C4693472[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709638	NM_024079.5(ALG8):c.1578A>G (p.Gln526=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +2 more	GLikely benign
Select item 284641	NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)	ALG8 (I503V)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 306211	NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)	ALG8 (Y487C)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 697999	NM_024079.5(ALG8):c.1443C>G (p.Thr481=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic liver disease 3 with or without kidney cysts +1 more	GLikely benign
Select item 306212	NM_024079.5(ALG8):c.1349+5T>C	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 664953	NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)	ALG8 (I431M)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 538563	NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)	ALG8 (I429V)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 704610	NM_024079.5(ALG8):c.1276+10G>A	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 773249	NM_024079.5(ALG8):c.1178+7A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 387426	NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)	ALG8 (S373P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 280116	NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	ALG8 (R364*)	Single nucleotide variant (nonsense)	See cases +4 more	GPathogenic/Likely pathogenic
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 306216	NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)	ALG8 (G300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 306217	NM_024079.5(ALG8):c.897C>T (p.Ile299=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 591515	NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser)	ALG8 (C277S)	Indel (missense variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GUncertain significance
Select item 2563	NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)	ALG8 (G275D)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 1437904	NM_024079.5(ALG8):c.802del (p.Arg268fs)	ALG8 (R268fs)	Deletion (frameshift variant)	ALG8 congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1372613	NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)	ALG8 (A258T)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 854540	NM_024079.5(ALG8):c.761dup (p.Pro255fs)	ALG8 (P255fs)	Duplication (frameshift variant)	ALG8 congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 2562	NM_024079.5(ALG8):c.673+4A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 1626529	NM_024079.5(ALG8):c.546+12T>G	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GLikely benign
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 881593	NM_024079.5(ALG8):c.382A>G (p.Ile128Val)	ALG8 (I128V)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 863568	NM_024079.5(ALG8):c.368+2T>G	ALG8	Single nucleotide variant (splice donor variant)	ALG8 congenital disorder of glycosylation +2 more	GLikely pathogenic
Select item 882745	NM_024079.5(ALG8):c.337A>G (p.Met113Val)	ALG8 (M113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1540921	NM_024079.5(ALG8):c.175-13A>G	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GLikely benign
Select item 1218011	NM_024079.5(ALG8):c.175-18C>A	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +2 more	GBenign/Likely benign
Select item 2561	NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)	ALG8 (T47P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GPathogenic
Select item 96090	NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)	ALG8 (R41*)	Single nucleotide variant (nonsense)	Polycystic liver disease 3 with or without kidney cysts +2 more	GPathogenic/Likely pathogenic
Select item 1589797	NM_024079.5(ALG8):c.95+16G>A	ALG8, LOC130006492	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1344961	NM_024079.5(ALG8):c.95+1G>A	ALG8	Single nucleotide variant (splice donor variant)	Polycystic liver disease 3 with or without kidney cysts +2 more	GLikely pathogenic
Select item 306229	NM_024079.5(ALG8):c.-7C>T	ALG8	Single nucleotide variant (5 prime UTR variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance

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Items: 32