"Ambry Genetics"[submitter] AND "LOC129933707"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1791607	NM_000179.3(MSH6):c.245C>G (p.Pro82Arg)	LOC129933707, MSH6 (P82R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1056885	NM_000179.3(MSH6):c.245C>T (p.Pro82Leu)	LOC129933707, MSH6 (P82L)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +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 1791773	NM_000179.3(MSH6):c.246T>G (p.Pro82=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 821353	NM_000179.3(MSH6):c.248C>T (p.Ala83Val)	LOC129933707, MSH6 (A83V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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)	not provided +3 more	GUncertain significance
Select item 922208	NM_000179.3(MSH6):c.249T>C (p.Ala83=)	LOC129933707, MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 229968	NM_000179.3(MSH6):c.249T>G (p.Ala83=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 821475	NM_000179.3(MSH6):c.255dup (p.Thr86fs)	LOC129933707, MSH6 (T86fs)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
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 237159	NM_000179.3(MSH6):c.251C>T (p.Ala84Val)	LOC129933707, MSH6 (A84V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +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 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 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 619699	NM_000179.3(MSH6):c.256A>C (p.Thr86Pro)	LOC129933707, MSH6 (T86P)	Single nucleotide variant (missense variant +2 more)	not provided +1 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)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 485864	NM_000179.3(MSH6):c.258C>G (p.Thr86=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1793784	NM_000179.3(MSH6):c.260G>A (p.Ser87Asn)	LOC129933707, MSH6 (R87K +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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 1793667	NM_000179.3(MSH6):c.260+2T>G	LOC129933707, MSH6	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 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 485883	NM_000179.3(MSH6):c.260+5C>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793665	NM_000179.3(MSH6):c.260+12G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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

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Items: 35