ClinVar for Gene (Select 1373) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377021	NM_001875.5(CPS1):c.1352_1359+1del	CPS1	Deletion (splice donor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 3369416	NM_001875.5(CPS1):c.4474A>G (p.Arg1492Gly)	CPS1 (R1492G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366781	NM_001875.5(CPS1):c.381+3A>G	CPS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3362431	NM_001875.5(CPS1):c.3480+3A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 3361046	NM_001875.5(CPS1):c.2204C>T (p.Ala735Val)	CPS1 (A735V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360824	NM_001875.5(CPS1):c.3479A>C (p.Gln1160Pro)	CPS1 (Q1160P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360419	NM_001875.5(CPS1):c.2423G>A (p.Ser808Asn)	CPS1 (S808N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3347534	NM_001875.5(CPS1):c.293A>G (p.Asn98Ser)	CPS1 (N109S +1 more)	Single nucleotide variant (missense variant +1 more)	CPS1-related disorder	GUncertain significance
Select item 3339461	NM_001875.5(CPS1):c.197C>T (p.Ser66Phe)	CPS1 (S66F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339351	NM_001875.5(CPS1):c.1072G>C (p.Asp358His)	CPS1 (D358H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339235	NM_001875.5(CPS1):c.3761T>C (p.Ile1254Thr)	CPS1 (I1254T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3336552	NM_001875.5(CPS1):c.1799G>A (p.Cys600Tyr)	CPS1 (C600Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3336201	NM_001875.5(CPS1):c.2950T>C (p.Tyr984His)	CPS1 (Y984H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269262	NM_001875.5(CPS1):c.1669A>T (p.Ile557Phe)	CPS1 (I557F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269261	NM_001875.5(CPS1):c.2830A>T (p.Ile944Phe)	CPS1 (I944F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269260	NM_001875.5(CPS1):c.1396A>G (p.Ile466Val)	CPS1 (I466V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3252197	NM_001875.5(CPS1):c.1990G>T (p.Val664Phe)	CPS1 (V664F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3247574	NC_000002.11:g.(?_210636797)_(211542709_?)dup	ACADL, CPS1 +5 more	Duplication	not provided	GUncertain significance
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 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 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 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 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 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 3241192	NM_001875.5(CPS1):c.4404+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
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 3239628	GRCh37/hg19 2q34(chr2:211421441-211473283)x1	CPS1	Copy number loss	not provided	GPathogenic
Select item 3239345	NM_001875.5(CPS1):c.3928-4A>G	CPS1	Single nucleotide variant (intron variant)	not provided	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 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 3076852	NM_001875.5(CPS1):c.593A>G (p.Gln198Arg)	CPS1 (Q198R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076851	NM_001875.5(CPS1):c.4273A>C (p.Lys1425Gln)	CPS1 (K1425Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076850	NM_001875.5(CPS1):c.3541G>A (p.Val1181Ile)	CPS1 (V1181I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076849	NM_001875.5(CPS1):c.346G>A (p.Gly116Arg)	CPS1 (G116R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076848	NM_001875.5(CPS1):c.3210G>C (p.Lys1070Asn)	CPS1 (K1081N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076846	NM_001875.5(CPS1):c.2512G>C (p.Asp838His)	CPS1 (D849H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076845	NM_001875.5(CPS1):c.1916A>T (p.Asp639Val)	CPS1 (D650V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076844	NM_001875.5(CPS1):c.1708A>G (p.Ile570Val)	CPS1 (I581V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076843	NM_001875.5(CPS1):c.1706C>G (p.Ser569Trp)	CPS1 (S580W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3034042	NM_001875.5(CPS1):c.2730T>C (p.Ile910=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	CPS1-related disorder	GLikely benign
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)	Congenital hyperammonemia, type I +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 (missense 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 (non-coding transcript 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

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