5888[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153596	GRCh38/hg38 15q15.1(chr15:40581118-40720039)x1	KNL1, LOC129390688 +8 more	Copy number loss	See cases	GUncertain significance
Select item 1235639	NM_002875.5(RAD51):c.-208G>C	RAD51	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1260767	NM_002875.5(RAD51):c.-207C>T	RAD51	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 13128	NM_002875.5(RAD51):c.-98G>C	LOC130056864, RAD51	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243349	NM_002875.5(RAD51):c.-61G>T	LOC130056864, RAD51	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1261176	NM_002875.5(RAD51):c.-3+102C>T	RAD51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 803070	NM_002875.5(RAD51):c.1dup (p.Met1fs)	RAD51 (M1fs)	Duplication (frameshift variant +1 more)	Hereditary cancer	GLikely benign
Select item 2462699	NM_002875.5(RAD51):c.6A>C (p.Ala2=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2892632	NM_002875.5(RAD51):c.7A>G (p.Met3Val)	RAD51 (M3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560841	NM_002875.5(RAD51):c.8T>C (p.Met3Thr)	RAD51 (M3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768932	NM_002875.5(RAD51):c.9G>A (p.Met3Ile)	RAD51 (M3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462660	NM_002875.5(RAD51):c.10C>A (p.Gln4Lys)	RAD51 (Q4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776159	NM_002875.5(RAD51):c.15G>T (p.Met5Ile)	RAD51 (M5I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2875220	NM_002875.5(RAD51):c.20T>C (p.Leu7Pro)	RAD51 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1797408	NM_002875.5(RAD51):c.28A>G (p.Asn10Asp)	RAD51 (N10D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1729947	NM_002875.5(RAD51):c.32C>G (p.Ala11Gly)	RAD51 (A11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1731005	NM_002875.5(RAD51):c.33A>C (p.Ala11=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2624692	NM_002875.5(RAD51):c.35A>G (p.Asp12Gly)	RAD51 (D12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743926	NM_002875.5(RAD51):c.48A>G (p.Glu16=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2636942	NM_002875.5(RAD51):c.53_69delinsTATCTTCTT (p.Glu18fs)	RAD51 (E18fs)	Indel (frameshift variant)	RAD51-related condition	GLikely pathogenic
Select item 1748545	NM_002875.5(RAD51):c.55A>G (p.Ser19Gly)	RAD51 (S19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753305	NM_002875.5(RAD51):c.63C>T (p.Gly21=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1756543	NM_002875.5(RAD51):c.69A>G (p.Gln23=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1757166	NM_002875.5(RAD51):c.70C>T (p.Pro24Ser)	RAD51 (P24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757164	NM_002875.5(RAD51):c.70C>G (p.Pro24Ala)	RAD51 (P24A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757651	NM_002875.5(RAD51):c.71C>T (p.Pro24Leu)	RAD51 (P24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761569	NM_002875.5(RAD51):c.79C>T (p.Arg27Trp)	RAD51 (R27W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761997	NM_002875.5(RAD51):c.80G>A (p.Arg27Gln)	RAD51 (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1337806	NM_002875.5(RAD51):c.80G>T (p.Arg27Leu)	RAD51 (R27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763622	NM_002875.5(RAD51):c.84A>G (p.Leu28=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2560843	NM_002875.5(RAD51):c.86A>G (p.Glu29Gly)	RAD51 (E29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2872320	NM_002875.5(RAD51):c.87+17T>C	RAD51	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271457	NM_002875.5(RAD51):c.87+110A>G	RAD51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317102	NM_002875.5(RAD51):c.87+290G>A	RAD51	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274663	NM_002875.5(RAD51):c.88-257del	RAD51	Deletion (intron variant)	not provided	GBenign
Select item 1765806	NM_002875.5(RAD51):c.90G>A (p.Gln30=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767181	NM_002875.5(RAD51):c.94G>T (p.Gly32Cys)	RAD51 (G32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776537	NM_002875.5(RAD51):c.104C>A (p.Ala35Asp)	RAD51 (A35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788830	NM_002875.5(RAD51):c.108C>T (p.Asn36=)	RAD51	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2497667	NM_002875.5(RAD51):c.109G>C (p.Asp37His)	RAD51 (D37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336983	NM_002875.5(RAD51):c.109G>A (p.Asp37Asn)	RAD51 (D37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624691	NM_002875.5(RAD51):c.110A>T (p.Asp37Val)	RAD51 (D37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1797459	NM_002875.5(RAD51):c.111T>C (p.Asp37=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1752841	NM_002875.5(RAD51):c.121T>C (p.Leu41=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2502043	NM_002875.5(RAD51):c.122T>G (p.Leu41Trp)	RAD51 (L41W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585950	NM_002875.5(RAD51):c.131C>G (p.Ala44Gly)	RAD51 (A44G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462650	NM_002875.5(RAD51):c.131C>T (p.Ala44Val)	RAD51 (A44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770122	NM_002875.5(RAD51):c.132T>C (p.Ala44=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2585945	NM_002875.5(RAD51):c.133G>A (p.Gly45Arg)	RAD51 (G45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771498	NM_002875.5(RAD51):c.138C>G (p.Phe46Leu)	RAD51 (F46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 187802	NM_002875.5(RAD51):c.140A>G (p.His47Arg)	RAD51 (H47R)	Single nucleotide variant (missense variant)	Mirror movements 2	Gnot provided
