ClinVar for MedGen (Select 907954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338275	NM_001875.5(CPS1):c.4003G>A (p.Val1335Met)	CPS1 (V1335M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3336300	NM_001875.5(CPS1):c.1760G>T (p.Arg587Leu)	CPS1 (R587L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3255574	NM_001875.5(CPS1):c.547del (p.Ile183fs)	CPS1 (I183fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GPathogenic
Select item 3247431	NC_000002.11:g.(?_211502406)_(211503959_?)dup	CPS1	Duplication	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3247430	NC_000002.11:g.(?_211444418)_(211464305_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3247429	NC_000002.11:g.(?_211452758)_(211452891_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3247428	NC_000002.11:g.(?_211504700)_(211504803_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3247427	NC_000002.11:g.(?_211457583)_(211457700_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3247426	NC_000002.11:g.(?_211421458)_(211421603_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3247425	NC_000002.11:g.(?_211421458)_(211542709_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 3242252	NM_001875.5(CPS1):c.3404G>C (p.Ser1135Thr)	CPS1 (S1135T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GPathogenic
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 3237492	NM_001875.5(CPS1):c.2600T>C (p.Ile867Thr)	CPS1 (I867T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 3065564	NM_001875.5(CPS1):c.3374C>T (p.Pro1125Leu)	CPS1 (P1125L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3065480	NM_001875.5(CPS1):c.455G>C (p.Trp152Ser)	CPS1 (W152S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3064684	NM_001875.5(CPS1):c.1550-1G>C	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 3023455	NM_001875.5(CPS1):c.1982-12T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3021543	NM_001875.5(CPS1):c.1837-13C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3020424	NM_001875.5(CPS1):c.2688-11T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3020263	NM_001875.5(CPS1):c.2687+7C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3019243	NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)	CPS1 (T6I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3019239	NM_001875.5(CPS1):c.2391+10del	CPS1	Deletion (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3019028	NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)	CPS1 (Q329K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 3018855	NM_001875.5(CPS1):c.3405-13C>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3018525	NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3018105	NM_001875.5(CPS1):c.4405-14C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3018040	NM_001875.5(CPS1):c.1360-16C>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3017273	NM_001875.5(CPS1):c.1550-16T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3016815	NM_001875.5(CPS1):c.711+18T>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3016470	NM_001875.5(CPS1):c.3559-16T>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3015855	NM_001875.5(CPS1):c.381+14T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3015632	NM_001875.5(CPS1):c.4274+12G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3015220	NM_001875.5(CPS1):c.2720del (p.Ala907fs)	CPS1 (A918fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 3015155	NM_001875.5(CPS1):c.1264-19T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3014857	NM_001875.5(CPS1):c.2532T>G (p.Ser844=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3014602	NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3014578	NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3014415	NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)	CPS1 (N970D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3013706	NM_001875.5(CPS1):c.481A>G (p.Ile161Val)	CPS1 (I161V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3012811	NM_001875.5(CPS1):c.864G>A (p.Glu288=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3012635	NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)	CPS1 (G443D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 3011874	NM_001875.5(CPS1):c.711+15C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3011644	NM_001875.5(CPS1):c.1550-4T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3008863	NM_001875.5(CPS1):c.264C>T (p.Ala88=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3008026	NM_001875.5(CPS1):c.3559-16T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3007970	NM_001875.5(CPS1):c.3757-13T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3006407	NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3004864	NM_001875.5(CPS1):c.1809A>G (p.Arg603=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 3004321	NM_001875.5(CPS1):c.1550-20C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 3003768	NM_001875.5(CPS1):c.2625G>A (p.Lys875=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2999019	NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2997044	NM_001875.5(CPS1):c.3756+13A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2996419	NM_001875.5(CPS1):c.945C>T (p.Asn315=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2995212	NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2995182	NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2994736	NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)	CPS1 (R1100H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2994239	NM_001875.5(CPS1):c.1360-11G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2993965	NM_001875.5(CPS1):c.261T>A (p.Pro87=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2993339	NM_001875.5(CPS1):c.465A>G (p.Glu155=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2988407	NM_001875.5(CPS1):c.2526G>A (p.Glu842=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2984656	NM_001875.5(CPS1):c.4371T>C (p.Val1457=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2980639	NM_001875.5(CPS1):c.529-11dup	CPS1	Duplication (intron variant)	Congenital hyperammonemia, type I	GBenign
Select item 2979322	NM_001875.5(CPS1):c.2193-14T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2979135	NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2977287	NM_001875.5(CPS1):c.2190T>C (p.Thr730=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2976465	NM_001875.5(CPS1):c.4449G>A (p.Val1483=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2975193	NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2974733	NM_001875.5(CPS1):c.1086+14A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2971435	NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)	CPS1 (D1315fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GPathogenic
Select item 2970484	NM_001875.5(CPS1):c.3757-19T>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2969005	NM_001875.5(CPS1):c.4404+11T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2968989	NM_001875.5(CPS1):c.712-18C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2967751	NM_001875.5(CPS1):c.471+10G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2966655	NM_001875.5(CPS1):c.3481-11C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2966518	NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2965071	NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2963820	NM_001875.5(CPS1):c.1087-16T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2963728	NM_001875.5(CPS1):c.4003-2A>C	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2961490	NM_001875.5(CPS1):c.1899A>G (p.Glu633=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2960858	NM_001875.5(CPS1):c.2391+11G>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2960224	NM_001875.5(CPS1):c.2896-9T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2959769	NM_001875.5(CPS1):c.2392-19T>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2959700	NM_001875.5(CPS1):c.1359+9A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2958984	NM_001875.5(CPS1):c.18A>G (p.Thr6=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2958159	NM_001875.5(CPS1):c.126+19G>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2957155	NM_001875.5(CPS1):c.529-20T>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2956917	NM_001875.5(CPS1):c.237-14G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2956511	NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2956027	NM_001875.5(CPS1):c.1982-16C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2955779	NM_001875.5(CPS1):c.3918T>C (p.Val1306=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2955218	NM_001875.5(CPS1):c.981C>T (p.Asn327=)	CPS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2920465	NM_001875.5(CPS1):c.236+18A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2918412	NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)	CPS1 (L1219M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2918358	NM_001875.5(CPS1):c.528+12A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2918238	NM_001875.5(CPS1):c.3558+20C>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2917918	NM_001875.5(CPS1):c.762G>A (p.Met254Ile)	CPS1 (M254I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2917684	NM_001875.5(CPS1):c.3927+18T>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2917544	NM_001875.5(CPS1):c.472-19T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2917530	NM_001875.5(CPS1):c.1440T>C (p.Asp480=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2917439	NM_001875.5(CPS1):c.1707+11T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign

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