"Ambry Genetics"[submitter] AND "RAD50"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2451400	NM_005732.4(RAD50):c.-3A>G	RAD50	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820485	NM_005732.4(RAD50):c.-1C>T	RAD50	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229813	NM_005732.4(RAD50):c.1A>G (p.Met1Val)	RAD50 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 128024	NM_005732.4(RAD50):c.3G>A (p.Met1Ile)	RAD50 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1345270	NM_005732.4(RAD50):c.4T>A (p.Ser2Thr)	RAD50 (S2T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1645273	NM_005732.4(RAD50):c.6C>T (p.Ser2=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 527374	NM_005732.4(RAD50):c.8G>T (p.Arg3Leu)	RAD50 (R3L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2036766	NM_005732.4(RAD50):c.9G>C (p.Arg3=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1650814	NM_005732.4(RAD50):c.9G>A (p.Arg3=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 408413	NM_005732.4(RAD50):c.10A>G (p.Ile4Val)	RAD50 (I4V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1769356	NM_005732.4(RAD50):c.12C>T (p.Ile4=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1747232	NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)	RAD50 (E5*)	Indel (nonsense)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 818843	NM_005732.4(RAD50):c.12C>A (p.Ile4=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 233223	NM_005732.4(RAD50):c.13G>A (p.Glu5Lys)	RAD50 (E5K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819870	NM_005732.4(RAD50):c.16A>G (p.Lys6Glu)	RAD50 (K6E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2302468	NM_005732.4(RAD50):c.20T>A (p.Met7Lys)	RAD50 (M7K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790715	NM_005732.4(RAD50):c.23G>A (p.Ser8Asn)	RAD50 (S8N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185984	NM_005732.4(RAD50):c.24C>T (p.Ser8=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 232830	NM_005732.4(RAD50):c.33C>T (p.Gly11=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457454	NM_005732.4(RAD50):c.34G>A (p.Val12Met)	RAD50 (V12M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 230183	NM_005732.4(RAD50):c.34G>C (p.Val12Leu)	RAD50 (V12L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736004	NM_005732.4(RAD50):c.38G>A (p.Arg13Gln)	RAD50 (R13Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229855	NM_005732.4(RAD50):c.39G>C (p.Arg13=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 184128	NM_005732.4(RAD50):c.39G>A (p.Arg13=)	RAD50	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1740326	NM_005732.4(RAD50):c.43T>G (p.Phe15Val)	RAD50 (F15V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 565468	NM_005732.4(RAD50):c.45T>G (p.Phe15Leu)	RAD50 (F15L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1742542	NM_005732.4(RAD50):c.46G>A (p.Gly16Arg)	RAD50 (G16R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486247	NM_005732.4(RAD50):c.47G>A (p.Gly16Glu)	RAD50 (G16E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1487697	NM_005732.4(RAD50):c.49A>G (p.Ile17Val)	RAD50 (I17V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457477	NM_005732.4(RAD50):c.50T>C (p.Ile17Thr)	RAD50 (I17T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 480398	NM_005732.4(RAD50):c.53A>G (p.Glu18Gly)	RAD50 (E18G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 484656	NM_005732.4(RAD50):c.54G>A (p.Glu18=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 482122	NM_005732.4(RAD50):c.55G>A (p.Asp19Asn)	RAD50 (D19N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232740	NM_005732.4(RAD50):c.55G>T (p.Asp19Tyr)	RAD50 (D19Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 825906	NM_005732.4(RAD50):c.56A>G (p.Asp19Gly)	RAD50 (D19G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486255	NM_005732.4(RAD50):c.57C>T (p.Asp19=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 826042	NM_005732.4(RAD50):c.58A>G (p.Lys20Glu)	RAD50 (K20E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482145	NM_005732.4(RAD50):c.59A>G (p.Lys20Arg)	RAD50 (K20R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565947	NM_005732.4(RAD50):c.61G>C (p.Asp21His)	RAD50 (D21H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1044712	NM_005732.4(RAD50):c.61G>A (p.Asp21Asn)	RAD50 (D21N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1752707	NM_005732.4(RAD50):c.62A>G (p.Asp21Gly)	RAD50 (D21G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482114	NM_005732.4(RAD50):c.62A>T (p.Asp21Val)	RAD50 (D21V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 408398	NM_005732.4(RAD50):c.63T>G (p.Asp21Glu)	RAD50 (D21E)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 1754981	NM_005732.4(RAD50):c.66G>A (p.Lys22=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480471	NM_005732.4(RAD50):c.72del (p.Ile25fs)	RAD50 (I25fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 577090	NM_005732.4(RAD50):c.73A>G (p.Ile25Val)	RAD50 (I25V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1759724	NM_005732.4(RAD50):c.75C>G (p.Ile25Met)	RAD50 (I25M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457489	NM_005732.4(RAD50):c.75C>T (p.Ile25=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760197	NM_005732.4(RAD50):c.76A>G (p.Thr26Ala)	RAD50 (T26A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1471640	NM_005732.4(RAD50):c.77C>T (p.Thr26Ile)	RAD50 (T26I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 763763	NM_005732.4(RAD50):c.81C>T (p.Phe27=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457491	NM_005732.4(RAD50):c.81C>A (p.Phe27Leu)	RAD50 (F27L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482125	NM_005732.4(RAD50):c.85A>G (p.Ser29Gly)	RAD50 (S29G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1019043	NM_005732.4(RAD50):c.86G>T (p.Ser29Ile)	RAD50 (S29I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 480480	NM_005732.4(RAD50):c.87C>T (p.Ser29=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 822806	NM_005732.4(RAD50):c.88C>T (p.Pro30Ser)	RAD50 (P30S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1352807	NM_005732.4(RAD50):c.89C>T (p.Pro30Leu)	RAD50 (P30L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822882	NM_005732.4(RAD50):c.89C>G (p.Pro30Arg)	RAD50 (P30R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1156584	NM_005732.4(RAD50):c.90C>T (p.Pro30=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1766166	NM_005732.4(RAD50):c.91C>T (p.Leu31Phe)	RAD50 (L31F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141279	NM_005732.4(RAD50):c.94dup (p.Thr32fs)	RAD50 (T32fs)	Duplication (frameshift variant)	Nijmegen breakage syndrome-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 457493	NM_005732.4(RAD50):c.94A>T (p.Thr32Ser)	RAD50 (T32S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823361	NM_005732.4(RAD50):c.95C>A (p.Thr32Lys)	RAD50 (T32K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484712	NM_005732.4(RAD50):c.96A>G (p.Thr32=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1768244	NM_005732.4(RAD50):c.97A>G (p.Ile33Val)	RAD50 (I33V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 408369	NM_005732.4(RAD50):c.98T>G (p.Ile33Ser)	RAD50 (I33S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224928	NM_005732.4(RAD50):c.100T>G (p.Leu34Val)	RAD50 (L34V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231840	NM_005732.4(RAD50):c.102G>A (p.Leu34=)	RAD50	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 1471793	NM_005732.4(RAD50):c.103G>A (p.Val35Ile)	RAD50 (V35I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486260	NM_005732.4(RAD50):c.103G>C (p.Val35Leu)	RAD50 (V35L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1564025	NM_005732.4(RAD50):c.105T>C (p.Val35=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 233967	NM_005732.4(RAD50):c.109C>T (p.Pro37Ser)	RAD50 (P37S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1463244	NM_005732.4(RAD50):c.110C>T (p.Pro37Leu)	RAD50 (P37L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230314	NM_005732.4(RAD50):c.113A>G (p.Asn38Ser)	RAD50 (N38S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 240208	NM_005732.4(RAD50):c.114T>A (p.Asn38Lys)	RAD50 (N38K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2005636	NM_005732.4(RAD50):c.118G>A (p.Ala40Thr)	RAD50 (A40T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482090	NM_005732.4(RAD50):c.119C>T (p.Ala40Val)	RAD50 (A40V)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 2167292	NM_005732.4(RAD50):c.120G>T (p.Ala40=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1539722	NM_005732.4(RAD50):c.120G>A (p.Ala40=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480453	NM_005732.4(RAD50):c.121G>A (p.Gly41Arg)	RAD50 (G41R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216617	NM_005732.4(RAD50):c.123A>T (p.Gly41=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 818763	NM_005732.4(RAD50):c.126G>C (p.Lys42Asn)	RAD50 (K42N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187528	NM_005732.4(RAD50):c.126G>A (p.Lys42=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 220322	NM_005732.4(RAD50):c.127A>G (p.Thr43Ala)	RAD50 (T43A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1769057	NM_005732.4(RAD50):c.128C>A (p.Thr43Lys)	RAD50 (T43K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484651	NM_005732.4(RAD50):c.128C>T (p.Thr43Met)	RAD50 (T43M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 644625	NM_005732.4(RAD50):c.129+1del	RAD50	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2036071	NM_005732.4(RAD50):c.129+1G>A	RAD50	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 527385	NM_005732.4(RAD50):c.129+1G>T	RAD50	Single nucleotide variant (splice donor variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely pathogenic
Select item 232569	NM_005732.4(RAD50):c.129+2T>A	RAD50	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 573097	NM_005732.4(RAD50):c.129+3A>G	RAD50	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 140976	NM_005732.4(RAD50):c.129+5G>A	RAD50	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 230801	NM_005732.4(RAD50):c.130-1G>T	RAD50	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 232646	NM_005732.4(RAD50):c.130A>T (p.Thr44Ser)	RAD50 (T44S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1769868	NM_005732.4(RAD50):c.131C>T (p.Thr44Ile)	RAD50 (T44I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457375	NM_005732.4(RAD50):c.131C>A (p.Thr44Asn)	RAD50 (T44N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219931	NM_005732.4(RAD50):c.132C>G (p.Thr44=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457376	NM_005732.4(RAD50):c.133A>G (p.Ile45Val)	RAD50 (I45V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185431	NM_005732.4(RAD50):c.134T>C (p.Ile45Thr)	RAD50 (I45T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 215852	NM_005732.4(RAD50):c.135C>T (p.Ile45=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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