8438[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1751009	NM_003579.4(RAD54L):c.5G>C (p.Arg2Thr)	RAD54L (R2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593458	NM_003579.4(RAD54L):c.6G>A (p.Arg2=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1756624	NM_003579.4(RAD54L):c.6G>T (p.Arg2Ser)	RAD54L (R2S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2625163	NM_003579.4(RAD54L):c.7A>T (p.Arg3Trp)	RAD54L (R3W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465906	NM_003579.4(RAD54L):c.9G>A (p.Arg3=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1768937	NM_003579.4(RAD54L):c.9G>C (p.Arg3Ser)	RAD54L (R3S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560351	NM_003579.4(RAD54L):c.13T>C (p.Leu5=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1773987	NM_003579.4(RAD54L):c.14T>C (p.Leu5Ser)	RAD54L (L5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595521	NM_003579.4(RAD54L):c.15G>A (p.Leu5=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1789244	NM_003579.4(RAD54L):c.22A>C (p.Ser8Arg)	RAD54L (S8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792205	NM_003579.4(RAD54L):c.24C>G (p.Ser8Arg)	RAD54L (S8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2625165	NM_003579.4(RAD54L):c.26A>G (p.Gln9Arg)	RAD54L (Q9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1796195	NM_003579.4(RAD54L):c.27G>C (p.Gln9His)	RAD54L (Q9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465683	NM_003579.4(RAD54L):c.28C>G (p.Leu10Val)	RAD54L (L10V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2625175	NM_003579.4(RAD54L):c.30G>A (p.Leu10=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2562800	NM_003579.4(RAD54L):c.33C>T (p.Ala11=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1736002	NM_003579.4(RAD54L):c.38G>A (p.Arg13Lys)	RAD54L (R13K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1741811	NM_003579.4(RAD54L):c.45T>C (p.Pro15=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1743925	NM_003579.4(RAD54L):c.48A>G (p.Glu16=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1744667	NM_003579.4(RAD54L):c.49G>A (p.Gly17Ser)	RAD54L (G17S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2447813	NM_003579.4(RAD54L):c.54G>T (p.Arg18Ser)	RAD54L (R18S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1748569	NM_003579.4(RAD54L):c.55T>C (p.Ser19Pro)	RAD54L (S19P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1749149	NM_003579.4(RAD54L):c.56C>G (p.Ser19Cys)	RAD54L (S19C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594357	NM_003579.4(RAD54L):c.57C>T (p.Ser19=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1750967	NM_003579.4(RAD54L):c.59G>C (p.Cys20Ser)	RAD54L (C20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1678875	NM_003579.4(RAD54L):c.62A>G (p.Asp21Gly)	RAD54L (D21G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 2561512	NM_003579.4(RAD54L):c.64G>A (p.Asp22Asn)	RAD54L (D22N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1756542	NM_003579.4(RAD54L):c.69A>G (p.Glu23=)	RAD54L	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1757178	NM_003579.4(RAD54L):c.70G>T (p.Asp24Tyr)	RAD54L (D24Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1758181	NM_003579.4(RAD54L):c.72C>G (p.Asp24Glu)	RAD54L (D24E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1761566	NM_003579.4(RAD54L):c.79C>A (p.Pro27Thr)	RAD54L (P27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1762823	NM_003579.4(RAD54L):c.82G>A (p.Gly28Ser)	RAD54L (G28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1763625	NM_003579.4(RAD54L):c.84C>A (p.Gly28=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2464540	NM_003579.4(RAD54L):c.86T>C (p.Leu29Pro)	RAD54L (L29P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1765046	NM_003579.4(RAD54L):c.88G>A (p.Val30Met)	RAD54L (V30M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1767164	NM_003579.4(RAD54L):c.94C>T (p.Pro32Ser)	RAD54L (P32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2625168	NM_003579.4(RAD54L):c.95C>A (p.Pro32His)	RAD54L (P32H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1678911	NM_003579.4(RAD54L):c.95C>G (p.Pro32Arg)	RAD54L (P32R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1795670	NM_003579.4(RAD54L):c.100A>C (p.Lys34Gln)	RAD54L (K34Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1773670	NM_003579.4(RAD54L):c.103C>T (p.Arg35Trp)	RAD54L (R35W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1776657	NM_003579.4(RAD54L):c.104G>A (p.Arg35Gln)	RAD54L (R35Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1779984	NM_003579.4(RAD54L):c.105G>T (p.Arg35=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1788690	NM_003579.4(RAD54L):c.108A>G (p.Lys36=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2496807	NM_003579.4(RAD54L):c.111C>T (p.Ser37=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1739200	NM_003579.4(RAD54L):c.116G>A (p.Ser39Asn)	RAD54L (S39N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1741926	NM_003579.4(RAD54L):c.117T>C (p.Ser39=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2625151	NM_003579.4(RAD54L):c.118G>A (p.Glu40Lys)	RAD54L (E40K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467439	NM_003579.4(RAD54L):c.122C>T (p.Thr41Ile)	RAD54L (T41I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259026	NM_003579.4(RAD54L):c.134A>G (p.Glu45Gly)	RAD54L (E45G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466270	NM_003579.4(RAD54L):c.136T>G (p.Cys46Gly)	RAD54L (C46G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2447812	NM_003579.4(RAD54L):c.137G>A (p.Cys46Tyr)	RAD54L (C46Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1771522	NM_003579.4(RAD54L):c.138T>C (p.Cys46=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2595785	NM_003579.4(RAD54L):c.144G>A (p.Leu48=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1772914	NM_003579.4(RAD54L):c.144G>T (p.Leu48=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	RAD54L-related condition +1 more	GLikely benign
