C3714958[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334019	NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)	CPS1 (L341V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 281476	NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)	CPS1 (T344A +1 more)	Indel (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +3 more	GBenign/Likely benign
Select item 128849	NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)	CPS1 (T344A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 897642	NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)	CPS1 (I385T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 203645	NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)	CPS1 (T405N +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GBenign/Likely benign
Select item 449391	NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	CPS1 (A438P +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GLikely pathogenic
Select item 576447	NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)	CPS1 (A543T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 749210	NM_001875.5(CPS1):c.1708-5G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I +1 more	GBenign/Likely benign
Select item 334026	NM_001875.5(CPS1):c.2265C>T (p.Ser755=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign/Likely benign
Select item 656636	NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)	CPS1 (R814G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 702366	NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)	CPS1 (K875E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 477853	NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)	CPS1 (A949T +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GUncertain significance
Select item 567695	NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)	CPS1 (N970S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 1032779	NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)	CPS1 (I1043M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 1413631	NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)	CPS1 (D1095N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 936338	NM_001875.5(CPS1):c.3336+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 1400087	NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)	CPS1 (L1127* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 235659	NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	CPS1 (I1215V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895907	NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)	CPS1 (R1239W +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +3 more	GUncertain significance
Select item 1434103	NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)	CPS1 (K1258T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 552571	NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)	CPS1 (R1262* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 554642	NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)	CPS1 (R1262Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GUncertain significance
Select item 258483	NM_001875.5(CPS1):c.3928-8del	CPS1	Deletion (intron variant)	Pulmonary hypertension, neonatal, susceptibility to +3 more	GBenign/Likely benign
Select item 1412608	NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 196974	NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)	CPS1 (P1418S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 554348	NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)	CPS1	Single nucleotide variant (stop lost +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GUncertain significance

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Items: 26