ClinVar for Gene (Select 79930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2615358	NM_001308236.3(DOK3):c.269G>T (p.Arg90Leu)	DOK3 (R89L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596710	NM_001308236.3(DOK3):c.1283G>A (p.Arg428His)	DOK3 (R428H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596475	NM_001308236.3(DOK3):c.1135G>A (p.Gly379Ser)	DOK3 (G379S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589950	NM_024872.2(DOK3):c.8G>A (p.Arg3Gln)	DOK3, LOC129995394 (R3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2588322	NM_001308236.3(DOK3):c.1168G>A (p.Asp390Asn)	DOK3 (D389N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570467	NM_001308236.3(DOK3):c.967G>A (p.Gly323Arg)	DOK3 (G323R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547012	NM_001308236.3(DOK3):c.185G>A (p.Gly62Glu)	DOK3 (G61E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547011	NM_001308236.3(DOK3):c.-182G>C	DOK3, LOC129995394	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546204	NM_024872.2(DOK3):c.8G>C (p.Arg3Pro)	DOK3, LOC129995394 (R3P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541134	NM_001308236.3(DOK3):c.-102G>T	DOK3	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539956	NM_001308236.3(DOK3):c.955G>T (p.Asp319Tyr)	DOK3 (D318Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536511	NM_001308236.3(DOK3):c.371C>T (p.Pro124Leu)	DOK3, LOC129995393 (P124L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525210	NM_001308236.3(DOK3):c.1058C>T (p.Thr353Met)	DOK3 (T352M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525000	NM_001308236.3(DOK3):c.118G>A (p.Val40Met)	DOK3 (V40M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514163	NM_001308236.3(DOK3):c.656C>T (p.Ser219Phe)	DOK3 (S219F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484055	NM_001308236.3(DOK3):c.769C>T (p.Arg257Trp)	DOK3 (R257W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478468	NM_001308236.3(DOK3):c.34A>G (p.Ile12Val)	DOK3 (I12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460168	NM_001308236.3(DOK3):c.649G>A (p.Val217Met)	DOK3 (V216M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	GUncertain significance
Select item 2426285	NC_000005.9:g.(?_176935330)_(176942071_?)del	DDX41, DOK3	Deletion	not provided	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2404599	NM_024872.2(DOK3):c.23G>A (p.Arg8Gln)	DOK3, LOC129995394 (R8Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404540	NM_001308236.3(DOK3):c.602A>G (p.Tyr201Cys)	DOK3 (Y99C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399250	NM_001308236.3(DOK3):c.884C>T (p.Thr295Met)	DOK3 (T294M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395898	NM_001308236.3(DOK3):c.487G>A (p.Val163Met)	DOK3 (V163M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394097	NM_001308236.3(DOK3):c.616C>T (p.His206Tyr)	DOK3 (H104Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386248	NM_001308236.3(DOK3):c.511G>A (p.Ala171Thr)	DOK3 (A171T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382674	NM_001308236.3(DOK3):c.-69G>A	DOK3	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375424	NM_001308236.3(DOK3):c.*844A>G	DOK3 (Q300R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372450	NM_001308236.3(DOK3):c.101C>T (p.Ala34Val)	DOK3 (A34V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372184	NM_001308236.3(DOK3):c.*867C>T	DOK3 (L308F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366399	NM_001308236.3(DOK3):c.953A>G (p.Asn318Ser)	DOK3 (N318S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2365484	NM_001308236.3(DOK3):c.1160C>T (p.Pro387Leu)	DOK3 (P386L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329998	NM_001308236.3(DOK3):c.1314C>G (p.Asp438Glu)	DOK3 (D437E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327213	NM_001308236.3(DOK3):c.305G>A (p.Arg102Gln)	DOK3 (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300888	NM_001308236.3(DOK3):c.271G>T (p.Asp91Tyr)	DOK3 (D90Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296679	NM_001308236.3(DOK3):c.148G>A (p.Asp50Asn)	DOK3 (D50N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276149	NM_001308236.3(DOK3):c.956A>C (p.Asp319Ala)	DOK3 (D318A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267915	NM_001308236.3(DOK3):c.1003C>A (p.Pro335Thr)	DOK3 (P334T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262400	NM_001308236.3(DOK3):c.388T>C (p.Ser130Pro)	DOK3 (S129P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244811	NM_001308236.3(DOK3):c.517C>T (p.Arg173Cys)	DOK3 (R172C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235363	NM_001308236.3(DOK3):c.992G>A (p.Arg331His)	DOK3 (R330H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224137	NM_001308236.3(DOK3):c.301G>A (p.Glu101Lys)	DOK3 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208033	NM_001308236.3(DOK3):c.962C>T (p.Ala321Val)	DOK3 (A321V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206447	NM_001308236.3(DOK3):c.929C>T (p.Pro310Leu)	DOK3 (P310L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807957	GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1807876	GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3	DBN1, DDX41 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807722	GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1437053	NC_000005.9:g.(?_176047812)_(177422934_?)del	B4GALT7, DBN1 +26 more	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	TMED9, TSPAN17 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	B4GALT7, CDHR2 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 687644	GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4	B4GALT7, DBN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 684934	GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1	B4GALT7, DBN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 563129	GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	DBN1, DDX41 +23 more	Copy number loss	not provided	GPathogenic
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 560112	Single allele	B4GALT7, DBN1 +13 more	Duplication	not provided	GUncertain significance
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	LOC129995366, LOC129995367 +113 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	LOC129995362, LOC129995363 +142 more	Copy number loss	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	LOC129995388, LOC129995389 +145 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic

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