5091[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 305607	NM_001040716.2(PC):c.*373C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305608	NM_001040716.2(PC):c.*353A>G	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305609	NM_001040716.2(PC):c.*203T>C	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 879760	NM_001040716.2(PC):c.*188G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305610	NM_001040716.2(PC):c.*185G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305611	NM_001040716.2(PC):c.*164dup	PC	Duplication (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305612	NM_001040716.2(PC):c.*161C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877797	NM_001040716.2(PC):c.*106G>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GBenign
Select item 877798	NM_001040716.2(PC):c.*101G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877799	NM_001040716.2(PC):c.*89G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 877800	NM_001040716.2(PC):c.*88G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305613	NM_001040716.2(PC):c.*43C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305614	NM_001040716.2(PC):c.*15G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1290864	NM_001040716.2(PC):c.*13C>T	PC	Single nucleotide variant (3 prime UTR variant)	PC-related condition +1 more	GBenign/Likely benign
Select item 1556105	NM_001040716.2(PC):c.3531C>A (p.Ile1177=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 744899	NM_001040716.2(PC):c.3531C>T (p.Ile1177=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1976580	NM_001040716.2(PC):c.3528G>A (p.Glu1176=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1909095	NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)	PC (E1176K)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 1914686	NM_001040716.2(PC):c.3522C>T (p.Ile1174=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 252515	NM_001040716.2(PC):c.3520A>C (p.Ile1174Leu)	PC (I1174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1647218	NM_001040716.2(PC):c.3519C>T (p.Leu1173=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1963915	NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)	PC (D1172Y)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 427084	NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)	PC (D1172N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 755167	NM_001040716.2(PC):c.3513C>T (p.Asp1171=)	PC	Single nucleotide variant (synonymous variant)	PC-related condition +1 more	GLikely benign
Select item 1528397	NM_001040716.2(PC):c.3504G>A (p.Leu1168=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1108056	NM_001040716.2(PC):c.3501A>G (p.Thr1167=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2147510	NM_001040716.2(PC):c.3497T>C (p.Met1166Thr)	PC (M1166T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1030922	NM_001040716.2(PC):c.3496A>G (p.Met1166Val)	PC (M1166V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2731537	NM_001040716.2(PC):c.3493G>T (p.Asp1165Tyr)	PC (D1165Y)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897497	NM_001040716.2(PC):c.3492G>A (p.Lys1164=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1088697	NM_001040716.2(PC):c.3489C>G (p.Thr1163=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 795761	NM_001040716.2(PC):c.3483T>C (p.His1161=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 3003117	NM_001040716.2(PC):c.3477G>A (p.Lys1159=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2916783	NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)	PC (K1159E)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2844011	NM_001040716.2(PC):c.3474C>A (p.Arg1158=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 305615	NM_001040716.2(PC):c.3473G>A (p.Arg1158His)	PC (R1158H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2590125	NM_001040716.2(PC):c.3472C>T (p.Arg1158Cys)	PC (R1158C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399572	NM_001040716.2(PC):c.3463G>A (p.Gly1155Ser)	PC (G1155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159533	NM_001040716.2(PC):c.3462G>A (p.Glu1154=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 570839	NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp)	PC (E1154D)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2042966	NM_001040716.2(PC):c.3457A>G (p.Met1153Val)	PC (M1153V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1578018	NM_001040716.2(PC):c.3453A>T (p.Ser1151=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1963507	NM_001040716.2(PC):c.3450C>T (p.Thr1150=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1939906	NM_001040716.2(PC):c.3450C>G (p.Thr1150=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2033826	NM_001040716.2(PC):c.3447G>C (p.Val1149=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2086543	NM_001040716.2(PC):c.3444G>A (p.Val1148=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 878841	NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)	PC (V1148L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 3003309	NM_001040716.2(PC):c.3441T>C (p.Thr1147=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 305616	NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)	PC (M1145I)	Single nucleotide variant (missense variant)	PC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2018027	NM_001040716.2(PC):c.3432G>A (p.Lys1144=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 377056	NM_001040716.2(PC):c.3429G>T (p.Met1143Ile)	PC (M1143I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1094091	NM_001040716.2(PC):c.3414T>C (p.Cys1138=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 21229	NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)	PC (L1137fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 1303614	NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)	PC (L1137V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1079780	NM_001040716.2(PC):c.3405G>A (p.Gln1135=)	PC	Single nucleotide variant (synonymous variant)	PC-related condition +1 more	GLikely benign
