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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	not provided +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)	PMM2-congenital disorder of glycosylation	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)	PMM2-related condition +2 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)	Inborn genetic diseases +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)	not provided +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)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 321216	NM_000303.3(PMM2):c.255+2T>C	PMM2	Single nucleotide variant (splice donor variant)	not provided +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)	Premature ovarian failure +2 more	GPathogenic/Likely pathogenic
Select item 129976	NM_000303.3(PMM2):c.324G>A (p.Ala108=)	PMM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	PMM2-related condition +2 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)	Inborn genetic diseases +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 +2 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)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 550780	NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	PMM2 (R141C)	Single nucleotide variant (missense variant)	not provided +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)	PMM2-congenital disorder of glycosylation +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)	not provided +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-related condition +1 more	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)	not provided +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	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)	PMM2-related condition +4 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)	not specified +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)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63