"Revvity Omics, Revvity"[submitter] AND "PMS2"[gene] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142688	NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	PMS2 (I853M +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 572606	NM_000535.7(PMS2):c.2516A>G (p.His839Arg)	PMS2 (H839R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 9242	NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	PMS2 (R628* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 1323474	NM_000535.7(PMS2):c.1861del (p.Ser621fs)	PMS2 (S310fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 545989	NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)	PMS2 (Q567* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 162508	NM_000535.7(PMS2):c.1144+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127751	NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	PMS2 (N335S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1929394	NM_000535.7(PMS2):c.989-1G>A	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 127802	NM_000535.7(PMS2):c.989-1G>T	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome +4 more	GPathogenic
Select item 91382	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	PMS2 (R315* +5 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 215759	NM_000535.7(PMS2):c.935T>C (p.Met312Thr)	PMS2 (M312T +5 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 91377	NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	PMS2 (K301N +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 91375	NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	PMS2 (R152fs +4 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 127796	NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)	PMS2 (Q275* +4 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4 +6 more	GPathogenic
Select item 183732	NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)	PMS2 (S270* +4 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 577554	NM_000535.7(PMS2):c.803+1G>T	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome 4 +3 more	GPathogenic/Likely pathogenic
Select item 91369	NM_000535.7(PMS2):c.802dup (p.Tyr268fs)	PMS2 (Y133fs +4 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 183716	NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)	PMS2 (Y255* +4 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic
Select item 142778	NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	PMS2 (D143fs +4 more)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2435096	NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)	PMS2 (Q109R +10 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1756960	NM_000535.7(PMS2):c.706-1G>T	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GLikely pathogenic
Select item 1172908	NM_000535.7(PMS2):c.706-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GLikely pathogenic
Select item 920690	NM_000535.7(PMS2):c.705+2T>C	PMS2	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 91362	NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)	PMS2 (Q233* +3 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome	GPathogenic
Select item 234508	NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)	PMS2 (R211* +3 more)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 9234	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2 (R134* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 411055	NM_000535.7(PMS2):c.353+2T>C	PMS2	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 233300	NM_000535.7(PMS2):c.325dup (p.Glu109fs)	PMS2 (E109fs)	Duplication (frameshift variant +3 more)	not provided +4 more	GPathogenic
Select item 141395	NM_000535.7(PMS2):c.325del (p.Glu109fs)	PMS2 (E109fs)	Deletion (frameshift variant +3 more)	Lynch syndrome 4 +3 more	GPathogenic
Select item 233781	NM_000535.7(PMS2):c.251-2A>C	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 420580	NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)	PMS2 (T84fs)	Duplication (frameshift variant +4 more)	Lynch syndrome +4 more	GPathogenic
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
Select item 2432777	NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)	PMS2 (G134* +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 186061	NM_000535.7(PMS2):c.164-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 91341	NM_000535.7(PMS2):c.24-12_107delinsAAAT	PMS2	Indel (intron variant +1 more)	Lynch syndrome	GPathogenic
Select item 142650	NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	PMS2 (Q30*)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colon cancer +7 more	GPathogenic
Select item 234658	NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)	PMS2 (R3*)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 231873	NM_000535.7(PMS2):c.2T>G (p.Met1Arg)	PMS2 (M1R)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182809	NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	PMS2 (M1K)	Single nucleotide variant (missense variant +3 more)	PMS2-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 127788	NM_000535.7(PMS2):c.2T>C (p.Met1Thr)	PMS2 (M1T)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +5 more	GPathogenic/Likely pathogenic
Select item 142777	NM_000535.7(PMS2):c.1A>T (p.Met1Leu)	PMS2 (M1L)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 91323	NM_000535.7(PMS2):c.1A>G (p.Met1Val)	PMS2 (M1V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic

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: 44