ClinVar for MedGen (Select 907954) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24457161.	NM_001875.5(CPS1):c.794C>T (p.Pro265Leu) GRCh37: Chr2:211454912 GRCh38: Chr2:210590188	CPS1	P265L, P276L	Congenital hyperammonemia, type I	Likely pathogenic (Feb 5, 2023)	criteria provided, single submitter
Select item 24417632.	NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp) GRCh37: Chr2:211527868 GRCh38: Chr2:210663144	CPS1	R1317W, R1328W	Congenital hyperammonemia, type I	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 24405313.	NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro) GRCh37: Chr2:211525264 GRCh38: Chr2:210660540	CPS1	L1271P, L1282P	Congenital hyperammonemia, type I	Uncertain significance (Mar 25, 2020)	criteria provided, single submitter
Select item 24405304.	NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn) GRCh37: Chr2:211457658 GRCh38: Chr2:210592934	CPS1	T381N, T392N	Congenital hyperammonemia, type I	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 24405295.	NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg) GRCh37: Chr2:211523398 GRCh38: Chr2:210658674	CPS1	G1248R, G1259R	Congenital hyperammonemia, type I	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 24405286.	NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys) GRCh37: Chr2:211471495 GRCh38: Chr2:210606771	CPS1	N674K, N685K	Congenital hyperammonemia, type I	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 24405267.	NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp) GRCh37: Chr2:211465313 GRCh38: Chr2:210600589	CPS1	E528D, E539D	Congenital hyperammonemia, type I	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 24395598.	NM_001875.5(CPS1):c.4162-2A>G GRCh37: Chr2:211540450 GRCh38: Chr2:210675726	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Jan 20, 2022)	criteria provided, single submitter
Select item 24395539.	NM_001875.5(CPS1):c.2391+2T>C GRCh37: Chr2:211473285 GRCh38: Chr2:210608561	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 243954410.	NM_001875.5(CPS1):c.2193-1G>A GRCh37: Chr2:211473084 GRCh38: Chr2:210608360	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 243953511.	NM_001875.5(CPS1):c.4404+3A>G GRCh37: Chr2:211541863 GRCh38: Chr2:210677139	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 242918512.	NC_000002.11:g.211436160_211541748del105589 GRCh37: Chr2:211436160-211541748	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 242845113.	NM_001875.5(CPS1):c.127-6C>G GRCh37: Chr2:211438016 GRCh38: Chr2:210573292	CPS1		Congenital hyperammonemia, type I	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 242799014.	NM_001875.5(CPS1):c.334C>G (p.Leu112Val) GRCh37: Chr2:211441167 GRCh38: Chr2:210576443	CPS1	L112V, L123V	Congenital hyperammonemia, type I	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 242429115.	NC_000002.11:g.(?_211421458)_(211542709_?)dup GRCh37: Chr2:211421458-211542709	CPS1		Congenital hyperammonemia, type I	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 242429016.	NC_000002.11:g.(?_211456088)_(211479828_?)dup GRCh37: Chr2:211456088-211479828	CPS1		Congenital hyperammonemia, type I	Pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 242428917.	NC_000002.11:g.(?_211507198)_(211515172_?)del GRCh37: Chr2:211507198-211515172	CPS1		Congenital hyperammonemia, type I	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 242428818.	NC_000002.11:g.(?_211469816)_(211477027_?)del GRCh37: Chr2:211469816-211477027	CPS1		Congenital hyperammonemia, type I	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 242428719.	NC_000002.11:g.(?_211421433)_(211473293_?)del GRCh37: Chr2:211421433-211473293	CPS1		Congenital hyperammonemia, type I	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 242428620.	NC_000002.11:g.(?_211503854)_(211503959_?)del GRCh37: Chr2:211503854-211503959	CPS1		Congenital hyperammonemia, type I	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 242192621.	NM_001875.5(CPS1):c.3928-8_3928-7del GRCh37: Chr2:211527839-211527840 GRCh38: Chr2:210663115-210663116	CPS1		Congenital hyperammonemia, type I	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241739822.	NM_001875.5(CPS1):c.3477T>G (p.Ser1159=) GRCh37: Chr2:211515159 GRCh38: Chr2:210650435	CPS1		Congenital hyperammonemia, type I	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 241596023.	NM_001875.5(CPS1):c.3666+4A>G GRCh37: Chr2:211521360 GRCh38: Chr2:210656636	CPS1		Congenital hyperammonemia, type I	Uncertain significance (Apr 10, 2021)	criteria provided, single submitter
