10000[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 337

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	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 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	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 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	LOC128598893, LOC128598894 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	LOC122152349, LOC122152350 +272 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	OR11L1, OR13G1 +264 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932970, LOC129932971 +253 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 243062	Single allele	AKT3, AKT3-IT1 +33 more	Deletion	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	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 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 660672	NC_000001.11:g.(?_242268256)_(243843190_?)del	LOC122152353, PLD5 +15 more	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
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 151741	GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3	ADSS2, AKT3 +65 more	Copy number gain	See cases	GUncertain significance
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	ADSS2, AHCTF1 +237 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	LOC122152355, LOC122152356 +230 more	Copy number gain	See cases	GPathogenic
Select item 154601	GRCh38/hg38 1q43-44(chr1:243145749-244433395)x1	ADSS2, AKT3 +27 more	Copy number loss	See cases	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 60158	GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1	ADSS2, AKT3 +66 more	Copy number loss	See cases	GPathogenic
Select item 59378	GRCh38/hg38 1q43-44(chr1:243225391-243572999)x1	AKT3, CEP170 +6 more	Copy number loss	See cases	GUncertain significance
Select item 144563	GRCh38/hg38 1q43-44(chr1:243264192-244668463)x1	ADSS2, AKT3 +36 more	Copy number loss	See cases	GPathogenic
Select item 59395	GRCh38/hg38 1q43-44(chr1:243264206-243716856)x1	AKT3, LOC110120698 +7 more	Copy number loss	See cases	GUncertain significance
Select item 59394	GRCh38/hg38 1q43-44(chr1:243264206-243677283)x1	AKT3, LOC122152351 +6 more	Copy number loss	See cases	GUncertain significance
Select item 57342	GRCh38/hg38 1q43-44(chr1:243264206-243561717)x1	AKT3, LOC122152351 +5 more	Copy number loss	See cases	GUncertain significance
Select item 154615	GRCh38/hg38 1q43-44(chr1:243304751-244019666)x3	AKT3, AKT3-IT1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 59396	GRCh38/hg38 1q43-44(chr1:243395234-243719262)x1	AKT3, LOC110120698 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1098424	GRCh38/hg38 1q43-44(chr1:243433667-243744233)x1	AKT3, LOC110120698 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1569039	NM_006642.5(SDCCAG8):c.1986-17G>C	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1125528	NM_006642.5(SDCCAG8):c.1986-6C>T	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +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 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 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 1510905	NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis)	AKT3, SDCCAG8	Duplication (inframe_insertion +1 more)	Bardet-Biedl syndrome 16 +1 more	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 1154854	NM_006642.5(SDCCAG8):c.2013G>A (p.Gln671=)	SDCCAG8, AKT3	Single nucleotide variant (synonymous variant +1 more)	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)	Senior-Loken syndrome 7 +1 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)	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 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 2082989	NM_006642.5(SDCCAG8):c.2034G>C (p.Val678=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	SDCCAG8-related condition +2 more	GLikely benign
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 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 1379090	NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr)	SDCCAG8, AKT3 (N587Y +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1590375	NM_006642.5(SDCCAG8):c.2055C>T (p.Asn685=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1337418	NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1084994	NM_006642.5(SDCCAG8):c.2061T>C (p.Leu687=)	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)	Bardet-Biedl syndrome 16 +1 more	GConflicting classifications of pathogenicity
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 2932643	NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	SDCCAG8-related condition +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)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2103858	NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)	AKT3, SDCCAG8 (S392N +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
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 1549752	NM_006642.5(SDCCAG8):c.2085G>T (p.Ser695=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +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 1533567	NM_006642.5(SDCCAG8):c.2098C>A (p.Arg700=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1056755	NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)	AKT3, SDCCAG8 (R399W +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +2 more	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 condition	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)	Senior-Loken syndrome 7 +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 2200129	NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)	SDCCAG8, AKT3 (T703I +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +2 more	GUncertain significance
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 1575874	NM_006642.5(SDCCAG8):c.2112+8G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1141592	NM_006642.5(SDCCAG8):c.2112+17G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2127337	NM_006642.5(SDCCAG8):c.2112+20G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 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 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 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 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 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 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 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

<< First< Prev

Page of 4