ClinVar for MedGen (Select 1648491) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256953	NM_054012.4(ASS1):c.553C>T (p.Leu185Phe)	ASS1 (L185F)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 3240656	NM_054012.4(ASS1):c.1194-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GPathogenic
Select item 3240653	NM_054012.4(ASS1):c.726del (p.Thr243fs)	ASS1 (T243fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 3240610	NM_054012.4(ASS1):c.413del (p.Gln138fs)	ASS1 (Q138fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 3075874	NM_054012.4(ASS1):c.1128-1del	ASS1	Deletion (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 3062249	NM_054012.4(ASS1):c.175-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2860934	NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)	ASS1 (Q211*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 2692229	NM_054012.4(ASS1):c.412del (p.Gln138fs)	ASS1 (Q138fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679104	NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)	ASS1 (Q40L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679093	NM_054012.4(ASS1):c.391_398del (p.Ser131fs)	ASS1 (S131fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679090	NM_054012.4(ASS1):c.174+1G>C	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679080	NM_054012.4(ASS1):c.1047del (p.Gln350fs)	ASS1 (Q350fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679072	NM_054012.4(ASS1):c.299del (p.Arg100fs)	ASS1 (R100fs)	Deletion (frameshift variant)	Citrullinemia type I	GPathogenic
Select item 2679063	NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)	ASS1 (P144R)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 2679053	NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)	ASS1 (C331fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679051	NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)	ASS1 (G90D)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679049	NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)	ASS1 (R272L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679034	NM_054012.4(ASS1):c.774-2del	ASS1	Deletion (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679031	NM_054012.4(ASS1):c.839-1G>A	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679029	NM_054012.4(ASS1):c.848del (p.Glu283fs)	ASS1 (E283fs)	Deletion (frameshift variant)	Citrullinemia type I	GPathogenic
Select item 2679025	NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)	ASS1 (S134*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 2679022	NM_054012.4(ASS1):c.285del (p.Arg95fs)	ASS1 (R95fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679013	NM_054012.4(ASS1):c.364-2A>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GPathogenic
Select item 2679009	NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)	ASS1 (W23*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 2679002	NM_054012.4(ASS1):c.1193+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GLikely pathogenic
Select item 2678996	NM_054012.4(ASS1):c.246del (p.Tyr83fs)	ASS1 (Y83fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2678957	NM_054012.4(ASS1):c.907del (p.Asp303fs)	ASS1 (D303fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2678946	NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)	ASS1 (E191Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 2580904	NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)	ASS1 (Q311E)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 2501087	NM_054012.4(ASS1):c.815G>A (p.Arg272His)	ASS1 (R272H)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic
Select item 2445911	NM_054012.4(ASS1):c.1194-19_1197dup	ASS1	Duplication (splice acceptor variant)	Citrullinemia +1 more	GLikely pathogenic
Select item 2439268	NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)	ASS1 (N197S)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 2136821	NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)	ASS1 (T91P)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic
Select item 2081172	NM_054012.4(ASS1):c.773+4A>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 1802213	NM_054012.4(ASS1):c.66del (p.Trp23fs)	ASS1 (W23fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1726350	NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)	ASS1 (F44fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1725818	NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)	ASS1 (K348*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1725488	NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)	ASS1 (Y207fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1724653	NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)	ASS1 (Y282fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1724383	NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)	ASS1 (K165*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1724196	NM_054012.4(ASS1):c.432_433del (p.Trp145fs)	ASS1 (W145fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1723996	NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)	ASS1 (Y207fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1687575	NM_054012.4(ASS1):c.105+5G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I	GUncertain significance
Select item 1484114	NM_054012.4(ASS1):c.363G>A (p.Lys121=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GUncertain significance
Select item 1457481	NM_054012.4(ASS1):c.174+1G>A	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia +1 more	GPathogenic
Select item 1435108	NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)	ASS1 (E298K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 1366187	NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)	ASS1 (A164T)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GUncertain significance
Select item 1339499	NM_054012.4(ASS1):c.364-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +1 more	GPathogenic
Select item 1332900	NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	ASS1 (V69A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1332899	NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)	ASS1 (P96T)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GLikely pathogenic
