9822[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 584555	NM_133510.4(RAD51B):c.7A>G (p.Ser3Gly)	RAD51B (S3G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 584553	NM_133510.4(RAD51B):c.25G>A (p.Val9Met)	RAD51B (V9M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 221910	NM_133510.4(RAD51B):c.84G>A (p.Gln28=)	RAD51B	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 1292857	NM_133510.4(RAD51B):c.84+25T>C	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264893	NM_133510.4(RAD51B):c.84+28T>G	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 523157	GRCh38/hg38 14q24.1(chr14:67823656-68813174)x1	LOC130055918, LOC130055919 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 1270487	NM_133510.4(RAD51B):c.84+82T>C	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271766	NM_133510.4(RAD51B):c.84+120G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259949	NM_133510.4(RAD51B):c.84+176T>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238204	NM_133510.4(RAD51B):c.85-283C>T	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270763	NM_133510.4(RAD51B):c.85-274G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241170	NM_133510.4(RAD51B):c.85-218T>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223992	NM_133510.4(RAD51B):c.85-62T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 714335	NM_133510.4(RAD51B):c.91T>C (p.Leu31=)	RAD51B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 224591	NM_133510.4(RAD51B):c.139C>T (p.Arg47Ter)	RAD51B (R47* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1248492	NM_133510.4(RAD51B):c.199-33G>T	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1270868	NM_133510.4(RAD51B):c.199-22dup	RAD51B	Duplication (intron variant)	not provided	GBenign
Select item 1231988	NM_133510.4(RAD51B):c.199-21C>T	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 830255	NM_133510.4(RAD51B):c.203A>G (p.Tyr68Cys)	RAD51B (Y30C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 584552	NM_133510.4(RAD51B):c.226G>A (p.Ala76Thr)	RAD51B (A76T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 726378	NM_133510.4(RAD51B):c.315+8A>G	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1296249	NM_133510.4(RAD51B):c.315+214A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183458	NM_133510.4(RAD51B):c.316-283G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264510	NM_133510.4(RAD51B):c.316-45A>T	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 3056969	NM_133510.4(RAD51B):c.316-14_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition	GLikely benign
Select item 3054260	NM_133510.4(RAD51B):c.316-19_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition	GLikely benign
Select item 3048756	NM_133510.4(RAD51B):c.316-13_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition	GLikely benign
Select item 3038600	NM_133510.4(RAD51B):c.316-6_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition	GLikely benign
Select item 3033284	NM_133510.4(RAD51B):c.316-12_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition	GLikely benign
Select item 2644342	NM_133510.4(RAD51B):c.316-16_316-3dup	RAD51B	Duplication (intron variant)	not provided	GLikely benign
Select item 2644341	NM_133510.4(RAD51B):c.316-10_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition +1 more	GBenign/Likely benign
Select item 2644340	NM_133510.4(RAD51B):c.316-9_316-3dup	RAD51B	Duplication (intron variant)	RAD51B-related condition +1 more	GBenign/Likely benign
Select item 3057100	NM_133510.4(RAD51B):c.316-7_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3056035	NM_133510.4(RAD51B):c.316-17_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3055947	NM_133510.4(RAD51B):c.316-18_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3044143	NM_133510.4(RAD51B):c.316-27_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3040588	NM_133510.4(RAD51B):c.316-16_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3038249	NM_133510.4(RAD51B):c.316-8_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3037983	NM_133510.4(RAD51B):c.316-15_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3037667	NM_133510.4(RAD51B):c.316-11_316-3del	RAD51B	Deletion (intron variant)	RAD51B-related condition	GLikely benign
Select item 3026354	NM_133510.4(RAD51B):c.316-12_316-3del	RAD51B	Deletion (intron variant)	not provided	GLikely benign
Select item 2622538	NM_133510.4(RAD51B):c.358A>G (p.Met120Val)	RAD51B (M120V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220949	NM_133510.4(RAD51B):c.361A>T (p.Met121Leu)	RAD51B (M121L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678945	NM_133510.4(RAD51B):c.436G>A (p.Ala146Thr)	RAD51B (A108T +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1676677	NM_133510.4(RAD51B):c.452+2T>C	RAD51B	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 224592	NM_133510.4(RAD51B):c.452+3A>G	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1678946	NM_133510.4(RAD51B):c.452+32T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1229156	NM_133510.4(RAD51B):c.452+246C>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic
