"GeneDx"[submitter] AND "PC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided	GBenign
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 305615	NM_001040716.2(PC):c.3473G>A (p.Arg1158His)	PC (R1158H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 305616	NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)	PC (M1145I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21229	NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)	PC (L1137fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1303614	NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)	PC (L1137V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378337	NM_001040716.2(PC):c.3342G>A (p.Ala1114=)	PC	Single nucleotide variant (synonymous variant)	not provided +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 516453	NM_001040716.2(PC):c.3336C>T (p.Ile1112=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +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 513091	NM_001040716.2(PC):c.3289-10G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 382093	NM_001040716.2(PC):c.3288+20C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 679539	NM_001040716.2(PC):c.3288+16G>C	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504261	NM_001040716.2(PC):c.3283A>G (p.Met1095Val)	PC (M1095V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203903	NM_001040716.2(PC):c.3258C>G (p.Ser1086=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1197535	NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser)	PC (N1081S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305618	NM_001040716.2(PC):c.3198C>T (p.Ser1066=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388274	NM_001040716.2(PC):c.3171G>A (p.Thr1057=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 1214661	NM_001040716.2(PC):c.3147+45dup	PC	Duplication (intron variant)	not provided	GLikely benign
Select item 203917	NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	PC (R1036H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1810640	NM_001040716.2(PC):c.3067T>C (p.Phe1023Leu)	PC (F1023L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704101	NM_001040716.2(PC):c.3061A>G (p.Lys1021Glu)	PC (K1021E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514003	NM_001040716.2(PC):c.3033T>C (p.Ala1011=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 451495	NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)	PC (T1003M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 506863	NM_001040716.2(PC):c.2880C>T (p.Pro960=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3363513	NM_001040716.2(PC):c.2870G>A (p.Gly957Glu)	PC (G957E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 879802	NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)	PC (R928Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1151080	NM_001040716.2(PC):c.2754C>T (p.Ala918=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388149	NM_001040716.2(PC):c.2748C>T (p.Asp916=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 203924	NM_001040716.2(PC):c.2723C>T (p.Thr908Met)	PC (T908M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378336	NM_001040716.2(PC):c.2706C>T (p.Gly902=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 203902	NM_001040716.2(PC):c.2682T>C (p.Tyr894=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 203901	NM_001040716.2(PC):c.2657A>G (p.Lys886Arg)	PC (K886R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 21227	NM_001040716.2(PC):c.2619C>T (p.Asn873=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 719044	NM_001040716.2(PC):c.2592T>C (p.Asn864=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 138581	NM_001040716.2(PC):c.2580C>T (p.Asp860=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 203900	NM_001040716.2(PC):c.2577G>A (p.Ser859=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 138580	NM_001040716.2(PC):c.2550C>T (p.Cys850=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2662656	NM_001040716.2(PC):c.2549G>A (p.Cys850Tyr)	PC (C850Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378335	NM_001040716.2(PC):c.2325G>A (p.Thr775=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1347651	NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)	PC (D774N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378334	NM_001040716.2(PC):c.2304G>C (p.Leu768=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +2 more	GLikely benign
Select item 138579	NM_001040716.2(PC):c.2249C>T (p.Thr750Met)	PC (T750M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 138578	NM_001040716.2(PC):c.2224-9T>G	PC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 305622	NM_001040716.2(PC):c.2224-31TC[8]	PC	Microsatellite (intron variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 378333	NM_001040716.2(PC):c.2224-18C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 378332	NM_001040716.2(PC):c.2223+19C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 203899	NM_001040716.2(PC):c.2195G>A (p.Arg732Gln)	PC (R732Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 1307305	NM_001040716.2(PC):c.2167T>C (p.Tyr723His)	PC (Y723H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171310	NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)	PC (D712N)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 680433	NM_001040716.2(PC):c.2127C>T (p.Asp709=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 512040	NM_001040716.2(PC):c.2118C>T (p.Tyr706=)	PC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 736123	NM_001040716.2(PC):c.2076G>A (p.Ala692=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 1003224	NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)	PC (K667T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1188217	NM_001040716.2(PC):c.1983-91G>T	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198918	NM_001040716.2(PC):c.1983-92A>T	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 21222	NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	PC (R631Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2041831	NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)	PC (A615S)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 1216635	NM_001040716.2(PC):c.1825+22C>T	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 964921	NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)	PC (A591T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 203897	NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)	PC (K589N)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1303467	NM_001040716.2(PC):c.1718C>G (p.Ala573Gly)	PC (A573G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203912	NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)	PC (A573T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 305623	NM_001040716.2(PC):c.1702A>G (p.Thr568Ala)	PC (T568A)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 430467	NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)	PC (G562R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512005	NM_001040716.2(PC):c.1683G>A (p.Pro561=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 203911	NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)	PC (R547Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303613	NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)	PC (P538L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 203896	NM_001040716.2(PC):c.1608G>A (p.Pro536=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 510594	NM_001040716.2(PC):c.1604-17G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 390257	NM_001040716.2(PC):c.1603+4G>T	PC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1722948	NM_001040716.2(PC):c.1582G>A (p.Val528Ile)	PC (V528I)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1137313	NM_001040716.2(PC):c.1575G>A (p.Thr525=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 203895	NM_001040716.2(PC):c.1551C>T (p.Pro517=)	PC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 203894	NM_001040716.2(PC):c.1519G>A (p.Val507Ile)	PC (V507I)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GLikely benign
Select item 1213494	NM_001040716.2(PC):c.1514-51G>A	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196242	NM_001040716.2(PC):c.1513+28CCTCC[2]	PC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 203893	NM_001040716.2(PC):c.1513+13del	PC	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 129879	NM_001040716.2(PC):c.1513+9C>A	PC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1302915	NM_001040716.2(PC):c.1486C>T (p.Arg496Trp)	PC (R496W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198347	NM_001040716.2(PC):c.1471C>T (p.Arg491Trp)	PC (R491W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508931	NM_001040716.2(PC):c.1446C>T (p.Asp482=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305626	NM_001040716.2(PC):c.1401C>T (p.Asn467=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1328851	NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)	PC (T457S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1199569	NM_001040716.2(PC):c.1368+294G>A	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183425	NM_001040716.2(PC):c.1368+142T>C	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138585	NM_001040716.2(PC):c.1368+11G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203909	NM_001040716.2(PC):c.1344G>A (p.Ala448=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 1157859	NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)	PC (G433S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203923	NM_001040716.2(PC):c.1292C>G (p.Ala431Gly)	PC (A431G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393266	NM_001040716.2(PC):c.1267G>A (p.Asp423Asn)	PC (D423N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1800830	NM_001040716.2(PC):c.1217G>A (p.Arg406His)	PC (R406H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202922	NM_001040716.2(PC):c.1185+172G>A	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217036	NM_001040716.2(PC):c.1185+111G>A	PC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426656	NM_001040716.2(PC):c.1185+5_1185+8del	PC	Deletion (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 379685	NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)	PC (I394T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 513955	NM_001040716.2(PC):c.1173C>T (p.Thr391=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +2 more	GLikely benign
Select item 305628	NM_001040716.2(PC):c.1167G>A (p.Pro389=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign

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