C2936783[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 439908	NM_000251.3(MSH2):c.942+27_942+29del	MSH2	Deletion (intron variant)	Lynch syndrome 1 +4 more	GBenign/Likely benign
Select item 374958	NM_000251.3(MSH2):c.942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 336427	NM_000251.3(MSH2):c.942+28_942+29del	MSH2	Deletion (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91269	NM_000251.3(MSH2):c.984C>T (p.Ala328=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 36565	NM_000251.3(MSH2):c.1387-8G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 36570	NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90910	NM_000251.3(MSH2):c.2154A>G (p.Gln718=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 42496	NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	MLH1 (V326A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 41707	NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	PMS2 (T597S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GBenign
Select item 41705	NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	PMS2 (R563L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 198429	NM_000535.7(PMS2):c.706-4dup	PMS2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41716	NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	PMS2 (R20Q)	Single nucleotide variant (intron variant +3 more)	Lynch syndrome	GBenign
Select item 41713	NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	PMS2 (I18V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely benign