ClinVar for MedGen (Select 376653) - ClinVar

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Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24416421.	NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys) GRCh37: Chr11:111715425 GRCh38: Chr11:111844702	ALG9	Y110C, Y135C, Y306C	Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 16709092.	NM_024740.2(ALG9):c.132-16T>G GRCh37: Chr11:111741109 GRCh38: Chr11:111870386	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16483213.	NM_024740.2(ALG9):c.789+11T>G GRCh37: Chr11:111724361 GRCh38: Chr11:111853638	ALG9		Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16257204.	NM_024740.2(ALG9):c.132-14T>G GRCh37: Chr11:111741107 GRCh38: Chr11:111870384	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15241005.	NM_024740.2(ALG9):c.566-1G>A GRCh37: Chr11:111728461 GRCh38: Chr11:111857738	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Likely pathogenic (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13256286.	NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) GRCh37: Chr11:111706988 GRCh38: Chr11:111836265	ALG9	F282Y, F298Y, F323Y, F330Y, F453Y, F494Y, F501Y	ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Uncertain significance (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11791437.	NM_024740.2(ALG9):c.701+1G>A GRCh37: Chr11:111728324 GRCh38: Chr11:111857601	ALG9		Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 11349858.	NM_024740.2(ALG9):c.405+7G>A GRCh37: Chr11:111739318 GRCh38: Chr11:111868595	ALG9		ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11006369.	NM_024740.2(ALG9):c.1314A>G (p.Ala438=) GRCh37: Chr11:111708982 GRCh38: Chr11:111838259	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104296010.	NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) GRCh37: Chr11:111711385 GRCh38: Chr11:111840662	ALG9	A348V, A193V, A389V, A177V, A218V	Inborn genetic diseases, ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59838311.	NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) GRCh37: Chr11:111724420 GRCh38: Chr11:111853697	ALG9	R247S, R51S, R76S	ALG9 congenital disorder of glycosylation, ALG9-related condition, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, not provided	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50645512.	NM_024740.2(ALG9):c.537C>T (p.Leu179=) GRCh37: Chr11:111731298 GRCh38: Chr11:111860575	ALG9		not specified, not provided, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39068213.	NM_024740.2(ALG9):c.945T>C (p.Asn315=) GRCh37: Chr11:111715397 GRCh38: Chr11:111844674	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, not provided, not specified, ALG9 congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38499714.	NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) GRCh37: Chr11:111657184 GRCh38: Chr11:111786460	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38327215.	NM_024740.2(ALG9):c.1149C>T (p.Gly383=) GRCh37: Chr11:111711402 GRCh38: Chr11:111840679	ALG9		not specified, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome	Likely benign (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37994616.	NM_024740.2(ALG9):c.1473-14T>C GRCh37: Chr11:111707031 GRCh38: Chr11:111836308	ALG9		ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, not specified	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37994517.	NM_024740.2(ALG9):c.865G>A (p.Val289Ile) GRCh37: Chr11:111724133 GRCh38: Chr11:111853410	ALG9	V289I, V93I, V118I	not specified, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16667818.	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) GRCh37: Chr11:111706952 GRCh38: Chr11:111836229	ALG9	P513L, P342L, P465L, P506L, P294L, P310L, P335L	not provided, ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, not specified	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16261919.	NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] GRCh37: Chr11:111711376 GRCh38: Chr11:111840653	ALG9		Gillessen-Kaesbach-Nishimura syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 9613620.	NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) GRCh37: Chr11:111724397 GRCh38: Chr11:111853674	ALG9	S255L, S84L, S59L	Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, not specified, not provided, ALG9 congenital disorder of glycosylation	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9613521.	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) GRCh37: Chr11:111728332 GRCh38: Chr11:111857609	ALG9	A232P, A36P, A61P	Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, not provided, ALG9 congenital disorder of glycosylation, See cases	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations

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Items: 21