ClinVar for Gene (Select 79796) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066316	NM_024740.2(ALG9):c.65_66insTC (p.Ala23fs)	ALG9, LOC130006752 (A23fs)	Insertion (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 3065733	NM_024740.2(ALG9):c.430T>C (p.Cys144Arg)	ALG9 (C144R)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3046547	NM_024740.2(ALG9):c.131+6T>A	ALG9, LOC130006752	Single nucleotide variant (intron variant)	ALG9-related condition	GUncertain significance
Select item 3030560	NM_024740.2(ALG9):c.171A>G (p.Glu57=)	ALG9	Single nucleotide variant (synonymous variant +3 more)	ALG9-related condition	GLikely benign
Select item 3029585	NM_024740.2(ALG9):c.259T>C (p.Tyr87His)	ALG9 (Y87H)	Single nucleotide variant (missense variant +3 more)	ALG9-related condition	GLikely benign
Select item 3015300	NM_024740.2(ALG9):c.702-9_702-8del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3000528	NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)	ALG9 (Y587C +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2996992	NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)	ALG9 (R469Q +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2981000	NM_024740.2(ALG9):c.131+10C>T	ALG9, LOC130006752	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2977425	NM_024740.2(ALG9):c.131+7G>C	ALG9, LOC130006752	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2911117	NM_024740.2(ALG9):c.1734-17del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2883144	NM_024740.2(ALG9):c.294A>G (p.Glu98=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2879875	NM_024740.2(ALG9):c.132-20T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2869658	NM_024740.2(ALG9):c.271-10G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2820997	NM_024740.2(ALG9):c.846C>T (p.Leu282=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2798204	NM_024740.2(ALG9):c.1324+10C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2788235	NM_024740.2(ALG9):c.405+9A>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2707187	NM_024740.2(ALG9):c.270+17G>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642367	NM_024740.2(ALG9):c.684A>G (p.Pro228=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642366	NM_024740.2(ALG9):c.912T>C (p.Tyr304=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2633266	NM_024740.2(ALG9):c.522del (p.Ala175fs)	ALG9 (A175fs +1 more)	Deletion (frameshift variant +2 more)	ALG9-related condition	GLikely pathogenic
Select item 2630869	NM_024740.2(ALG9):c.1166C>A (p.Ala389Glu)	ALG9 (A177E +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9-related condition	GUncertain significance
Select item 2624204	NM_024740.2(ALG9):c.64C>G (p.Pro22Ala)	ALG9, LOC130006752 (P22A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444680	NM_024740.2(ALG9):c.131+6T>G	ALG9, LOC130006752	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2443125	NM_024740.2(ALG9):c.334C>T (p.Arg112Cys)	ALG9 (R112C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2443122	NM_024740.2(ALG9):c.1225del (p.Arg409fs)	ALG9 (R190fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2441642	NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)	ALG9 (Y110C +2 more)	Single nucleotide variant (missense variant +2 more)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GUncertain significance
Select item 2429663	NM_024740.2(ALG9):c.132G>T (p.Glu44Asp)	ALG9 (E44D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2426878	NC_000011.9:g.(?_111657121)_(111922093_?)del	ALG9, C11orf52 +6 more	Deletion	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 2413262	NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)	ALG9 (A366T +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2333068	NM_024740.2(ALG9):c.1549C>T (p.Arg517Trp)	ALG9 (R298W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199419	NM_024740.2(ALG9):c.1174-5A>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2189674	NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)	ALG9 (P69S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2182290	NM_024740.2(ALG9):c.1567A>G (p.Met523Val)	ALG9 (M304V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2180569	NM_024740.2(ALG9):c.132-13_132-12insTTG	ALG9	Insertion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2177225	NM_024740.2(ALG9):c.482T>C (p.Val161Ala)	ALG9 (V161A)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2170861	NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)	ALG9 (D296E +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2168253	NM_024740.2(ALG9):c.132-13del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2166814	NM_024740.2(ALG9):c.1431A>G (p.Lys477=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2163041	NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2158098	NM_024740.2(ALG9):c.1734-15T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2149221	NM_024740.2(ALG9):c.1320C>T (p.Phe440=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9-related condition +1 more	GLikely benign
Select item 2149220	NM_024740.2(ALG9):c.1500G>A (p.Glu500=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9-related condition +1 more	GLikely benign
