"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SEPSECS - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1662317	NM_016955.4(SEPSECS):c.1503A>G (p.Ser501=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160069	NM_016955.4(SEPSECS):c.1497T>G (p.Ala499=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393721	NM_016955.4(SEPSECS):c.1496C>T (p.Ala499Val)	SEPSECS (A499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2792433	NM_016955.4(SEPSECS):c.1485A>G (p.Thr495=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651118	NM_016955.4(SEPSECS):c.1485A>T (p.Thr495=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142832	NM_016955.4(SEPSECS):c.1476T>G (p.Leu492=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 383633	NM_016955.4(SEPSECS):c.1464A>G (p.Leu488=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2031423	NM_016955.4(SEPSECS):c.1462C>T (p.Leu488=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103165	NM_016955.4(SEPSECS):c.1455T>C (p.Ala485=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158795	NM_016955.4(SEPSECS):c.1446A>G (p.Glu482=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126402	NM_016955.4(SEPSECS):c.1434T>C (p.Asp478=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365704	NM_016955.4(SEPSECS):c.1432G>A (p.Asp478Asn)	SEPSECS (D478N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818731	NM_016955.4(SEPSECS):c.1429G>T (p.Glu477Ter)	SEPSECS (E477* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1669915	NM_016955.4(SEPSECS):c.1419T>C (p.Tyr473=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787641	NM_016955.4(SEPSECS):c.1416T>C (p.Asn472=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421243	NM_016955.4(SEPSECS):c.1406G>A (p.Ser469Asn)	SEPSECS (S469N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858955	NM_016955.4(SEPSECS):c.1400_1401del (p.Lys467fs)	SEPSECS (K467fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 130289	NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)	SEPSECS (R465Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D +2 more	GBenign
Select item 632438	NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	SEPSECS (R465*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2D +3 more	GConflicting classifications of pathogenicity
Select item 989880	NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)	SEPSECS (E464*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 2145451	NM_016955.4(SEPSECS):c.1385G>C (p.Arg462Thr)	SEPSECS (R462T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792571	NM_016955.4(SEPSECS):c.1383A>G (p.Val461=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552835	NM_016955.4(SEPSECS):c.1368G>A (p.Arg456=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551803	NM_016955.4(SEPSECS):c.1362T>G (p.Leu454=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377893	NM_016955.4(SEPSECS):c.1360C>A (p.Leu454Ile)	SEPSECS (L454I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134911	NM_016955.4(SEPSECS):c.1357A>C (p.Arg453=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130288	NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)	SEPSECS (K452N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1096407	NM_016955.4(SEPSECS):c.1344C>T (p.Asp448=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107441	NM_016955.4(SEPSECS):c.1341G>A (p.Val447=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989882	NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811543	NM_016955.4(SEPSECS):c.1311A>G (p.Ala437=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747328	NM_016955.4(SEPSECS):c.1296T>C (p.Ala432=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734701	NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)	SEPSECS (C431G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1156823	NM_016955.4(SEPSECS):c.1290T>A (p.Pro430=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751746	NM_016955.4(SEPSECS):c.1290T>C (p.Pro430=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348552	NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)	SEPSECS (T426A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1160849	NM_016955.4(SEPSECS):c.1266T>C (p.Phe422=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1117778	NM_016955.4(SEPSECS):c.1263C>T (p.Gly421=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989883	NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)	SEPSECS (Y417C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901441	NM_016955.4(SEPSECS):c.1248C>T (p.Gly416=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448477	NM_016955.4(SEPSECS):c.1222C>G (p.Leu408Val)	SEPSECS (L408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947531	NM_016955.4(SEPSECS):c.1218G>C (p.Val406=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799049	NM_016955.4(SEPSECS):c.1215T>C (p.Val405=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754626	NM_016955.4(SEPSECS):c.1212-7C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 794196	NM_016955.4(SEPSECS):c.1212-10C>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663924	NM_016955.4(SEPSECS):c.1212-14C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742599	NM_016955.4(SEPSECS):c.1211+20A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1111658	NM_016955.4(SEPSECS):c.1211+9G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130287	NM_016955.4(SEPSECS):c.1211+7A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1642361	