"Illumina Laboratory Services, Illumina"[submitter] AND "CPS1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334005	NM_001875.5(CPS1):c.-128G>A	CPS1	Single nucleotide variant (intron variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely benign
Select item 334006	NM_001875.5(CPS1):c.-76A>G	CPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 203647	NM_001875.5(CPS1):c.-4_-3insTTC	CPS1	Insertion (5 prime UTR variant +2 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 334009	NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	CPS1 (T2M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898741	NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)	CPS1 (L38F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 203651	NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	CPS1 (M56R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 334010	NM_001875.5(CPS1):c.186C>T (p.Gly62=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 334011	NM_001875.5(CPS1):c.195C>T (p.Ser65=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 750654	NM_001875.5(CPS1):c.234A>G (p.Gly78=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 334012	NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)	CPS1 (P99T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 895774	NM_001875.5(CPS1):c.302T>C (p.Ile101Thr)	CPS1 (I112T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 203644	NM_001875.5(CPS1):c.486T>C (p.Tyr162=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 334014	NM_001875.5(CPS1):c.528+9A>G	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 377751	NM_001875.5(CPS1):c.529-4A>T	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 387745	NM_001875.5(CPS1):c.712-11C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I +1 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 128853	NM_001875.5(CPS1):c.937A>G (p.Met313Val)	CPS1 (M313V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 334017	NM_001875.5(CPS1):c.945C>G (p.Asn315Lys)	CPS1 (N315K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334018	NM_001875.5(CPS1):c.948-6C>T	CPS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 281331	NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)	CPS1 (T344S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 128850	NM_001875.5(CPS1):c.1032C>T (p.Thr344=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 632341	NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp)	CPS1 (N355D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334020	NM_001875.5(CPS1):c.1068C>G (p.Val356=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GBenign
Select item 334021	NM_001875.5(CPS1):c.1087-7C>T	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 384375	NM_001875.5(CPS1):c.1116C>T (p.Phe372=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 897643	NM_001875.5(CPS1):c.1165-12A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334022	NM_001875.5(CPS1):c.1359+7G>A	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 873532	NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)	CPS1 (A467V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334023	NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)	CPS1 (T493I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 512285	NM_001875.5(CPS1):c.1569A>G (p.Arg523=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 715412	NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)	CPS1 (D572N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 898807	NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)	CPS1 (A640S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 334024	NM_001875.5(CPS1):c.1982-8A>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 632342	NM_001875.5(CPS1):c.1982-1G>C	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 382478	NM_001875.5(CPS1):c.2025C>T (p.Ala675=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 898808	NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)	CPS1 (T706A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898809	NM_001875.5(CPS1):c.2186C>T (p.Ala729Val)	CPS1 (A729V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 137023	NM_001875.5(CPS1):c.2193-15G>T	CPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 258478	NM_001875.5(CPS1):c.2265C>A (p.Ser755=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 895846	NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp)	CPS1 (E797D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334027	NM_001875.5(CPS1):c.2394C>A (p.Val798=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GBenign
Select item 137024	NM_001875.5(CPS1):c.2448C>T (p.Cys816=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 392118	NM_001875.5(CPS1):c.2454A>G (p.Pro818=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128851	NM_001875.5(CPS1):c.2679C>G (p.Gly893=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 896122	NM_001875.5(CPS1):c.2688-12A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 334028	NM_001875.5(CPS1):c.2749A>G (p.Ile917Val)	CPS1 (I917V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 567695	NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)	CPS1 (N970S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 896123	NM_001875.5(CPS1):c.2932G>T (p.Val978Leu)	CPS1 (V989L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 631842	NM_001875.5(CPS1):c.2959+1del	CPS1	Deletion (splice donor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 896124	NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys)	CPS1 (W994C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 382785	NM_001875.5(CPS1):c.3033G>C (p.Val1011=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 334029	NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 897719	NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val)	CPS1 (I1043V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334030	NM_001875.5(CPS1):c.3141+15del	CPS1	Deletion (intron variant)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 897720	NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 897721	NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	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 235274	NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)	CPS1 (A1119T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
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 258480	NM_001875.5(CPS1):c.3481-8C>T	CPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 898874	NM_001875.5(CPS1):c.3481-7G>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 334031	NM_001875.5(CPS1):c.3481-7G>A	CPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 898875	NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)	CPS1 (R1185Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334032	NM_001875.5(CPS1):c.3558+7G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 898876	NM_001875.5(CPS1):c.3558+8C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 210758	NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)	CPS1 (M1209T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 235659	NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	CPS1 (I1215V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +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 +2 more	GUncertain significance
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 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 873533	NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile)	CPS1 (V1242I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 895908	NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)	CPS1 (F1266L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 334033	NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val)	CPS1 (E1286V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334034	NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr)	CPS1 (H1292Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 895909	NM_001875.5(CPS1):c.3928-15T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GBenign/Likely benign
Select item 896191	NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)	CPS1 (E1340G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 714720	NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 258484	NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)	CPS1 (G1376S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 896192	NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 128852	NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)	CPS1 (T1406N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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
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 203646	NM_001875.5(CPS1):c.4275-10A>G	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 334036	NM_001875.5(CPS1):c.4404+4T>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I +1 more	GBenign
Select item 680337	NM_001875.5(CPS1):c.4404+5A>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 334037	NM_001875.5(CPS1):c.*5G>A	CPS1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334038	NM_001875.5(CPS1):c.*74T>C	CPS1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance

<< First< Prev

Page of 2