OBSCN[gene] - ClinVar - NCBI

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	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 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
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 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	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 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	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 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 221378	GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1	GJC2, GUK1 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1272669	NM_001386125.1(OBSCN):c.-3C>G	OBSCN, OBSCN-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3203814	NM_001386125.1(OBSCN):c.21C>A (p.Ser7Arg)	OBSCN, OBSCN-AS1 (S7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497501	NM_001386125.1(OBSCN):c.34T>G (p.Phe12Val)	OBSCN, OBSCN-AS1 (F12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523062	NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)	OBSCN, OBSCN-AS1 (F12Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3301904	NM_001386125.1(OBSCN):c.41C>T (p.Thr14Ile)	OBSCN, OBSCN-AS1 (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228427	NM_001386125.1(OBSCN):c.41C>A (p.Thr14Asn)	OBSCN, OBSCN-AS1 (T14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740307	NM_001386125.1(OBSCN):c.43C>T (p.Arg15Trp)	OBSCN, OBSCN-AS1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740300	NM_001386125.1(OBSCN):c.43C>G (p.Arg15Gly)	OBSCN, OBSCN-AS1 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450035	NM_001386125.1(OBSCN):c.66G>C (p.Ser22=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2210937	NM_001386125.1(OBSCN):c.67G>A (p.Val23Met)	OBSCN, OBSCN-AS1 (V23M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 747581	NM_001386125.1(OBSCN):c.84C>G (p.Thr28=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3228520	NM_001386125.1(OBSCN):c.87C>T (p.Leu29=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2306510	NM_001386125.1(OBSCN):c.103G>C (p.Gly35Arg)	OBSCN, OBSCN-AS1 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626483	NM_001386125.1(OBSCN):c.109C>G (p.Pro37Ala)	OBSCN, OBSCN-AS1 (P37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450118	NM_001386125.1(OBSCN):c.114G>A (p.Thr38=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1769628	NM_001386125.1(OBSCN):c.130G>A (p.Glu44Lys)	OBSCN, OBSCN-AS1 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770809	NM_001386125.1(OBSCN):c.135G>C (p.Lys45Asn)	OBSCN, OBSCN-AS1 (K45N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780308	NM_001386125.1(OBSCN):c.144G>A (p.Gln48=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1773543	NM_001386125.1(OBSCN):c.147G>T (p.Pro49=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3203756	NM_001386125.1(OBSCN):c.152C>T (p.Ala51Val)	OBSCN, OBSCN-AS1 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774813	NM_001386125.1(OBSCN):c.153G>A (p.Ala51=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3203758	NM_001386125.1(OBSCN):c.157G>T (p.Gly53Cys)	OBSCN, OBSCN-AS1 (G53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228311	NM_001386125.1(OBSCN):c.159C>T (p.Gly53=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1778535	NM_001386125.1(OBSCN):c.170G>T (p.Arg57Leu)	OBSCN, OBSCN-AS1 (R57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402794	NM_001386125.1(OBSCN):c.185G>A (p.Gly62Asp)	OBSCN, OBSCN-AS1 (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055327	NM_001386125.1(OBSCN):c.187G>A (p.Asp63Asn)	OBSCN, OBSCN-AS1 (D63N)	Single nucleotide variant (missense variant)	OBSCN-related disorder	GBenign
Select item 2314127	NM_001386125.1(OBSCN):c.197G>T (p.Arg66Leu)	OBSCN, OBSCN-AS1 (R66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1785520	NM_001386125.1(OBSCN):c.207C>A (p.Ile69=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1786231	NM_001386125.1(OBSCN):c.211G>T (p.Asp71Tyr)	OBSCN, OBSCN-AS1 (D71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787560	NM_001386125.1(OBSCN):c.219G>A (p.Ala73=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2258045	NM_001386125.1(OBSCN):c.224G>A (p.Gly75Asp)	OBSCN, OBSCN-AS1 (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795402	NM_001386125.1(OBSCN):c.273C>G (p.Ala91=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3203833	NM_001386125.1(OBSCN):c.277G>C (p.Ala93Pro)	OBSCN, OBSCN-AS1 (A93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274576	NM_001386125.1(OBSCN):c.282T>C (p.Ala94=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1798785	NM_001386125.1(OBSCN):c.300C>T (p.Asp100=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1798897	NM_001386125.1(OBSCN):c.301G>A (p.Ala101Thr)	OBSCN, OBSCN-AS1 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624615	NM_001386125.1(OBSCN):c.302C>T (p.Ala101Val)	OBSCN, OBSCN-AS1 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564754	NM_001386125.1(OBSCN):c.303G>A (p.Ala101=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228405	NM_001386125.1(OBSCN):c.304G>C (p.Glu102Gln)	OBSCN, OBSCN-AS1 (E102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728774	NM_001386125.1(OBSCN):c.319G>C (p.Glu107Gln)	OBSCN, OBSCN-AS1 (E107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728768	NM_001386125.1(OBSCN):c.319G>A (p.Glu107Lys)	OBSCN, OBSCN-AS1 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729400	NM_001386125.1(OBSCN):c.324G>A (p.Gln108=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1729719	NM_001386125.1(OBSCN):c.327G>A (p.Ala109=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1730073	NM_001386125.1(OBSCN):c.330G>T (p.Pro110=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1730801	NM_001386125.1(OBSCN):c.337C>G (p.Leu113Val)	OBSCN, OBSCN-AS1 (L113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1732673	NM_001386125.1(OBSCN):c.355A>G (p.Ile119Val)	OBSCN, OBSCN-AS1 (I119V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2450094	NM_001386125.1(OBSCN):c.364C>T (p.Arg122Cys)	OBSCN, OBSCN-AS1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733873	NM_001386125.1(OBSCN):c.367G>C (p.Glu123Gln)	OBSCN, OBSCN-AS1 (E123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1734189	NM_001386125.1(OBSCN):c.370G>A (p.Gly124Ser)	OBSCN, OBSCN-AS1 (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1735021	NM_001386125.1(OBSCN):c.379G>A (p.Ala127Thr)	OBSCN, OBSCN-AS1 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1735502	NM_001386125.1(OBSCN):c.384C>T (p.Thr128=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3302091	NM_001386125.1(OBSCN):c.389G>A (p.Arg130His)	OBSCN, OBSCN-AS1 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450062	NM_001386125.1(OBSCN):c.394C>A (p.Arg132Ser)	OBSCN, OBSCN-AS1 (R132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450011	NM_001386125.1(OBSCN):c.410C>G (p.Pro137Arg)	OBSCN, OBSCN-AS1 (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737996	NM_001386125.1(OBSCN):c.411G>A (p.Pro137=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228422	NM_001386125.1(OBSCN):c.412A>G (p.Arg138Gly)	OBSCN, OBSCN-AS1 (R138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228425	NM_001386125.1(OBSCN):c.417G>A (p.Pro139=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738491	NM_001386125.1(OBSCN):c.417G>T (p.Pro139=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564876	NM_001386125.1(OBSCN):c.434A>C (p.Lys145Thr)	OBSCN, OBSCN-AS1 (K145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740201	NM_001386125.1(OBSCN):c.438C>T (p.Asp146=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3257348	NM_001386125.1(OBSCN):c.449T>G (p.Leu150Arg)	OBSCN, OBSCN-AS1 (L150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1741269	NM_001386125.1(OBSCN):c.452G>A (p.Gly151Asp)	OBSCN, OBSCN-AS1 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1741700	NM_001386125.1(OBSCN):c.458C>T (p.Pro153Leu)	OBSCN, OBSCN-AS1 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450102	NM_001386125.1(OBSCN):c.470G>A (p.Arg157His)	OBSCN, OBSCN-AS1 (R157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742713	NM_001386125.1(OBSCN):c.472G>A (p.Val158Met)	OBSCN, OBSCN-AS1 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301981	NM_001386125.1(OBSCN):c.476G>A (p.Arg159His)	OBSCN, OBSCN-AS1 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742960	NM_001386125.1(OBSCN):c.476G>T (p.Arg159Leu)	OBSCN, OBSCN-AS1 (R159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346193	NM_001386125.1(OBSCN):c.481G>A (p.Glu161Lys)	OBSCN, OBSCN-AS1 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1743764	NM_001386125.1(OBSCN):c.487C>G (p.Leu163Val)	OBSCN, OBSCN-AS1 (L163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228442	NM_001386125.1(OBSCN):c.489C>T (p.Leu163=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1744040	NM_001386125.1(OBSCN):c.490G>A (p.Gly164Ser)	OBSCN, OBSCN-AS1 (G164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1744457	NM_001386125.1(OBSCN):c.496G>A (p.Ala166Thr)	OBSCN, OBSCN-AS1 (A166T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2450104	NM_001386125.1(OBSCN):c.499A>C (p.Ser167Arg)	OBSCN, OBSCN-AS1 (S167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561968	NM_001386125.1(OBSCN):c.501T>A (p.Ser167Arg)	OBSCN, OBSCN-AS1 (S167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344828	NM_001386125.1(OBSCN):c.509G>C (p.Arg170Pro)	OBSCN, OBSCN-AS1 (R170P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1745985	NM_001386125.1(OBSCN):c.519G>A (p.Ala173=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746220	NM_001386125.1(OBSCN):c.522G>C (p.Ala174=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2639985	NM_001386125.1(OBSCN):c.531C>T (p.Arg177=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1746912	NM_001386125.1(OBSCN):c.533A>C (p.Asp178Ala)	OBSCN, OBSCN-AS1 (D178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302021	NM_001386125.1(OBSCN):c.534C>T (p.Asp178=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561965	NM_001386125.1(OBSCN):c.535G>A (p.Gly179Ser)	OBSCN, OBSCN-AS1 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1747065	NM_001386125.1(OBSCN):c.535G>T (p.Gly179Cys)	OBSCN, OBSCN-AS1 (G179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626542	NM_001386125.1(OBSCN):c.552C>G (p.Val184=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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