10806[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 797

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +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	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 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 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 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	OR2T34, OR2T35 +254 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 +244 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	LOC122152351, AKT3 +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	LOC126806079, LOC126806080 +119 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	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 154601	GRCh38/hg38 1q43-44(chr1:243145749-244433395)x1	LOC112577566, LOC122152351 +27 more	Copy number loss	See cases	GPathogenic
Select item 149089	GRCh38/hg38 1q43(chr1:243173925-243462410)x1	CEP170, LOC122152351 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 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 296898	NM_006642.5(SDCCAG8):c.-131T>C	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296899	NM_006642.5(SDCCAG8):c.-130C>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296900	NM_006642.5(SDCCAG8):c.-121C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296901	NM_006642.5(SDCCAG8):c.-106G>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296902	NM_006642.5(SDCCAG8):c.-98C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 260005	NM_006642.5(SDCCAG8):c.-47T>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 296903	NM_006642.5(SDCCAG8):c.-4G>A	SDCCAG8	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 3347615	NM_006642.5(SDCCAG8):c.10T>C (p.Ser4Pro)	SDCCAG8 (S4P)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3352833	NM_006642.5(SDCCAG8):c.11C>T (p.Ser4Phe)	SDCCAG8 (S4F)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 2176103	NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)	SDCCAG8 (S4C)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1985166	NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1137572	NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1491235	NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu)	SDCCAG8 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1649550	NM_006642.5(SDCCAG8):c.15G>T (p.Pro5=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 959154	NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln)	SDCCAG8 (E6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1470091	NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)	SDCCAG8 (S8P)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3353517	NM_006642.5(SDCCAG8):c.25A>G (p.Thr9Ala)	SDCCAG8 (T9A)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
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 649596	NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)	SDCCAG8 (E11Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3348745	NM_006642.5(SDCCAG8):c.36G>C (p.Glu12Asp)	SDCCAG8 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 1443186	NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe)	SDCCAG8 (I13F)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +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 1918532	NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)	SDCCAG8 (Q16*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
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 2930072	NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1513320	NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)	SDCCAG8 (Q16H)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2114010	NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)	SDCCAG8	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1148798	NM_006642.5(SDCCAG8):c.63C>T (p.Leu21=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
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 631599	NM_006642.5(SDCCAG8):c.67+1dup	SDCCAG8	Duplication (splice donor variant)	SDCCAG8-related disorder	GUncertain significance
Select item 969829	NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1928879	NM_006642.5(SDCCAG8):c.67+10T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1664694	NM_006642.5(SDCCAG8):c.67+17CT[3]	SDCCAG8	Microsatellite (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1498825	NM_006642.5(SDCCAG8):c.67+17C>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1670522	NM_006642.5(SDCCAG8):c.67+18T>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2050608	NM_006642.5(SDCCAG8):c.67+20T>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1564756	NM_006642.5(SDCCAG8):c.67+20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1250280	NM_006642.5(SDCCAG8):c.67+164T>C	SDCCAG8	Single nucleotide variant (intron variant)	not provided	GBenign
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 2936181	NM_006642.5(SDCCAG8):c.68-20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +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 1139239	NM_006642.5(SDCCAG8):c.68-18G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1007622	NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly)	SDCCAG8 (E23G)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2026548	NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)	SDCCAG8 (H24R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 971501	NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)	SDCCAG8 (S26G)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2160069	NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)	SDCCAG8 (S28fs)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 1388930	NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)	SDCCAG8 (S28N)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1284848	NM_006642.5(SDCCAG8):c.93A>G (p.Gln31=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1179068	NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)	SDCCAG8 (A35fs)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 8