"Sema4, Sema4"[submitter] AND "RAD50"[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 766321	NM_005732.4(RAD50):c.36G>A (p.Val12=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 140976	NM_005732.4(RAD50):c.129+5G>A	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 414961	NM_005732.4(RAD50):c.130-10A>G	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +2 more	GLikely benign
Select item 128007	NM_005732.4(RAD50):c.260G>A (p.Arg87His)	RAD50 (R87H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128012	NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	RAD50 (I94L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 482097	NM_005732.4(RAD50):c.287T>C (p.Val96Ala)	RAD50 (V96A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692907	NM_005732.4(RAD50):c.351C>A (p.Val117=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder	GLikely benign
Select item 1153144	NM_005732.4(RAD50):c.363A>G (p.Thr121=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 1692909	NM_005732.4(RAD50):c.366-13T>A	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +1 more	GConflicting classifications of pathogenicity
Select item 128023	NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	RAD50 (V127I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 184520	NM_005732.4(RAD50):c.426T>C (p.Ser142=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 142739	NM_005732.4(RAD50):c.511G>T (p.Ala171Ser)	RAD50 (A171S)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 480488	NM_005732.4(RAD50):c.548C>T (p.Thr183Ile)	RAD50 (T183I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 408410	NM_005732.4(RAD50):c.552-2A>C	RAD50	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely pathogenic
Select item 484675	NM_005732.4(RAD50):c.552-1G>A	RAD50	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 219996	NM_005732.4(RAD50):c.578G>A (p.Arg193Gln)	RAD50 (R193Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184289	NM_005732.4(RAD50):c.586C>T (p.Arg196Cys)	RAD50 (R196C)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 128026	NM_005732.4(RAD50):c.671G>A (p.Arg224His)	RAD50 (R224H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 128027	NM_005732.4(RAD50):c.673G>A (p.Asp225Asn)	RAD50 (D225N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1463421	NM_005732.4(RAD50):c.757-12C>A	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 653827	NM_005732.4(RAD50):c.829A>G (p.Ser277Gly)	RAD50 (S277G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1538141	NM_005732.4(RAD50):c.886-11G>T	RAD50	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 219495	NM_005732.4(RAD50):c.915T>C (p.Asn305=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +2 more	GConflicting classifications of pathogenicity
Select item 128028	NM_005732.4(RAD50):c.943G>T (p.Val315Leu)	RAD50 (V315L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 216633	NM_005732.4(RAD50):c.973T>C (p.Cys325Arg)	RAD50 (C325R)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 37380	NM_005732.4(RAD50):c.980G>A (p.Arg327His)	RAD50 (R327H)	Single nucleotide variant (missense variant)	RAD50-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 656432	NM_005732.4(RAD50):c.1088A>G (p.His363Arg)	RAD50 (H363R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692905	NM_005732.4(RAD50):c.1115A>C (p.Gln372Pro)	RAD50 (Q372P)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 185855	NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile)	RAD50 (L378I)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 1533252	NM_005732.4(RAD50):c.1143T>C (p.Asp381=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 187490	NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs)	RAD50 (Q404fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 127992	NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)	RAD50 (Q404R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127993	NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)	RAD50 (Q426R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 183910	NM_005732.4(RAD50):c.1284G>A (p.Gln428=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 408405	NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn)	RAD50 (S495N)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 127998	NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)	RAD50 (A512S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 141230	NM_005732.4(RAD50):c.1556G>T (p.Arg519Leu)	RAD50 (R519L)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 184618	NM_005732.4(RAD50):c.1602A>G (p.Thr534=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 37379	NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)	RAD50 (I555V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 186084	NM_005732.4(RAD50):c.1677C>T (p.His559=)	RAD50	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 234103	NM_005732.4(RAD50):c.1692C>G (p.Thr564=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480451	NM_005732.4(RAD50):c.1794-1G>A	RAD50	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 220719	NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	RAD50 (Y625*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 230653	NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys)	RAD50 (E650K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183912	NM_005732.4(RAD50):c.1992A>G (p.Ala664=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 183827	NM_005732.4(RAD50):c.2046C>T (p.Pro682=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 185548	NM_005732.4(RAD50):c.2047G>A (p.Val683Ile)	RAD50 (V683I)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 142438	NM_005732.4(RAD50):c.2091C>T (p.Val697=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +3 more	GBenign/Likely benign
