C0349653[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 863725	NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)	PMM2 (G5D)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 739025	NM_000303.3(PMM2):c.24C>G (p.Leu8=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 188744	NM_000303.3(PMM2):c.24del (p.Cys9fs)	PMM2 (C9fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 664093	NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)	PMM2 (T18P)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 521048	NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	PMM2 (T18S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 550661	NM_000303.3(PMM2):c.66+1del	PMM2	Deletion (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 632948	NM_000303.3(PMM2):c.66+1G>T	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1070199	NM_000303.3(PMM2):c.72del (p.Thr25fs)	PMM2 (T25fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 803211	NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	PMM2 (Q33*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550940	NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	PMM2 (L35*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 632947	NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	PMM2 (Q37*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 555844	NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	PMM2 (G42R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1053724	NM_000303.3(PMM2):c.127G>C (p.Val43Leu)	PMM2 (V43L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 886852	NM_000303.3(PMM2):c.154G>C (p.Val52Leu)	PMM2 (V52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 530390	NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	PMM2 (V60L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 794892	NM_000303.3(PMM2):c.179-4G>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 554804	NM_000303.3(PMM2):c.190del (p.Tyr64fs)	PMM2 (Y64fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 417920	NM_000303.3(PMM2):c.255+1G>A	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 321216	NM_000303.3(PMM2):c.255+2T>C	PMM2	Single nucleotide variant (splice donor variant)	Intellectual disability +3 more	GPathogenic
Select item 886854	NM_000303.3(PMM2):c.256-13T>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 764072	NM_000303.3(PMM2):c.256-7C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 370282	NM_000303.3(PMM2):c.256-2A>G	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 92800	NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	PMM2 (A108V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 129976	NM_000303.3(PMM2):c.324G>A (p.Ala108=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +2 more	GBenign
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 755741	NM_000303.3(PMM2):c.348-5C>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 7711	NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 281078	NM_000303.3(PMM2):c.366C>T (p.Phe122=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 255806	NM_000303.3(PMM2):c.384C>T (p.Asn128=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 7708	NM_000303.3(PMM2):c.385G>A (p.Val129Met)	PMM2 (V129M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 741623	NM_000303.3(PMM2):c.390C>T (p.Ser130=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1000159	NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)	PMM2 (R134K)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 370287	NM_000303.3(PMM2):c.414del (p.Glu139fs)	PMM2 (E139fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 550780	NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	PMM2 (R141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type I +4 more	GPathogenic/Likely pathogenic
Select item 197658	NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	PMM2 (F144L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1152332	NM_000303.3(PMM2):c.435C>T (p.Tyr145=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 188763	NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	PMM2 (F157S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 7709	NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	PMM2 (R162W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1045231	NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)	PMM2 (K163Q)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1582939	NM_000303.3(PMM2):c.513G>A (p.Thr171=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 552492	NM_000303.3(PMM2):c.523+3A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1666931	NM_000303.3(PMM2):c.523+8A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 984505	NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)	PMM2 (K189fs)	Indel (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1495376	NM_000303.3(PMM2):c.581G>A (p.Arg194Gln)	PMM2 (R194Q)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1372616	NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)	PMM2 (N198S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 189141	NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	PMM2 (F207S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 550704	NM_000303.3(PMM2):c.640-15479C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1521291	NM_000303.3(PMM2):c.640-16C>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1429727	NM_000303.3(PMM2):c.640-13C>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 632945	NM_000303.3(PMM2):c.640-9T>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 289152	NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)	PMM2 (E219D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1381172	NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)	PMM2 (P224R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 641858	NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)	PMM2 (Y229*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1149170	NM_000303.3(PMM2):c.690C>T (p.Ser230=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 7719	NM_000303.3(PMM2):c.691G>A (p.Val231Met)	PMM2 (V231M)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 21145	NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	PMM2 (T237M)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 7716	NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	PMM2 (T237R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +3 more	GPathogenic/Likely pathogenic
Select item 198714	NM_000303.3(PMM2):c.713G>A (p.Arg238His)	PMM2 (R238H)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 7717	NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	PMM2 (C241S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic
Select item 557245	NM_000303.3(PMM2):c.737_739del (p.Ser246del)	PMM2 (S246del)	Deletion (inframe_deletion)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1391950	NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)	PMM2 (S246Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1809682	NM_000303.3(PMM2):c.*91C>T	PMM2	Single nucleotide variant (3 prime UTR variant)	PMM2-congenital disorder of glycosylation	GUncertain significance

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Items: 63