C4082171[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1525638	NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)	CPS1 (G28S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 2440530	NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)	CPS1 (T381N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 1696208	NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)	CPS1 (R419W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2440526	NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)	CPS1 (E528D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 203648	NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)	CPS1 (T544S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 544151	NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)	CPS1 (R638* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 451569	NM_001875.5(CPS1):c.1926del (p.Asp642fs)	CPS1 (D642fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2440528	NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)	CPS1 (N674K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2439544	NM_001875.5(CPS1):c.2193-1G>A	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2439553	NM_001875.5(CPS1):c.2391+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2162726	NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)	CPS1 (P818L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 496145	NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 550006	NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)	CPS1 (G987C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 2440529	NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)	CPS1 (G1248R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 2440531	NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)	CPS1 (L1271P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2688858	NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)	CPS1 (M1312L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2439559	NM_001875.5(CPS1):c.4162-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2137723	NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)	CPS1 (Q1413E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2439535	NM_001875.5(CPS1):c.4404+3A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic

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Items: 20