ClinVar for MedGen (Select 325005) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594737	NM_000535.7(PMS2):c.745_746insCTGCCCACAC (p.Asp249fs)	PMS2 (D137fs +10 more)	Insertion (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 3594736	NM_000535.7(PMS2):c.803+7_803+8insCTTTTTTAGTAAGTACTA	PMS2	Microsatellite (splice donor variant +1 more)	Lynch syndrome 4 +1 more	GUncertain significance
Select item 3382250	NM_000535.7(PMS2):c.2324dup (p.Asn775fs)	PMS2 (N374fs +28 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3379238	NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)	PMS2 (K319fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 3366934	NM_000535.7(PMS2):c.832dup (p.His278fs)	PMS2 (H107fs +10 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3254409	NM_000535.7(PMS2):c.24-5_26del	PMS2	Deletion (intron variant +1 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3254261	NM_000535.7(PMS2):c.2326_2327del (p.Trp776fs)	PMS2 (W375fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 3248529	NM_000535.7(PMS2):c.2233del (p.Ile745fs)	PMS2 (I344fs +21 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3240166	NM_000535.7(PMS2):c.985T>C (p.Ser329Pro)	PMS2 (S138P +14 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 3240165	NM_000535.7(PMS2):c.288dup (p.Asp97fs)	PMS2 (D105fs +2 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3240164	NM_000535.7(PMS2):c.236_239del (p.Asn79fs)	PMS2 (K7fs +2 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3240163	NM_000535.7(PMS2):c.947dup (p.His316fs)	PMS2 (H125fs +14 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GLikely pathogenic
Select item 3240162	NM_000535.7(PMS2):c.452G>T (p.Arg151Leu)	PMS2 (R151L +5 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 3240161	NM_000535.7(PMS2):c.1859T>C (p.Phe620Ser)	PMS2 (F309S +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 3240160	NM_000535.7(PMS2):c.848G>C (p.Ser283Thr)	PMS2 (S112T +10 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 3240159	NM_000535.7(PMS2):c.624A>T (p.Gln208His)	PMS2 (Q102H +6 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 3148726	NM_000535.7(PMS2):c.1146_1147dup (p.Asn383fs)	PMS2 (N212fs +19 more)	Duplication (frameshift variant +2 more)	Hereditary nonpolyposis colon cancer +1 more	GPathogenic
Select item 3148690	NM_000535.7(PMS2):c.812del (p.Gly271fs)	PMS2 (G215fs +10 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 3148213	NM_000535.7(PMS2):c.164-2A>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +1 more	GLikely pathogenic
Select item 3066388	NM_000535.7(PMS2):c.2529T>A (p.Cys843Ter)	PMS2 (C442* +28 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 4	GUncertain significance
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2874085	NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)	PMS2 (K121R +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2774147	NM_000535.7(PMS2):c.554T>G (p.Val185Gly)	PMS2 (V185G +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2682043	NM_000535.7(PMS2):c.1556_1559delinsGTGT (p.Tyr519_Ala520delinsCysVal)	PMS2	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2677926	NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)	PMS2 (R151fs +5 more)	Indel (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 2677925	NM_000535.7(PMS2):c.1145-5C>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4 +1 more	GUncertain significance
Select item 2677924	NM_000535.7(PMS2):c.304del (p.Glu102fs)	PMS2 (E102fs +2 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 2677923	NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)	PMS2 (V337fs +21 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GLikely pathogenic
Select item 2677922	NM_000535.7(PMS2):c.2509A>G (p.Met837Val)	PMS2 (M436V +28 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +1 more	GUncertain significance
Select item 2677921	NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)	PMS2 (M449T +28 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4	GUncertain significance
Select item 2677920	NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)	PMS2 (K104R +6 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +1 more	GUncertain significance
Select item 2677919	NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)	PMS2	Duplication (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677917	NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)	PMS2 (D126Y +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 2677916	NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)	PMS2 (T103A +2 more)	Single nucleotide variant (intron variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 2677915	NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)	PMS2 (K355N +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 2677914	NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)	PMS2 (S212Y +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 2677913	NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)	PMS2 (P548A +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 2677912	NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)	PMS2 (R412P +28 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4	GUncertain significance
Select item 2677911	NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)	PMS2 (R199L +6 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4	GUncertain significance
Select item 2677910	NM_000535.7(PMS2):c.803+3A>T	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4	GUncertain significance
Select item 2677909	NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)	PMS2 (K303N +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GUncertain significance
Select item 2677908	NM_000535.7(PMS2):c.538-4A>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4	GUncertain significance
Select item 2677906	NM_000535.7(PMS2):c.2516_2519del (p.His839fs)	PMS2 (H438fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2677905	NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)	PMS2 (G110* +10 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677904	NM_000535.7(PMS2):c.746_755del (p.Asp249fs)	PMS2 (D114fs +10 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GLikely pathogenic