Select item 241562124.	NM_001875.5(CPS1):c.420C>T (p.Tyr140=) GRCh37: Chr2:211442183 GRCh38: Chr2:210577459	CPS1		Congenital hyperammonemia, type I	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 241522225.	NM_001875.5(CPS1):c.1264-17T>C GRCh37: Chr2:211460194 GRCh38: Chr2:210595470	CPS1		Congenital hyperammonemia, type I	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 241465926.	NM_001875.5(CPS1):c.382-6T>G GRCh37: Chr2:211442139 GRCh38: Chr2:210577415	CPS1		Congenital hyperammonemia, type I	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 241440627.	NM_001875.5(CPS1):c.2260G>A (p.Val754Ile) GRCh37: Chr2:211473152 GRCh38: Chr2:210608428	CPS1	V754I, V765I	Congenital hyperammonemia, type I	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 241390428.	NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys) GRCh37: Chr2:211442170 GRCh38: Chr2:210577446	CPS1	Y136C, Y147C	Congenital hyperammonemia, type I	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 241320429.	NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile) GRCh37: Chr2:211518771 GRCh38: Chr2:210654047	CPS1	K1168I, K1179I	Congenital hyperammonemia, type I	Uncertain significance (Jan 9, 2023)	criteria provided, single submitter
Select item 241320330.	NM_001875.5(CPS1):c.3241del (p.Leu1081fs) GRCh37: Chr2:211512682 GRCh38: Chr2:210647958	CPS1	L1081fs, L1092fs	Congenital hyperammonemia, type I	Pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241320231.	NM_001875.5(CPS1):c.3067dup (p.Asp1023fs) GRCh37: Chr2:211507314-211507315 GRCh38: Chr2:210642590-210642591	CPS1	D1023fs, D1034fs	Congenital hyperammonemia, type I	Pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241320132.	NM_001875.5(CPS1):c.2895+2T>C GRCh37: Chr2:211503941 GRCh38: Chr2:210639217	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241320033.	NM_001875.5(CPS1):c.2493del (p.Glu832fs) GRCh37: Chr2:211476940 GRCh38: Chr2:210612216	CPS1	E832fs, E843fs	Congenital hyperammonemia, type I	Pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241319934.	NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser) GRCh37: Chr2:211460241 GRCh38: Chr2:210595517	CPS1	G432S, G443S	Congenital hyperammonemia, type I	Uncertain significance (Jan 9, 2023)	criteria provided, single submitter
Select item 241319835.	NM_001875.5(CPS1):c.616A>T (p.Thr206Ser) GRCh37: Chr2:211447428 GRCh38: Chr2:210582704	CPS1	T206S, T217S	Congenital hyperammonemia, type I	Uncertain significance (Jan 9, 2023)	criteria provided, single submitter
Select item 241319736.	NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser) GRCh37: Chr2:211525245 GRCh38: Chr2:210660521	CPS1	P1265S, P1276S	Congenital hyperammonemia, type I	Likely pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241319637.	NM_001875.5(CPS1):c.3506TTG[1] (p.Val1170del) GRCh37: Chr2:211518774-211518776 GRCh38: Chr2:210654050-210654052	CPS1	V1170del, V1181del	Congenital hyperammonemia, type I	Pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 241319538.	NM_001875.5(CPS1):c.149T>C (p.Leu50Pro) GRCh37: Chr2:211438044 GRCh38: Chr2:210573320	CPS1	L50P, L61P	Congenital hyperammonemia, type I	Likely pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 220325239.	NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser) GRCh37: Chr2:211507223 GRCh38: Chr2:210642499	CPS1	F1003S, F992S	Congenital hyperammonemia, type I	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 220325040.	NM_001875.5(CPS1):c.2895+1G>A GRCh37: Chr2:211503940 GRCh38: Chr2:210639216	CPS1		Congenital hyperammonemia, type I	Likely pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 220324941.	NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys) GRCh37: Chr2:211476997 GRCh38: Chr2:210612273	CPS1	R850C, R861C	Congenital hyperammonemia, type I	Likely pathogenic (Oct 31, 2021)	criteria provided, single submitter
