Related gene-specific medical variations for Gene (Select 10000) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058889	NM_005465.7(AKT3):c.*5453T>G	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	AKT3-related condition	GLikely benign
Select item 2953020	NM_006642.5(SDCCAG8):c.2113-11_2113-8dup	AKT3, SDCCAG8	Duplication (synonymous variant +2 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2932643	NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +2 more	GLikely benign
Select item 2930320	NM_006642.5(SDCCAG8):c.2113-20C>T	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +2 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2640214	NM_005465.7(AKT3):c.*5462G>A	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2635543	NM_006642.5(SDCCAG8):c.2100G>C (p.Arg700=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	SDCCAG8-related condition	GUncertain significance
Select item 2527230	NM_006642.5(SDCCAG8):c.2038C>G (p.Leu680Val)	SDCCAG8, AKT3 (L379V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438959	NM_005465.7(AKT3):c.887G>A (p.Gly296Glu)	AKT3 (G296E)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2200129	NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)	AKT3, SDCCAG8 (T703I +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +2 more	GUncertain significance
Select item 2191503	NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)	AKT3, SDCCAG8 (R401W +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2127337	NM_006642.5(SDCCAG8):c.2112+20G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2107816	NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)	AKT3, SDCCAG8 (A706V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2106170	NM_006642.5(SDCCAG8):c.2113-1G>T	AKT3, SDCCAG8 (N462K)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2103858	NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)	AKT3, SDCCAG8 (S392N +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2086161	NM_006642.5(SDCCAG8):c.2113-5del	AKT3, SDCCAG8 (K465fs)	Deletion (frameshift variant +2 more)	SDCCAG8-related condition +2 more	GBenign/Likely benign
Select item 2082989	NM_006642.5(SDCCAG8):c.2034G>C (p.Val678=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 2042920	NM_006642.5(SDCCAG8):c.2073G>A (p.Arg691=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1997052	NM_006642.5(SDCCAG8):c.2085G>A (p.Ser695=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1987727	NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)	AKT3, SDCCAG8 (E599D +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1987699	NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1967050	NM_006642.5(SDCCAG8):c.2112+2T>C	AKT3, SDCCAG8	Single nucleotide variant (splice donor variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1723386	NM_006642.5(SDCCAG8):c.2071_2072del (p.Arg691fs)	AKT3, SDCCAG8 (R390fs +3 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1696283	NM_006642.5(SDCCAG8):c.2138_*5delinsTCACA (p.Cys713fs)	AKT3, SDCCAG8 (C412fs +3 more)	Indel (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1631636	NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1617336	NM_006642.5(SDCCAG8):c.1986-4C>T	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1590375	NM_006642.5(SDCCAG8):c.2055C>T (p.Asn685=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1575874	NM_006642.5(SDCCAG8):c.2112+8G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1569039	NM_006642.5(SDCCAG8):c.1986-17G>C	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1549752	NM_006642.5(SDCCAG8):c.2085G>T (p.Ser695=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1533567	NM_006642.5(SDCCAG8):c.2098C>A (p.Arg700=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1510905	NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis)	SDCCAG8, AKT3	Duplication (inframe_insertion +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1413304	NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile)	AKT3, SDCCAG8 (M407I +3 more)	Single nucleotide variant (synonymous variant +2 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1400165	NM_006642.5(SDCCAG8):c.1986-3C>T	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1394182	NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln)	AKT3, SDCCAG8 (R734Q +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1379090	NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr)	AKT3, SDCCAG8 (N587Y +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1360829	NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup)	AKT3, SDCCAG8	Duplication (inframe_insertion +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1342647	NM_005465.7(AKT3):c.47-52492A>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1337418	NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 1288833	NM_006642.5(SDCCAG8):c.2113-285T>C	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216643	NM_006642.5(SDCCAG8):c.2113-166A>G	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183513	NM_006642.5(SDCCAG8):c.2113-109dup	AKT3, SDCCAG8	Duplication (intron variant)	not provided	GBenign
Select item 1154854	NM_006642.5(SDCCAG8):c.2013G>A (p.Gln671=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1141592	NM_006642.5(SDCCAG8):c.2112+17G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1125528	NM_006642.5(SDCCAG8):c.1986-6C>T	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1084994	NM_006642.5(SDCCAG8):c.2061T>C (p.Leu687=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1067297	NC_000001.10:g.(?_243652316)_(243652442_?)dup	AKT3, SDCCAG8	Duplication	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 1056755	NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)	AKT3, SDCCAG8 (R399W +3 more)	Single nucleotide variant (missense variant +1 more)	SDCCAG8-related condition +2 more	GUncertain significance
Select item 1015409	NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu)	AKT3, SDCCAG8 (Q375E +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 995385	NM_005465.7(AKT3):c.963T>G (p.Asn321Lys)	AKT3 (N321K)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 974720	NC_000001.11:g.243800225_243853502del	AKT3	Deletion	Megacolon	GLikely pathogenic
Select item 931499	NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)	AKT3 (Y414C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 853144	NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val)	AKT3, SDCCAG8 (M610V +4 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 755252	NM_006642.5(SDCCAG8):c.2040C>T (p.Leu680=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726634	NM_006642.5(SDCCAG8):c.2031G>A (p.Leu677=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 474959	NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 443324	GRCh37/hg19 1q44(chr1:243706704-243827143)x1	AKT3	Copy number loss	See cases	GUncertain significance
Select item 442769	GRCh37/hg19 1q44(chr1:243746779-243904486)x1	AKT3	Copy number loss	See cases	GLikely benign
Select item 441994	GRCh37/hg19 1q43-44(chr1:243681404-244004149)x1	AKT3	Copy number loss	See cases	GUncertain significance
Select item 441680	GRCh37/hg19 1q44(chr1:243766497-243882990)x1	AKT3	Copy number loss	See cases	GUncertain significance
Select item 381812	NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +2 more	GLikely benign
Select item 296922	NM_005465.7(AKT3):c.5155_5159dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296921	NM_006642.5(SDCCAG8):c.*287A>G	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia +1 more	GUncertain significance
Select item 296920	NM_006642.5(SDCCAG8):c.214_217dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 296919	NM_006642.5(SDCCAG8):c.*149T>C	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296918	NM_006642.5(SDCCAG8):c.*97G>A	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GConflicting classifications of pathogenicity
Select item 296917	NM_005465.7(AKT3):c.5398_5402dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia +2 more	GConflicting classifications of pathogenicity
Select item 152688	GRCh38/hg38 1q44(chr1:243514304-243527991)x3	AKT3	Copy number gain	See cases	GLikely benign
Select item 145215	GRCh38/hg38 1q44(chr1:243520743-243531432)x3	AKT3	Copy number gain	See cases	GBenign

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Links from Gene

Items: 68