List of variants in gene RPS6KA3 reported as uncertain significance for X-linked disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly)	rs765914103	0.00005
NM_004586.3(RPS6KA3):c.1227+9A>T	rs776061198	0.00003
NM_004586.3(RPS6KA3):c.1960-3C>T	rs1207197365	0.00001
NC_000023.10:g.(?_20173516)_(20195222_?)dup
NC_000023.10:g.(?_20173516)_(20252952_?)dup
NC_000023.11:g.(?_20155378)_(20176518_?)dup
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)	rs2067699414
NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)	rs2067670297
NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala)	rs2148784759
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)	rs2067605278
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
NM_004586.3(RPS6KA3):c.1353+6T>A
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
NM_004586.3(RPS6KA3):c.1409A>G (p.Tyr470Cys)	rs2148653268
NM_004586.3(RPS6KA3):c.1443+6T>C	rs2067519822
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)	rs2148650076
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)	rs2148635858
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu)	rs1555926370
NM_004586.3(RPS6KA3):c.1900G>T (p.Gly634Cys)	rs1555926346
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
NM_004586.3(RPS6KA3):c.2100+10C>T
NM_004586.3(RPS6KA3):c.2100+5G>A
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)
NM_004586.3(RPS6KA3):c.243+6T>G
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)	rs1569232184
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
NM_004586.3(RPS6KA3):c.325+6T>A
NM_004586.3(RPS6KA3):c.326-16dup	rs2068239940
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)	rs1569216043
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)	rs1569215936
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)	rs1555939335
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val)	rs2148686350
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del)	rs1555933769
NM_004586.3(RPS6KA3):c.999+2dup	rs2067702056

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