RAD50[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 1288553	NC_000005.10:g.132556665C>T	IL5, RAD50	Single nucleotide variant	not provided	GBenign
Select item 417429	NC_000005.10:g.(?_132556924)_(132557453_?)del	RAD50	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 417427	NC_000005.10:g.(?_132556924)_(132644621_?)del	RAD50, TH2-LCR +1 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 126992	NM_005732.4(RAD50):c.-284C>A	RAD50	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided
Select item 182824	NM_005732.4(RAD50):c.-38=	RAD50	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 662868	NC_000005.10:g.(?_132557315)_(132642374_?)del	TH2-LCR, TH2LCRR +1 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
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)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 2834062	NM_005732.4(RAD50):c.4T>C (p.Ser2Pro)	RAD50 (S2P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2001322	NM_005732.4(RAD50):c.4T>G (p.Ser2Ala)	RAD50 (S2A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 527368	NM_005732.4(RAD50):c.5C>T (p.Ser2Phe)	RAD50 (S2F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
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 1411080	NM_005732.4(RAD50):c.7C>T (p.Arg3Trp)	RAD50 (R3W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1052755	NM_005732.4(RAD50):c.8G>A (p.Arg3Gln)	RAD50 (R3Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1423772	NM_005732.4(RAD50):c.17del (p.Lys6fs)	RAD50 (K6fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 837967	NM_005732.4(RAD50):c.14A>G (p.Glu5Gly)	RAD50 (E5G)	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 2071944	NM_005732.4(RAD50):c.17A>G (p.Lys6Arg)	RAD50 (K6R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1046920	NM_005732.4(RAD50):c.18G>C (p.Lys6Asn)	RAD50 (K6N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2877454	NM_005732.4(RAD50):c.19A>G (p.Met7Val)	RAD50 (M7V)	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 660570	NM_005732.4(RAD50):c.20T>C (p.Met7Thr)	RAD50 (M7T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2738698	NM_005732.4(RAD50):c.21G>A (p.Met7Ile)	RAD50 (M7I)	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 2820579	NM_005732.4(RAD50):c.25A>G (p.Ile9Val)	RAD50 (I9V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1372136	NM_005732.4(RAD50):c.25A>C (p.Ile9Leu)	RAD50 (I9L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 838367	NM_005732.4(RAD50):c.32_33delinsAA (p.Gly11Glu)	RAD50 (G11E)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 579399	NM_005732.4(RAD50):c.32G>A (p.Gly11Asp)	RAD50 (G11D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1974111	NM_005732.4(RAD50):c.34G>T (p.Val12Leu)	RAD50 (V12L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457454	NM_005732.4(RAD50):c.34G>A (p.Val12Met)	RAD50 (V12M)	Single nucleotide variant (missense variant)	Neuroepithelial tumor, PATZ1 fusion-positive +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 639818	NM_005732.4(RAD50):c.35T>G (p.Val12Gly)	RAD50 (V12G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 1663797	NM_005732.4(RAD50):c.39G>T (p.Arg13=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1354812	NM_005732.4(RAD50):c.40A>G (p.Ser14Gly)	RAD50 (S14G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 581937	NM_005732.4(RAD50):c.41G>A (p.Ser14Asn)	RAD50 (S14N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2861995	NM_005732.4(RAD50):c.45del (p.Phe15fs)	RAD50 (F15fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1491166	NM_005732.4(RAD50):c.42T>A (p.Ser14Arg)	RAD50 (S14R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1654816	NM_005732.4(RAD50):c.51A>C (p.Ile17=)	RAD50	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1058206	NM_005732.4(RAD50):c.52G>A (p.Glu18Lys)	RAD50 (E18K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 842928	NM_005732.4(RAD50):c.52G>T (p.Glu18Ter)	RAD50 (E18*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 480398	NM_005732.4(RAD50):c.53A>G (p.Glu18Gly)	RAD50 (E18G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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)	not provided +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 1072155	NM_005732.4(RAD50):c.62dup (p.Asp21fs)	RAD50 (D21fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2765122	NM_005732.4(RAD50):c.64A>G (p.Lys22Glu)	RAD50 (K22E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2105037	NM_005732.4(RAD50):c.64A>C (p.Lys22Gln)	RAD50 (K22Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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 2813695	NM_005732.4(RAD50):c.70del (p.Ile24fs)	RAD50 (I24fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1668830	NM_005732.4(RAD50):c.69A>G (p.Gln23=)	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 948760	NM_005732.4(RAD50):c.74T>C (p.Ile25Thr)	RAD50 (I25T)	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 2678149	NM_005732.4(RAD50):c.77C>G (p.Thr26Ser)	RAD50 (T26S)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 2041924	NM_005732.4(RAD50):c.80_83del (p.Phe27fs)	RAD50 (F27fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
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 1022792	NM_005732.4(RAD50):c.81C>G (p.Phe27Leu)	RAD50 (F27L)	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)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance

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