79796[geneid] - ClinVar - NCBI

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	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 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 302367	NM_024740.2(ALG9):c.*4141G>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302368	NM_024740.2(ALG9):c.*3954del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 880091	NM_024740.2(ALG9):c.*3798A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 880092	NM_024740.2(ALG9):c.*3757T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 880093	NM_024740.2(ALG9):c.*3750A>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 302369	NM_024740.2(ALG9):c.*3519C>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 880094	NM_024740.2(ALG9):c.*3471A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302370	NM_024740.2(ALG9):c.3437_3440del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302371	NM_024740.2(ALG9):c.*3423T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302372	NM_024740.2(ALG9):c.*3358dup	ALG9	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 880095	NM_024740.2(ALG9):c.*3213G>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302373	NM_024740.2(ALG9):c.*3212C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 877291	NM_024740.2(ALG9):c.*3175G>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302374	NM_024740.2(ALG9):c.*3125A>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302375	NM_024740.2(ALG9):c.*3079C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302376	NM_024740.2(ALG9):c.*2907A>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302377	NM_024740.2(ALG9):c.*2743T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 877292	NM_024740.2(ALG9):c.*2648G>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 877293	NM_024740.2(ALG9):c.*2597G>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302378	NM_024740.2(ALG9):c.*2592T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302379	NM_024740.2(ALG9):c.2496_2500del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 302380	NM_024740.2(ALG9):c.2480_2481del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302381	NM_024740.2(ALG9):c.*2480del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302382	NM_024740.2(ALG9):c.*2479del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 302383	NM_024740.2(ALG9):c.2474_2475insT	ALG9	Insertion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 878327	NM_024740.2(ALG9):c.*2474A>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302384	NM_024740.2(ALG9):c.2473_2474insT	ALG9	Insertion (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302385	NM_024740.2(ALG9):c.*2473A>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 302386	NM_024740.2(ALG9):c.*2472T>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878328	NM_024740.2(ALG9):c.*2457G>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302387	NM_024740.2(ALG9):c.2451_2457del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302388	NM_024740.2(ALG9):c.*2456del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302389	NM_024740.2(ALG9):c.2444_2449del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302390	NM_024740.2(ALG9):c.*2444del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 878329	NM_024740.2(ALG9):c.*2443T>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302391	NM_024740.2(ALG9):c.*2442del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 878330	NM_024740.2(ALG9):c.*2414T>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878331	NM_024740.2(ALG9):c.*2342G>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302392	NM_024740.2(ALG9):c.*2339T>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878913	NM_024740.2(ALG9):c.*2287A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302393	NM_024740.2(ALG9):c.*2233A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302394	NM_024740.2(ALG9):c.*2230A>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302395	NM_024740.2(ALG9):c.*2114C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302396	NM_024740.2(ALG9):c.2010_2011del	ALG9	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302397	NM_024740.2(ALG9):c.*1977A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302398	NM_024740.2(ALG9):c.*1848G>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302399	NM_024740.2(ALG9):c.*1832A>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302400	NM_024740.2(ALG9):c.*1766A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 880135	NM_024740.2(ALG9):c.*1722C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302401	NM_024740.2(ALG9):c.*1687A>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302402	NM_024740.2(ALG9):c.*1681dup	ALG9	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 302404	NM_024740.2(ALG9):c.*1679dup	ALG9	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302403	NM_024740.2(ALG9):c.*1680G>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302405	NM_024740.2(ALG9):c.*1679del	ALG9	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 880136	NM_024740.2(ALG9):c.*1671T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GBenign
Select item 302406	NM_024740.2(ALG9):c.*1624A>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302407	NM_024740.2(ALG9):c.*1607C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302408	NM_024740.2(ALG9):c.*1536T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302409	NM_024740.2(ALG9):c.*1420C>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 877346	NM_024740.2(ALG9):c.*1311A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302410	NM_024740.2(ALG9):c.*1307C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 877347	NM_024740.2(ALG9):c.*1297A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302411	NM_024740.2(ALG9):c.*1220C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 302412	NM_024740.2(ALG9):c.*1211AGTT[1]	ALG9	Microsatellite (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 302413	NM_024740.2(ALG9):c.*971C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 302414	NM_024740.2(ALG9):c.*906C>A	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302415	NM_024740.2(ALG9):c.*823A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302416	NM_024740.2(ALG9):c.*788A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302417	NM_024740.2(ALG9):c.*773A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302418	NM_024740.2(ALG9):c.*763T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878370	NM_024740.2(ALG9):c.*726C>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302419	NM_024740.2(ALG9):c.*532C>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302420	NM_024740.2(ALG9):c.*523T>C	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 302421	NM_024740.2(ALG9):c.*365A>G	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3354837	NM_024740.2(ALG9):c.*323A>G	ALG9 (T447A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9-related disorder	GLikely benign
Select item 878371	NM_024740.2(ALG9):c.*314G>A	ALG9 (A444T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 302422	NM_024740.2(ALG9):c.*306G>A	ALG9 (R441Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878372	NM_024740.2(ALG9):c.*305C>T	ALG9 (R441W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302423	NM_024740.2(ALG9):c.*243G>A	ALG9	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302424	NM_024740.2(ALG9):c.*229A>G	ALG9	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 878961	NM_024740.2(ALG9):c.*77G>A	ALG9	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3353202	NM_024740.2(ALG9):c.*4C>T	ALG9	Single nucleotide variant (3 prime UTR variant +2 more)	ALG9-related disorder	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 3111433	NM_024740.2(ALG9):c.1819C>T (p.Arg607Trp)	ALG9 (R404W +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 377076	NM_024740.2(ALG9):c.1785T>C (p.Tyr595=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
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 1807449	NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)	ALG9 (F371L +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	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 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 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 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 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 2158098	NM_024740.2(ALG9):c.1734-15T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2143009	NM_024740.2(ALG9):c.1734-16dup	ALG9	Duplication (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 1254916	NM_024740.2(ALG9):c.1734-48A>G	ALG9	Single nucleotide variant (intron variant)	not provided	GLikely benign

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