Select item 2565486	NM_002875.5(RAD51):c.143C>A (p.Thr48Asn)	RAD51 (T48N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743937	NM_002875.5(RAD51):c.144T>C (p.Thr48=)	RAD51	Single nucleotide variant (synonymous variant)	RAD51-related condition +2 more	GLikely benign
Select item 2450851	NM_002875.5(RAD51):c.158C>G (p.Ala53Gly)	RAD51 (A53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776805	NM_002875.5(RAD51):c.162T>C (p.Tyr54=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 730047	NM_002875.5(RAD51):c.164C>T (p.Ala55Val)	RAD51 (A55V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1777460	NM_002875.5(RAD51):c.165G>T (p.Ala55=)	RAD51	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1777453	NM_002875.5(RAD51):c.165G>A (p.Ala55=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2192569	NM_002875.5(RAD51):c.166C>T (p.Pro56Ser)	RAD51 (P56S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1777870	NM_002875.5(RAD51):c.167C>T (p.Pro56Leu)	RAD51 (P56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2712782	NM_002875.5(RAD51):c.170A>G (p.Lys57Arg)	RAD51 (K57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1781467	NM_002875.5(RAD51):c.185A>G (p.Asn62Ser)	RAD51 (N62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497666	NM_002875.5(RAD51):c.189T>G (p.Ile63Met)	RAD51 (I63M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695556	NM_002875.5(RAD51):c.200G>A (p.Ser67Asn)	RAD51 (S67N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2450862	NM_002875.5(RAD51):c.204A>C (p.Glu68Asp)	RAD51 (E68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624695	NM_002875.5(RAD51):c.205G>A (p.Ala69Thr)	RAD51 (A69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785206	NM_002875.5(RAD51):c.205G>C (p.Ala69Pro)	RAD51 (A69P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462720	NM_002875.5(RAD51):c.210A>G (p.Lys70=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1786729	NM_002875.5(RAD51):c.214G>T (p.Asp72Tyr)	RAD51 (D72Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1211769	NM_002875.5(RAD51):c.225+190dup	RAD51	Duplication (intron variant)	not provided	GLikely benign
Select item 1227276	NM_002875.5(RAD51):c.225+190del	RAD51	Deletion (intron variant)	not provided	GBenign
Select item 1263531	NM_002875.5(RAD51):c.225+311C>T	RAD51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212546	NM_002875.5(RAD51):c.225+314C>T	RAD51	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196008	NM_002875.5(RAD51):c.225+426G>T	RAD51	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3043549	NM_002875.5(RAD51):c.225+599_225+601del	RAD51	Deletion (intron variant)	RAD51-related condition	GLikely benign
Select item 3042565	NM_002875.5(RAD51):c.225+601del	RAD51	Deletion (intron variant)	RAD51-related condition	GLikely benign
Select item 1197702	NM_002875.5(RAD51):c.225+600_225+601del	RAD51	Deletion (intron variant)	RAD51-related condition +1 more	GLikely benign
Select item 2645182	NM_002875.5(RAD51):c.225+607G>A	RAD51	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1050071	NM_002875.5(RAD51):c.225+615G>A	RAD51 (R79H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067851	NM_002875.5(RAD51):c.225+633A>C	RAD51 (E85A)	Single nucleotide variant (missense variant +1 more)	Mirror movements 2	GUncertain significance
Select item 2645183	NM_002875.5(RAD51):c.225+668C>T	RAD51 (R97C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2645184	NM_002875.5(RAD51):c.225+685T>C	RAD51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672583	NM_002875.5(RAD51):c.225+708G>A	RAD51 (R110Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3041826	NM_002875.5(RAD51):c.225+716G>A	RAD51 (G113R)	Single nucleotide variant (missense variant +1 more)	RAD51-related condition	GLikely benign
Select item 2445281	NM_002875.5(RAD51):c.225+719A>C	RAD51 (T114P)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 1294574	NM_002875.5(RAD51):c.225+893_225+896del	RAD51	Microsatellite (intron variant)	not provided	GBenign
Select item 1231871	NM_002875.5(RAD51):c.226-72del	RAD51	Deletion (intron variant)	not provided	GBenign
Select item 1230848	NM_002875.5(RAD51):c.226-70T>A	RAD51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255257	NM_002875.5(RAD51):c.226-33T>G	RAD51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1788908	NM_002875.5(RAD51):c.227C>G (p.Ala76Gly)	RAD51 (A76G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624694	NM_002875.5(RAD51):c.230A>G (p.Glu77Gly)	RAD51 (E77G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1789835	NM_002875.5(RAD51):c.233C>T (p.Ala78Val)	RAD51 (A78V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2129847	NM_002875.5(RAD51):c.236C>T (p.Ala79Val)	RAD51 (A79V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2592708	NM_002875.5(RAD51):c.238A>G (p.Lys80Glu)	RAD51 (K80E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585946	NM_002875.5(RAD51):c.239A>C (p.Lys80Thr)	RAD51 (K80T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1791156	NM_002875.5(RAD51):c.242T>C (p.Leu81Ser)	RAD51 (L81S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1791466	NM_002875.5(RAD51):c.244G>A (p.Val82Ile)	RAD51 (V82I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792044	NM_002875.5(RAD51):c.248C>G (p.Pro83Arg)	RAD51 (P83R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2450854	NM_002875.5(RAD51):c.249A>T (p.Pro83=)	RAD51	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1792359	NM_002875.5(RAD51):c.250A>G (p.Met84Val)	RAD51 (M84V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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