C5436817[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573186	NM_000535.7(PMS2):c.1903G>T (p.Glu635Ter)	PMS2 (E324* +19 more)	Single nucleotide variant (nonsense +2 more)	Mismatch repair cancer syndrome 4	GPathogenic
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)	not specified +4 more	GBenign
Select item 486937	NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)	PMS2 (Q536* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 654473	NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg)	PMS2 (P173R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 36685	NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	PMS2 (P470S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36693	NM_000535.7(PMS2):c.780C>G (p.Ser260=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 36692	NM_000535.7(PMS2):c.705+17A>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 182817	NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)	PMS2 (E81K +1 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +6 more	GUncertain significance