Select item 220324742.	NM_001875.5(CPS1):c.866del (p.Pro289fs) GRCh37: Chr2:211455548 GRCh38: Chr2:210590824	CPS1	P289fs, P300fs	Congenital hyperammonemia, type I	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 220324643.	NM_001875.5(CPS1):c.125del (p.Lys42fs) GRCh37: Chr2:211421581 GRCh38: Chr2:210556857	CPS1	K42fs, K53fs	Congenital hyperammonemia, type I	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 220149244.	NM_001875.5(CPS1):c.2485A>G (p.Met829Val) GRCh37: Chr2:211476934 GRCh38: Chr2:210612210	CPS1	M829V, M840V	Congenital hyperammonemia, type I	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 220127645.	NM_001875.5(CPS1):c.1436C>T (p.Ala479Val) GRCh37: Chr2:211464172 GRCh38: Chr2:210599448	CPS1	A479V, A490V	Congenital hyperammonemia, type I	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 220034546.	NM_001875.5(CPS1):c.348A>G (p.Gly116=) GRCh37: Chr2:211441181 GRCh38: Chr2:210576457	CPS1		Congenital hyperammonemia, type I	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 220019147.	NM_001875.5(CPS1):c.972T>G (p.Asn324Lys) GRCh37: Chr2:211456579 GRCh38: Chr2:210591855	CPS1	N324K, N335K	Congenital hyperammonemia, type I, Inborn genetic diseases	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219998948.	NM_001875.5(CPS1):c.546G>A (p.Lys182=) GRCh37: Chr2:211447358 GRCh38: Chr2:210582634	CPS1		Congenital hyperammonemia, type I	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 219991849.	NM_001875.5(CPS1):c.4405-10A>G GRCh37: Chr2:211542601 GRCh38: Chr2:210677877	CPS1		Congenital hyperammonemia, type I	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 219769250.	NM_001875.5(CPS1):c.521G>A (p.Arg174Gln) GRCh37: Chr2:211444487 GRCh38: Chr2:210579763	CPS1	R185Q, R174Q	Congenital hyperammonemia, type I	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 219763551.	NM_001875.5(CPS1):c.4274+16A>T GRCh37: Chr2:211540580 GRCh38: Chr2:210675856	CPS1		Congenital hyperammonemia, type I	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219708452.	NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala) GRCh37: Chr2:211540542 GRCh38: Chr2:210675818	CPS1	P1418A, P1429A	Congenital hyperammonemia, type I	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219626953.	NM_001875.5(CPS1):c.2829+6G>A GRCh37: Chr2:211502573 GRCh38: Chr2:210637849	CPS1		Inborn genetic diseases, Congenital hyperammonemia, type I	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219342754.	NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg) GRCh37: Chr2:211459263 GRCh38: Chr2:210594539	CPS1	K410R, K399R	Congenital hyperammonemia, type I	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 219264955.	NM_001875.5(CPS1):c.529-6T>C GRCh37: Chr2:211447335 GRCh38: Chr2:210582611	CPS1		Congenital hyperammonemia, type I	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 219118656.	NM_001875.5(CPS1):c.784G>A (p.Ala262Thr) GRCh37: Chr2:211454902 GRCh38: Chr2:210590178	CPS1	A262T, A273T	Congenital hyperammonemia, type I	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 219080257.	NM_001875.5(CPS1):c.319C>T (p.Pro107Ser) GRCh37: Chr2:211441152 GRCh38: Chr2:210576428	CPS1	P118S, P107S	Congenital hyperammonemia, type I	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 219028958.	NM_001875.5(CPS1):c.3336+5G>A GRCh37: Chr2:211512786 GRCh38: Chr2:210648062	CPS1		Congenital hyperammonemia, type I	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 218556759.	NM_001875.5(CPS1):c.1770T>C (p.Tyr590=) GRCh37: Chr2:211466988 GRCh38: Chr2:210602264	CPS1		Congenital hyperammonemia, type I	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 218337560.	NM_001875.5(CPS1):c.3928-8dup GRCh37: Chr2:211527827-211527828 GRCh38: Chr2:210663103-210663104	CPS1		Congenital hyperammonemia, type I	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 218178961.	NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg) GRCh37: Chr2:211473158 GRCh38: Chr2:210608434	CPS1	G767R, G756R	Congenital hyperammonemia, type I	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 217898262.	NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu) GRCh37: Chr2:211540510 GRCh38: Chr2:210675786	CPS1	P1418L, P1407L	Congenital hyperammonemia, type I	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 217832163.	NM_001875.5(CPS1):c.4102-8C>G GRCh37: Chr2:211539618 GRCh38: Chr2:210674894	CPS1		Congenital hyperammonemia, type I	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 217792164.	NM_001875.5(CPS1):c.3927+11C>T GRCh37: Chr2:211525390 GRCh38: Chr2:210660666	CPS1		Congenital hyperammonemia, type I	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 217785265.	NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val) GRCh37: Chr2:211532997 GRCh38: Chr2:210668273	CPS1	I1364V, I1375V	Congenital hyperammonemia, type I	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 217430766.	NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln) GRCh37: Chr2:211469902 GRCh38: Chr2:210605178	CPS1	R638Q, R649Q	Congenital hyperammonemia, type I	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 217402767.	NM_001875.5(CPS1):c.1378G>C (p.Val460Leu) GRCh37: Chr2:211464114 GRCh38: Chr2:210599390	CPS1	V460L, V471L	Congenital hyperammonemia, type I	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217320368.	NM_001875.5(CPS1):c.1164+5G>A GRCh37: Chr2:211457685 GRCh38: Chr2:210592961	CPS1		Congenital hyperammonemia, type I	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217307069.	NM_001875.5(CPS1):c.3667-15T>C GRCh37: Chr2:211523308 GRCh38: Chr2:210658584	CPS1		Congenital hyperammonemia, type I	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217260070.	NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr) GRCh37: Chr2:211541739 GRCh38: Chr2:210677015	CPS1	R1428T, R1439T	Congenital hyperammonemia, type I	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 217204371.	NM_001875.5(CPS1):c.4102-9C>G GRCh37: Chr2:211539617 GRCh38: Chr2:210674893	CPS1		Congenital hyperammonemia, type I	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 217180172.	NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter) GRCh37: Chr2:211476947 GRCh38: Chr2:210612223	CPS1	W844, W833	Congenital hyperammonemia, type I	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 217145773.	NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser) GRCh37: Chr2:211456643 GRCh38: Chr2:210591919	CPS1	P346S, P357S	Congenital hyperammonemia, type I	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216977874.	NM_001875.5(CPS1):c.879C>T (p.Ile293=) GRCh37: Chr2:211455562 GRCh38: Chr2:210590838	CPS1		Congenital hyperammonemia, type I	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 216810775.	NM_001875.5(CPS1):c.411T>A (p.Ser137Arg) GRCh37: Chr2:211442174 GRCh38: Chr2:210577450	CPS1	S137R, S148R	Congenital hyperammonemia, type I	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216809576.	NM_001875.5(CPS1):c.2687+14G>A GRCh37: Chr2:211481279 GRCh38: Chr2:210616555	CPS1		Congenital hyperammonemia, type I	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 216761777.	NM_001875.5(CPS1):c.1982-4A>G GRCh37: Chr2:211471451 GRCh38: Chr2:210606727	CPS1		Congenital hyperammonemia, type I	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216715178.	NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg) GRCh37: Chr2:211542663 GRCh38: Chr2:210677939	CPS1	K1486R, K1497R	Congenital hyperammonemia, type I	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 216662879.	NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu) GRCh37: Chr2:211515133 GRCh38: Chr2:210650409	CPS1	F1151L, F1162L	Inborn genetic diseases, Congenital hyperammonemia, type I	Conflicting interpretations of pathogenicity (May 8, 2022)	criteria provided, conflicting interpretations
