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 3342008	NM_002875.5(RAD51):c.26C>T (p.Ala9Val)	RAD51 (A9V)	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 3222848	NM_002875.5(RAD51):c.32C>T (p.Ala11Val)	RAD51 (A11V)	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 3312361	NM_002875.5(RAD51):c.34G>A (p.Asp12Asn)	RAD51 (D12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3312355	NM_002875.5(RAD51):c.42A>T (p.Ser14=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3222854	NM_002875.5(RAD51):c.43G>C (p.Val15Leu)	RAD51 (V15L)	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 disorder	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 3312348	NM_002875.5(RAD51):c.66A>G (p.Pro22=)	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 3222868	NM_002875.5(RAD51):c.72C>G (p.Pro24=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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)	not provided +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 3151033	NM_002875.5(RAD51):c.101A>C (p.Asn34Thr)	RAD51 (N34T)	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 3222838	NM_002875.5(RAD51):c.105C>T (p.Ala35=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3312354	NM_002875.5(RAD51):c.119A>C (p.Lys40Thr)	RAD51 (K40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3222839	NM_002875.5(RAD51):c.121T>A (p.Leu41Met)	RAD51 (L41M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	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)	Inborn genetic diseases +1 more	GLikely benign
Select item 3312362	NM_002875.5(RAD51):c.149A>C (p.Glu50Ala)	RAD51 (E50A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3369271	NM_002875.5(RAD51):c.155T>C (p.Val52Ala)	RAD51 (V52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3222840	NM_002875.5(RAD51):c.161A>G (p.Tyr54Cys)	RAD51 (Y54C)	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	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	GUncertain significance
Select item 3312366	NM_002875.5(RAD51):c.169A>C (p.Lys57Gln)	RAD51 (K57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3312358	NM_002875.5(RAD51):c.186T>G (p.Asn62Lys)	RAD51 (N62K)	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 3222841	NM_002875.5(RAD51):c.198T>C (p.Ile66=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3222842	NM_002875.5(RAD51):c.215A>C (p.Asp72Ala)	RAD51 (D72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312351	NM_002875.5(RAD51):c.219A>G (p.Lys73=)	RAD51	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3352656	NM_002875.5(RAD51):c.225+598_225+601del	RAD51	Deletion (intron variant)	RAD51-related disorder	GLikely benign
Select item 3352521	NM_002875.5(RAD51):c.225+595_225+601del	RAD51	Deletion (intron variant)	RAD51-related disorder	GLikely benign
Select item 3043549	NM_002875.5(RAD51):c.225+599_225+601del	RAD51	Deletion (intron variant)	RAD51-related disorder	GLikely benign
Select item 3042565	NM_002875.5(RAD51):c.225+601del	RAD51	Deletion (intron variant)	RAD51-related disorder	GLikely benign
Select item 1197702	NM_002875.5(RAD51):c.225+600_225+601del	RAD51	Deletion (intron variant)	not provided	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

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