ClinVar for Gene (Select 6041) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314650	NM_021133.4(RNASEL):c.22A>C (p.Asn8His)	RNASEL (N8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314649	NM_021133.4(RNASEL):c.818G>T (p.Gly273Val)	RNASEL (G273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314648	NM_021133.4(RNASEL):c.233T>C (p.Leu78Pro)	RNASEL (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3154882	NM_021133.4(RNASEL):c.965C>G (p.Ser322Cys)	RNASEL (S322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154881	NM_021133.4(RNASEL):c.938A>T (p.Asp313Val)	RNASEL (D313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154880	NM_021133.4(RNASEL):c.704G>T (p.Arg235Met)	RNASEL (R235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154878	NM_021133.4(RNASEL):c.52G>A (p.Gly18Ser)	RNASEL (G18S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154877	NM_021133.4(RNASEL):c.443G>C (p.Gly148Ala)	RNASEL (G148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154876	NM_021133.4(RNASEL):c.2000G>A (p.Arg667Gln)	RNASEL (R667Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154875	NM_021133.4(RNASEL):c.1951A>G (p.Arg651Gly)	RNASEL (R651G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154873	NM_021133.4(RNASEL):c.1883G>A (p.Ser628Asn)	RNASEL (S628N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154872	NM_021133.4(RNASEL):c.1809C>T (p.Ser603=)	RNASEL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3154871	NM_021133.4(RNASEL):c.1220G>A (p.Cys407Tyr)	RNASEL (C407Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068055	NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del)	RNASEL (E376del)	Deletion (inframe_deletion)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3057296	NM_021133.4(RNASEL):c.195C>A (p.Asn65Lys)	RNASEL (N65K)	Single nucleotide variant (missense variant)	RNASEL-related disorder	GLikely benign
Select item 3055991	NM_021133.4(RNASEL):c.2172G>A (p.Lys724=)	RNASEL	Single nucleotide variant (synonymous variant)	RNASEL-related disorder	GBenign
Select item 3050448	NM_021133.4(RNASEL):c.880A>G (p.Lys294Glu)	RNASEL (K294E)	Single nucleotide variant (missense variant)	RNASEL-related disorder	GLikely benign
Select item 3048102	NM_021133.4(RNASEL):c.270G>A (p.Lys90=)	RNASEL	Single nucleotide variant (synonymous variant)	RNASEL-related disorder	GLikely benign
Select item 3039749	NM_021133.4(RNASEL):c.1234C>G (p.Arg412Gly)	RNASEL (R412G)	Single nucleotide variant (missense variant)	RNASEL-related disorder	GLikely benign
Select item 3035608	NM_021133.4(RNASEL):c.666G>A (p.Thr222=)	RNASEL	Single nucleotide variant (synonymous variant)	RNASEL-related disorder	GBenign
Select item 3024086	NM_021133.4(RNASEL):c.2039+1del	RNASEL	Deletion (splice donor variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2620301	NM_021133.4(RNASEL):c.1696C>T (p.Leu566Phe)	RNASEL (L566F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573176	NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)	RNASEL (V531M)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2552536	NM_021133.4(RNASEL):c.1164A>C (p.Glu388Asp)	RNASEL (E388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527371	NM_021133.4(RNASEL):c.2188G>A (p.Ala730Thr)	RNASEL (A730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523909	NM_021133.4(RNASEL):c.1810G>A (p.Asp604Asn)	RNASEL (D604N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494219	NM_021133.4(RNASEL):c.635G>A (p.Ser212Asn)	RNASEL (S212N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472167	NM_021133.4(RNASEL):c.145G>A (p.Ala49Thr)	RNASEL (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459893	NM_021133.4(RNASEL):c.2194G>A (p.Gly732Arg)	RNASEL (G732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456553	NM_021133.4(RNASEL):c.976A>G (p.Lys326Glu)	RNASEL (K326E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445376	NM_021133.4(RNASEL):c.1469A>G (p.Asn490Ser)	RNASEL (N490S)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445339	NM_021133.4(RNASEL):c.1115C>A (p.Ala372Asp)	RNASEL (A372D)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445292	NM_021133.4(RNASEL):c.2152C>A (p.Gln718Lys)	RNASEL (Q718K)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445288	NM_021133.4(RNASEL):c.1251G>C (p.Leu417Phe)	RNASEL (L417F)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445245	NM_021133.4(RNASEL):c.918G>A (p.Met306Ile)	RNASEL (M306I)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2435442	NM_021133.4(RNASEL):c.1481-1G>T	RNASEL	Single nucleotide variant (splice acceptor variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2435441	NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)	RNASEL (A176T)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2392015	NM_021133.4(RNASEL):c.605G>A (p.Gly202Asp)	RNASEL (G202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385265	NM_021133.4(RNASEL):c.254C>T (p.Pro85Leu)	RNASEL (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334328	NM_021133.4(RNASEL):c.1477A>G (p.Ile493Val)	RNASEL (I493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300363	NM_021133.4(RNASEL):c.1376A>T (p.Glu459Val)	RNASEL (E459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227487	NM_021133.4(RNASEL):c.562C>T (p.Leu188Phe)	RNASEL (L188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220846	NM_021133.4(RNASEL):c.1823G>A (p.Arg608Gln)	RNASEL (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809410	GRCh37/hg19 1q25.3(chr1:182442865-182609349)x1	RGS16, RGSL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1807935	GRCh37/hg19 1q25.3(chr1:182443031-182609230)x1	RGS16, RGSL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1804134	NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)	RNASEL (A345fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702932	NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro)	RNASEL (T435P)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702931	NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser)	RNASEL (L430S)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702930	NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln)	RNASEL (E424Q)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702929	NM_021133.4(RNASEL):c.1416T>C (p.Val472=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702928	NM_021133.4(RNASEL):c.1305C>T (p.Thr435=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702927	NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702926	NM_021133.4(RNASEL):c.1260C>T (p.Phe420=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702925	NM_021133.4(RNASEL):c.1257A>T (p.Thr419=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702924	NM_021133.4(RNASEL):c.1239G>A (p.Glu413=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702923	NM_021133.4(RNASEL):c.1222C>T (p.Leu408=)	RNASEL	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702922	NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter)	RNASEL (L430*)	Single nucleotide variant (nonsense)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702921	NM_021133.4(RNASEL):c.1430del (p.Leu477fs)	RNASEL (L477fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702920	NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp)	RNASEL (G422W)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702919	NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs)	RNASEL (V472fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702918	NM_021133.4(RNASEL):c.1413del (p.Val472fs)	RNASEL (V472fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702917	NM_021133.4(RNASEL):c.1411del (p.Ala471fs)	RNASEL (A471fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702916	NM_021133.4(RNASEL):c.1407del (p.Phe469fs)	RNASEL (F469fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702915	NM_021133.4(RNASEL):c.1403del (p.Ile468fs)	RNASEL (I468fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702914	NM_021133.4(RNASEL):c.1400dup (p.Ile468fs)	RNASEL (I468fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702913	NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs)	RNASEL (S467fs)	Insertion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702912	NM_021133.4(RNASEL):c.1395del (p.Ser466fs)	RNASEL (S466fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702911	NM_021133.4(RNASEL):c.1385del (p.Arg462fs)	RNASEL (R462fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702910	NM_021133.4(RNASEL):c.1380del (p.Phe460fs)	RNASEL (F460fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702909	NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys)	RNASEL (T419K)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702908	NM_021133.4(RNASEL):c.1369del (p.Glu457fs)	RNASEL (E457fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702907	NM_021133.4(RNASEL):c.1364dup (p.Asn455fs)	RNASEL (N455fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702906	NM_021133.4(RNASEL):c.1360del (p.Glu454fs)	RNASEL (E454fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702905	NM_021133.4(RNASEL):c.1358del (p.Val453fs)	RNASEL (V453fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702904	NM_021133.4(RNASEL):c.1351del (p.Glu451fs)	RNASEL (E451fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702903	NM_021133.4(RNASEL):c.1343dup (p.His448fs)	RNASEL (H448fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702902	NM_021133.4(RNASEL):c.1322del (p.Leu441fs)	RNASEL (L441fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702901	NM_021133.4(RNASEL):c.1311del (p.Cys437fs)	RNASEL (C437fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702900	NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter)	RNASEL (E438*)	Duplication (nonsense)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702899	NM_021133.4(RNASEL):c.1300del (p.Val434fs)	RNASEL (V434fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702898	NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)	RNASEL (S415G)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702897	NM_021133.4(RNASEL):c.1293dup (p.Val432fs)	RNASEL (V432fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702896	NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs)	RNASEL (L430fs)	Insertion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702895	NM_021133.4(RNASEL):c.1286del (p.His429fs)	RNASEL (H429fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702894	NM_021133.4(RNASEL):c.1285dup (p.His429fs)	RNASEL (H429fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702893	NM_021133.4(RNASEL):c.1279del (p.Arg427fs)	RNASEL (R427fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702892	NM_021133.4(RNASEL):c.1273dup (p.Ser425fs)	RNASEL (S425fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702891	NM_021133.4(RNASEL):c.1268del (p.Ser423fs)	RNASEL (S423fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702890	NM_021133.4(RNASEL):c.1266dup (p.Ser423fs)	RNASEL (S423fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702889	NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs)	RNASEL (Y421fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702888	NM_021133.4(RNASEL):c.1257del (p.Phe420fs)	RNASEL (F420fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702887	NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys)	RNASEL (E413K)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702886	NM_021133.4(RNASEL):c.1256del (p.Thr419fs)	RNASEL (T419fs)	Deletion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702885	NM_021133.4(RNASEL):c.1253dup (p.Thr419fs)	RNASEL (T419fs)	Duplication (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1702884	NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs)	RNASEL (V418fs)	Insertion (frameshift variant)	Prostate cancer, hereditary, 1	GUncertain significance

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