"Ambry Genetics"[submitter] AND "RPS6KA1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156195	NM_002953.4(RPS6KA1):c.101C>T (p.Pro34Leu)	RPS6KA1 (P34L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156196	NM_002953.4(RPS6KA1):c.102G>A (p.Pro34=)	RPS6KA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3156200	NM_002953.4(RPS6KA1):c.109-936C>T	RPS6KA1 (R11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156197	NM_002953.4(RPS6KA1):c.109-839G>A	RPS6KA1 (R43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2339734	NM_002953.4(RPS6KA1):c.319G>A (p.Val107Ile)	RPS6KA1 (V116I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543048	NM_002953.4(RPS6KA1):c.434G>A (p.Arg145His)	RPS6KA1 (R129H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459059	NM_002953.4(RPS6KA1):c.454C>T (p.Arg152Trp)	RPS6KA1 (R136W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454522	NM_002953.4(RPS6KA1):c.469G>A (p.Val157Met)	RPS6KA1 (V141M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333245	NM_002953.4(RPS6KA1):c.650A>G (p.Lys217Arg)	RPS6KA1 (K226R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301171	NM_002953.4(RPS6KA1):c.700G>A (p.Val234Ile)	RPS6KA1 (V218I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156201	NM_002953.4(RPS6KA1):c.713G>A (p.Gly238Asp)	RPS6KA1 (G222D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156202	NM_002953.4(RPS6KA1):c.724A>T (p.Ser242Cys)	RPS6KA1 (S251C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615911	NM_002953.4(RPS6KA1):c.759T>G (p.Phe253Leu)	RPS6KA1 (F253L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519687	NM_002953.4(RPS6KA1):c.1144G>A (p.Val382Met)	RPS6KA1 (V366M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482574	NM_002953.4(RPS6KA1):c.1171G>A (p.Gly391Ser)	RPS6KA1 (G391S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362321	NM_002953.4(RPS6KA1):c.1187C>T (p.Pro396Leu)	RPS6KA1 (P396L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463742	NM_002953.4(RPS6KA1):c.1249G>A (p.Gly417Ser)	RPS6KA1 (G401S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318302	NM_002953.4(RPS6KA1):c.1276G>T (p.Val426Leu)	RPS6KA1 (V410L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593799	NM_002953.4(RPS6KA1):c.1459C>A (p.Leu487Met)	RPS6KA1 (L496M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244711	NM_002953.4(RPS6KA1):c.1507C>T (p.Arg503Trp)	RPS6KA1 (R503W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389502	NM_002953.4(RPS6KA1):c.1529G>A (p.Arg510Gln)	RPS6KA1 (R494Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156198	NM_002953.4(RPS6KA1):c.1646A>T (p.Asn549Ile)	RPS6KA1 (N558I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262762	NM_002953.4(RPS6KA1):c.1817C>T (p.Thr606Ile)	RPS6KA1 (T615I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542904	NM_002953.4(RPS6KA1):c.1859A>G (p.Asp620Gly)	RPS6KA1 (D629G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609213	NM_002953.4(RPS6KA1):c.1972G>A (p.Val658Met)	RPS6KA1 (V642M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156199	NM_002953.4(RPS6KA1):c.2075A>T (p.Gln692Leu)	RPS6KA1 (Q676L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557735	NM_002953.4(RPS6KA1):c.2092A>G (p.Met698Val)	RPS6KA1 (M707V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611895	NM_002953.4(RPS6KA1):c.2111C>T (p.Ala704Val)	RPS6KA1 (A688V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303756	NM_002953.4(RPS6KA1):c.2167G>T (p.Ala723Ser)	RPS6KA1 (A723S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29