Select item 216640680.	NM_001875.5(CPS1):c.2868C>T (p.Asn956=) GRCh37: Chr2:211503912 GRCh38: Chr2:210639188	CPS1		Congenital hyperammonemia, type I	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 216518781.	NM_001875.5(CPS1):c.3559-15T>G GRCh37: Chr2:211521234 GRCh38: Chr2:210656510	CPS1		Congenital hyperammonemia, type I	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 216471082.	NM_001875.5(CPS1):c.412A>C (p.Lys138Gln) GRCh37: Chr2:211442175 GRCh38: Chr2:210577451	CPS1	K138Q, K149Q	Congenital hyperammonemia, type I	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 216424383.	NM_001875.5(CPS1):c.763G>A (p.Glu255Lys) GRCh37: Chr2:211454881 GRCh38: Chr2:210590157	CPS1	E255K, E266K	Congenital hyperammonemia, type I	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 216272684.	NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu) GRCh37: Chr2:211476902 GRCh38: Chr2:210612178	CPS1	P818L, P829L	Congenital hyperammonemia, type I	Conflicting interpretations of pathogenicity (Nov 27, 2022)	criteria provided, conflicting interpretations
Select item 215729485.	NM_001875.5(CPS1):c.2382T>C (p.Ser794=) GRCh37: Chr2:211473274 GRCh38: Chr2:210608550	CPS1		Congenital hyperammonemia, type I	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215636286.	NM_001875.5(CPS1):c.563A>G (p.Gln188Arg) GRCh37: Chr2:211447375 GRCh38: Chr2:210582651	CPS1	Q188R, Q199R	Congenital hyperammonemia, type I	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 215617287.	NM_001875.5(CPS1):c.4437A>G (p.Lys1479=) GRCh37: Chr2:211542643 GRCh38: Chr2:210677919	CPS1		Congenital hyperammonemia, type I	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 215584888.	NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys) GRCh37: Chr2:211542647 GRCh38: Chr2:210677923	CPS1	R1492C, R1481C	Congenital hyperammonemia, type I	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 215574589.	NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu) GRCh37: Chr2:211465435 GRCh38: Chr2:210600711	CPS1	S569L, S580L	Congenital hyperammonemia, type I	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 215573690.	NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile) GRCh37: Chr2:211541820 GRCh38: Chr2:210677096	CPS1	T1455I, T1466I	Congenital hyperammonemia, type I	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215389591.	NM_001875.5(CPS1):c.3870G>A (p.Glu1290=) GRCh37: Chr2:211525322 GRCh38: Chr2:210660598	CPS1		Congenital hyperammonemia, type I	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 215352892.	NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala) GRCh37: Chr2:211521324 GRCh38: Chr2:210656600	CPS1	T1223A, T1212A	Congenital hyperammonemia, type I	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 215317093.	NM_001875.5(CPS1):c.261T>C (p.Pro87=) GRCh37: Chr2:211441094 GRCh38: Chr2:210576370	CPS1		Congenital hyperammonemia, type I	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 215248094.	NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln) GRCh37: Chr2:211518791 GRCh38: Chr2:210654067	CPS1	E1186Q, E1175Q	Congenital hyperammonemia, type I	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 215165895.	NM_001875.5(CPS1):c.1360-7_1360-6del GRCh37: Chr2:211464088-211464089 GRCh38: Chr2:210599364-210599365	CPS1		Congenital hyperammonemia, type I	Likely benign (Jan 23, 2019)	criteria provided, single submitter
Select item 215149596.	NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser) GRCh37: Chr2:211540521 GRCh38: Chr2:210675797	CPS1	P1422S, P1411S	Congenital hyperammonemia, type I	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 215149497.	NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe) GRCh37: Chr2:211481166 GRCh38: Chr2:210616442	CPS1	S863F, S874F	Congenital hyperammonemia, type I	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 215099598.	NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys) GRCh37: Chr2:211456623 GRCh38: Chr2:210591899	CPS1	Y339C, Y350C	Congenital hyperammonemia, type I	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 215098099.	NM_001875.5(CPS1):c.857G>A (p.Arg286His) GRCh37: Chr2:211455540 GRCh38: Chr2:210590816	CPS1	R297H, R286H	Congenital hyperammonemia, type I	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 2150563100.	NM_001875.5(CPS1):c.1708-16T>C GRCh37: Chr2:211466910 GRCh38: Chr2:210602186	CPS1		Congenital hyperammonemia, type I	Likely benign (Mar 29, 2022)	criteria provided, single submitter

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