Related gene-specific medical variations for Gene (Select 84033) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 231

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3228514	NM_001386125.1(OBSCN):c.853G>A (p.Val285Met)	OBSCN, OBSCN-AS1 (V285M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3228512	NM_001386125.1(OBSCN):c.849C>T (p.Arg283=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228500	NM_001386125.1(OBSCN):c.786C>T (p.Thr262=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228481	NM_001386125.1(OBSCN):c.691C>A (p.Arg231Ser)	OBSCN, OBSCN-AS1 (R231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228458	NM_001386125.1(OBSCN):c.597A>G (p.Leu199=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228454	NM_001386125.1(OBSCN):c.556G>A (p.Ala186Thr)	OBSCN, OBSCN-AS1 (A186T)	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 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 3228425	NM_001386125.1(OBSCN):c.417G>A (p.Pro139=)	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 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 3228341	NM_001386125.1(OBSCN):c.20571C>T (p.Gly6857=)	LOC112577546, OBSCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3228226	NM_001386125.1(OBSCN):c.1116G>A (p.Leu372=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228211	NM_001386125.1(OBSCN):c.1027G>A (p.Glu343Lys)	OBSCN, OBSCN-AS1 (E343K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3203882	NM_001386125.1(OBSCN):c.959C>T (p.Thr320Ile)	OBSCN, OBSCN-AS1 (T320I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 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 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 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 3203724	NM_001386125.1(OBSCN):c.1004T>G (p.Phe335Cys)	OBSCN, OBSCN-AS1 (F335C)	Single nucleotide variant (non-coding transcript variant +1 more)	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 condition	GBenign
Select item 2689635	NM_001386125.1(OBSCN):c.15278C>T (p.Thr5093Met)	OBSCN (T4136M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689634	NM_001386125.1(OBSCN):c.8657G>A (p.Arg2886His)	OBSCN (R2457H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689633	NM_001386125.1(OBSCN):c.18887T>G (p.Met6296Arg)	OBSCN (M5339R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689632	NM_001386125.1(OBSCN):c.12244_12245delinsTT (p.Ala4082Phe)	OBSCN (A3653F +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2689631	NM_001386125.1(OBSCN):c.17726G>A (p.Gly5909Asp)	OBSCN (G4952D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639986	NM_001386125.1(OBSCN):c.989-7C>G	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2626543	NM_001386125.1(OBSCN):c.1155C>T (p.Thr385=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2626542	NM_001386125.1(OBSCN):c.552C>G (p.Val184=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2626526	NM_001386125.1(OBSCN):c.674G>T (p.Arg225Leu)	OBSCN, OBSCN-AS1 (R225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626493	NM_001386125.1(OBSCN):c.919G>A (p.Gly307Ser)	OBSCN, OBSCN-AS1 (G307S)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2564921	NM_001386125.1(OBSCN):c.20582T>C (p.Val6861Ala)	LOC112577546, OBSCN (V5904A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564920	NM_001386125.1(OBSCN):c.638G>A (p.Gly213Glu)	OBSCN, OBSCN-AS1 (G213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564891	NM_001386125.1(OBSCN):c.1013G>A (p.Arg338Gln)	OBSCN, OBSCN-AS1 (R338Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2564863	NM_001386125.1(OBSCN):c.20573A>G (p.His6858Arg)	LOC112577546, OBSCN (H5901R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2564852	NM_001386125.1(OBSCN):c.20580C>A (p.Ile6860=)	LOC112577546, OBSCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564840	NM_001386125.1(OBSCN):c.1091C>T (p.Ala364Val)	OBSCN, OBSCN-AS1 (A364V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2564835	NM_001386125.1(OBSCN):c.679C>A (p.Arg227Ser)	OBSCN, OBSCN-AS1 (R227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564833	NM_001386125.1(OBSCN):c.678G>A (p.Arg226=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564770	NM_001386125.1(OBSCN):c.553C>A (p.Arg185Ser)	OBSCN, OBSCN-AS1 (R185S)	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 2561988	NM_001386125.1(OBSCN):c.847C>T (p.Arg283Cys)	OBSCN, OBSCN-AS1 (R283C)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2561957	NM_001386125.1(OBSCN):c.20674C>T (p.Arg6892Trp)	