"ALG8-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882709	NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)	ALG8 (A506T)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 715356	NM_024079.5(ALG8):c.1506C>T (p.Gly502=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2631013	NM_024079.5(ALG8):c.1388A>G (p.Tyr463Cys)	ALG8 (T313A +20 more)	Single nucleotide variant (missense variant +1 more)	ALG8-related disorder	GUncertain significance
Select item 2050026	NM_024079.5(ALG8):c.1356A>G (p.Glu452=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 3031593	NM_024079.5(ALG8):c.1329G>A (p.Ser443=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related disorder	GLikely benign
Select item 1160384	NM_024079.5(ALG8):c.1277-10_1277-8del	ALG8	Deletion (intron variant)	ALG8-related disorder +1 more	GLikely benign
Select item 704610	NM_024079.5(ALG8):c.1276+10G>A	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 2181408	NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)	ALG8 (P425Q)	Single nucleotide variant (missense variant)	ALG8-related disorder +1 more	GUncertain significance
Select item 3032354	NM_024079.5(ALG8):c.1212G>A (p.Ser404=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related disorder	GLikely benign
Select item 956334	NM_024079.5(ALG8):c.981dup (p.Val328fs)	ALG8 (V328fs)	Duplication (frameshift variant)	ALG8-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2978547	NM_024079.5(ALG8):c.898+10C>T	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 3029430	NM_024079.5(ALG8):c.898+9G>A	ALG8	Single nucleotide variant (intron variant)	ALG8-related disorder	GLikely benign
Select item 740025	NM_024079.5(ALG8):c.898+8A>G	ALG8	Single nucleotide variant (intron variant)	ALG8-related disorder +1 more	GLikely benign
Select item 701919	NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)	ALG8 (N290S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2628603	NM_024079.5(ALG8):c.777+1G>A	ALG8	Single nucleotide variant (splice donor variant)	ALG8-related disorder	GLikely pathogenic
Select item 306220	NM_024079.5(ALG8):c.675T>C (p.Asp225=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 492977	NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	ALG8 (R179*)	Single nucleotide variant (nonsense)	ALG8-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 752216	NM_024079.5(ALG8):c.459C>T (p.Phe153=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 306224	NM_024079.5(ALG8):c.441A>T (p.Val147=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3049086	NM_024079.5(ALG8):c.428T>G (p.Phe143Cys)	ALG8 (F138C +5 more)	Single nucleotide variant (missense variant)	ALG8-related disorder	GUncertain significance
Select item 252504	NM_024079.5(ALG8):c.369-6A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 2718349	NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)	ALG8 (R123C +4 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3031497	NM_024079.5(ALG8):c.327C>T (p.Ser109=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related disorder	GLikely benign
Select item 3049453	NM_024079.5(ALG8):c.258T>C (p.Asp86=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related disorder	GLikely benign
Select item 306226	NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)	ALG8 (Y84C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3043654	NM_024079.5(ALG8):c.104C>T (p.Thr35Ile)	ALG8 (T35I +1 more)	Single nucleotide variant (missense variant)	ALG8-related disorder	GUncertain significance

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Items: 26