84188[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 1237394	NM_032228.6(FAR1):c.-7-124G>A	FAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320619	NM_032228.6(FAR1):c.12C>T (p.Ile4=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2814148	NM_032228.6(FAR1):c.13C>G (p.Pro5Ala)	FAR1 (P5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939965	NM_032228.6(FAR1):c.24T>C (p.Tyr8=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665400	NM_032228.6(FAR1):c.36C>T (p.Asn12=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461997	NM_032228.6(FAR1):c.37G>A (p.Val13Ile)	FAR1 (V13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764260	NM_032228.6(FAR1):c.40CTC[1] (p.Leu15del)	FAR1 (L15del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1589937	NM_032228.6(FAR1):c.54T>G (p.Ala18=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906920	NM_032228.6(FAR1):c.57C>T (p.Thr19=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1333446	NM_032228.6(FAR1):c.58G>A (p.Gly20Ser)	FAR1 (G20S)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency +1 more	GUncertain significance
Select item 1385482	NM_032228.6(FAR1):c.64C>G (p.Leu22Val)	FAR1 (L22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605211	NM_032228.6(FAR1):c.88T>C (p.Leu30=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958375	NM_032228.6(FAR1):c.102T>C (p.Cys34=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717269	NM_032228.6(FAR1):c.104C>G (p.Pro35Arg)	FAR1 (P35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655561	NM_032228.6(FAR1):c.111G>A (p.Val37=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131956	NM_032228.6(FAR1):c.122A>G (p.Tyr41Cys)	FAR1 (Y41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169952	NM_032228.6(FAR1):c.135G>A (p.Arg45=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401616	NM_032228.6(FAR1):c.136C>G (p.Gln46Glu)	FAR1 (Q46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539404	NM_032228.6(FAR1):c.144T>G (p.Ala48=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104974	NM_032228.6(FAR1):c.156A>G (p.Pro52=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961992	NM_032228.6(FAR1):c.160G>C (p.Glu54Gln)	FAR1 (E54Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860111	NM_032228.6(FAR1):c.163C>T (p.Arg55Ter)	FAR1 (R55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1522849	NM_032228.6(FAR1):c.169G>A (p.Glu57Lys)	FAR1 (E57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778419	NM_032228.6(FAR1):c.175G>A (p.Val59Ile)	FAR1 (V59I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1648054	NM_032228.6(FAR1):c.189+20A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258694	NM_032228.6(FAR1):c.189+29A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274695	NM_032228.6(FAR1):c.189+117dup	FAR1	Duplication (intron variant)	not provided	GBenign
Select item 1284040	NM_032228.6(FAR1):c.189+118C>A	FAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616934	NM_032228.6(FAR1):c.190-11C>A	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028483	NM_032228.6(FAR1):c.190-8C>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791311	NM_032228.6(FAR1):c.190-5G>T	FAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946328	NM_032228.6(FAR1):c.190C>G (p.Leu64Val)	FAR1 (L64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483770	NM_032228.6(FAR1):c.200G>T (p.Arg67Ile)	FAR1 (R67I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370715	NM_032228.6(FAR1):c.200G>A (p.Arg67Lys)	FAR1 (R67K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991251	NM_032228.6(FAR1):c.205A>G (p.Arg69Gly)	FAR1 (R69G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544924	NM_032228.6(FAR1):c.209A>G (p.Asp70Gly)	FAR1 (D70G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2838310	NM_032228.6(FAR1):c.212A>G (p.Glu71Gly)	FAR1 (E71G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094248	NM_032228.6(FAR1):c.217C>A (p.Pro73Thr)	FAR1 (P73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847956	NM_032228.6(FAR1):c.220G>T (p.Asp74Tyr)	FAR1 (D74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849345	NM_032228.6(FAR1):c.225T>G (p.Phe75Leu)	FAR1 (F75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703900	NM_032228.6(FAR1):c.227G>C (p.Arg76Thr)	FAR1 (R76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971913	NM_032228.6(FAR1):c.229G>C (p.Glu77Gln)	FAR1 (E77Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441355	NM_032228.6(FAR1):c.231G>T (p.Glu77Asp)	FAR1 (E77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164890	NM_032228.6(FAR1):c.239T>C (p.Ile80Thr)	FAR1 (I80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776301	NM_032228.6(FAR1):c.242C>G (p.Ala81Gly)	FAR1 (A81G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950002	NM_032228.6(FAR1):c.248A>G (p.Asn83Ser)	FAR1 (N83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2333757	NM_032228.6(FAR1):c.250A>C (p.Ser84Arg)	FAR1 (S84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636073	NM_032228.6(FAR1):c.252C>T (p.Ser84=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382872	NM_032228.6(FAR1):c.253G>A (p.Glu85Lys)	FAR1 (E85K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790757	