ClinVar for Gene (Select 5395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3232040	NM_000535.7(PMS2):c.858C>T (p.Asp286=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232039	NM_000535.7(PMS2):c.858C>G (p.Asp286Glu)	PMS2 (D115E +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232038	NM_000535.7(PMS2):c.81C>G (p.Cys27Trp)	PMS2 (C27W +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232037	NM_000535.7(PMS2):c.804-659C>T	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232036	NM_000535.7(PMS2):c.793A>T (p.Asn265Tyr)	PMS2 (N130Y +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232035	NM_000535.7(PMS2):c.69C>A (p.Val23=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232033	NM_000535.7(PMS2):c.676_677del (p.Asn226fs)	PMS2 (N114fs +6 more)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232032	NM_000535.7(PMS2):c.657A>G (p.Gly219=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232031	NM_000535.7(PMS2):c.591C>G (p.Gly197=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232030	NM_000535.7(PMS2):c.509A>T (p.His170Leu)	PMS2 (H170L +5 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232028	NM_000535.7(PMS2):c.375C>G (p.Cys125Trp)	PMS2 (C125W +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232027	NM_000535.7(PMS2):c.373T>C (p.Cys125Arg)	PMS2 (C125R +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232026	NM_000535.7(PMS2):c.354-4A>T	PMS2 (H14L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232025	NM_000535.7(PMS2):c.341T>C (p.Leu114Pro)	PMS2 (L114P +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232024	NM_000535.7(PMS2):c.330T>G (p.Ala110=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232023	NM_000535.7(PMS2):c.29A>G (p.Glu10Gly)	PMS2 (E10G +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232022	NM_000535.7(PMS2):c.2581C>T (p.Gln861Ter)	PMS2 (Q460* +28 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232021	NM_000535.7(PMS2):c.2573T>C (p.Val858Ala)	PMS2 (V457A +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232020	NM_000535.7(PMS2):c.2543C>A (p.Pro848Gln)	PMS2 (P447Q +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232019	NM_000535.7(PMS2):c.2517C>G (p.His839Gln)	PMS2 (H438Q +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232018	NM_000535.7(PMS2):c.249A>T (p.Leu83Phe)	PMS2 (L145F +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232017	NM_000535.7(PMS2):c.2470A>T (p.Thr824Ser)	PMS2 (T423S +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232016	NM_000535.7(PMS2):c.245G>A (p.Gly82Asp)	PMS2 (G144D +1 more)	Single nucleotide variant (missense variant +4 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232015	NM_000535.7(PMS2):c.2458A>T (p.Thr820Ser)	PMS2 (T419S +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232014	NM_000535.7(PMS2):c.2450T>C (p.Met817Thr)	PMS2 (M416T +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232013	NM_000535.7(PMS2):c.233A>C (p.Glu78Ala)	PMS2 (E140A +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232012	NM_000535.7(PMS2):c.2325C>G (p.Asn775Lys)	PMS2 (N374K +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232011	NM_000535.7(PMS2):c.2307C>A (p.Ser769=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232010	NM_000535.7(PMS2):c.2278C>G (p.Pro760Ala)	PMS2 (P359A +26 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232009	NM_000535.7(PMS2):c.225A>G (p.Val75=)	PMS2 (R4G)	Single nucleotide variant (synonymous variant +4 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232008	NM_000535.7(PMS2):c.2253T>A (p.Phe751Leu)	PMS2 (F350L +21 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232007	NM_000535.7(PMS2):c.2232A>C (p.Glu744Asp)	PMS2 (E589D +21 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232006	NM_000535.7(PMS2):c.2202T>A (p.Val734=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232004	NM_000535.7(PMS2):c.2168T>A (p.Leu723His)	PMS2 (L322H +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232003	NM_000535.7(PMS2):c.2159G>T (p.Gly720Val)	PMS2 (G319V +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232002	NM_000535.7(PMS2):c.2143C>A (p.His715Asn)	PMS2 (H314N +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232001	NM_000535.7(PMS2):c.2119T>A (p.Tyr707Asn)	PMS2 (Y306N +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231999	NM_000535.7(PMS2):c.2064A>C (p.Ile688=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231998	NM_000535.7(PMS2):c.2057T>G (p.Phe686Cys)	PMS2 (F285C +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231997	NM_000535.7(PMS2):c.2051T>A (p.Leu684Gln)	PMS2 (L283Q +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231996	NM_000535.7(PMS2):c.2039G>T (p.Gly680Val)	PMS2 (G279V +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231995	NM_000535.7(PMS2):c.2001del (p.Glu667_Ile668insTer)	PMS2	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231994	NM_000535.7(PMS2):c.1945A>G (p.Arg649Gly)	PMS2 (R338G +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231993	NM_000535.7(PMS2):c.1929G>C (p.Gln643His)	PMS2 (Q332H +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231992	NM_000535.7(PMS2):c.1894T>C (p.Leu632=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231991	NM_000535.7(PMS2):c.1892A>G (p.Gln631Arg)	PMS2 (Q320R +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231990	NM_000535.7(PMS2):c.1888A>T (p.Lys630Ter)	PMS2 (K319* +19 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231988	NM_000535.7(PMS2):c.1837A>G (p.Lys613Glu)	PMS2 (K302E +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231987	NM_000535.7(PMS2):c.1830A>C (p.Lys610Asn)	PMS2 (K299N +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231986	