ClinVar for Gene (Select 26750) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315340	NM_012424.6(RPS6KC1):c.2147C>G (p.Thr716Ser)	RPS6KC1 (T251S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315338	NM_012424.6(RPS6KC1):c.941A>G (p.Asp314Gly)	RPS6KC1 (D133G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315337	NM_012424.6(RPS6KC1):c.2856T>G (p.Ser952Arg)	RPS6KC1 (S600R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315336	NM_012424.6(RPS6KC1):c.1526C>G (p.Thr509Ser)	RPS6KC1 (T212S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315335	NM_012424.6(RPS6KC1):c.3085C>G (p.Gln1029Glu)	RPS6KC1 (Q908E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315334	NM_012424.6(RPS6KC1):c.979C>T (p.Leu327Phe)	RPS6KC1 (L206F +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3315333	NM_012424.6(RPS6KC1):c.980T>C (p.Leu327Pro)	RPS6KC1 (L146P +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3247985	NC_000001.10:g.(?_213224747)_(213224871_?)dup	RPS6KC1	Duplication	not provided	GUncertain significance
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 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 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 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 3156265	NM_012424.6(RPS6KC1):c.2858A>G (p.Glu953Gly)	RPS6KC1 (E741G +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156263	NM_012424.6(RPS6KC1):c.2231A>G (p.His744Arg)	RPS6KC1 (H532R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156262	NM_012424.6(RPS6KC1):c.2066C>G (p.Pro689Arg)	RPS6KC1 (P658R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156261	NM_012424.6(RPS6KC1):c.1939A>G (p.Thr647Ala)	RPS6KC1 (T295A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156260	NM_012424.6(RPS6KC1):c.1545A>T (p.Leu515Phe)	RPS6KC1 (L303F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156259	NM_012424.6(RPS6KC1):c.1316C>A (p.Ala439Glu)	RPS6KC1 (A142E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3023733	NM_012424.6(RPS6KC1):c.2711G>A (p.Gly904Asp)	RPS6KC1 (G439D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010768	NM_012424.6(RPS6KC1):c.1738G>T (p.Ala580Ser)	RPS6KC1 (A399S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002833	NM_012424.6(RPS6KC1):c.379-9T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986469	NM_012424.6(RPS6KC1):c.3054A>G (p.Glu1018=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 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 2979105	NM_012424.6(RPS6KC1):c.339del (p.Ala114fs)	RPS6KC1 (A102fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
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 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 2962861	NM_012424.6(RPS6KC1):c.3052G>C (p.Glu1018Gln)	RPS6KC1 (E1018Q +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2961468	NM_012424.6(RPS6KC1):c.141+25_141+29del	RPS6KC1	Microsatellite (intron variant)	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 2904005	NM_012424.6(RPS6KC1):c.2766A>C (p.Arg922Ser)	RPS6KC1 (R922S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902014	NM_012424.6(RPS6KC1):c.3030T>G (p.Thr1010=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901122	NM_012424.6(RPS6KC1):c.3160C>T (p.Pro1054Ser)	RPS6KC1 (P1023S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880114	NM_012424.6(RPS6KC1):c.1532G>A (p.Ser511Asn)	RPS6KC1 (S214N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861362	NM_012424.6(RPS6KC1):c.3090+3A>G	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2837216	NM_012424.6(RPS6KC1):c.1371A>G (p.Glu457=)	RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2825919	NM_012424.6(RPS6KC1):c.2784C>T (p.Arg928=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804537	NM_012424.6(RPS6KC1):c.87del (p.Tyr30fs)	RPS6KC1 (Y30fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2803120	NM_012424.6(RPS6KC1):c.190C>T (p.Leu64=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2801102	NM_012424.6(RPS6KC1):c.2246T>C (p.Ile749Thr)	RPS6KC1 (I284T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2726512	NM_012424.6(RPS6KC1):c.105+8C>T	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716000	NM_012424.6(RPS6KC1):c.1758A>G (p.Thr586=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712210	NM_012424.6(RPS6KC1):c.2301C>T (p.His767=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693742	NM_012424.6(RPS6KC1):c.2703C>G (p.Ile901Met)	RPS6KC1 (I549M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2603717	NM_012424.6(RPS6KC1):c.1807A>G (p.Ile603Val)	RPS6KC1 (I138V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552538	