"Ambry Genetics"[submitter] AND "LOC129933695"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613699	NM_000251.1(MSH2):c.-68-1376_95del1539	LOC129933695, MSH2	Deletion (genic upstream transcript variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1728808	NM_000251.1(MSH2):c.-320_-310del11	LOC129933695, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728170	NM_000251.1(MSH2):c.-314dupG	LOC129933695, MSH2	Duplication	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141026	NM_000251.1(MSH2):c.-318A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1728524	NM_000251.1(MSH2):c.-317G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728517	NM_000251.1(MSH2):c.-317delG	LOC129933695, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728420	NM_000251.1(MSH2):c.-316G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187758	NM_000251.1(MSH2):c.-316G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728291	NM_000251.1(MSH2):c.-315G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728177	NM_000251.1(MSH2):c.-314G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187160	NM_000251.1(MSH2):c.-314G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728063	NM_000251.1(MSH2):c.-313C>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232798	NM_000251.1(MSH2):c.-313C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727953	NM_000251.1(MSH2):c.-312T>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 183734	NM_000251.1(MSH2):c.-310C>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727553	NM_000251.1(MSH2):c.-309A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076122	NM_000251.1(MSH2):c.-308A>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727429	NM_000251.1(MSH2):c.-308A>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231220	NM_000251.1(MSH2):c.-308A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727358	NM_000251.1(MSH2):c.-307G>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799346	NM_000251.1(MSH2):c.-305C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799261	NM_000251.1(MSH2):c.-304T>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799024	NM_000251.1(MSH2):c.-302G>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799021	NM_000251.1(MSH2):c.-302G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799017	NM_000251.1(MSH2):c.-302G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798894	NM_000251.1(MSH2):c.-301C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798778	NM_000251.1(MSH2):c.-300A>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance

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Items: 27