1373[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	KANSL1L, KANSL1L-AS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 152244	GRCh38/hg38 2q34(chr2:210165293-211245653)x3	ACADL, CPS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 671408	NM_001875.4(CPS1):c.-79320T>G	CPS1, LANCL1	Single nucleotide variant	not provided	GBenign
Select item 506407	NM_001122633.3(CPS1):c.-74_-54dup	CPS1	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 380167	NM_001122633.3(CPS1):c.-34G>A	CPS1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 555404	NM_001122633.3(CPS1):c.-17T>G	CPS1	Single nucleotide variant (5 prime UTR variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 137026	NM_001122633.3(CPS1):c.-16+12G>A	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1205371	NM_001122633.3(CPS1):c.-15-338G>T	CPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222196	NM_001122633.3(CPS1):c.-15-321C>A	CPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297986	NM_001122633.3(CPS1):c.-15-179G>A	CPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334005	NM_001875.5(CPS1):c.-128G>A	CPS1	Single nucleotide variant (intron variant +1 more)	Congenital hyperammonemia, type I +1 more	GLikely benign
Select item 334006	NM_001875.5(CPS1):c.-76A>G	CPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334007	NM_001875.5(CPS1):c.-29T>G	CPS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 203647	NM_001875.5(CPS1):c.-4_-3insTTC	CPS1	Insertion (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 898740	NM_001875.5(CPS1):c.-4C>A	CPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 555351	NM_001875.5(CPS1):c.-3delinsTTCC	CPS1	Indel (5 prime UTR variant +2 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 554067	NM_001875.5(CPS1):c.3G>T (p.Met1Ile)	CPS1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 334009	NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	CPS1 (T2M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1089725	NM_001875.5(CPS1):c.6G>A (p.Thr2=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1498487	NM_001875.5(CPS1):c.8G>T (p.Arg3Met)	CPS1 (R14M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 1563812	NM_001875.5(CPS1):c.9G>A (p.Arg3=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 991580	NM_001875.5(CPS1):c.15G>C (p.Leu5Phe)	CPS1 (L16F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
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 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 557751	NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)	CPS1 (K9* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic/Likely pathogenic
Select item 2785229	NM_001875.5(CPS1):c.27A>G (p.Lys9=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1659352	NM_001875.5(CPS1):c.33G>A (p.Val11=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 751755	NM_001875.5(CPS1):c.39A>C (p.Thr13=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2809969	NM_001875.5(CPS1):c.45G>A (p.Lys15=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1525638	NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)	CPS1 (G28S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 1647397	NM_001875.5(CPS1):c.57C>T (p.Gly19=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1084054	NM_001875.5(CPS1):c.66T>C (p.Asn22=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1139055	NM_001875.5(CPS1):c.69G>A (p.Val23=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2487525	NM_001875.5(CPS1):c.70A>G (p.Thr24Ala)	CPS1 (T35A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1704975	NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)	CPS1 (A25E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1063688	NM_001875.5(CPS1):c.74C>T (p.Ala25Val)	CPS1 (A25V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
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 1667262	NM_001875.5(CPS1):c.78C>T (p.His26=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
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 1670949	NM_001875.5(CPS1):c.84A>G (p.Lys28=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
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 643982	NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)	CPS1 (G46D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2025353	NM_001875.5(CPS1):c.105C>A (p.Gly35=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1946517	NM_001875.5(CPS1):c.108C>T (p.Ile36=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 898741	NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)	CPS1 (L38F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 2094277	NM_001875.5(CPS1):c.114C>T (p.Leu38=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 648563	NM_001875.5(CPS1):c.121G>T (p.Val41Phe)	CPS1 (V41F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2203246	NM_001875.5(CPS1):c.125del (p.Lys42fs)	CPS1 (K42fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I	GPathogenic
Select item 552132	NM_001875.5(CPS1):c.126+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2720269	NM_001875.5(CPS1):c.126+7C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2735496	NM_001875.5(CPS1):c.126+10A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2782614	NM_001875.5(CPS1):c.126+12A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2135875	NM_001875.5(CPS1):c.126+13T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2742539	NM_001875.5(CPS1):c.126+16A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2834435	NM_001875.5(CPS1):c.126+17T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 511824	NM_001875.5(CPS1):c.126+18T>A	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	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 1252417	NM_001875.5(CPS1):c.126+124G>A	CPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250357	NM_001875.5(CPS1):c.127-98G>T	CPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175438	NM_001875.5(CPS1):c.127-93T>A	CPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420440	NM_001875.5(CPS1):c.127-20del	CPS1	Deletion (intron variant)	not specified	GLikely benign
Select item 2804629	NM_001875.5(CPS1):c.127-17T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2861617	NM_001875.5(CPS1):c.127-16G>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 512988	NM_001875.5(CPS1):c.127-13A>C	CPS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1659901	NM_001875.5(CPS1):c.127-7T>C	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2428451	NM_001875.5(CPS1):c.127-6C>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 2034666	NM_001875.5(CPS1):c.127-6C>T	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely benign
Select item 1928163	NM_001875.5(CPS1):c.127-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2420	NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)	CPS1 (Q44* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I	GPathogenic
Select item 2117844	NM_001875.5(CPS1):c.135A>G (p.Thr45=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2816582	NM_001875.5(CPS1):c.138A>G (p.Ala46=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1153081	NM_001875.5(CPS1):c.141C>T (p.His47=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2823470	NM_001875.5(CPS1):c.144T>C (p.Ile48=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2058333	NM_001875.5(CPS1):c.147C>T (p.Val49=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1116641	NM_001875.5(CPS1):c.147C>G (p.Val49=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2413195	NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)	CPS1 (L50P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 966243	NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)	CPS1 (D52N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1422482	NM_001875.5(CPS1):c.155A>G (p.Asp52Gly)	CPS1 (D52G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 809148	NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)	CPS1 (G53A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 203651	NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	CPS1 (M56R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2744975	NM_001875.5(CPS1):c.174T>C (p.Gly58=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1583274	NM_001875.5(CPS1):c.177C>T (p.Tyr59=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 1899860	NM_001875.5(CPS1):c.186C>A (p.Gly62=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 334010	NM_001875.5(CPS1):c.186C>T (p.Gly62=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 2005977	NM_001875.5(CPS1):c.192A>G (p.Pro64=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2077989	NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)	CPS1 (S65F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 334011	NM_001875.5(CPS1):c.195C>T (p.Ser65=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 417895	NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)	CPS1 (F73fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
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 2142307	NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)	CPS1 (N74S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 795336	NM_001875.5(CPS1):c.228C>G (p.Gly76=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 750654	NM_001875.5(CPS1):c.234A>G (p.Gly78=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GConflicting classifications of pathogenicity
Select item 556336	NM_001875.5(CPS1):c.236+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 2584543	NM_001875.5(CPS1):c.236+4A>G	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I	GLikely pathogenic

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