Related gene-specific medical variations for Gene (Select 6197) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069161	NM_004586.3(RPS6KA3):c.244-1G>A	RPS6KA3	Single nucleotide variant (splice acceptor variant)	Coffin-Lowry syndrome	GPathogenic
Select item 3046137	NM_004586.3(RPS6KA3):c.50G>A (p.Ser17Asn)	LOC130068032, RPS6KA3 (S17N)	Single nucleotide variant (missense variant)	RPS6KA3-related condition	GUncertain significance
Select item 2662267	NM_004586.3(RPS6KA3):c.56C>G (p.Ser19Cys)	LOC130068032, RPS6KA3 (S19C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660142	NM_004586.3(RPS6KA3):c.57C>G (p.Ser19=)	LOC130068032, RPS6KA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621617	NM_004586.3(RPS6KA3):c.7C>G (p.Leu3Val)	LOC130068032, RPS6KA3 (L3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435483	NM_004586.3(RPS6KA3):c.928A>G (p.Arg310Gly)	RPS6KA3 (R310G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053657	NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)	LOC130068032, RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1712597	NM_004586.3(RPS6KA3):c.4C>A (p.Pro2Thr)	LOC130068032, RPS6KA3 (P2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701770	NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala)	RPS6KA3 (P40A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 1579041	NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro)	LOC130068032, RPS6KA3 (L6P)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1526769	GRCh37/hg19 Xp22.12(chrX:20173856-20340117)	RPS6KA3	Copy number gain	not specified	GUncertain significance
Select item 1381727	NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly)	LOC130068032, RPS6KA3 (A7G)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1340576	GRCh37/hg19 Xp22.12(chrX:20185706-20332799)x2	RPS6KA3	Copy number gain	not provided	GUncertain significance
Select item 1323537	NM_004586.3(RPS6KA3):c.1155_1156del (p.Phe385fs)	RPS6KA3 (F385fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1319099	NM_004586.3(RPS6KA3):c.2042A>G (p.His681Arg)	RPS6KA3 (H681R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223231	NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)	LOC130068032, RPS6KA3 (E16D)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1188290	NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile)	LOC130068032, RPS6KA3 (S21I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +3 more	GUncertain significance
Select item 1013356	NM_004586.3(RPS6KA3):c.1826A>T (p.Tyr609Phe)	RPS6KA3 (Y609F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975768	NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)	RPS6KA3 (D503H)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome	GLikely pathogenic
Select item 932031	NM_004586.3(RPS6KA3):c.1227+9A>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19	GUncertain significance
Select item 930812	NM_004586.3(RPS6KA3):c.326-16dup	RPS6KA3	Duplication (intron variant)	Intellectual disability, X-linked 19	GUncertain significance
Select item 564797	GRCh37/hg19 Xp22.12(chrX:20195835-20727041)x2	RPS6KA3	Copy number gain	not provided	GLikely pathogenic
Select item 488448	NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)	RPS6KA3 (R110fs)	Deletion (frameshift variant)	Coffin-Lowry syndrome	GPathogenic
Select item 438301	NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)	RPS6KA3 (E588Q)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome	GLikely pathogenic
Select item 374445	NM_004586.3(RPS6KA3):c.122A>G (p.Gln41Arg)	RPS6KA3 (Q41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 268067	GRCh37/hg19 Xp22.12(chrX:20179739-20938979)x1	RPS6KA3	Copy number loss	See cases	GPathogenic
Select item 155652	GRCh38/hg38 Xp22.12(chrX:20154969-20217590)x0	RPS6KA3	Copy number loss	See cases	GPathogenic
Select item 11668	NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)	RPS6KA3	Duplication	Coffin-Lowry syndrome	GPathogenic
Select item 11665	NG_007488.1:g.67535_67536ins[N[2800];67522_67535]	RPS6KA3	Insertion	Coffin-Lowry syndrome	GPathogenic
Select item 11650	RPS6KA3, 187-BP DEL, NT406	RPS6KA3	Deletion	Coffin-Lowry syndrome	GPathogenic

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Links from Gene

Items: 30