"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 138703	NM_000535.7(PMS2):c.2187C>G (p.Leu729=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 41708	NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	PMS2 (M622I +7 more)	Single nucleotide variant (missense 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 41706	NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)	PMS2 (L571I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
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 91306	NM_000535.7(PMS2):c.1569C>G (p.Ser523=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 41704	NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	PMS2 (T511M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41703	NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)	PMS2 (T511A +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91304	NM_000535.7(PMS2):c.1488C>T (p.His496=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 41701	NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	PMS2 (H479Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 183779	NM_000535.7(PMS2):c.1266G>A (p.Glu422=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 127798	NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	PMS2 (D286G +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +7 more	GConflicting classifications of pathogenicity
Select item 198429	NM_000535.7(PMS2):c.706-4dup	PMS2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 218462	NM_000535.7(PMS2):c.706-5_706-4del	PMS2	Deletion (intron variant)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 218461	NM_000535.7(PMS2):c.706-4del	PMS2	Deletion (intron variant)	Breast and/or ovarian cancer +7 more	GBenign/Likely benign
Select item 91361	NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	PMS2 (Q205P +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +5 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
Select item 132730	NM_000535.7(PMS2):c.23+10G>C	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely 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: 21