ClinVar for MedGen (Select 1745382) - ClinVar

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Items: 78

	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 1709656	NM_000535.7(PMS2):c.638C>T (p.Pro213Leu)	PMS2 (P101L +6 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Mismatch repair cancer syndrome 4	GUncertain significance
Select item 1332203	NM_000535.7(PMS2):c.706-3delinsTA	PMS2	Indel (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1177508	GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3	PMS2	Copy number gain	Lynch syndrome 4 +1 more	Gnot provided
Select item 965742	NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)	PMS2 (Y56* +3 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4 +2 more	GPathogenic
Select item 928305	NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)	PMS2 (Q102* +3 more)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 926801	NM_000535.7(PMS2):c.538-2A>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Mismatch repair cancer syndrome 4 +2 more	GLikely pathogenic
Select item 836004	NM_000535.7(PMS2):c.1898A>G (p.His633Arg)	PMS2 (H442R +7 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 4 +3 more	GUncertain significance
Select item 821246	NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)	PMS2 (A617T +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 664242	NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)	PMS2 (A198T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GUncertain significance
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 619889	NM_000535.7(PMS2):c.1912del (p.Gln638fs)	PMS2 (Q451fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 525783	NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)	PMS2 (Y310C +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 517233	NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)	PMS2 (K670E +7 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 4 +4 more	GUncertain significance
Select item 486937	NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)	PMS2 (Q536* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 455684	NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)	PMS2 (H715Y +7 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 4 +3 more	GUncertain significance
Select item 434027	NM_000535.7(PMS2):c.538-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 419597	NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)	PMS2 (F562L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 419435	NM_000535.7(PMS2):c.537+1del	PMS2	Deletion (splice donor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 411067	NM_000535.7(PMS2):c.904G>T (p.Val302Phe)	PMS2 (V302F +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 411042	NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)	PMS2	Indel (missense variant +1 more)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 411040	NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)	PMS2	Single nucleotide variant (stop lost +1 more)	Lynch syndrome 4 +3 more	GUncertain significance
Select item 360541	NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)	PMS2 (A650V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 237915	NM_000535.7(PMS2):c.386C>T (p.Ala129Val)	PMS2 (A129V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 234673	NM_000535.7(PMS2):c.1778del (p.Lys593fs)	PMS2 (K402fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic/Likely pathogenic
Select item 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
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 231090	NM_000535.7(PMS2):c.2043G>A (p.Gln681=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +3 more	GLikely benign
Select item 219846	NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	PMS2 (V321A +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 216462	NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)	PMS2 (R3Q)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 215994	NM_000535.7(PMS2):c.537+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome 4 +3 more	GLikely pathogenic
Select item 192316	NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)	PMS2 (I668V +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +3 more	GLikely pathogenic
Select item 187605	NM_000535.7(PMS2):c.113C>T (p.Ala38Val)	PMS2 (A38V)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 186883	NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)	PMS2 (T203S +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +5 more	GUncertain significance
Select item 186832	NM_000535.7(PMS2):c.146C>G (p.Ala49Gly)	PMS2 (A49G)	Single nucleotide variant (missense variant +3 more)	Mismatch repair cancer syndrome 4 +4 more	GUncertain significance
Select item 186139	NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)	PMS2 (D526Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 186044	NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	PMS2 (A572T +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 185940	NM_000535.7(PMS2):c.502G>A (p.Val168Met)	PMS2 (V168M +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 185424	NM_000535.7(PMS2):c.1280G>A (p.Arg427His)	PMS2 (R427H +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 184092	NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	PMS2 (R315Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
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 142721	NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)	PMS2 (R747T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GUncertain significance
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 141000	NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)	PMS2 (G480R +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GUncertain significance
Select item 140880	NM_000535.7(PMS2):c.904-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 135947	NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)	PMS2 (R295W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 135946	NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)	PMS2 (T277K +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 135938	NM_000535.7(PMS2):c.1467G>A (p.Glu489=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 135071	NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)	PMS2 (G218D +3 more)	Single nucleotide variant (missense variant +3 more)	Mismatch repair cancer syndrome 4 +5 more	GUncertain significance
Select item 135067	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2 (R563* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome +6 more	GPathogenic
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 135064	NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)	PMS2 (K412E +7 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 4 +4 more	GUncertain significance
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 127775	NM_000535.7(PMS2):c.2174+6T>C	PMS2	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 127773	NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)	PMS2 (T703M +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 91386	NM_000535.7(PMS2):c.989-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 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 91338	NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)	PMS2 (F601fs +9 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91333	NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)	PMS2 (K561fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91331	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	PMS2 (L420fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91330	NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	PMS2 (L538fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GUncertain significance
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
Select item 91321	NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	PMS2 (K647* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91316	NM_000535.7(PMS2):c.182del (p.Tyr61fs)	PMS2 (Y61fs)	Deletion (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 91300	NM_000535.7(PMS2):c.1306dup (p.Ser436fs)	PMS2 (S301fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91296	NM_000535.6(PMS2):c.1169_1170ins20 (p.?)	PMS2	Insertion	Lynch syndrome	GPathogenic
Select item 91295	NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)	PMS2	Deletion	Lynch syndrome	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 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 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 9249	NM_000535.7(PMS2):c.219T>A (p.Cys73Ter)	PMS2 (C73* +1 more)	Single nucleotide variant (nonsense +3 more)	Mismatch repair cancer syndrome 4	GPathogenic
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 9244	NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)	PMS2 (R443fs +7 more)	Indel (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 9237	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2 (R802* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 9235	NM_000535.7(PMS2):c.1221del (p.Thr408fs)	PMS2 (T273fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	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

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Items: 78