C4082171[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555404	NC_000002.12:g.210477765T>G	CPS1	Single nucleotide variant (5 prime UTR variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 555351	NM_001875.5(CPS1):c.-3delinsTTCC	CPS1	Indel (5 prime UTR variant +2 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 554067	NM_001875.5(CPS1):c.3G>T (p.Met1Ile)	CPS1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 557751	NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)	CPS1 (K9* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 552132	NM_001875.5(CPS1):c.126+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 203651	NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	CPS1 (M56R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 556336	NM_001875.5(CPS1):c.236+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 551616	NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)	CPS1 (P87S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 555896	NM_001875.5(CPS1):c.301del (p.Ile101fs)	CPS1 (I101fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 556326	NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)	CPS1 (R174W +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 554105	NM_001875.5(CPS1):c.594_595del (p.Asn199fs)	CPS1 (N199fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 557914	NM_001875.5(CPS1):c.711+1G>C	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 558166	NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)	CPS1 (R238* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 551696	NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)	CPS1 (E255* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 558481	NM_001875.5(CPS1):c.798del (p.Asn267fs)	CPS1 (N278fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 555527	NM_001875.5(CPS1):c.840_840+5dup	CPS1	Duplication (splice donor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 549970	NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)	CPS1 (G301E +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 549938	NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)	CPS1 (N343del +1 more)	Microsatellite (inframe_deletion +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 556645	NM_001875.5(CPS1):c.1086+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 550641	NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)	CPS1 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 553982	NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)	CPS1 (S396* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557698	NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)	CPS1 (G401R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 556714	NM_001875.5(CPS1):c.1263+5G>C	CPS1	Single nucleotide variant (intron variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 552292	NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)	CPS1 (A438T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 557991	NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)	CPS1 (D442* +1 more)	Duplication (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 556742	NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)	CPS1 (M452T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 553496	NM_001875.5(CPS1):c.1413dup (p.Asn472fs)	CPS1 (N483fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 553751	NM_001875.5(CPS1):c.1529del (p.Gly510fs)	CPS1 (G510fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 549934	NM_001875.5(CPS1):c.1760G>A (p.Arg587His)	CPS1 (R587H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 550945	NM_001875.5(CPS1):c.1775dup (p.Gly594fs)	CPS1 (G594fs +1 more)	Duplication (frameshift variant +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 558118	NM_001875.5(CPS1):c.1837-8A>G	CPS1	Single nucleotide variant (intron variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 556372	NM_001875.5(CPS1):c.1864G>A (p.Val622Met)	CPS1 (V622M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 558644	NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)	CPS1 (I632R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 280052	NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	CPS1 (N716K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +3 more	GPathogenic
Select item 554027	NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	CPS1 (R721* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 557596	NM_001875.5(CPS1):c.2193-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 557529	NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)	CPS1	Deletion (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 553297	NM_001875.5(CPS1):c.2391+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 555892	NM_001875.5(CPS1):c.2392-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 477851	NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)	CPS1 (R803C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 553914	NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)	CPS1 (F805L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 558483	NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)	CPS1 (Q810R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 556766	NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	CPS1 (R814W +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 552677	NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg)	CPS1 (C816R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 557256	NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)	CPS1 (P846L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 551382	NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)	CPS1 (N861del +1 more)	Microsatellite (inframe_deletion +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 552678	NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)	CPS1 (G911E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 558211	NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)	CPS1 (S913L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 555253	NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	CPS1 (D914H +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 557195	NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)	CPS1 (I937fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 557702	NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)	CPS1 (I937N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 554173	NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser)	CPS1 (G982S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 553356	NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)	CPS1 (G982V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 558271	NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)	CPS1 (I986T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 552577	NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)	CPS1 (S998F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 551211	NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)	CPS1 (N1016S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 557840	NM_001875.5(CPS1):c.3141+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 555324	NM_001875.5(CPS1):c.3185del (p.Asn1062fs)	CPS1 (N1062fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 558135	NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)	CPS1 (A1065E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 551329	NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)	CPS1 (R1089C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558676	NM_001875.5(CPS1):c.3375del (p.Cys1126fs)	CPS1 (C1137fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 556142	NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)	CPS1 (M1148K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 477855	NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)	CPS1 (A1155V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +3 more	GUncertain significance
Select item 555564	NM_001875.5(CPS1):c.3558_3558+1dup	CPS1	Duplication (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 552522	NM_001875.5(CPS1):c.3559-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 550437	NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)	CPS1 (R1228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	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 555773	NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)	CPS1 (L1318V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 555063	NM_001875.5(CPS1):c.4002+2T>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 553514	NM_001875.5(CPS1):c.4003-2A>T	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 551894	NM_001875.5(CPS1):c.4003-1G>C	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 558518	NM_001875.5(CPS1):c.4056del (p.Thr1353fs)	CPS1 (T1353fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 552974	NM_001875.5(CPS1):c.4101+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 105591	NM_001875.5(CPS1):c.4102-563G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 551336	NM_001875.5(CPS1):c.4102-561T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 551335	NM_001875.5(CPS1):c.4102-559G>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 554657	NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)	CPS1 (P1411L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 556287	NM_001875.5(CPS1):c.4274+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 558658	NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)	CPS1 (Y1491H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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: 82