NM_016955.4(SEPSECS):c.1209C>T (p.Ala403=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470445	NM_016955.4(SEPSECS):c.1207G>A (p.Ala403Thr)	SEPSECS (A403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1086541	NM_016955.4(SEPSECS):c.1191C>T (p.Thr397=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123841	NM_016955.4(SEPSECS):c.1179G>A (p.Ser393=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878596	NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)	SEPSECS (S393L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1424843	NM_016955.4(SEPSECS):c.1178C>A (p.Ser393Ter)	SEPSECS (S393*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2078160	NM_016955.4(SEPSECS):c.1176C>G (p.Gly392=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434019	NM_016955.4(SEPSECS):c.1169_1173del (p.Gln390fs)	SEPSECS (Q390fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1993000	NM_016955.4(SEPSECS):c.1170G>A (p.Gln390=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445908	NM_016955.4(SEPSECS):c.1150C>T (p.Arg384Cys)	SEPSECS (R384C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1072923	NM_016955.4(SEPSECS):c.1148dup (p.His383fs)	SEPSECS (H383fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1499644	NM_016955.4(SEPSECS):c.1145A>G (p.Glu382Gly)	SEPSECS (E382G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125141	NM_016955.4(SEPSECS):c.1143T>C (p.Asp381=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877195	NM_016955.4(SEPSECS):c.1137A>T (p.Thr379=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837730	NM_016955.4(SEPSECS):c.1137A>G (p.Thr379=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695294	NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)	SEPSECS	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 2D +1 more	GBenign/Likely benign
Select item 2754967	NM_016955.4(SEPSECS):c.1122T>C (p.Ala374=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 639722	NM_016955.4(SEPSECS):c.1121-1G>T	SEPSECS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3008875	NM_016955.4(SEPSECS):c.1121-5T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903892	NM_016955.4(SEPSECS):c.1121-10dup	SEPSECS	Duplication (intron variant)	not provided	GBenign
Select item 2829139	NM_016955.4(SEPSECS):c.1121-11T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878926	NM_016955.4(SEPSECS):c.1121-15T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757789	NM_016955.4(SEPSECS):c.1120+20A>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980304	NM_016955.4(SEPSECS):c.1120+15C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 348553	NM_016955.4(SEPSECS):c.1120+12T>C	SEPSECS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2798503	NM_016955.4(SEPSECS):c.1120+10T>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017501	NM_016955.4(SEPSECS):c.1120+8_1120+10del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 1660602	NM_016955.4(SEPSECS):c.1120+9T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565780	NM_016955.4(SEPSECS):c.1120+9T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 901352	NM_016955.4(SEPSECS):c.1120+8C>A	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 2151013	NM_016955.4(SEPSECS):c.1120+5T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1434877	NM_016955.4(SEPSECS):c.1111A>G (p.Ile371Val)	SEPSECS (I371V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398127	NM_016955.4(SEPSECS):c.1111A>C (p.Ile371Leu)	SEPSECS (I371L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1575090	NM_016955.4(SEPSECS):c.1110C>T (p.Pro370=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764161	NM_016955.4(SEPSECS):c.1098A>C (p.Thr366=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873162	NM_016955.4(SEPSECS):c.1097del (p.Thr366fs)	SEPSECS (T451fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1603508	NM_016955.4(SEPSECS):c.1089G>C (p.Leu363=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110347	NM_016955.4(SEPSECS):c.1089G>T (p.Leu363=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792440	NM_016955.4(SEPSECS):c.1089G>A (p.Leu363=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835031	NM_016955.4(SEPSECS):c.1068A>G (p.Ser356=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158162	NM_016955.4(SEPSECS):c.1063T>C (p.Leu355=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720183	NM_016955.4(SEPSECS):c.1058_1061del (p.Lys353fs)	SEPSECS (K438fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2008329	NM_016955.4(SEPSECS):c.1053A>G (p.Gln351=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771302	NM_016955.4(SEPSECS):c.1043del (p.Leu348fs)	SEPSECS (L348fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1148042	NM_016955.4(SEPSECS):c.1038A>G (p.Ser346=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068397	NM_016955.4(SEPSECS):c.1029A>G (p.Glu343=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096348	NM_016955.4(SEPSECS):c.1027-4G>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609607	NM_016955.4(SEPSECS):c.1027-4G>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695409	NM_016955.4(SEPSECS):c.1027-7G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 750868	NM_016955.4(SEPSECS):c.1027-9T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745232	NM_016955.4(SEPSECS):c.1027-11T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign

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