"Ambry Genetics"[submitter] AND "OBSCN-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497501	NM_001386125.1(OBSCN):c.34T>G (p.Phe12Val)	OBSCN, OBSCN-AS1 (F12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740307	NM_001386125.1(OBSCN):c.43C>T (p.Arg15Trp)	OBSCN, OBSCN-AS1 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740300	NM_001386125.1(OBSCN):c.43C>G (p.Arg15Gly)	OBSCN, OBSCN-AS1 (R15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450035	NM_001386125.1(OBSCN):c.66G>C (p.Ser22=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2210937	NM_001386125.1(OBSCN):c.67G>A (p.Val23Met)	OBSCN, OBSCN-AS1 (V23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 747581	NM_001386125.1(OBSCN):c.84C>G (p.Thr28=)	OBSCN-AS1, OBSCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2306510	NM_001386125.1(OBSCN):c.103G>C (p.Gly35Arg)	OBSCN-AS1, OBSCN (G35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626483	NM_001386125.1(OBSCN):c.109C>G (p.Pro37Ala)	OBSCN, OBSCN-AS1 (P37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450118	NM_001386125.1(OBSCN):c.114G>A (p.Thr38=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769628	NM_001386125.1(OBSCN):c.130G>A (p.Glu44Lys)	OBSCN, OBSCN-AS1 (E44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770809	NM_001386125.1(OBSCN):c.135G>C (p.Lys45Asn)	OBSCN, OBSCN-AS1 (K45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780308	NM_001386125.1(OBSCN):c.144G>A (p.Gln48=)	OBSCN-AS1, OBSCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1773543	NM_001386125.1(OBSCN):c.147G>T (p.Pro49=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1774813	NM_001386125.1(OBSCN):c.153G>A (p.Ala51=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778535	NM_001386125.1(OBSCN):c.170G>T (p.Arg57Leu)	OBSCN-AS1, OBSCN (R57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402794	NM_001386125.1(OBSCN):c.185G>A (p.Gly62Asp)	OBSCN, OBSCN-AS1 (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314127	NM_001386125.1(OBSCN):c.197G>T (p.Arg66Leu)	OBSCN-AS1, OBSCN (R66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785520	NM_001386125.1(OBSCN):c.207C>A (p.Ile69=)	OBSCN-AS1, OBSCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1786231	NM_001386125.1(OBSCN):c.211G>T (p.Asp71Tyr)	OBSCN, OBSCN-AS1 (D71Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787560	NM_001386125.1(OBSCN):c.219G>A (p.Ala73=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2258045	NM_001386125.1(OBSCN):c.224G>A (p.Gly75Asp)	OBSCN, OBSCN-AS1 (G75D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1795402	NM_001386125.1(OBSCN):c.273C>G (p.Ala91=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1798785	NM_001386125.1(OBSCN):c.300C>T (p.Asp100=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1798897	NM_001386125.1(OBSCN):c.301G>A (p.Ala101Thr)	OBSCN, OBSCN-AS1 (A101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624615	NM_001386125.1(OBSCN):c.302C>T (p.Ala101Val)	OBSCN-AS1, OBSCN (A101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564754	NM_001386125.1(OBSCN):c.303G>A (p.Ala101=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1728774	NM_001386125.1(OBSCN):c.319G>C (p.Glu107Gln)	OBSCN, OBSCN-AS1 (E107Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1728768	NM_001386125.1(OBSCN):c.319G>A (p.Glu107Lys)	OBSCN, OBSCN-AS1 (E107K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1729400	NM_001386125.1(OBSCN):c.324G>A (p.Gln108=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1729719	NM_001386125.1(OBSCN):c.327G>A (p.Ala109=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1730073	NM_001386125.1(OBSCN):c.330G>T (p.Pro110=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1730801	NM_001386125.1(OBSCN):c.337C>G (p.Leu113Val)	OBSCN, OBSCN-AS1 (L113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1732673	NM_001386125.1(OBSCN):c.355A>G (p.Ile119Val)	OBSCN, OBSCN-AS1 (I119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2450094	