RPS6KC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 560151	NC_000001.11:g.212950566_213249878del	ANGEL2, LOC112577542 +12 more	Deletion	not provided	GUncertain significance
Select item 1941338	NM_012424.6(RPS6KC1):c.20G>T (p.Arg7Leu)	LOC129932493, RPS6KC1 (R7L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1578508	NM_012424.6(RPS6KC1):c.33G>A (p.Leu11=)	LOC129932493, RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1547956	NM_012424.6(RPS6KC1):c.42C>T (p.Phe14=)	LOC129932493, RPS6KC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2972006	NM_012424.6(RPS6KC1):c.55G>A (p.Glu19Lys)	LOC129932493, RPS6KC1 (E19K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2265450	NM_012424.6(RPS6KC1):c.58C>A (p.Pro20Thr)	LOC129932493, RPS6KC1 (P20T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2184907	NM_012424.6(RPS6KC1):c.67C>T (p.His23Tyr)	RPS6KC1 (H23Y)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2459595	NM_012424.6(RPS6KC1):c.71C>T (p.Pro24Leu)	RPS6KC1 (P24L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3156270	NM_012424.6(RPS6KC1):c.76G>C (p.Gly26Arg)	RPS6KC1 (G26R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2804537	NM_012424.6(RPS6KC1):c.87del (p.Tyr30fs)	RPS6KC1 (Y30fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2175137	NM_012424.6(RPS6KC1):c.87A>G (p.Val29=)	RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2726512	NM_012424.6(RPS6KC1):c.105+8C>T	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960074	NM_012424.6(RPS6KC1):c.105+8C>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791830	NM_012424.6(RPS6KC1):c.105+9C>T	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1623900	NM_012424.6(RPS6KC1):c.106-18A>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1618446	NM_012424.6(RPS6KC1):c.106-18A>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2075090	NM_012424.6(RPS6KC1):c.106-3T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2115323	NM_012424.6(RPS6KC1):c.121A>G (p.Asn41Asp)	RPS6KC1 (N41D)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1159111	NM_012424.6(RPS6KC1):c.124C>A (p.Pro42Thr)	RPS6KC1 (P42T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2984016	NM_012424.6(RPS6KC1):c.137A>G (p.Gln46Arg)	RPS6KC1 (Q46R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1633506	NM_012424.6(RPS6KC1):c.141+11T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961468	NM_012424.6(RPS6KC1):c.141+25_141+29del	RPS6KC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1446317	NM_012424.6(RPS6KC1):c.142-6C>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030214	NM_012424.6(RPS6KC1):c.144A>C (p.Ile48=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2111534	NM_012424.6(RPS6KC1):c.164G>A (p.Ser55Asn)	RPS6KC1 (S43N +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2803120	NM_012424.6(RPS6KC1):c.190C>T (p.Leu64=)	RPS6KC1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2015598	NM_012424.6(RPS6KC1):c.204C>T (p.His68=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2958551	NM_012424.6(RPS6KC1):c.214T>C (p.Phe72Leu)	RPS6KC1 (F72L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2183210	NM_012424.6(RPS6KC1):c.262+6T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1905468	NM_012424.6(RPS6KC1):c.263-2A>G	RPS6KC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2414733	NM_012424.6(RPS6KC1):c.264G>T (p.Gly88=)	RPS6KC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1601633	NM_012424.6(RPS6KC1):c.285C>A (p.Ile95=)	RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2979105	NM_012424.6(RPS6KC1):c.339del (p.Ala114fs)	RPS6KC1 (A102fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1412378	NM_012424.6(RPS6KC1):c.350A>C (p.Asn117Thr)	RPS6KC1 (N105T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1958126	NM_012424.6(RPS6KC1):c.377A>G (p.Lys126Arg)	RPS6KC1 (K126R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1966681	NM_012424.6(RPS6KC1):c.378+7T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415389	NM_012424.6(RPS6KC1):c.378+8A>T	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989896	NM_012424.6(RPS6KC1):c.379-12T>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002833	NM_012424.6(RPS6KC1):c.379-9T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1396068	NM_012424.6(RPS6KC1):c.379_380delinsTT (p.Gly127Phe)	RPS6KC1 (G115F +1 more)	Indel (missense variant +3 more)	not provided	GUncertain significance
Select item 1464035	NM_012424.6(RPS6KC1):c.393T>G (p.Asn131Lys)	RPS6KC1 (N119K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2417986	NM_012424.6(RPS6KC1):c.409A>G (p.Ile137Val)	RPS6KC1 (I125V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2485619	NM_012424.6(RPS6KC1):c.413G>T (p.Gly138Val)	RPS6KC1 (G138V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1480335	NM_012424.6(RPS6KC1):c.413G>A (p.Gly138Asp)	RPS6KC1 (G138D +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2065119	NM_012424.6(RPS6KC1):c.429C>G (p.His143Gln)	RPS6KC1 (H143Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2962048	NM_012424.6(RPS6KC1):c.438C>T (p.Ser146=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3156266	NM_012424.6(RPS6KC1):c.443T>C (p.Ile148Thr)	RPS6KC1 (I136T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2732341	NM_012424.6(RPS6KC1):c.467C>T (p.Thr156Met)	RPS6KC1 (T156M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1603672	NM_012424.6(RPS6KC1):c.472+4_472+6dup	RPS6KC1	Duplication (intron variant)	not provided	GBenign
