RPS6KL1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 3156278	NM_031464.5(RPS6KL1):c.1642G>C (p.Val548Leu)	RPS6KL1 (V316L +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3156277	NM_031464.5(RPS6KL1):c.1575G>A (p.Met525Ile)	RPS6KL1 (M293I +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2359724	NM_031464.5(RPS6KL1):c.1573A>G (p.Met525Val)	RPS6KL1 (M291V +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3315345	NM_031464.5(RPS6KL1):c.1529T>C (p.Leu510Pro)	RPS6KL1 (L510P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156276	NM_031464.5(RPS6KL1):c.1514G>A (p.Arg505His)	RPS6KL1 (R273H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534142	NM_031464.5(RPS6KL1):c.1513C>T (p.Arg505Cys)	RPS6KL1 (R273C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156275	NM_031464.5(RPS6KL1):c.1501G>A (p.Glu501Lys)	RPS6KL1 (E486K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315346	NM_031464.5(RPS6KL1):c.1481A>G (p.His494Arg)	RPS6KL1 (H479R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317989	NM_031464.5(RPS6KL1):c.1445C>A (p.Ala482Glu)	RPS6KL1 (A482E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317988	NM_031464.5(RPS6KL1):c.1444G>T (p.Ala482Ser)	RPS6KL1 (A467S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156274	NM_031464.5(RPS6KL1):c.1385C>T (p.Thr462Met)	RPS6KL1 (T199M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255302	NM_031464.5(RPS6KL1):c.1346T>C (p.Leu449Pro)	RPS6KL1 (L247P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514844	NM_031464.5(RPS6KL1):c.1246G>A (p.Gly416Arg)	RPS6KL1 (G416R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3156273	NM_031464.5(RPS6KL1):c.1237C>G (p.Leu413Val)	RPS6KL1 (L398V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156272	NM_031464.5(RPS6KL1):c.1231C>T (p.Arg411Trp)	RPS6KL1 (R396W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384674	NM_031464.5(RPS6KL1):c.1187T>C (p.Met396Thr)	RPS6KL1 (M396T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2469422	NM_031464.5(RPS6KL1):c.1159G>A (p.Glu387Lys)	RPS6KL1 (E387K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301634	NM_031464.5(RPS6KL1):c.1072G>C (p.Gly358Arg)	RPS6KL1 (G343R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333376	NM_031464.5(RPS6KL1):c.1070G>A (p.Gly357Glu)	RPS6KL1 (G357E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315344	NM_031464.5(RPS6KL1):c.1057G>A (p.Gly353Ser)	RPS6KL1 (G338S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394012	NM_031464.5(RPS6KL1):c.1028G>A (p.Arg343Gln)	RPS6KL1 (R343Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2319878	NM_031464.5(RPS6KL1):c.956C>T (p.Pro319Leu)	RPS6KL1 (P304L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315343	NM_031464.5(RPS6KL1):c.947C>T (p.Ser316Leu)	RPS6KL1 (S301L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3156289	NM_031464.5(RPS6KL1):c.938C>G (p.Ser313Cys)	RPS6KL1 (S298C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297624	NM_031464.5(RPS6KL1):c.922G>A (p.Ala308Thr)	RPS6KL1 (A308T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490417	NM_031464.5(RPS6KL1):c.919A>G (p.Thr307Ala)	RPS6KL1 (T307A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156288	NM_031464.5(RPS6KL1):c.796C>T (p.Pro266Ser)	RPS6KL1 (P266S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606678	NM_031464.5(RPS6KL1):c.766C>T (p.His256Tyr)	RPS6KL1 (H241Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156287	NM_031464.5(RPS6KL1):c.764C>T (p.Pro255Leu)	RPS6KL1 (P255L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353892	NM_031464.5(RPS6KL1):c.762C>A (p.Asn254Lys)	RPS6KL1 (N239K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156286	NM_031464.5(RPS6KL1):c.631G>C (p.Asp211His)	RPS6KL1 (D180H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297956	NM_031464.5(RPS6KL1):c.595T>A (p.Tyr199Asn)	RPS6KL1 (Y168N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315341	NM_031464.5(RPS6KL1):c.577A>C (p.Ile193Leu)	RPS6KL1 (I162L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315342	NM_031464.5(RPS6KL1):c.566G>A (p.Arg189Gln)	RPS6KL1 (R158Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156285	NM_031464.5(RPS6KL1):c.484G>A (p.Val162Met)	RPS6KL1 (V147M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156284	NM_031464.5(RPS6KL1):c.448C>A (p.Leu150Met)	RPS6KL1 (L150M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537872	NM_031464.5(RPS6KL1):c.286C>T (p.Arg96Cys)	RPS6KL1 (R96C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156281	NM_031464.5(RPS6KL1):c.279G>T (p.Lys93Asn)	RPS6KL1 (K93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263842	NM_031464.5(RPS6KL1):c.275A>G (p.Asn92Ser)	RPS6KL1 (N92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156280	NM_031464.5(RPS6KL1):c.244G>A (p.Val82Met)	RPS6KL1 (V82M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468176	NM_031464.5(RPS6KL1):c.238G>A (p.Val80Met)	RPS6KL1 (V80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315348	NM_031464.5(RPS6KL1):c.212C>A (p.Ala71Glu)	RPS6KL1 (A71E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276068	NM_031464.5(RPS6KL1):c.211G>T (p.Ala71Ser)	RPS6KL1 (A71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398374	NM_031464.5(RPS6KL1):c.192T>A (p.Asp64Glu)	RPS6KL1 (D64E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613487	NM_031464.5(RPS6KL1):c.173G>T (p.Arg58Leu)	RPS6KL1 (R58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315347	NM_031464.5(RPS6KL1):c.158C>T (p.Ala53Val)	RPS6KL1 (A53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335126	NM_031464.5(RPS6KL1):c.64G>A (p.Ala22Thr)	RPS6KL1 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156283	NM_031464.5(RPS6KL1):c.40C>G (p.Leu14Val)	RPS6KL1 (L14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156282	NM_031464.5(RPS6KL1):c.37G>A (p.Gly13Ser)	RPS6KL1 (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315349	NM_031464.5(RPS6KL1):c.4A>T (p.Ser2Cys)	RPS6KL1 (S2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1808281	GRCh37/hg19 14q24.3(chr14:75353951-75424406)x1	DLST, PGF +1 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815672	GRCh37/hg19 14q24.3(chr14:75205276-75507538)x3	MLH3, YLPM1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 67