MOGS):c.2097G>T (p.Leu699=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1658378	NM_006302.3(MOGS):c.2094G>A (p.Leu698=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1035294	NM_006302.3(MOGS):c.2090T>C (p.Leu697Ser)	MOGS (L697S +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1124781	NM_006302.3(MOGS):c.2088C>T (p.Pro696=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3194184	NM_006302.3(MOGS):c.2077A>C (p.Ser693Arg)	MOGS (S587R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 565682	NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr)	MOGS (A688T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281500	NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1550361	NM_006302.3(MOGS):c.2052G>A (p.Gln684=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2071337	NM_006302.3(MOGS):c.2051A>C (p.Gln684Pro)	MOGS (Q684P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1093189	NM_006302.3(MOGS):c.2049G>A (p.Leu683=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1518373	NM_006302.3(MOGS):c.2033G>T (p.Arg678Leu)	MOGS (R572L +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 660102	NM_006302.3(MOGS):c.2033G>A (p.Arg678Gln)	MOGS (R678Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 337105	NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp)	MOGS (R678W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3295532	NM_006302.3(MOGS):c.2030G>C (p.Gly677Ala)	MOGS (G571A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354509	NM_006302.3(MOGS):c.2029G>C (p.Gly677Arg)	MOGS (G571R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979780	NM_006302.3(MOGS):c.2021G>C (p.Arg674Pro)	MOGS (R674P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance

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