NM_001386125.1(OBSCN):c.364C>T (p.Arg122Cys)	OBSCN, OBSCN-AS1 (R122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1733873	NM_001386125.1(OBSCN):c.367G>C (p.Glu123Gln)	OBSCN, OBSCN-AS1 (E123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734189	NM_001386125.1(OBSCN):c.370G>A (p.Gly124Ser)	OBSCN, OBSCN-AS1 (G124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735021	NM_001386125.1(OBSCN):c.379G>A (p.Ala127Thr)	OBSCN, OBSCN-AS1 (A127T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735502	NM_001386125.1(OBSCN):c.384C>T (p.Thr128=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2450062	NM_001386125.1(OBSCN):c.394C>A (p.Arg132Ser)	OBSCN, OBSCN-AS1 (R132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450011	NM_001386125.1(OBSCN):c.410C>G (p.Pro137Arg)	OBSCN, OBSCN-AS1 (P137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737996	NM_001386125.1(OBSCN):c.411G>A (p.Pro137=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1738491	NM_001386125.1(OBSCN):c.417G>T (p.Pro139=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2564876	NM_001386125.1(OBSCN):c.434A>C (p.Lys145Thr)	OBSCN, OBSCN-AS1 (K145T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740201	NM_001386125.1(OBSCN):c.438C>T (p.Asp146=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1741269	NM_001386125.1(OBSCN):c.452G>A (p.Gly151Asp)	OBSCN, OBSCN-AS1 (G151D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741700	NM_001386125.1(OBSCN):c.458C>T (p.Pro153Leu)	OBSCN, OBSCN-AS1 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450102	NM_001386125.1(OBSCN):c.470G>A (p.Arg157His)	OBSCN, OBSCN-AS1 (R157H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742713	NM_001386125.1(OBSCN):c.472G>A (p.Val158Met)	OBSCN, OBSCN-AS1 (V158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742960	NM_001386125.1(OBSCN):c.476G>T (p.Arg159Leu)	OBSCN, OBSCN-AS1 (R159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346193	NM_001386125.1(OBSCN):c.481G>A (p.Glu161Lys)	OBSCN-AS1, OBSCN (E161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743764	NM_001386125.1(OBSCN):c.487C>G (p.Leu163Val)	OBSCN, OBSCN-AS1 (L163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1744040	NM_001386125.1(OBSCN):c.490G>A (p.Gly164Ser)	OBSCN, OBSCN-AS1 (G164S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2561968	NM_001386125.1(OBSCN):c.501T>A (p.Ser167Arg)	OBSCN, OBSCN-AS1 (S167R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344828	NM_001386125.1(OBSCN):c.509G>C (p.Arg170Pro)	OBSCN, OBSCN-AS1 (R170P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1745985	NM_001386125.1(OBSCN):c.519G>A (p.Ala173=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746220	NM_001386125.1(OBSCN):c.522G>C (p.Ala174=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746912	NM_001386125.1(OBSCN):c.533A>C (p.Asp178Ala)	OBSCN, OBSCN-AS1 (D178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561965	NM_001386125.1(OBSCN):c.535G>A (p.Gly179Ser)	OBSCN, OBSCN-AS1 (G179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1747065	NM_001386125.1(OBSCN):c.535G>T (p.Gly179Cys)	OBSCN, OBSCN-AS1 (G179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626542	NM_001386125.1(OBSCN):c.552C>G (p.Val184=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2564770	NM_001386125.1(OBSCN):c.553C>A (p.Arg185Ser)	OBSCN, OBSCN-AS1 (R185S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408819	NM_001386125.1(OBSCN):c.559G>A (p.Glu187Lys)	OBSCN-AS1, OBSCN (E187K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1748685	NM_001386125.1(OBSCN):c.561G>C (p.Glu187Asp)	OBSCN-AS1, OBSCN (E187D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749695	NM_001386125.1(OBSCN):c.579C>A (p.Ala193=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751445	NM_001386125.1(OBSCN):c.607T>C (p.Ser203Pro)	OBSCN, OBSCN-AS1 (S203P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751571	