C1833477[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89540	NM_000179.3(MSH6):c.59C>T (p.Ala20Val)	MSH6 (A20V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 184181	NM_000179.3(MSH6):c.147C>T (p.Ala49=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 41596	NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	MSH6 (S144I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 89522	NM_000179.3(MSH6):c.457+13A>G	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 42467	NM_000179.3(MSH6):c.1164C>T (p.His388=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36582	NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	MSH6 (L396V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36583	NM_000179.3(MSH6):c.1345C>T (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 135829	NM_000179.3(MSH6):c.1449G>T (p.Val483=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
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 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 36585	NM_000179.3(MSH6):c.2253T>C (p.Asn751=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 42468	NM_000179.3(MSH6):c.2272C>T (p.Leu758=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89338	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6 (R1035* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 42470	NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 89384	NM_000179.3(MSH6):c.3438+11_3438+14del	MSH6	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 89389	NM_000179.3(MSH6):c.3439-16C>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89417	NM_000179.3(MSH6):c.3557-4del	MSH6	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 89445	NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)	MSH6 (I1227L +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 182672	NM_000179.3(MSH6):c.4001+2TAAC[4]	MSH6	Microsatellite (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GBenign/Likely benign
Select item 89500	NM_000179.3(MSH6):c.4001+2TAAC[2]	MSH6	Microsatellite (splice donor variant)	Lynch syndrome	GLikely benign
Select item 89518	NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)	MSH6	Duplication (nonsense)	Lynch syndrome	GLikely benign

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Items: 23