Select item 1613846	NM_012424.6(RPS6KC1):c.473-4C>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1474073	NM_012424.6(RPS6KC1):c.506C>T (p.Thr169Ile)	RPS6KC1 (T157I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2249762	NM_012424.6(RPS6KC1):c.517G>T (p.Asp173Tyr)	RPS6KC1 (D173Y +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2315141	NM_012424.6(RPS6KC1):c.519T>G (p.Asp173Glu)	RPS6KC1 (D173E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2083089	NM_012424.6(RPS6KC1):c.536A>G (p.Asp179Gly)	RPS6KC1 (D167G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2055532	NM_012424.6(RPS6KC1):c.536A>T (p.Asp179Val)	RPS6KC1 (D167V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1974958	NM_012424.6(RPS6KC1):c.579T>C (p.Phe193=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1489967	NM_012424.6(RPS6KC1):c.583C>T (p.Leu195Phe)	RPS6KC1 (L14F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2281993	NM_012424.6(RPS6KC1):c.587A>G (p.Asn196Ser)	RPS6KC1 (N196S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 1961081	NM_012424.6(RPS6KC1):c.596C>T (p.Ser199Leu)	RPS6KC1 (S18L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1636993	NM_012424.6(RPS6KC1):c.610C>G (p.Leu204Val)	RPS6KC1 (L192V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1601118	NM_012424.6(RPS6KC1):c.622G>T (p.Ala208Ser)	RPS6KC1 (A196S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1942049	NM_012424.6(RPS6KC1):c.626C>T (p.Ser209Phe)	RPS6KC1 (S197F +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2052949	NM_012424.6(RPS6KC1):c.656A>T (p.Glu219Val)	RPS6KC1 (E219V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 3156269	NM_012424.6(RPS6KC1):c.658C>T (p.Arg220Trp)	RPS6KC1 (R208W +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1492911	NM_012424.6(RPS6KC1):c.667C>T (p.Arg223Cys)	RPS6KC1 (R211C +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2184847	NM_012424.6(RPS6KC1):c.679C>T (p.Pro227Ser)	RPS6KC1 (P215S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1479309	NM_012424.6(RPS6KC1):c.680del (p.Pro227fs)	RPS6KC1 (P227fs +2 more)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
Select item 1446435	NM_012424.6(RPS6KC1):c.695C>T (p.Pro232Leu)	RPS6KC1 (P220L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2246506	NM_012424.6(RPS6KC1):c.701T>G (p.Leu234Arg)	RPS6KC1 (L234R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1403430	NM_012424.6(RPS6KC1):c.738A>C (p.Leu246Phe)	RPS6KC1 (L246F +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2174805	NM_012424.6(RPS6KC1):c.768A>G (p.Glu256=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1626969	NM_012424.6(RPS6KC1):c.768A>C (p.Glu256Asp)	RPS6KC1 (E244D +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1639049	NM_012424.6(RPS6KC1):c.771C>T (p.Asp257=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1093705	NM_012424.6(RPS6KC1):c.781G>A (p.Ala261Thr)	RPS6KC1 (A249T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1921196	NM_012424.6(RPS6KC1):c.807A>C (p.Gly269=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1609964	NM_012424.6(RPS6KC1):c.835+18T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974074	NM_012424.6(RPS6KC1):c.836-16A>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606994	NM_012424.6(RPS6KC1):c.836-15G>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899960	NM_012424.6(RPS6KC1):c.836-3dup	RPS6KC1	Duplication (intron variant)	not provided	GBenign
Select item 1592463	NM_012424.6(RPS6KC1):c.836-3del	RPS6KC1	Deletion (intron variant)	not provided	GBenign
Select item 1613778	NM_012424.6(RPS6KC1):c.836-11T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1414811	NM_012424.6(RPS6KC1):c.850A>G (p.Thr284Ala)	RPS6KC1 (T103A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2383680	NM_012424.6(RPS6KC1):c.853C>T (p.Arg285Cys)	RPS6KC1 (R104C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2080311	NM_012424.6(RPS6KC1):c.878C>T (p.Thr293Ile)	RPS6KC1 (T293I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2963162	NM_012424.6(RPS6KC1):c.947C>T (p.Ser316Phe)	RPS6KC1 (S195F +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1672167	NM_012424.6(RPS6KC1):c.948T>C (p.Ser316=)	RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1568207	NM_012424.6(RPS6KC1):c.956C>T (p.Pro319Leu)	RPS6KC1 (P138L +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2129413	NM_012424.6(RPS6KC1):c.957A>C (p.Pro319=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2779350	NM_012424.6(RPS6KC1):c.985A>G (p.Asn329Asp)	RPS6KC1 (N208D +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1979533	NM_012424.6(RPS6KC1):c.990A>G (p.Leu330=)	RPS6KC1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2087797	NM_012424.6(RPS6KC1):c.991A>C (p.Arg331=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3156271	NM_012424.6(RPS6KC1):c.997C>T (p.Pro333Ser)	RPS6KC1 (P212S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2041877	NM_012424.6(RPS6KC1):c.1002C>T (p.Ala334=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign

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