Select item 1453893	NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer)	RAD50	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1692906	NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys)	RAD50 (S703C)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 230498	NM_005732.4(RAD50):c.2113C>T (p.Leu705=)	RAD50	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 141045	NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	RAD50 (E723fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 184917	NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)	RAD50	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 185454	NM_005732.4(RAD50):c.2203A>C (p.Met735Leu)	RAD50 (M735L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 128003	NM_005732.4(RAD50):c.2288G>A (p.Arg763His)	RAD50 (R763H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 183881	NM_005732.4(RAD50):c.2298C>T (p.Asn766=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 143022	NM_005732.4(RAD50):c.2314G>A (p.Glu772Lys)	RAD50 (E772K)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 408366	NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala)	RAD50 (T773A)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 128004	NM_005732.4(RAD50):c.2397G>C (p.Gln799His)	RAD50 (Q799H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128005	NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)	RAD50 (V842A)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 128006	NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)	RAD50 (R850C)	Single nucleotide variant (missense variant)	RAD50-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 128008	NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)	RAD50 (R883C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231122	NM_005732.4(RAD50):c.2658A>G (p.Gln886=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +2 more	GBenign/Likely benign
Select item 142441	NM_005732.4(RAD50):c.2670G>A (p.Gln890=)	RAD50	Single nucleotide variant (synonymous variant)	RAD50-related disorder +4 more	GBenign/Likely benign
Select item 184957	NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu)	RAD50 (G968E)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 128015	NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs)	RAD50 (E995fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 37381	NM_005732.4(RAD50):c.3036+5G>A	RAD50	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 186445	NM_005732.4(RAD50):c.3061A>G (p.Asn1021Asp)	RAD50 (N1021D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1460884	NM_005732.4(RAD50):c.3068C>T (p.Thr1023Ile)	RAD50 (T1023I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 548748	NM_005732.4(RAD50):c.3164+14del	RAD50	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 215509	NM_005732.4(RAD50):c.3165-8T>G	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 457437	NM_005732.4(RAD50):c.3191T>C (p.Ile1064Thr)	RAD50 (I1064T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 230977	NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile)	RAD50 (R1069I)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 128016	NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)	RAD50 (I1085V)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 141691	NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met)	RAD50 (I1109M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186970	NM_005732.4(RAD50):c.3342A>G (p.Thr1114=)	RAD50	Single nucleotide variant (synonymous variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 233174	NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)	RAD50, TH2-LCR +1 more (R1152*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 128019	NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)	RAD50, TH2-LCR +1 more (R1152Q)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 140973	NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln)	RAD50, TH2-LCR +1 more (R1198Q)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 1692908	NM_005732.4(RAD50):c.3618+5G>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 140979	NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln)	RAD50, TH2-LCR +1 more (R1239Q)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 568613	NM_005732.4(RAD50):c.3740A>G (p.His1247Arg)	RAD50, TH2-LCR +1 more (H1247R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 580171	NM_005732.4(RAD50):c.3752A>G (p.Glu1251Gly)	RAD50, TH2-LCR +1 more (E1251G)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 702951	NM_005732.4(RAD50):c.3752+7_3752+9dup	RAD50, TH2-LCR +1 more	Duplication (intron variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely benign
Select item 140930	NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)	TH2LCRR, RAD50 (L1264F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 232384	NM_005732.4(RAD50):c.3805C>T (p.His1269Tyr)	RAD50, TH2LCRR (H1269Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185783	NM_005732.4(RAD50):c.3839C>G (p.Ser1280Cys)	RAD50, TH2LCRR (S1280C)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 37384	NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)	RAD50, TH2LCRR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142255	NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn)	RAD50, TH2LCRR (D1294N)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +2 more	GConflicting classifications of pathogenicity
Select item 142902	NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg)	TH2LCRR, RAD50 (K1301R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 90