Select item 1678933	NM_003579.4(RAD54L):c.144G>C (p.Leu48=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2562782	NM_003579.4(RAD54L):c.148C>G (p.Pro50Ala)	RAD54L (P50A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572167	NM_003579.4(RAD54L):c.160C>G (p.Pro54Ala)	RAD54L (P54A)	Single nucleotide variant (missense variant +1 more)	Astrocytoma IDH-mutant	GUncertain significance
Select item 1777234	NM_003579.4(RAD54L):c.164T>G (p.Leu55Trp)	RAD54L (L55W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1777642	NM_003579.4(RAD54L):c.166A>G (p.Ser56Gly)	RAD54L (S56G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778120	NM_003579.4(RAD54L):c.168T>G (p.Ser56Arg)	RAD54L (S56R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778514	NM_003579.4(RAD54L):c.170A>G (p.Gln57Arg)	RAD54L (Q57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778712	NM_003579.4(RAD54L):c.171G>A (p.Gln57=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2447784	NM_003579.4(RAD54L):c.177C>G (p.Thr59=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1779947	NM_003579.4(RAD54L):c.177C>T (p.Thr59=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2467624	NM_003579.4(RAD54L):c.180T>C (p.Asn60=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1781296	NM_003579.4(RAD54L):c.184C>A (p.Pro62Thr)	RAD54L (P62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1781635	NM_003579.4(RAD54L):c.186A>G (p.Pro62=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 6191	NM_003579.4(RAD54L):c.188C>A (p.Pro63His)	RAD54L (P63H)	Single nucleotide variant (missense variant +1 more)	Colon adenocarcinoma	GPathogenic
Select item 1783028	NM_003579.4(RAD54L):c.193C>T (p.Leu65=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1783203	NM_003579.4(RAD54L):c.194T>C (p.Leu65Pro)	RAD54L (L65P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783587	NM_003579.4(RAD54L):c.196G>A (p.Asp66Asn)	RAD54L (D66N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783932	NM_003579.4(RAD54L):c.198C>T (p.Asp66=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1784121	NM_003579.4(RAD54L):c.199A>G (p.Ser67Gly)	RAD54L (S67G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1786226	NM_003579.4(RAD54L):c.211G>A (p.Glu71Lys)	RAD54L (E71K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431693	NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro)	RAD54L (A72P)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 1787046	NM_003579.4(RAD54L):c.216A>G (p.Ala72=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1787045	NM_003579.4(RAD54L):c.216A>C (p.Ala72=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1787569	NM_003579.4(RAD54L):c.219T>C (p.Phe73=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1788243	NM_003579.4(RAD54L):c.223C>G (p.Arg75Gly)	RAD54L (R75G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466171	NM_003579.4(RAD54L):c.224G>A (p.Arg75Gln)	RAD54L (R75Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1788406	NM_003579.4(RAD54L):c.224G>T (p.Arg75Leu)	RAD54L (R75L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619960	NM_003579.4(RAD54L):c.227G>A (p.Ser76Asn)	RAD54L (S76N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1788919	NM_003579.4(RAD54L):c.227G>C (p.Ser76Thr)	RAD54L (S76T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1789983	NM_003579.4(RAD54L):c.234G>A (p.Leu78=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1790146	NM_003579.4(RAD54L):c.235T>G (p.Ser79Ala)	RAD54L (S79A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594007	NM_003579.4(RAD54L):c.237A>G (p.Ser79=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2447783	NM_003579.4(RAD54L):c.246C>G (p.Phe82Leu)	RAD54L (F82L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2447796	NM_003579.4(RAD54L):c.247A>G (p.Lys83Glu)	RAD54L (K83E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792373	NM_003579.4(RAD54L):c.250G>A (p.Val84Ile)	RAD54L (V84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2625146	NM_003579.4(RAD54L):c.251T>G (p.Val84Gly)	RAD54L (V84G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792523	NM_003579.4(RAD54L):c.251T>C (p.Val84Ala)	RAD54L (V84A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792796	NM_003579.4(RAD54L):c.253C>G (p.Pro85Ala)	RAD54L (P85A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594180	NM_003579.4(RAD54L):c.254C>T (p.Pro85Leu)	RAD54L (P85L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792927	NM_003579.4(RAD54L):c.254C>G (p.Pro85Arg)	RAD54L (P85R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1793366	NM_003579.4(RAD54L):c.257T>G (p.Ile86Ser)	RAD54L (I86S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1793909	NM_003579.4(RAD54L):c.261A>T (p.Pro87=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2496813	NM_003579.4(RAD54L):c.265T>C (p.Tyr89His)	RAD54L (Y89H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1794677	NM_003579.4(RAD54L):c.267T>C (p.Tyr89=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1678971	NM_003579.4(RAD54L):c.272-21G>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign

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