SOBP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 560095	NC_000006.12:g.107174371_107825273del	LOC123775394, LOC129389601 +9 more	Deletion	not provided	GUncertain significance
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 756452	NM_018013.4(SOBP):c.24G>C (p.Gly8=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798033	NM_018013.4(SOBP):c.38A>G (p.Asn13Ser)	SOBP (N13S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656815	NM_018013.4(SOBP):c.45G>C (p.Arg15=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656816	NM_018013.4(SOBP):c.47G>A (p.Ser16Asn)	SOBP (S16N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212279	NM_018013.4(SOBP):c.219C>T (p.His73=)	SOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 212286	NM_018013.4(SOBP):c.265G>A (p.Glu89Lys)	SOBP (E89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 722121	NM_018013.4(SOBP):c.282A>G (p.Ser94=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130362	NM_018013.4(SOBP):c.319A>G (p.Thr107Ala)	SOBP (T107A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 761956	NM_018013.4(SOBP):c.399A>G (p.Pro133=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436834	NM_018013.4(SOBP):c.413C>T (p.Pro138Leu)	SOBP (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336283	NM_018013.4(SOBP):c.414A>G (p.Pro138=)	SOBP	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1032014	NM_018013.4(SOBP):c.415C>T (p.Pro139Ser)	SOBP (P139S)	Single nucleotide variant (missense variant)	Intellectual disability, anterior maxillary protrusion, and strabismus	GUncertain significance
Select item 2244717	NM_018013.4(SOBP):c.444A>C (p.Gln148His)	SOBP (Q148H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397725	NM_018013.4(SOBP):c.458G>C (p.Trp153Ser)	SOBP (W153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544804	NM_018013.4(SOBP):c.526G>A (p.Glu176Lys)	SOBP (E176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299911	NM_018013.4(SOBP):c.539C>T (p.Ala180Val)	SOBP (A180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212287	NM_018013.4(SOBP):c.573+12G>A	SOBP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1032015	NM_018013.4(SOBP):c.574-3C>T	SOBP	Single nucleotide variant (intron variant)	Intellectual disability, anterior maxillary protrusion, and strabismus	GUncertain significance
Select item 1679784	NM_018013.4(SOBP):c.622G>A (p.Ala208Thr)	SOBP (A208T)	Single nucleotide variant (missense variant)	Intellectual disability, anterior maxillary protrusion, and strabismus	GUncertain significance
Select item 2318189	NM_018013.4(SOBP):c.631A>G (p.Thr211Ala)	SOBP (T211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475912	NM_018013.4(SOBP):c.639G>T (p.Arg213Ser)	SOBP (R213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762501	NM_018013.4(SOBP):c.813T>A (p.Leu271=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238727	NM_018013.4(SOBP):c.922C>G (p.Arg308Gly)	SOBP (R308G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236919	NM_018013.4(SOBP):c.931G>T (p.Ala311Ser)	SOBP (A311S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742593	NM_018013.4(SOBP):c.960A>G (p.Gln320=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624260	NM_018013.4(SOBP):c.976C>T (p.Pro326Ser)	SOBP (P326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624261	NM_018013.4(SOBP):c.980C>T (p.Ser327Leu)	SOBP (S327L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301389	NM_018013.4(SOBP):c.1078A>C (p.Asn360His)	SOBP (N360H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336974	NM_018013.4(SOBP):c.1116C>T (p.Ile372=)	SOBP	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2477247	NM_018013.4(SOBP):c.1117G>C (p.Gly373Arg)	SOBP (G373R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436826	NM_018013.4(SOBP):c.1118G>T (p.Gly373Val)	SOBP (G373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673073	NM_018013.4(SOBP):c.1209C>T (p.Ile403=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267970	NM_018013.4(SOBP):c.1273C>A (p.Pro425Thr)	SOBP (P425T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212276	NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser)	SOBP (P441S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 130357	NM_018013.4(SOBP):c.1382A>C (p.His461Pro)	SOBP (H461P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243625	NM_018013.4(SOBP):c.1384C>T (p.Pro462Ser)	SOBP (P462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067282	NM_018013.4(SOBP):c.1389G>C (p.Pro463=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792817	NM_018013.4(SOBP):c.1398C>A (p.Pro466=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212277	NM_018013.4(SOBP):c.1416C>A (p.Pro472=)	SOBP	Single nucleotide variant (synonymous variant)	Intellectual disability, anterior maxillary protrusion, and strabismus +2 more	GBenign/Likely benign