Select item 2149216	NM_024740.2(ALG9):c.966C>T (p.Leu322=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2147839	NM_024740.2(ALG9):c.1733+9C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2147528	NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)	ALG9 (R266K +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2147429	NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)	ALG9 (T3S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2147010	NM_024740.2(ALG9):c.1733+19A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2143973	NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)	ALG9 (T283I +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2143009	NM_024740.2(ALG9):c.1734-16dup	ALG9	Duplication (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2140708	NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)	ALG9 (R388Q +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2138826	NM_024740.2(ALG9):c.1212G>T (p.Val404=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2121533	NM_024740.2(ALG9):c.114C>G (p.Gly38=)	ALG9, LOC130006752	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2120195	NM_024740.2(ALG9):c.131+1G>C	ALG9, LOC130006752	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2110654	NM_024740.2(ALG9):c.222C>T (p.Leu74=)	ALG9	Single nucleotide variant (synonymous variant +3 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2110576	NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)	ALG9 (R247G +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2110275	NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)	ALG9 (M354L +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2110229	NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)	ALG9 (I147M +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2106604	NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)	ALG9 (P418A +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2106007	NM_024740.2(ALG9):c.141G>A (p.Gly47=)	ALG9	Single nucleotide variant (synonymous variant +3 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2091484	NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)	ALG9, LOC130006752 (R4Q)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2090307	NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)	ALG9 (R252L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2086914	NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)	ALG9 (W248* +2 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2083065	NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)	ALG9 (D271V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2079546	NM_024740.2(ALG9):c.27C>T (p.Arg9=)	ALG9, LOC130006752	Single nucleotide variant (5 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2076377	NM_024740.2(ALG9):c.1644C>G (p.Thr548=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2072947	NM_024740.2(ALG9):c.546C>A (p.Gly182=)	ALG9	Single nucleotide variant (non-coding transcript variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2072062	NM_024740.2(ALG9):c.1325-17A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2064260	NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)	ALG9 (I332T +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2048922	NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)	ALG9 (N383S +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2018359	NM_024740.2(ALG9):c.360T>C (p.His120=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2017320	NM_024740.2(ALG9):c.279C>T (p.Tyr93=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2014845	NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)	ALG9 (P273R +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2014762	NM_024740.2(ALG9):c.754_757del (p.Phe252fs)	ALG9 (F252fs +2 more)	Microsatellite (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2011582	NM_024740.2(ALG9):c.1296dup (p.Phe433fs)	ALG9 (F433fs +6 more)	Duplication (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2010069	NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)	ALG9 (G294R +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2008761	NM_024740.2(ALG9):c.1197A>G (p.Lys399=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2007716	NM_024740.2(ALG9):c.896-2A>G	ALG9	Single nucleotide variant (splice acceptor variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2002253	NM_024740.2(ALG9):c.1173+18G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2000304	NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)	ALG9 (A35T +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1999727	NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)	ALG9 (R314T +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1992242	NM_024740.2(ALG9):c.1317G>C (p.Leu439=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1988371	NM_024740.2(ALG9):c.1018+19G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 1971558	NM_024740.2(ALG9):c.1645A>G (p.Met549Val)	ALG9 (M330V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1959895	NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)	ALG9 (S393R +1 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1957063	NM_024740.2(ALG9):c.1174-19T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1949385	NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)	ALG9 (H168Y +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1949128	NM_024740.2(ALG9):c.790-20T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1940077	NM_024740.2(ALG9):c.132-19T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1932191	NM_024740.2(ALG9):c.414G>A (p.Val138=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1925558	NM_024740.2(ALG9):c.1324+6T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807449	NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)	ALG9 (F371L +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1717721	NM_024740.2(ALG9):c.910T>C (p.Tyr304His)	ALG9 (Y108H +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1710828	NM_024740.2(ALG9):c.896-153G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic

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