Select item 1323949	NM_054012.4(ASS1):c.904A>G (p.Met302Val)	ASS1 (M302V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1323948	NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)	ASS1 (E191*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1263451	NM_054012.4(ASS1):c.175-1233G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244205	NM_054012.4(ASS1):c.175-1129A>G	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210356	NM_054012.4(ASS1):c.830_831del (p.Lys277fs)	ASS1 (K277fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1210355	NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter)	ASS1 (K340*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1195922	NM_054012.4(ASS1):c.439A>C (p.Met147Leu)	ASS1 (M147L)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 1195921	NM_054012.4(ASS1):c.748C>T (p.Leu250Phe)	ASS1 (L250F)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
Select item 1195920	NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)	ASS1 (G39R)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GUncertain significance
Select item 1192333	NM_054012.4(ASS1):c.566+88C>T	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177008	NM_054012.4(ASS1):c.495+84A>C	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177007	NM_054012.4(ASS1):c.105+115G>A	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1078993	NM_054012.4(ASS1):c.549G>A (p.Glu183=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 1071097	NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)	ASS1 (Q350*)	Single nucleotide variant (nonsense)	Citrullinemia +1 more	GPathogenic
Select item 1068237	NM_054012.4(ASS1):c.839-2A>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia	GLikely pathogenic
Select item 1061050	NM_054012.4(ASS1):c.295G>A (p.Ala99Thr)	ASS1 (A99T)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1047077	NM_054012.4(ASS1):c.151G>A (p.Ala51Thr)	ASS1 (A51T)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1034022	NM_054012.4(ASS1):c.812dup (p.Asn271fs)	ASS1 (N271fs)	Duplication (frameshift variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 1026886	NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys)	ASS1 (Y322C)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1020538	NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)	ASS1 (P178L)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GUncertain significance
Select item 1019457	NM_054012.4(ASS1):c.970+4C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GUncertain significance
Select item 999061	NM_054012.4(ASS1):c.247T>C (p.Tyr83His)	ASS1 (Y83H)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 995616	NM_054012.4(ASS1):c.838+38=	ASS1	Variation (intron variant)	Citrullinemia type I	GBenign
Select item 995615	NM_054012.4(ASS1):c.597+18=	ASS1	Variation (intron variant)	Citrullinemia type I	GBenign
Select item 995614	NM_054012.4(ASS1):c.496-36C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign
Select item 993523	NM_054012.4(ASS1):c.774-28G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign/Likely benign
Select item 993522	NM_054012.4(ASS1):c.773+23G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +1 more	GBenign/Likely benign
Select item 993037	NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	ASS1 (L160P)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 991334	NM_054012.4(ASS1):c.969C>T (p.Thr323=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I	GUncertain significance
Select item 991333	NM_054012.4(ASS1):c.771C>T (p.Val257=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 991332	NM_054012.4(ASS1):c.294C>A (p.Ile98=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 973471	NM_054012.4(ASS1):c.830A>G (p.Lys277Arg)	ASS1 (K277R)	Single nucleotide variant (missense variant)	Citrullinemia type I	GPathogenic
Select item 971742	NM_054012.4(ASS1):c.142A>G (p.Arg48Gly)	ASS1 (R48G)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 970822	NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)	ASS1 (R304Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GLikely pathogenic
Select item 967278	NM_054012.4(ASS1):c.772G>A (p.Ala258Thr)	ASS1 (A258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 966552	NM_054012.4(ASS1):c.556A>G (p.Met186Val)	ASS1 (M186V)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 965035	NM_054012.4(ASS1):c.351C>T (p.Gly117=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 957772	NM_054012.4(ASS1):c.623C>G (p.Thr208Arg)	ASS1 (T208R)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 950355	NM_054012.4(ASS1):c.364-2A>T	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia +1 more	GLikely pathogenic
Select item 948888	NM_054012.4(ASS1):c.712G>A (p.Val238Ile)	ASS1 (V238I)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GUncertain significance
Select item 939977	NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)	ASS1 (T119I)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 938981	NM_054012.4(ASS1):c.710A>G (p.Asn237Ser)	ASS1 (N237S)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GUncertain significance
Select item 933742	NM_054012.4(ASS1):c.63C>A (p.Leu21=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 928638	NM_054012.4(ASS1):c.420+1G>T	ASS1	Single nucleotide variant (splice donor variant)	Citrullinemia type I	GPathogenic/Likely pathogenic
Select item 914715	NM_054012.4(ASS1):c.564C>T (p.Ile188=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 914680	NM_054012.3(ASS1):c.-300G>C	ASS1	Single nucleotide variant	Citrullinemia type I	GUncertain significance
Select item 914272	NM_054012.4(ASS1):c.*244T>C	ASS1	Single nucleotide variant (3 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 914271	NM_054012.4(ASS1):c.*110C>T	ASS1	Single nucleotide variant (3 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 914227	NM_054012.4(ASS1):c.174+11G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity
Select item 913126	NM_054012.4(ASS1):c.1074G>A (p.Val358=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GConflicting classifications of pathogenicity

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