Select item 2656817	NM_018013.4(SOBP):c.1419A>C (p.Pro473=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758864	NM_018013.4(SOBP):c.1500G>T (p.Pro500=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436827	NM_018013.4(SOBP):c.1530G>C (p.Gly510=)	SOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 932593	NM_018013.4(SOBP):c.1584C>G (p.Pro528=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757407	NM_018013.4(SOBP):c.1593G>A (p.Val531=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130360	NM_018013.4(SOBP):c.1615A>G (p.Ile539Val)	SOBP (I539V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2532993	NM_018013.4(SOBP):c.1691C>G (p.Pro564Arg)	SOBP (P564R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592190	NM_018013.4(SOBP):c.1712C>T (p.Ala571Val)	SOBP (A571V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436828	NM_018013.4(SOBP):c.1725C>G (p.Gly575=)	SOBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 436829	NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser)	SOBP (P577S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2329001	NM_018013.4(SOBP):c.1734C>A (p.Ser578Arg)	SOBP (S578R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400262	NM_018013.4(SOBP):c.1739A>G (p.His580Arg)	SOBP (H580R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716742	NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro)	SOBP (S583P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2276909	NM_018013.4(SOBP):c.1748C>A (p.Ser583Tyr)	SOBP (S583Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527817	NM_018013.4(SOBP):c.1753C>T (p.Arg585Trp)	SOBP (R585W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594488	NM_018013.4(SOBP):c.1760C>T (p.Ser587Phe)	SOBP (S587F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239321	NM_018013.4(SOBP):c.1788C>G (p.Asp596Glu)	SOBP (D596E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730166	NM_018013.4(SOBP):c.1797C>T (p.Pro599=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130358	NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys)	SOBP (Q604K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 769686	NM_018013.4(SOBP):c.1888CCCCCGGGC[3] (p.630PPG[3])	SOBP	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2656818	NM_018013.4(SOBP):c.1893G>A (p.Pro631=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514803	NM_018013.4(SOBP):c.1894G>A (p.Gly632Ser)	SOBP (G632S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478002	NM_018013.4(SOBP):c.1895G>C (p.Gly632Ala)	SOBP (G632A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212278	NM_018013.4(SOBP):c.1896C>T (p.Gly632=)	SOBP	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 130359	NM_018013.4(SOBP):c.1905C>T (p.Gly635=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2401616	NM_018013.4(SOBP):c.1917G>C (p.Gln639His)	SOBP (Q639H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750094	NM_018013.4(SOBP):c.1920C>G (p.Leu640=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436830	NM_018013.4(SOBP):c.1937T>A (p.Leu646Gln)	SOBP (L646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044327	NM_018013.4(SOBP):c.1947G>T (p.Pro649=)	SOBP	Single nucleotide variant (synonymous variant)	SOBP-related condition	GLikely benign
Select item 2656819	NM_018013.4(SOBP):c.1947G>A (p.Pro649=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214872	NM_018013.4(SOBP):c.1960A>T (p.Ile654Phe)	SOBP (I654F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436835	NM_018013.4(SOBP):c.1970C>G (p.Thr657Ser)	SOBP (T657S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18392	NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter)	SOBP (R661*)	Single nucleotide variant (nonsense)	Intellectual disability, anterior maxillary protrusion, and strabismus	GPathogenic
Select item 2338918	NM_018013.4(SOBP):c.2005C>T (p.His669Tyr)	SOBP (H669Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534613	NM_018013.4(SOBP):c.2025C>A (p.His675Gln)	SOBP (H675Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130361	NM_018013.4(SOBP):c.2047A>G (p.Ser683Gly)	SOBP (S683G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2292495	NM_018013.4(SOBP):c.2051C>T (p.Ala684Val)	SOBP (A684V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476804	NM_018013.4(SOBP):c.2057A>G (p.Glu686Gly)	SOBP (E686G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436831	NM_018013.4(SOBP):c.2105C>T (p.Ala702Val)	SOBP (A702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755735	NM_018013.4(SOBP):c.2133G>A (p.Pro711=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397821	NM_018013.4(SOBP):c.2144A>C (p.Glu715Ala)	SOBP (E715A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996991	NM_018013.4(SOBP):c.2163C>A (p.Asn721Lys)	SOBP (N721K)	Single nucleotide variant (missense variant)	Intellectual disability, anterior maxillary protrusion, and strabismus	GUncertain significance
Select item 2490506	NM_018013.4(SOBP):c.2189C>T (p.Ala730Val)	SOBP (A730V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360532	NM_018013.4(SOBP):c.2189C>G (p.Ala730Gly)	SOBP (A730G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 716871	NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup)	SOBP	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 212280	NM_018013.4(SOBP):c.2232GCC[9] (p.Pro750_Pro751dup)	SOBP	Microsatellite (inframe_insertion)	not specified	GUncertain significance
Select item 1336256	NM_018013.4(SOBP):c.2232GCC[4] (p.Pro749_Pro751del)	SOBP	Microsatellite (inframe_deletion)	SOBP-related condition +1 more	GLikely benign
Select item 212281	NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del)	SOBP (P751del)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 735516	NM_018013.4(SOBP):c.2253C>T (p.Pro751=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760607	NM_018013.4(SOBP):c.2256G>A (p.Ala752=)	SOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355292	NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser)	SOBP (P754S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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