Select item 2674277	NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)	PMS2 (T322fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674275	NM_000535.7(PMS2):c.262dup (p.His88fs)	PMS2 (H150fs +2 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674274	NM_000535.7(PMS2):c.68_69del (p.Val23fs)	PMS2 (V23fs +1 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674273	NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)	PMS2	Indel (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674272	NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)	PMS2 (R133fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674271	NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)	PMS2 (E111fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674270	NM_000535.7(PMS2):c.1933del (p.Tyr645fs)	PMS2 (Y334fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674269	NM_000535.7(PMS2):c.2395dup (p.Arg799fs)	PMS2 (R398fs +28 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2674268	NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)	PMS2 (Y334* +19 more)	Duplication (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674267	NM_000535.7(PMS2):c.261_265del (p.His88fs)	PMS2 (H150fs +2 more)	Deletion (5 prime UTR variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 2674266	NM_000535.7(PMS2):c.1815del (p.Asp606fs)	PMS2 (D295fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674265	NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)	PMS2	Deletion (nonsense +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674264	NM_000535.7(PMS2):c.503dup (p.Arg169fs)	PMS2 (R169fs +5 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2674263	NM_000535.7(PMS2):c.781del (p.Asp261fs)	PMS2 (D126fs +10 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674261	NM_000535.7(PMS2):c.100_112del (p.Ser34fs)	PMS2 (S34fs +1 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674260	NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)	PMS2 (I122fs +4 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674259	NM_000535.7(PMS2):c.750del (p.Val251fs)	PMS2 (V116fs +10 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674258	NM_000535.7(PMS2):c.1223del (p.Thr408fs)	PMS2 (T151fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674257	NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)	PMS2 (Q100* +2 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674256	NM_000535.7(PMS2):c.487_497del (p.Phe163fs)	PMS2 (F163fs +5 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674255	NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)	PMS2 (K373fs +28 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2674254	NM_000535.7(PMS2):c.1867del (p.Ser623fs)	PMS2 (S312fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674253	NM_000535.7(PMS2):c.467_468del (p.Thr156fs)	PMS2 (T156fs +5 more)	Microsatellite (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674252	NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)	PMS2 (R108fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674251	NM_000535.7(PMS2):c.407del (p.Met136fs)	PMS2 (M136fs +5 more)	Deletion (frameshift variant +4 more)	Lynch syndrome 4	GPathogenic
Select item 2674250	NM_000535.7(PMS2):c.769_778del (p.Leu257fs)	PMS2 (L122fs +10 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674249	NM_000535.7(PMS2):c.1486dup (p.His496fs)	PMS2 (H185fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674248	NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)	PMS2 (S7*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674247	NM_000535.7(PMS2):c.2373del (p.Ser791fs)	PMS2 (S390fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2674246	NM_000535.7(PMS2):c.1789del (p.Thr597fs)	PMS2 (T286fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674245	NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)	PMS2 (E118* +10 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674244	NM_000535.7(PMS2):c.2148del (p.Val717fs)	PMS2 (V316fs +20 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674243	NM_000535.7(PMS2):c.2050del (p.Leu684fs)	PMS2 (L283fs +20 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674242	NM_000535.7(PMS2):c.1211del (p.Pro404fs)	PMS2 (P147fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674240	NM_000535.7(PMS2):c.1845del (p.Val616fs)	PMS2 (V305fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674239	NM_000535.7(PMS2):c.1048del (p.Leu350fs)	PMS2 (L159fs +14 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colon cancer +3 more	GPathogenic
Select item 2674238	NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)	PMS2 (R151fs +5 more)	Indel (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674237	NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)	PMS2 (Y14* +5 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674236	NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)	PMS2 (E162* +19 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674235	NM_000535.7(PMS2):c.2160del (p.Gln721fs)	PMS2 (Q320fs +20 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674234	NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)	PMS2 (C204* +19 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674233	NM_000535.7(PMS2):c.1485dup (p.His496fs)	PMS2 (H185fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674232	NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)	PMS2 (A315fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674230	NM_000535.7(PMS2):c.149del (p.Gly50fs)	PMS2 (G112fs +1 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674229	NM_000535.7(PMS2):c.2386dup (p.Val796fs)	PMS2 (V395fs +28 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2674228	NM_000535.7(PMS2):c.397_406del (p.Thr133fs)	PMS2 (M1fs +5 more)	Deletion (frameshift variant +4 more)	Lynch syndrome 4	GPathogenic
Select item 2674227	NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)	PMS2 (Y191* +5 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4	GPathogenic/Likely pathogenic
Select item 2674226	NM_000535.7(PMS2):c.1231dup (p.Glu411fs)	PMS2 (E100fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674224	NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)	PMS2 (S408fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic
Select item 2674223	NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)	PMS2 (S195* +5 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 2674222	NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)	PMS2 (K129fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674220	NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)	PMS2 (C112* +13 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4	GPathogenic
Select item 2674218	NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)	PMS2 (G141fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674217	NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)	PMS2 (K102fs +19 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 2674216	NM_000535.7(PMS2):c.2324del (p.Asn775fs)	PMS2 (N374fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4	GPathogenic

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