Select item 878842	NM_001040716.2(PC):c.3399G>A (p.Lys1133=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 1954452	NM_001040716.2(PC):c.3396C>T (p.Ala1132=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1549710	NM_001040716.2(PC):c.3396C>G (p.Ala1132=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2912737	NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)	PC (A1132T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2483462	NM_001040716.2(PC):c.3394G>T (p.Ala1132Ser)	PC (A1132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2737891	NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)	PC (V1126fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 559359	NM_001040716.2(PC):c.3391G>A (p.Val1131Met)	PC (V1131M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1591172	NM_001040716.2(PC):c.3390G>A (p.Lys1130=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2491850	NM_001040716.2(PC):c.3389A>G (p.Lys1130Arg)	PC (K1130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2990788	NM_001040716.2(PC):c.3387C>T (p.Ala1129=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1456502	NM_001040716.2(PC):c.3387del (p.Lys1130fs)	PC (K1130fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 797664	NM_001040716.2(PC):c.3387C>G (p.Ala1129=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2197533	NM_001040716.2(PC):c.3386C>T (p.Ala1129Val)	PC (A1129V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1910220	NM_001040716.2(PC):c.3384G>T (p.Gly1128=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1081541	NM_001040716.2(PC):c.3384G>A (p.Gly1128=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 937754	NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)	PC (G1128A)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 1444405	NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)	PC (A1127V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 1125269	NM_001040716.2(PC):c.3378G>A (p.Val1126=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1105425	NM_001040716.2(PC):c.3378G>C (p.Val1126=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1655604	NM_001040716.2(PC):c.3375G>C (p.Val1125=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1989232	NM_001040716.2(PC):c.3369C>T (p.Ile1123=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 878843	NM_001040716.2(PC):c.3364G>C (p.Asp1122His)	PC (D1122H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2703410	NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)	PC (I1121fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 555085	NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)	PC (I1123fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 2013456	NM_001040716.2(PC):c.3360G>A (p.Val1120=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1100097	NM_001040716.2(PC):c.3357G>A (p.Lys1119=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1423488	NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)	PC (P1115L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2733602	NM_001040716.2(PC):c.3342G>T (p.Ala1114=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 378337	NM_001040716.2(PC):c.3342G>A (p.Ala1114=)	PC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 305617	NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)	PC (A1114V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2353398	NM_001040716.2(PC):c.3337G>A (p.Gly1113Arg)	PC (G1113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1532430	NM_001040716.2(PC):c.3336C>A (p.Ile1112=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 516453	NM_001040716.2(PC):c.3336C>T (p.Ile1112=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2663212	NM_001040716.2(PC):c.3328G>A (p.Gly1110Ser)	PC (G1110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1610844	NM_001040716.2(PC):c.3327G>A (p.Lys1109=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2878052	NM_001040716.2(PC):c.3324G>A (p.Val1108=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1094428	NM_001040716.2(PC):c.3321C>T (p.Asp1107=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 1141674	NM_001040716.2(PC):c.3318G>A (p.Lys1106=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2706667	NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)	PC (K1106*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2000668	NM_001040716.2(PC):c.3312C>T (p.Ala1104=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2725266	NM_001040716.2(PC):c.3309G>A (p.Lys1103=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 930539	NM_001040716.2(PC):c.3306dup (p.Lys1103fs)	PC (K1103fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1623296	NM_001040716.2(PC):c.3297C>T (p.His1099=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign

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