"CPS1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334007	NM_001875.5(CPS1):c.-29T>G	CPS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 898740	NM_001875.5(CPS1):c.-4C>A	CPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 790914	NM_001875.5(CPS1):c.334C>T (p.Leu112=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely benign
Select item 334013	NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)	CPS1 (G150E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 334015	NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)	CPS1 (G213S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334016	NM_001875.5(CPS1):c.783C>T (p.Ile261=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1603940	NM_001875.5(CPS1):c.1020C>T (p.Ala340=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely benign
Select item 1125968	NM_001875.5(CPS1):c.1071C>T (p.Asn357=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	CPS1-related condition +1 more	GLikely benign
Select item 682377	NM_001875.5(CPS1):c.1416T>C (p.Asn472=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign/Likely benign
Select item 389590	NM_001875.5(CPS1):c.1437G>A (p.Ala479=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 203648	NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)	CPS1 (T544S +1 more)	Single nucleotide variant (missense variant +1 more)	CPS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2051017	NM_001875.5(CPS1):c.1707G>A (p.Ser569=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 280052	NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	CPS1 (N716K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 334025	NM_001875.5(CPS1):c.2192+6A>T	CPS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 517992	NM_001875.5(CPS1):c.2352A>G (p.Thr784=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign/Likely benign
Select item 511594	NM_001875.5(CPS1):c.2421G>A (p.Glu807=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign/Likely benign
Select item 2151494	NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)	CPS1 (S863F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 1471174	NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)	CPS1 (T871S +1 more)	Single nucleotide variant (missense variant +1 more)	CPS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3034042	NM_001875.5(CPS1):c.2730T>C (p.Ile910=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	CPS1-related condition	GLikely benign
Select item 697979	NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)	CPS1 (T1021M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 385662	NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 897722	NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)	CPS1 (P1105S +1 more)	Single nucleotide variant (missense variant +1 more)	CPS1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 703510	NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)	CPS1 (T1156S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 2914989	NM_001875.5(CPS1):c.3543T>C (p.Val1181=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely benign
Select item 677597	NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)	CPS1 (K1229N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign
Select item 2151495	NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)	CPS1 (P1422S +1 more)	Single nucleotide variant (missense 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)	CPS1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 334035	NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +2 more	GBenign/Likely benign

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Items: 28