NM_000535.7(PMS2):c.1784T>A (p.Val595Glu)	PMS2 (V284E +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231985	NM_000535.7(PMS2):c.174T>C (p.Leu58=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231984	NM_000535.7(PMS2):c.1635T>C (p.Ser545=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231983	NM_000535.7(PMS2):c.1624del (p.Thr542fs)	PMS2 (T231fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231982	NM_000535.7(PMS2):c.1620T>G (p.Pro540=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231981	NM_000535.7(PMS2):c.159T>C (p.Asn53=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231980	NM_000535.7(PMS2):c.1590G>A (p.Gln530=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231979	NM_000535.7(PMS2):c.1515G>C (p.Gly505=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231978	NM_000535.7(PMS2):c.1505A>T (p.Asp502Val)	PMS2 (D191V +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231976	NM_000535.7(PMS2):c.1398C>A (p.Gly466=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231974	NM_000535.7(PMS2):c.1145-4T>G	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231972	NM_000535.7(PMS2):c.1109T>A (p.Leu370Gln)	PMS2 (L113Q +14 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231971	NM_000535.7(PMS2):c.1105A>G (p.Lys369Glu)	PMS2 (K112E +14 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3215870	NM_000535.7(PMS2):c.89A>C (p.Gln30Pro)	PMS2 (Q30P +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3215869	NM_000535.7(PMS2):c.706-547A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3215868	NM_000535.7(PMS2):c.2336G>A (p.Gly779Glu)	PMS2 (G522E +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148726	NM_000535.7(PMS2):c.1146_1147dup (p.Asn383fs)	PMS2 (N212fs +19 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4	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	GLikely pathogenic
Select item 3076174	NM_000535.7(PMS2):c.2275+18A>T	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076173	NM_000535.7(PMS2):c.2189A>G (p.Asn730Ser)	PMS2 (N329S +21 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076172	NM_000535.7(PMS2):c.2177C>G (p.Pro726Arg)	PMS2 (P325R +21 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076171	NM_000535.7(PMS2):c.1751T>C (p.Ile584Thr)	PMS2 (I273T +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076170	NM_000535.7(PMS2):c.163G>A (p.Asp55Asn)	PMS2 (D117N +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076169	NM_000535.7(PMS2):c.146C>A (p.Ala49Asp)	PMS2 (A111D +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076168	NM_000535.7(PMS2):c.1213T>G (p.Ser405Ala)	PMS2 (S148A +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076167	NM_000535.7(PMS2):c.1184C>A (p.Pro395His)	PMS2 (P138H +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076166	NM_000535.7(PMS2):c.1144+13C>T	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076013	NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)	PMS2 (S113* +2 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome	GPathogenic
Select item 3075799	NM_000535.7(PMS2):c.2350del (p.Asp784fs)	PMS2 (D383fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3075777	NM_000535.7(PMS2):c.13dup (p.Glu5fs)	PMS2 (E5fs)	Duplication (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075776	NM_000535.7(PMS2):c.63_75del (p.Ser22fs)	PMS2 (S22fs +1 more)	Deletion (frameshift variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 3075775	NM_000535.7(PMS2):c.559dup (p.Val187fs)	PMS2 (V187fs +5 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075525	NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)	PMS2 (K102R +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075498	NM_000535.7(PMS2):c.1193A>G (p.Glu398Gly)	PMS2 (E141G +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075212	NM_000535.7(PMS2):c.122A>T (p.Glu41Val)	PMS2 (E103V +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3074794	NM_000535.7(PMS2):c.446A>G (p.Tyr149Cys)	PMS2 (Y149C +5 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3074526	NM_000535.7(PMS2):c.1643A>T (p.Asp548Val)	PMS2 (D237V +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073783	NM_000535.7(PMS2):c.1585T>A (p.Ser529Thr)	PMS2 (S218T +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072453	NM_000535.7(PMS2):c.1100T>C (p.Val367Ala)	PMS2 (V110A +14 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3071493	NM_000535.7(PMS2):c.1158A>G (p.Lys386=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3071270	NM_000535.7(PMS2):c.931C>A (p.His311Asn)	PMS2 (H120N +13 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3070568	NM_000535.7(PMS2):c.1497T>C (p.Thr499=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3070540	NM_000535.7(PMS2):c.1882C>A (p.Arg628=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3070206	NM_000535.7(PMS2):c.23+24G>A	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome	GLikely benign
Select item 3070140	NM_000535.7(PMS2):c.824A>T (p.Gln275Leu)	PMS2 (Q104L +10 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3069622	NM_000535.7(PMS2):c.408G>T (p.Met136Ile)	PMS2 (M136I +5 more)	Single nucleotide variant (missense variant +4 more)	Lynch syndrome	GUncertain significance
Select item 3069360	NM_000535.7(PMS2):c.706-3_706-2insT	PMS2	Insertion (intron variant)	Lynch syndrome	GLikely benign
Select item 3067695	NM_000535.7(PMS2):c.1655A>T (p.His552Leu)	PMS2 (H241L +19 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 3063864	NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)	PMS2	Insertion (nonsense +4 more)	Hereditary nonpolyposis colon cancer	GPathogenic

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