NM_012424.6(RPS6KC1):c.1385A>G (p.Asp462Gly)	RPS6KC1 (D250G +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547691	NM_012424.6(RPS6KC1):c.1349C>T (p.Pro450Leu)	RPS6KC1 (P269L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547391	NM_012424.6(RPS6KC1):c.2339C>G (p.Ala780Gly)	RPS6KC1 (A428G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2480927	NM_012424.6(RPS6KC1):c.2152A>G (p.Ile718Val)	RPS6KC1 (I253V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480736	NM_012424.6(RPS6KC1):c.1083C>G (p.Phe361Leu)	RPS6KC1 (F180L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476482	NM_012424.6(RPS6KC1):c.1805G>A (p.Arg602Lys)	RPS6KC1 (R590K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2425805	NC_000001.10:g.(?_213224747)_(213224871_?)del	RPS6KC1	Deletion	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 2415389	NM_012424.6(RPS6KC1):c.378+8A>T	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414733	NM_012424.6(RPS6KC1):c.264G>T (p.Gly88=)	RPS6KC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2405454	NM_012424.6(RPS6KC1):c.2640G>T (p.Lys880Asn)	RPS6KC1 (K528N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399296	NM_012424.6(RPS6KC1):c.1681C>T (p.Pro561Ser)	RPS6KC1 (P264S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2354906	NM_012424.6(RPS6KC1):c.1331A>G (p.Gln444Arg)	RPS6KC1 (Q147R +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2345641	NM_012424.6(RPS6KC1):c.3046A>G (p.Met1016Val)	RPS6KC1 (M835V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315786	NM_012424.6(RPS6KC1):c.2021A>C (p.Lys674Thr)	RPS6KC1 (K322T +8 more)	Single nucleotide variant (missense variant +1 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 2314372	NM_012424.6(RPS6KC1):c.1601T>C (p.Phe534Ser)	RPS6KC1 (F522S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304929	NM_012424.6(RPS6KC1):c.2477C>T (p.Ser826Leu)	RPS6KC1 (S361L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2276955	NM_012424.6(RPS6KC1):c.1726G>A (p.Asp576Asn)	RPS6KC1 (D111N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 2246504	NM_012424.6(RPS6KC1):c.1814G>A (p.Ser605Asn)	RPS6KC1 (S140N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238389	NM_012424.6(RPS6KC1):c.1022G>A (p.Arg341Lys)	RPS6KC1 (R220K +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2198275	NM_012424.6(RPS6KC1):c.1865A>G (p.Tyr622Cys)	RPS6KC1 (Y157C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196495	NM_012424.6(RPS6KC1):c.2418G>A (p.Glu806=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2195178	NM_012424.6(RPS6KC1):c.1596G>A (p.Glu532=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190643	NM_012424.6(RPS6KC1):c.2692A>G (p.Arg898Gly)	RPS6KC1 (R433G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185165	NM_012424.6(RPS6KC1):c.1824C>T (p.Ser608=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2184847	NM_012424.6(RPS6KC1):c.679C>T (p.Pro227Ser)	RPS6KC1 (P215S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2183452	NM_012424.6(RPS6KC1):c.1785T>C (p.Asn595=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183210	NM_012424.6(RPS6KC1):c.262+6T>C	RPS6KC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2176917	NM_012424.6(RPS6KC1):c.2782C>T (p.Arg928Cys)	RPS6KC1 (R463C +8 more)	Single nucleotide variant (missense variant +1 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 2174805	NM_012424.6(RPS6KC1):c.768A>G (p.Glu256=)	RPS6KC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2168649	NM_012424.6(RPS6KC1):c.2470C>A (p.Pro824Thr)	RPS6KC1 (P527T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167901	NM_012424.6(RPS6KC1):c.1885T>C (p.Leu629=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150318	NM_012424.6(RPS6KC1):c.1725C>T (p.Asn575=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2138512	NM_012424.6(RPS6KC1):c.2156G>A (p.Gly719Glu)	RPS6KC1 (G538E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2131442	NM_012424.6(RPS6KC1):c.1265G>A (p.Arg422Lys)	RPS6KC1 (R391K +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 2109545	NM_012424.6(RPS6KC1):c.1058T>C (p.Met353Thr)	RPS6KC1 (M1T +7 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2106738	NM_012424.6(RPS6KC1):c.1066del (p.Arg356fs)	RPS6KC1 (R325fs +7 more)	Deletion (intron variant +2 more)	not provided	GUncertain significance
Select item 2106332	NM_012424.6(RPS6KC1):c.1505C>G (p.Ser502Ter)	RPS6KC1 (S205* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2100320	NM_012424.6(RPS6KC1):c.3075C>T (p.Arg1025=)	RPS6KC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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