ClinVar for MedGen (Select 376653) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1670909	NM_024740.2(ALG9):c.132-16T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1648321	NM_024740.2(ALG9):c.789+11T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1625720	NM_024740.2(ALG9):c.132-14T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GBenign
Select item 1524100	NM_024740.2(ALG9):c.566-1G>A	ALG9	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 1325628	NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr)	ALG9 (F282Y +6 more)	Single nucleotide variant (missense variant +1 more)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GUncertain significance
Select item 1179143	NM_024740.2(ALG9):c.701+1G>A	ALG9	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 1134985	NM_024740.2(ALG9):c.405+7G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GLikely benign
Select item 1100636	NM_024740.2(ALG9):c.1314A>G (p.Ala438=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9-related disorder +2 more	GLikely benign
Select item 1042960	NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)	ALG9 (A348V +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
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 506455	NM_024740.2(ALG9):c.537C>T (p.Leu179=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9-related disorder +4 more	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 384997	NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely 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 379946	NM_024740.2(ALG9):c.1473-14T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign
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 +2 more	GBenign
Select item 166678	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)	ALG9 (P513L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +4 more	GBenign/Likely benign
Select item 162619	NM_024740.2(ALG9):c.1173+2T>A	ALG9	Single nucleotide variant (splice donor variant)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GConflicting classifications of pathogenicity
Select item 96136	NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)	ALG9 (S255L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 96135	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	ALG9 (A232P +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity

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Items: 21