"GeneDx"[submitter] AND "ALG9"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 384997	NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	Gillessen-Kaesbach-Nishimura syndrome +2 more	GBenign/Likely benign
Select item 704070	NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)	ALG9 (Y550H +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 523889	NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)	ALG9 (Q594* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GUncertain significance
Select item 1634940	NM_024740.2(ALG9):c.1762G>T (p.Val588Phe)	ALG9 (V369F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703589	NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)	ALG9 (R381W +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1254916	NM_024740.2(ALG9):c.1734-48A>G	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196261	NM_024740.2(ALG9):c.1733+240C>T	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263655	NM_024740.2(ALG9):c.1733+104GT[12]	ALG9	Microsatellite (intron variant)	not provided	GBenign
Select item 1259788	NM_024740.2(ALG9):c.1733+104GT[13]	ALG9	Microsatellite (intron variant)	not provided	GBenign
Select item 1211983	NM_024740.2(ALG9):c.1733+104GT[14]	ALG9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1326025	NM_024740.2(ALG9):c.1733+38G>C	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374733	NM_024740.2(ALG9):c.1659C>T (p.Pro553=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 235406	NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)	ALG9 (I535S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 166678	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)	ALG9 (P513L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 379946	NM_024740.2(ALG9):c.1473-14T>C	ALG9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 511378	NM_024740.2(ALG9):c.1470C>T (p.Asp490=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380142	NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 387910	NM_024740.2(ALG9):c.1365A>C (p.Arg455=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1314309	NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)	ALG9 (R236* +6 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 387747	NM_024740.2(ALG9):c.1356A>G (p.Glu452=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 697840	NM_024740.2(ALG9):c.1332C>T (p.His444=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 667513	NM_024740.2(ALG9):c.1325-11C>G	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296417	NM_024740.2(ALG9):c.1325-243A>C	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266070	NM_024740.2(ALG9):c.1324+304A>T	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514612	NM_024740.2(ALG9):c.1203C>T (p.Tyr401=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1197596	NM_024740.2(ALG9):c.1174-192C>T	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383272	NM_024740.2(ALG9):c.1149C>T (p.Gly383=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1188622	NM_024740.2(ALG9):c.1019-134G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195661	NM_024740.2(ALG9):c.1018+26G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390682	NM_024740.2(ALG9):c.945T>C (p.Asn315=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 383735	NM_024740.2(ALG9):c.896-3C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1321697	NM_024740.2(ALG9):c.896-32C>G	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265659	NM_024740.2(ALG9):c.896-124C>G	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710828	NM_024740.2(ALG9):c.896-153G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242163	NM_024740.2(ALG9):c.895+322T>C	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236482	NM_024740.2(ALG9):c.895+299del	ALG9	Deletion (intron variant)	not provided	GBenign
Select item 1188011	NM_024740.2(ALG9):c.895+119T>C	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379945	NM_024740.2(ALG9):c.865G>A (p.Val289Ile)	ALG9 (V289I +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GBenign
Select item 388350	NM_024740.2(ALG9):c.790-4T>C	ALG9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385426	NM_024740.2(ALG9):c.790-11C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 512394	NM_024740.2(ALG9):c.765G>A (p.Ser255=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 96136	NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)	ALG9 (S255L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 598383	NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)	ALG9 (R247S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1224635	NM_024740.2(ALG9):c.702-287G>C	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 96135	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	ALG9 (A232P +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 1203154	NM_024740.2(ALG9):c.566-92A>G	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506455	NM_024740.2(ALG9):c.537C>T (p.Leu179=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation +3 more	GLikely benign
Select item 682539	NM_024740.2(ALG9):c.477-15T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1194533	NM_024740.2(ALG9):c.476+109G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512411	NM_024740.2(ALG9):c.474C>T (p.Tyr158=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 96134	NM_024740.2(ALG9):c.406-7C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign
Select item 1235636	NM_024740.2(ALG9):c.405+117A>G	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390415	NM_024740.2(ALG9):c.405+8C>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 511693	NM_024740.2(ALG9):c.375A>G (p.Ala125=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2443125	NM_024740.2(ALG9):c.334C>T (p.Arg112Cys)	ALG9 (R112C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1292210	NM_024740.2(ALG9):c.271-80G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232337	NM_024740.2(ALG9):c.271-236dup	ALG9	Duplication (intron variant)	not provided	GBenign
Select item 1194489	NM_024740.2(ALG9):c.270+119dup	ALG9	Duplication (intron variant)	not provided	GLikely benign
Select item 507141	NM_024740.2(ALG9):c.219T>C (p.Ala73=)	ALG9	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
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 419307	NM_024740.2(ALG9):c.132-12dup	ALG9	Duplication (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 380165	NM_024740.2(ALG9):c.132-11C>T	ALG9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 380585	NM_024740.2(ALG9):c.132-12G>T	ALG9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 96133	NM_024740.2(ALG9):c.132-13T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign
Select item 380524	NM_024740.2(ALG9):c.132-18T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1234794	NM_024740.2(ALG9):c.132-50G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265496	NM_024740.2(ALG9):c.132-370A>G	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229789	NM_024740.2(ALG9):c.132-376G>A	ALG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296467	NM_024740.2(ALG9):c.131+185C>G	ALG9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2444680	NM_024740.2(ALG9):c.131+6T>G	ALG9, LOC130006752	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389995	NM_024740.2(ALG9):c.-11C>T	ALG9, LOC130006752	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388725	NM_024740.2(ALG9):c.-26C>T	ALG9, LOC130006752	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1242066	NC_000011.10:g.111871783dup	ALG9	Duplication	not provided	GBenign
Select item 1218987	NC_000011.10:g.111871782_111871783dup	ALG9	Duplication	not provided	GLikely benign
Select item 1254645	NC_000011.10:g.111871780_111871783del	ALG9	Deletion	not provided	GLikely benign
Select item 1187111	NC_000011.10:g.111871783del	ALG9	Deletion	not provided	GLikely benign

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Items: 77