"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 135065	NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)	PMS2 (K541E +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GBenign
Select item 138701	NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)	PMS2 (E537K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely 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 183779	NM_000535.7(PMS2):c.1266G>A (p.Glu422=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 198429	NM_000535.7(PMS2):c.706-4dup	PMS2	Duplication (intron variant)	Lynch syndrome +5 more	GBenign/Likely benign
Select item 182816	NM_000535.7(PMS2):c.255G>A (p.Leu85=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 41716	NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	PMS2 (R20Q)	Single nucleotide variant (missense 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
Select item 132730	NM_000535.7(PMS2):c.23+10G>C	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign