ClinVar for Gene (Select 10806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	DESI2, SPMIP3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247845	NC_000001.10:g.(?_243303219)_(243859038_?)dup	AKT3, CEP170 +1 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3247839	NC_000001.10:g.(?_243433387)_(243437978_?)del	SDCCAG8	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 3247838	NC_000001.10:g.(?_243589709)_(243736370_?)del	AKT3, SDCCAG8	Deletion	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3247837	NC_000001.10:g.(?_243385006)_(243480215_?)del	CEP170, SDCCAG8	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 3247836	NC_000001.10:g.(?_243419466)_(243663097_?)del	AKT3, SDCCAG8	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 3242282	GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1	ADSS2, AKT3 +10 more	Copy number loss	not provided	GPathogenic
Select item 3158891	NM_006642.5(SDCCAG8):c.700G>A (p.Glu234Lys)	SDCCAG8 (E234K +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158890	NM_006642.5(SDCCAG8):c.64C>T (p.Arg22Trp)	SDCCAG8 (R22W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158889	NM_006642.5(SDCCAG8):c.1798A>G (p.Lys600Glu)	SDCCAG8 (K502E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065827	NM_006642.5(SDCCAG8):c.420+1G>A	SDCCAG8	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 16	GLikely pathogenic
Select item 3063488	GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1	ADSS2, AKT3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3059798	NM_006642.5(SDCCAG8):c.307-27TATT[3]	SDCCAG8	Microsatellite (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3058889	NM_005465.7(AKT3):c.*5453T>G	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	AKT3-related disorder	GLikely benign
Select item 3058176	NM_006642.5(SDCCAG8):c.477G>T (p.Gly159=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3057372	NM_006642.5(SDCCAG8):c.1667A>C (p.Gln556Pro)	SDCCAG8 (Q255P +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3051616	NM_006642.5(SDCCAG8):c.675+249C>A	SDCCAG8 (P249T)	Single nucleotide variant (missense variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3051325	NM_006642.5(SDCCAG8):c.1830G>A (p.Leu610=)	SDCCAG8	Single nucleotide variant (synonymous variant)	SDCCAG8-related disorder	GLikely benign
Select item 3051162	NM_006642.5(SDCCAG8):c.547-6T>A	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3047761	NM_006642.5(SDCCAG8):c.740+361C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3045671	NM_006642.5(SDCCAG8):c.1836A>G (p.Gln612=)	SDCCAG8	Single nucleotide variant (synonymous variant)	SDCCAG8-related disorder	GLikely benign
Select item 3044694	NM_006642.5(SDCCAG8):c.675+187T>C	SDCCAG8 (L228S)	Single nucleotide variant (missense variant +2 more)	SDCCAG8-related disorder	GLikely benign
Select item 3042711	NM_006642.5(SDCCAG8):c.705G>A (p.Lys235=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3040575	NM_006642.5(SDCCAG8):c.741-149G>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3035763	NM_006642.5(SDCCAG8):c.740+354C>G	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3035710	NM_006642.5(SDCCAG8):c.740+356C>G	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3035024	NM_006642.5(SDCCAG8):c.740+355C>G	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3032756	NM_006642.5(SDCCAG8):c.726A>G (p.Gln242=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3032365	NM_006642.5(SDCCAG8):c.1221+8A>C	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3029007	NM_006642.5(SDCCAG8):c.1974G>A (p.Thr658=)	SDCCAG8	Single nucleotide variant (synonymous variant)	SDCCAG8-related disorder	GLikely benign
Select item 3027132	NM_006642.5(SDCCAG8):c.393T>C (p.His131=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2954295	NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2954172	NM_006642.5(SDCCAG8):c.306+12C>T	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2953390	NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	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 2952517	NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2952081	NM_006642.5(SDCCAG8):c.930-17T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951908	NM_006642.5(SDCCAG8):c.68-19C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951852	NM_006642.5(SDCCAG8):c.1357-17T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951815	NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)	SDCCAG8 (Q165* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 2949759	NM_006642.5(SDCCAG8):c.1616+13C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2945300	NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2944021	NM_006642.5(SDCCAG8):c.1068+17G>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2943909	NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2943067	NM_006642.5(SDCCAG8):c.420+20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2942587	NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)	SDCCAG8 (E173fs +3 more)	Duplication (frameshift variant)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 2942141	NM_006642.5(SDCCAG8):c.930-7del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2940276	NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2939244	NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)	SDCCAG8	Deletion (nonsense)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 2938685	NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)	SDCCAG8 (E644G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2937967	NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)	SDCCAG8 (G15R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2937386	NM_006642.5(SDCCAG8):c.1745-8A>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2937350	NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2936630	NM_006642.5(SDCCAG8):c.221-14del	SDCCAG8	Deletion (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2936181	NM_006642.5(SDCCAG8):c.68-20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2935790	NM_006642.5(SDCCAG8):c.220+7G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2934878	NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2933911	NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)	SDCCAG8 (R564G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2933219	NM_006642.5(SDCCAG8):c.1616+19A>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2933083	NM_006642.5(SDCCAG8):c.1853+14T>C	SDCCAG8	Single nucleotide variant (intron variant)	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)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 2931486	NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 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 2930072	NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2929952	NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)	SDCCAG8 (E466G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2929169	NM_006642.5(SDCCAG8):c.221-13T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2929163	NM_006642.5(SDCCAG8):c.307-8dup	SDCCAG8	Duplication (intron variant)	Senior-Loken syndrome 7 +1 more	GBenign
Select item 2927792	NM_006642.5(SDCCAG8):c.421-11_421-8del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2926778	NM_006642.5(SDCCAG8):c.1745-14A>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2921570	NM_006642.5(SDCCAG8):c.657T>C (p.Ala219=)	SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921358	NM_006642.5(SDCCAG8):c.221-10T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921324	NM_006642.5(SDCCAG8):c.1985+15A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921319	NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2685842	GRCh37/hg19 1q43-44(chr1:243581091-244582134)x3	ADSS2, AKT3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
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 2636786	NM_006642.5(SDCCAG8):c.521G>A (p.Arg174Lys)	SDCCAG8 (R174K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2635557	NM_006642.5(SDCCAG8):c.1597C>T (p.His533Tyr)	SDCCAG8 (H232Y +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 2635543	NM_006642.5(SDCCAG8):c.2100G>C (p.Arg700=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2634964	NM_006642.5(SDCCAG8):c.190G>A (p.Ala64Thr)	SDCCAG8 (A64T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2634742	NM_006642.5(SDCCAG8):c.47A>G (p.Gln16Arg)	SDCCAG8 (Q16R)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2633268	NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)	SDCCAG8 (Q190* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GPathogenic/Likely pathogenic
Select item 2631678	NM_006642.5(SDCCAG8):c.1697A>G (p.Glu566Gly)	SDCCAG8 (E265G +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 2628913	NM_006642.5(SDCCAG8):c.336G>A (p.Met112Ile)	SDCCAG8 (M112I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2592172	NM_006642.5(SDCCAG8):c.1092G>T (p.Leu364Phe)	SDCCAG8 (L364F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2527230	NM_006642.5(SDCCAG8):c.2038C>G (p.Leu680Val)	AKT3, SDCCAG8 (L379V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504030	NM_006642.5(SDCCAG8):c.740+301G>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2429222	NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)	SDCCAG8 (N282fs +3 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 2425630	NC_000001.10:g.(?_243504321)_(243507653_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425629	NC_000001.10:g.(?_243456373)_(243456541_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425628	NC_000001.10:g.(?_243437825)_(243437978_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance

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