NM_032228.6(FAR1):c.256C>G (p.Leu86Val)	FAR1 (L86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799826	NM_032228.6(FAR1):c.258C>A (p.Leu86=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643290	NM_032228.6(FAR1):c.261C>G (p.Thr87=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497725	NM_032228.6(FAR1):c.266C>G (p.Pro89Arg)	FAR1 (P89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356945	NM_032228.6(FAR1):c.286G>C (p.Glu96Gln)	FAR1 (E96Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 719360	NM_032228.6(FAR1):c.286G>A (p.Glu96Lys)	FAR1 (E96K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2007174	NM_032228.6(FAR1):c.289G>C (p.Asp97His)	FAR1 (D97H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120555	NM_032228.6(FAR1):c.295G>C (p.Glu99Gln)	FAR1 (E99Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3092859	NM_032228.6(FAR1):c.298G>A (p.Val100Met)	FAR1 (V100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006570	NM_032228.6(FAR1):c.301A>G (p.Ile101Val)	FAR1 (I101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001897	NM_032228.6(FAR1):c.303C>G (p.Ile101Met)	FAR1 (I101M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646429	NM_032228.6(FAR1):c.303C>T (p.Ile101=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376691	NM_032228.6(FAR1):c.304A>G (p.Ile102Val)	FAR1 (I102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1975437	NM_032228.6(FAR1):c.307G>A (p.Asp103Asn)	FAR1 (D103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2799370	NM_032228.6(FAR1):c.311C>G (p.Ser104Cys)	FAR1 (S104C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644366	NM_032228.6(FAR1):c.365+7A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108194	NM_032228.6(FAR1):c.365+8C>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597096	NM_032228.6(FAR1):c.365+9_365+10del	FAR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2010631	NM_032228.6(FAR1):c.365+19_365+25del	FAR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1229964	NM_032228.6(FAR1):c.365+160TCT[5]	FAR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249710	NM_032228.6(FAR1):c.365+200A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962768	NM_032228.6(FAR1):c.366-19A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007146	NM_032228.6(FAR1):c.366-12C>A	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664079	NM_032228.6(FAR1):c.366-12del	FAR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1568077	NM_032228.6(FAR1):c.366-7del	FAR1	Deletion (intron variant)	not provided	GBenign
Select item 1932688	NM_032228.6(FAR1):c.366-8T>A	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674085	NM_032228.6(FAR1):c.372T>C (p.Ala124=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793333	NM_032228.6(FAR1):c.387G>T (p.Val129=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986878	NM_032228.6(FAR1):c.388A>G (p.Ile130Val)	FAR1 (I130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390054	NM_032228.6(FAR1):c.390T>G (p.Ile130Met)	FAR1 (I130M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718767	NM_032228.6(FAR1):c.392C>G (p.Ala131Gly)	FAR1 (A131G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354716	NM_032228.6(FAR1):c.395C>T (p.Thr132Met)	FAR1 (T132M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553233	NM_032228.6(FAR1):c.396G>A (p.Thr132=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751366	NM_032228.6(FAR1):c.397C>T (p.Arg133Ter)	FAR1 (R133*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 290391	NM_032228.6(FAR1):c.398G>A (p.Arg133Gln)	FAR1 (R133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347886	NM_032228.6(FAR1):c.406A>G (p.Ile136Val)	FAR1 (I136V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955394	NM_032228.6(FAR1):c.409C>T (p.Leu137Phe)	FAR1 (L137F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580240	NM_032228.6(FAR1):c.411C>G (p.Leu137=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405791	NM_032228.6(FAR1):c.420A>G (p.Gln140=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1495859	NM_032228.6(FAR1):c.423A>T (p.Gln141His)	FAR1 (Q141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072061	NM_032228.6(FAR1):c.424A>G (p.Met142Val)	FAR1 (M142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875655	NM_032228.6(FAR1):c.444C>T (p.Phe148=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968514	NM_032228.6(FAR1):c.445A>G (p.Met149Val)	FAR1 (M149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622798	NM_032228.6(FAR1):c.450T>C (p.His150=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106742	NM_032228.6(FAR1):c.451G>C (p.Val151Leu)	FAR1 (V151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718825	NM_032228.6(FAR1):c.454T>A (p.Ser152Thr)	FAR1 (S152T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663226	NM_032228.6(FAR1):c.465T>C (p.Tyr155=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857232	NM_032228.6(FAR1):c.478C>A (p.Arg160Ser)	FAR1 (R160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519489	NM_032228.6(FAR1):c.478C>T (p.Arg160Cys)	FAR1 (R160C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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