"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC129933707 - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
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 237159	NM_000179.3(MSH6):c.251C>T (p.Ala84Val)	LOC129933707, MSH6 (A84V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +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 cancer-predisposing syndrome +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)	Hereditary nonpolyposis colorectal neoplasms +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)	not provided +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 specified +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)	Lynch syndrome +5 more	GBenign/Likely benign
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 cancer-predisposing syndrome +4 more	GLikely benign
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 934212	NM_000179.3(MSH6):c.260+4G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 491909	NM_000179.3(MSH6):c.260+4_260+9delinsCC	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491908	NM_000179.3(MSH6):c.260+4_260+13delinsCCT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491907	NM_000179.3(MSH6):c.260+4_260+7delinsCCT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491906	NM_000179.3(MSH6):c.260+4_260+6delinsCC	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920096	NM_000179.3(MSH6):c.260+5C>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 491911	NM_000179.3(MSH6):c.260+6_260+7delinsCT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491910	NM_000179.3(MSH6):c.260+6_260+13delinsT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 379551	NM_000179.3(MSH6):c.260+7G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 799126	NM_000179.3(MSH6):c.260+9G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 491899	NM_000179.3(MSH6):c.260+10T>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 36586	NM_000179.3(MSH6):c.260+10T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely 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)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 491901	NM_000179.3(MSH6):c.260+15G>C	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 491902	NM_000179.3(MSH6):c.260+16T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 491903	NM_000179.3(MSH6):c.260+20G>T	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 491905	NM_000179.3(MSH6):c.260+21T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491904	NM_000179.3(MSH6):c.260+21_260+22delinsGG	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 89295	NM_000179.3(MSH6):c.260+22C>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign

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Items: 34