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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136033	NM_002354.3(EPCAM):c.859-6A>G	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +2 more	GBenign
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 183770	NM_000251.3(MSH2):c.212-4del	MSH2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91101	NM_000251.3(MSH2):c.471C>A (p.Gly157=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 91140	NM_000251.3(MSH2):c.573C>T (p.Leu191=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
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 36562	NM_000251.3(MSH2):c.1077-10T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36565	NM_000251.3(MSH2):c.1387-8G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 90730	NM_000251.3(MSH2):c.1662-9G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 90744	NM_000251.3(MSH2):c.1680T>C (p.Asn560=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 36570	NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 90812	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	MSH2 (Q629R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90910	NM_000251.3(MSH2):c.2154A>G (p.Gln718=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 140785	NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	MSH2	Deletion (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
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 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
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 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 42470	NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
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
Select item 90243	NM_000249.4(MLH1):c.474C>T (p.Asn158=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GBenign
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 90303	NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)	MLH1 (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GConflicting classifications of pathogenicity
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 36539	NM_000249.4(MLH1):c.1039-8T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36546	NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36689	NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	PMS2 (N775S +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36688	NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
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 127798	NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	PMS2 (D286G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 198429	NM_000535.7(PMS2):c.706-4dup	PMS2	Duplication (intron variant)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46