ClinVar for Gene (Select 8986) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641925	NM_003942.3(RPS6KA4):c.2262C>T (p.Ala754=)	RPS6KA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641924	NM_003942.3(RPS6KA4):c.1995C>T (p.Leu665=)	RPS6KA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641923	NM_003942.3(RPS6KA4):c.1305G>A (p.Gln435=)	RPS6KA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569618	NM_003942.3(RPS6KA4):c.737C>T (p.Thr246Met)	RPS6KA4 (T183M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557969	NM_003942.3(RPS6KA4):c.947C>T (p.Ala316Val)	RPS6KA4 (A316V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531242	NM_003942.3(RPS6KA4):c.395A>G (p.Tyr132Cys)	LOC130005939, RPS6KA4 (Y132C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474238	NM_003942.3(RPS6KA4):c.1560G>A (p.Met520Ile)	RPS6KA4 (M457I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469290	NM_003942.3(RPS6KA4):c.1974C>A (p.Asp658Glu)	RPS6KA4 (D651E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455048	NM_003942.3(RPS6KA4):c.823C>T (p.Arg275Trp)	RPS6KA4 (R275W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2405627	NM_003942.3(RPS6KA4):c.254A>C (p.Glu85Ala)	RPS6KA4 (E22A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382974	NM_003942.3(RPS6KA4):c.1906G>T (p.Asp636Tyr)	RPS6KA4 (D573Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371461	NM_003942.3(RPS6KA4):c.2011A>C (p.Ser671Arg)	RPS6KA4 (S608R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362162	NM_003942.3(RPS6KA4):c.976C>G (p.Leu326Val)	RPS6KA4 (L263V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357186	NM_003942.3(RPS6KA4):c.787C>A (p.Pro263Thr)	RPS6KA4 (P200T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353699	NM_003942.3(RPS6KA4):c.2299G>A (p.Gly767Ser)	RPS6KA4 (G760S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320107	NM_003942.3(RPS6KA4):c.1697T>C (p.Met566Thr)	RPS6KA4 (M559T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310657	NM_003942.3(RPS6KA4):c.1237C>T (p.Arg413Trp)	RPS6KA4 (R406W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288237	NM_003942.3(RPS6KA4):c.1621G>A (p.Asp541Asn)	RPS6KA4 (D535N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285408	NM_003942.3(RPS6KA4):c.1505G>A (p.Ser502Asn)	RPS6KA4 (S496N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285088	NM_003942.3(RPS6KA4):c.1217A>G (p.Gln406Arg)	RPS6KA4 (Q343R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276003	NM_003942.3(RPS6KA4):c.2287C>G (p.Arg763Gly)	RPS6KA4 (R763G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275726	NM_003942.3(RPS6KA4):c.747G>C (p.Glu249Asp)	RPS6KA4 (E186D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261284	NM_003942.3(RPS6KA4):c.1441C>G (p.Leu481Val)	RPS6KA4 (L474V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253189	NM_003942.3(RPS6KA4):c.2296A>G (p.Asn766Asp)	RPS6KA4 (N759D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249966	NM_003942.3(RPS6KA4):c.202C>A (p.Arg68Ser)	RPS6KA4 (R5S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249352	NM_003942.3(RPS6KA4):c.787C>T (p.Pro263Ser)	RPS6KA4 (P200S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241875	NM_003942.3(RPS6KA4):c.2207G>T (p.Arg736Leu)	RPS6KA4 (R729L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240260	NM_003942.3(RPS6KA4):c.1459C>T (p.Arg487Trp)	RPS6KA4 (R487W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240126	NM_003942.3(RPS6KA4):c.775C>T (p.Pro259Ser)	RPS6KA4 (P259S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226750	NM_003942.3(RPS6KA4):c.259T>G (p.Ser87Ala)	RPS6KA4 (S24A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208846	NM_003942.3(RPS6KA4):c.806C>T (p.Ala269Val)	RPS6KA4 (A269V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1227675	NM_003942.3(RPS6KA4):c.237A>G (p.Gln79=)	RPS6KA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 787911	NM_003942.3(RPS6KA4):c.860C>T (p.Ala287Val)	RPS6KA4 (A224V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776621	NM_003942.3(RPS6KA4):c.1770C>T (p.Cys590=)	RPS6KA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43