"Myriad Genetics, Inc."[submitter] AND "CPS1"[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723980	NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)	CPS1 (Q154* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726620	NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)	CPS1 (Y162* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 477857	NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)	CPS1 (R233C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 984182	NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter)	CPS1 (E455* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724608	NM_001875.5(CPS1):c.1453del (p.Leu485fs)	CPS1 (L485fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984183	NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter)	CPS1 (K497* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724453	NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)	CPS1 (V518fs +1 more)	Indel (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726227	NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)	CPS1 (G524fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984184	NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter)	CPS1 (S537* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724074	NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)	CPS1 (V584fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725506	NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)	CPS1 (Y590* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726845	NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)	CPS1 (G594fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984185	NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter)	CPS1 (S597* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725534	NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)	CPS1 (L609fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724729	NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)	CPS1 (Q619* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely 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 1724792	NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)	CPS1 (S673fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984187	NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter)	CPS1 (L691* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984188	NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)	CPS1 (E714* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 1724326	NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)	CPS1 (V715fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984189	NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter)	CPS1 (R718* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983623	NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter)	CPS1 (L734* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983624	NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter)	CPS1 (E807* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724254	NM_001875.5(CPS1):c.2470_2471del (p.Thr824fs)	CPS1 (T824fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724070	NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)	CPS1 (E845fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983625	NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter)	CPS1 (Y852* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725056	NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)	CPS1 (K869fs +1 more)	Insertion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983626	NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter)	CPS1 (Y872* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726390	NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)	CPS1 (K875* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983627	NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter)	CPS1 (L878* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726656	NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)	CPS1 (E909* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983628	NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter)	CPS1 (S913* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726518	NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)	CPS1 (K919* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983629	NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter)	CPS1 (E925* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726293	NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)	CPS1 (Q927* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983630	NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter)	CPS1 (Y951* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725371	NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)	CPS1 (Y959* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725663	NM_001875.5(CPS1):c.2913del (p.Phe971fs)	CPS1 (F971fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724926	NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)	CPS1 (C981* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983910	NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter)	CPS1 (C1006* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726248	NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)	CPS1 (V1013fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983911	NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter)	CPS1 (Y1044* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983912	NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter)	CPS1 (C1049* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725322	NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)	CPS1 (G1057* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724611	NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)	CPS1 (K1100* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725425	NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)	CPS1 (K1107* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983913	NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter)	CPS1 (E1117* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725969	NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)	CPS1 (K1120* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983914	NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)	CPS1 (E1153* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 1724861	NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)	CPS1 (V1170fs +1 more)	Indel (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726696	NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)	CPS1 (E1171fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1724191	NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)	CPS1 (V1181fs +1 more)	Indel (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725825	NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)	CPS1 (G1182fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983915	NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter)	CPS1 (G1204* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely 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 1724552	NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)	CPS1 (E1221* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 983917	NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter)	CPS1 (C1256* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1723943	NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)	CPS1 (G1272fs +1 more)	Insertion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1726059	NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)	CPS1 (F1275fs +1 more)	Indel (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725629	NM_001875.5(CPS1):c.3933del (p.Met1312fs)	CPS1 (M1312fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725444	NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)	CPS1 (W1315* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 1725217	NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)	CPS1 (R1326fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984076	NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter)	CPS1 (K1356* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 984077	NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)	CPS1 (Q1367* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 552749	NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	CPS1 (T1391M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 1725289	NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)	CPS1 (K1425* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66