NM_001386125.1(OBSCN):c.609G>A (p.Ser203=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2450010	NM_001386125.1(OBSCN):c.615C>A (p.Ala205=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751998	NM_001386125.1(OBSCN):c.616G>A (p.Ala206Thr)	OBSCN, OBSCN-AS1 (A206T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752783	NM_001386125.1(OBSCN):c.630C>T (p.Ser210=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2329419	NM_001386125.1(OBSCN):c.637G>A (p.Gly213Arg)	OBSCN, OBSCN-AS1 (G213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564920	NM_001386125.1(OBSCN):c.638G>A (p.Gly213Glu)	OBSCN, OBSCN-AS1 (G213E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450129	NM_001386125.1(OBSCN):c.638G>C (p.Gly213Ala)	OBSCN, OBSCN-AS1 (G213A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450130	NM_001386125.1(OBSCN):c.643T>G (p.Ser215Ala)	OBSCN, OBSCN-AS1 (S215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450131	NM_001386125.1(OBSCN):c.644C>A (p.Ser215Tyr)	OBSCN, OBSCN-AS1 (S215Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753995	NM_001386125.1(OBSCN):c.651C>A (p.Ala217=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1754956	NM_001386125.1(OBSCN):c.669G>A (p.Leu223=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2626526	NM_001386125.1(OBSCN):c.674G>T (p.Arg225Leu)	OBSCN, OBSCN-AS1 (R225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564833	NM_001386125.1(OBSCN):c.678G>A (p.Arg226=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2564835	NM_001386125.1(OBSCN):c.679C>A (p.Arg227Ser)	OBSCN, OBSCN-AS1 (R227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755836	NM_001386125.1(OBSCN):c.685G>T (p.Ala229Ser)	OBSCN, OBSCN-AS1 (A229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756679	NM_001386125.1(OBSCN):c.700G>A (p.Gly234Ser)	OBSCN-AS1, OBSCN (G234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756719	NM_001386125.1(OBSCN):c.701G>T (p.Gly234Val)	OBSCN, OBSCN-AS1 (G234V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756766	NM_001386125.1(OBSCN):c.702C>A (p.Gly234=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2467383	NM_001386125.1(OBSCN):c.706C>G (p.Pro236Ala)	OBSCN, OBSCN-AS1 (P236A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1756990	NM_001386125.1(OBSCN):c.706C>T (p.Pro236Ser)	OBSCN, OBSCN-AS1 (P236S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757080	NM_001386125.1(OBSCN):c.708C>T (p.Pro236=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 225073	NM_001386125.1(OBSCN):c.727G>C (p.Gly243Arg)	OBSCN, OBSCN-AS1 (G243R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1758303	NM_001386125.1(OBSCN):c.731C>T (p.Thr244Met)	OBSCN, OBSCN-AS1 (T244M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758362	NM_001386125.1(OBSCN):c.732G>A (p.Thr244=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1758547	NM_001386125.1(OBSCN):c.736A>G (p.Thr246Ala)	OBSCN, OBSCN-AS1 (T246A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450016	NM_001386125.1(OBSCN):c.750T>G (p.Thr250=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1759412	NM_001386125.1(OBSCN):c.753A>C (p.Glu251Asp)	OBSCN, OBSCN-AS1 (E251D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1759937	NM_001386125.1(OBSCN):c.763G>C (p.Ala255Pro)	OBSCN, OBSCN-AS1 (A255P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760027	NM_001386125.1(OBSCN):c.765G>T (p.Ala255=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1760726	NM_001386125.1(OBSCN):c.780C>T (p.Tyr260=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1761003	NM_001386125.1(OBSCN):c.787G>T (p.Gly263Cys)	OBSCN, OBSCN-AS1 (G263C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760996	NM_001386125.1(OBSCN):c.787G>A (p.Gly263Ser)	OBSCN, OBSCN-AS1 (G263S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1761677	NM_001386125.1(OBSCN):c.801C>G (p.Pro267=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign

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