"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 654100	NC_000002.11:g.(?_47596635)_(48034009_?)dup	EPCAM, KCNK12 +19 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 417523	NC_000002.11:g.(?_48010221)_(48032166_?)dup	LOC129933706, LOC129933707 +2 more	Duplication	Lynch syndrome	GUncertain significance
Select item 417522	NC_000002.11:g.(?_48010221)_(48010632_?)dup	LOC129933706, LOC129933707 +1 more	Duplication	Lynch syndrome	GUncertain significance
Select item 665058	NC_000002.12:g.(?_47783224)_(47783503_?)del	LOC129933707, MSH6	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 663411	NC_000002.12:g.(?_47783224)_(47791133_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 662863	NC_000002.11:g.(?_48010363)_(48034009_?)dup	LOC129933707, LOC129933708 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 584401	NC_000002.11:g.(?_48010363)_(48010642_?)dup	LOC129933707, MSH6	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 584300	NC_000002.12:g.(?_47783224)_(47806870_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583930	NC_000002.11:g.(?_48010363)_(48018272_?)dup	LOC129933708, LOC129933707 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 525998	NC_000002.11:g.(?_48010367)_(48034005_?)dup	LOC129933707, LOC129933708 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 525970	NC_000002.12:g.(?_47783228)_(47806866_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455067	NC_000002.12:g.(?_47783228)_(47805033_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455066	NC_000002.12:g.(?_47783228)_(47791129_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455065	NC_000002.12:g.(?_47783228)_(47783499_?)del	LOC129933707, MSH6	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 216041	NM_000179.2(MSH6):c.(?_-1)_457+?del	LOC129933707, LOC129933708 +1 more	Deletion	Lynch syndrome	GPathogenic
Select item 657633	NM_000179.3(MSH6):c.139_260+1878del	LOC129933707, LOC129933708 +1 more	Deletion (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 1056885	NM_000179.3(MSH6):c.245C>T (p.Pro82Leu)	LOC129933707, MSH6 (P82L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 954946	NM_000179.3(MSH6):c.246dup (p.Ala83fs)	LOC129933707, MSH6 (A83fs)	Duplication (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 184546	NM_000179.3(MSH6):c.246T>C (p.Pro82=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 664593	NM_000179.3(MSH6):c.247G>A (p.Ala83Thr)	LOC129933707, MSH6 (A83T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 419824	NM_000179.3(MSH6):c.248C>A (p.Ala83Asp)	LOC129933707, MSH6 (A83D)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +4 more	GUncertain significance
Select item 234750	NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)	LOC129933707, MSH6 (A83G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 229968	NM_000179.3(MSH6):c.249T>G (p.Ala83=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 821398	NM_000179.3(MSH6):c.250G>C (p.Ala84Pro)	LOC129933707, MSH6 (A84P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 483769	NM_000179.3(MSH6):c.250G>A (p.Ala84Thr)	LOC129933707, MSH6 (A84T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2698976	NM_000179.3(MSH6):c.251C>A (p.Ala84Asp)	LOC129933707, MSH6 (A84D)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 237159	NM_000179.3(MSH6):c.251C>T (p.Ala84Val)	LOC129933707, MSH6 (A84V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 701864	NM_000179.3(MSH6):c.252C>T (p.Ala84=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 219868	NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)	LOC129933707, MSH6 (P85S)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +3 more	GUncertain significance
Select item 548802	NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)	LOC129933707, MSH6 (T86del)	Microsatellite (inframe_deletion +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 410529	NM_000179.3(MSH6):c.254C>T (p.Pro85Leu)	LOC129933707, MSH6 (P85L)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 416139	NM_000179.3(MSH6):c.255C>T (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 184666	NM_000179.3(MSH6):c.255C>G (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 89288	NM_000179.3(MSH6):c.255C>A (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 525767	NM_000179.3(MSH6):c.256A>T (p.Thr86Ser)	LOC129933707, MSH6 (T86S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 966333	NM_000179.3(MSH6):c.257C>G (p.Thr86Ser)	LOC129933707, MSH6 (T86S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 480918	NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)	LOC129933707, MSH6 (T86I)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 2115082	NM_000179.3(MSH6):c.258C>T (p.Thr86=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 923515	NM_000179.3(MSH6):c.258C>A (p.Thr86=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 856514	NM_000179.3(MSH6):c.259A>C (p.Ser87Arg)	LOC129933707, MSH6 (S87R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +1 more	GUncertain significance
Select item 419538	NM_000179.3(MSH6):c.259A>T (p.Ser87Cys)	LOC129933707, MSH6 (S87C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 428349	NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)	LOC129933707, MSH6 (S87T)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 486898	NM_000179.3(MSH6):c.260+1G>C	LOC129933707, MSH6	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 1495655	NM_000179.3(MSH6):c.260+2T>C	LOC129933707, MSH6	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely pathogenic
Select item 419737	NM_000179.3(MSH6):c.260+2_260+3delinsAG	LOC129933707, MSH6	Indel (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 568535	NM_000179.3(MSH6):c.260+3A>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 492705	NM_000179.3(MSH6):c.260+3A>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 934212	NM_000179.3(MSH6):c.260+4G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 422685	NM_000179.3(MSH6):c.260+4_260+5delinsTT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2816649	NM_000179.3(MSH6):c.260+5C>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1602989	NM_000179.3(MSH6):c.260+6GGGGTG[3]	LOC129933707, MSH6	Microsatellite (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2988610	NM_000179.3(MSH6):c.260+6G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1017286	NM_000179.3(MSH6):c.260+6G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1668303	NM_000179.3(MSH6):c.260+7G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1153115	NM_000179.3(MSH6):c.260+7G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 379551	NM_000179.3(MSH6):c.260+7G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2752672	NM_000179.3(MSH6):c.260+8G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1669657	NM_000179.3(MSH6):c.260+8G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1582347	NM_000179.3(MSH6):c.260+9G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 799126	NM_000179.3(MSH6):c.260+9G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 455211	NM_000179.3(MSH6):c.260+10dup	LOC129933707, MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 491899	NM_000179.3(MSH6):c.260+10T>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 2084944	NM_000179.3(MSH6):c.260+11G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 920228	NM_000179.3(MSH6):c.260+11G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 548753	NM_000179.3(MSH6):c.260+15del	LOC129933707, MSH6	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2092872	NM_000179.3(MSH6):c.260+12G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1793666	NM_000179.3(MSH6):c.260+14G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 2020368	NM_000179.3(MSH6):c.260+15G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1543579	NM_000179.3(MSH6):c.260+15G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 491901	NM_000179.3(MSH6):c.260+15G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 491902	NM_000179.3(MSH6):c.260+16T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 381471	NM_000179.3(MSH6):c.260+17G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2842980	NM_000179.3(MSH6):c.260+18G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1617728	NM_000179.3(MSH6):c.260+20G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 491903	NM_000179.3(MSH6):c.260+20G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign

ClinVar

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Items: 75