6195[Gene ID] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
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 3315303	NM_002953.4(RPS6KA1):c.109-833C>T	RPS6KA1 (S45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3315308	NM_002953.4(RPS6KA1):c.323G>A (p.Arg108Gln)	RPS6KA1 (R117Q +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 3315310	NM_002953.4(RPS6KA1):c.455G>A (p.Arg152Gln)	RPS6KA1 (R152Q +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 3315309	NM_002953.4(RPS6KA1):c.968C>A (p.Thr323Asn)	RPS6KA1 (T323N +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 3315305	NM_002953.4(RPS6KA1):c.1651G>A (p.Glu551Lys)	RPS6KA1 (E551K +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 3315304	NM_002953.4(RPS6KA1):c.1830A>C (p.Gly610=)	RPS6KA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 980387	GRCh37/hg19 1p36.11(chr1:26805682-26884229)x1	RPS6KA1	Copy number loss	not provided	GUncertain significance
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 44