Select item 1283496	NM_133510.4(RAD51B):c.453-263A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678947	NM_133510.4(RAD51B):c.453-32_453-31del	RAD51B	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1258325	NM_133510.4(RAD51B):c.453-26G>A	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1678948	NM_133510.4(RAD51B):c.453-10del	RAD51B	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678949	NM_133510.4(RAD51B):c.476G>A (p.Arg159His)	RAD51B (R121H +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1264669	NM_133510.4(RAD51B):c.515T>G (p.Leu172Trp)	RAD51B (L134W +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1678950	NM_133510.4(RAD51B):c.523A>C (p.Ser175Arg)	RAD51B (S137R +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 2241565	NM_133510.4(RAD51B):c.529G>C (p.Val177Leu)	RAD51B (V177L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710709	NM_133510.4(RAD51B):c.539A>G (p.Tyr180Cys)	RAD51B (Y61C +2 more)	Single nucleotide variant (missense variant)	RAD51B-related condition +1 more	GBenign
Select item 3031670	NM_133510.4(RAD51B):c.541C>T (p.Arg181Trp)	RAD51B (R143W +2 more)	Single nucleotide variant (missense variant)	RAD51B-related condition	GLikely benign
Select item 1230269	NM_133510.4(RAD51B):c.572+200G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 830256	NM_133510.4(RAD51B):c.579A>C (p.Glu193Asp)	RAD51B (E155D +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 584554	NM_133510.4(RAD51B):c.619G>T (p.Val207Leu)	RAD51B (V207L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1678951	NM_133510.4(RAD51B):c.699G>A (p.Lys233=)	RAD51B	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 783691	NM_133510.4(RAD51B):c.714G>A (p.Glu238=)	RAD51B	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 2389640	NM_133510.4(RAD51B):c.727A>G (p.Lys243Glu)	RAD51B (K205E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678952	NM_133510.4(RAD51B):c.728A>G (p.Lys243Arg)	RAD51B (K124R +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1678953	NM_133510.4(RAD51B):c.748T>G (p.Ser250Ala)	RAD51B (S131A +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 1678954	NM_133510.4(RAD51B):c.756+18T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1243504	NM_133510.4(RAD51B):c.756+231C>T	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148906	GRCh38/hg38 14q24.1(chr14:67900037-68575051)x3	LOC108281166, LOC110121358 +31 more	Copy number gain	See cases	GUncertain significance
Select item 223994	NM_133510.4(RAD51B):c.756+112979T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1231625	NM_133510.4(RAD51B):c.757-98420A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225821	NM_133510.4(RAD51B):c.757-98173T>C	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223995	NM_133510.4(RAD51B):c.757-92T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1271467	NM_133510.4(RAD51B):c.757-83T>C	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228217	NM_133510.4(RAD51B):c.757-49T>C	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243637	NM_133510.4(RAD51B):c.757-26T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 2237550	NM_133510.4(RAD51B):c.796G>A (p.Ala266Thr)	RAD51B (A228T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 830273	NM_133510.4(RAD51B):c.802G>C (p.Ala268Pro)	RAD51B (A149P +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1678955	NM_133510.4(RAD51B):c.843C>T (p.Ser281=)	RAD51B	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 162174	NM_133510.4(RAD51B):c.853+26380G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 223991	NM_133510.4(RAD51B):c.854-24328T>C	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223993	NM_133510.4(RAD51B):c.854-24150C>A	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1248963	NM_133510.4(RAD51B):c.854-103A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2400760	NM_133510.4(RAD51B):c.868A>G (p.Ser290Gly)	RAD51B (S171G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300493	NM_133510.4(RAD51B):c.877A>G (p.Ile293Val)	RAD51B (I293V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379095	NM_133510.4(RAD51B):c.879A>G (p.Ile293Met)	RAD51B (I174M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678956	NM_133510.4(RAD51B):c.914A>T (p.Asn305Ile)	RAD51B (N186I +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2490808	NM_133510.4(RAD51B):c.919C>G (p.Arg307Gly)	RAD51B (R307G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203761	NM_133510.4(RAD51B):c.957G>A (p.Gln319=)	RAD51B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1183734	NM_133510.4(RAD51B):c.957+125C>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281658	NM_133510.4(RAD51B):c.957+338A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181212	NM_133510.4(RAD51B):c.958-199A>G	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223989	NM_133510.4(RAD51B):c.958-29A>T	RAD51B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 584556	NM_133510.4(RAD51B):c.976C>G (p.Pro326Ala)	RAD51B (P326A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 584557	NM_133510.4(RAD51B):c.983C>T (p.Ala328Val)	RAD51B (A328V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 584550	NM_133510.4(RAD51B):c.1036+5G>A	RAD51B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291091	NM_133510.4(RAD51B):c.1036+145G>A	RAD51B	Single nucleotide variant (intron variant)	not provided	GBenign

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