C3714958[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680879	NM_001875.5(CPS1):c.79del (p.Gln27fs)	CPS1 (Q27fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680901	NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)	CPS1 (Q27* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680903	NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)	CPS1 (W29* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2420	NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)	CPS1 (Q44* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2680912	NM_001875.5(CPS1):c.214del (p.Val72fs)	CPS1 (V72fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680894	NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)	CPS1 (Q103* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 3237531	NM_001875.5(CPS1):c.296C>T (p.Pro99Leu)	CPS1 (P110L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 477854	NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	CPS1	Duplication (inframe_insertion +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680897	NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)	CPS1 (E114* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1361235	NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)	CPS1 (Y140* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 283734	NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)	CPS1 (G163* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely 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 656114	NM_001875.5(CPS1):c.528+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 3241194	NM_001875.5(CPS1):c.656_657del (p.Lys219fs)	CPS1 (K219fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680887	NM_001875.5(CPS1):c.711+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680877	NM_001875.5(CPS1):c.711+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680884	NM_001875.5(CPS1):c.712-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2445716	NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)	CPS1 (P265L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 2418	NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)	CPS1 (K280N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 1068171	NM_001875.5(CPS1):c.840+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 2077457	NM_001875.5(CPS1):c.869dup (p.Leu290fs)	CPS1 (L290fs +1 more)	Duplication (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
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 420051	NM_001875.5(CPS1):c.1087-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 854122	NM_001875.5(CPS1):c.1110del (p.Phe371fs)	CPS1 (F382fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680902	NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)	CPS1 (Q375* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
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 1696209	NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)	CPS1 (L390R +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
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 449391	NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	CPS1 (A438P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 2680896	NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)	CPS1	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 3241193	NM_001875.5(CPS1):c.1359+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1458373	NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)	CPS1 (V457G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680913	NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)	CPS1 (P464fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
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 1070204	NM_001875.5(CPS1):c.1424del (p.Gly475fs)	CPS1 (G475fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1069202	NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)	CPS1 (Q478* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
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 2680895	NM_001875.5(CPS1):c.1547del (p.Cys516fs)	CPS1 (C516fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1069203	NM_001875.5(CPS1):c.1549+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 1968039	NM_001875.5(CPS1):c.1596del (p.Val533fs)	CPS1 (V544fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2419	NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)	CPS1 (T544M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680893	NM_001875.5(CPS1):c.1707+2T>G	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680900	NM_001875.5(CPS1):c.1796dup (p.Cys600fs)	CPS1 (C600fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680878	NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)	CPS1 (E604fs +1 more)	Microsatellite (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
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 451569	NM_001875.5(CPS1):c.1926del (p.Asp642fs)	CPS1 (D642fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +2 more	GPathogenic/Likely pathogenic
Select item 984186	NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)	CPS1 (C644* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 2680907	NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)	CPS1 (C648fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680890	NM_001875.5(CPS1):c.1962del (p.Asp654fs)	CPS1 (D654fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 3241197	NM_001875.5(CPS1):c.1974del (p.His659fs)	CPS1 (H659fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2086446	NM_001875.5(CPS1):c.1981+1G>C	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +2 more	GLikely pathogenic
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 2501128	NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)	CPS1 (R721Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 2680909	NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)	CPS1 (A724fs +1 more)	Indel (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 928711	NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)	CPS1	Indel (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 372747	NM_001875.5(CPS1):c.2339G>A (p.Arg780His)	CPS1 (R780H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2426	NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)	CPS1 (R787* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 2680910	NM_001875.5(CPS1):c.2392-1G>A	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
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 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 2680914	NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)	CPS1 (S808fs +1 more)	Microsatellite (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely 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 2739489	NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)	CPS1 (W833* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2036112	NM_001875.5(CPS1):c.2525del (p.Glu842fs)	CPS1 (E853fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2203249	NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)	CPS1 (R850C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GPathogenic/Likely pathogenic
Select item 659565	NM_001875.5(CPS1):c.2549G>A (p.Arg850His)	CPS1 (R850H +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 2680876	NM_001875.5(CPS1):c.2568+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 2680911	NM_001875.5(CPS1):c.2688-1G>A	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 3015220	NM_001875.5(CPS1):c.2720del (p.Ala907fs)	CPS1 (A918fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
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 3241191	NM_001875.5(CPS1):c.2752T>C (p.Ser918Pro)	CPS1 (S918P +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1192241	NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)	CPS1	Deletion (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
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 2680881	NM_001875.5(CPS1):c.2830-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 2680883	NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)	CPS1 (Y959C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 496145	NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680891	NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely 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 2680885	NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)	CPS1 (E1034* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1032779	NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)	CPS1 (I1043M +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GUncertain significance
Select item 2680908	NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)	CPS1 (Q1046* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 1468413	NM_001875.5(CPS1):c.3141+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 2680904	NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)	CPS1 (F1092fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680886	NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)	CPS1 (W1106* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680888	NM_001875.5(CPS1):c.3336+2T>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1343551	NM_001875.5(CPS1):c.3337-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 3241195	NM_001875.5(CPS1):c.3367del (p.Asp1123fs)	CPS1 (D1123fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1400087	NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)	CPS1 (L1127* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 2680898	NM_001875.5(CPS1):c.3404+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
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 2680880	NM_001875.5(CPS1):c.3481-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 3241196	NM_001875.5(CPS1):c.3481-1G>C	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 1076647	NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter)	CPS1 (R1174* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 30720	NM_001875.5(CPS1):c.3558+1G>C	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 1066946	NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)	CPS1 (S1203P +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 983916	NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)	CPS1 (Q1213* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 2680906	NM_001875.5(CPS1):c.3666+1del	CPS1	Deletion (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic

<< First< Prev

Page of 2