OBSCN, LOC112577546 (R6892W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537416	NM_001386125.1(OBSCN):c.20623C>G (p.His6875Asp)	LOC112577546, OBSCN (H6875D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497504	NM_001386125.1(OBSCN):c.20687G>A (p.Arg6896His)	LOC112577546, OBSCN (R5939H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 2497498	NM_001386125.1(OBSCN):c.1109C>T (p.Thr370Met)	OBSCN, OBSCN-AS1 (T370M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2497483	NM_001386125.1(OBSCN):c.20632C>A (p.His6878Asn)	LOC112577546, OBSCN (H6878N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494511	NM_001386125.1(OBSCN):c.20670G>T (p.Lys6890Asn)	LOC112577546, OBSCN (K5933N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467383	NM_001386125.1(OBSCN):c.706C>G (p.Pro236Ala)	OBSCN, OBSCN-AS1 (P236A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2450190	NM_001386125.1(OBSCN):c.913G>C (p.Asp305His)	OBSCN, OBSCN-AS1 (D305H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2450131	NM_001386125.1(OBSCN):c.644C>A (p.Ser215Tyr)	OBSCN, OBSCN-AS1 (S215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450130	NM_001386125.1(OBSCN):c.643T>G (p.Ser215Ala)	OBSCN, OBSCN-AS1 (S215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450129	NM_001386125.1(OBSCN):c.638G>C (p.Gly213Ala)	OBSCN, OBSCN-AS1 (G213A)	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 2450117	NM_001386125.1(OBSCN):c.20607C>A (p.Arg6869=)	LOC112577546, OBSCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2450113	NM_001386125.1(OBSCN):c.20605C>T (p.Arg6869Cys)	LOC112577546, OBSCN (R6869C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2450096	NM_001386125.1(OBSCN):c.1041G>A (p.Lys347=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2450035	NM_001386125.1(OBSCN):c.66G>C (p.Ser22=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2450016	NM_001386125.1(OBSCN):c.750T>G (p.Thr250=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
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 2450010	NM_001386125.1(OBSCN):c.615C>A (p.Ala205=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2442246	NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter)	OBSCN (Y7317* +1 more)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 120	GPathogenic
Select item 2442245	NM_001386125.1(OBSCN):c.2653+1G>C	OBSCN	Single nucleotide variant (splice donor variant)	Rhabdomyolysis, susceptibility to, 1	GPathogenic
Select item 2408819	NM_001386125.1(OBSCN):c.559G>A (p.Glu187Lys)	OBSCN, OBSCN-AS1 (E187K)	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 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 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 2335291	NM_001386125.1(OBSCN):c.1166T>A (p.Leu389Gln)	OBSCN, OBSCN-AS1 (L389Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2330298	NM_001386125.1(OBSCN):c.1052C>T (p.Thr351Met)	OBSCN, OBSCN-AS1 (T351M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2329419	NM_001386125.1(OBSCN):c.637G>A (p.Gly213Arg)	OBSCN, OBSCN-AS1 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2301907	NM_001386125.1(OBSCN):c.26606G>T (p.Arg8869Leu)	LOC129932715, OBSCN (R7912L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259268	NM_001386125.1(OBSCN):c.1199C>T (p.Ala400Val)	OBSCN, OBSCN-AS1 (A400V)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2250823	NM_001386125.1(OBSCN):c.1009A>G (p.Lys337Glu)	OBSCN, OBSCN-AS1 (K337E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237547	NM_001386125.1(OBSCN):c.886C>T (p.Leu296Phe)	OBSCN-AS1, OBSCN (L296F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223050	NM_001386125.1(OBSCN):c.1198G>A (p.Ala400Thr)	OBSCN, OBSCN-AS1 (A400T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2195173	NM_001386125.1(OBSCN):c.20677C>T (p.Arg6893Ter)	OBSCN, LOC112577546 (R6893* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2071269	NM_001386125.1(OBSCN):c.1120del (p.Ala374fs)	OBSCN, OBSCN-AS1 (A374fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
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 1798785	NM_001386125.1(OBSCN):c.300C>T (p.Asp100=)	OBSCN, OBSCN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1788478	NM_001386125.1(OBSCN):c.1089C>T (p.Ala363=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
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 1787107	NM_001386125.1(OBSCN):c.1083T>C (p.Thr361=)	OBSCN, OBSCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign

<< First< Prev

Page of 3