ClinVar for Gene (Select 654463) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278514	NM_001039112.2(FER1L6):c.3605T>C (p.Ile1202Thr)	FER1L6, FER1L6-AS2 (I1202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278513	NM_001039112.2(FER1L6):c.2446T>C (p.Ser816Pro)	FER1L6, FER1L6-AS1 (S816P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278512	NM_001039112.2(FER1L6):c.3757G>A (p.Gly1253Arg)	FER1L6, FER1L6-AS2 (G1253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278511	NM_001039112.2(FER1L6):c.3313A>G (p.Thr1105Ala)	FER1L6, FER1L6-AS2 (T1105A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278510	NM_001039112.2(FER1L6):c.506G>A (p.Gly169Glu)	FER1L6 (G169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278509	NM_001039112.2(FER1L6):c.1734G>C (p.Lys578Asn)	FER1L6, FER1L6-AS1 (K578N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278508	NM_001039112.2(FER1L6):c.4019G>C (p.Gly1340Ala)	FER1L6, FER1L6-AS2 (G1340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278506	NM_001039112.2(FER1L6):c.4318A>T (p.Thr1440Ser)	FER1L6, FER1L6-AS2 (T1440S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278505	NM_001039112.2(FER1L6):c.761G>C (p.Gly254Ala)	FER1L6 (G254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278504	NM_001039112.2(FER1L6):c.5471A>G (p.Tyr1824Cys)	FER1L6, FER1L6-AS2 (Y1824C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278503	NM_001039112.2(FER1L6):c.3814C>T (p.Pro1272Ser)	FER1L6, FER1L6-AS2 (P1272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278502	NM_001039112.2(FER1L6):c.3163G>A (p.Glu1055Lys)	FER1L6, FER1L6-AS2 (E1055K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
Select item 3094458	NM_001039112.2(FER1L6):c.875G>A (p.Arg292Gln)	FER1L6 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094457	NM_001039112.2(FER1L6):c.789G>T (p.Met263Ile)	FER1L6 (M263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094456	NM_001039112.2(FER1L6):c.727G>T (p.Ala243Ser)	FER1L6 (A243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094455	NM_001039112.2(FER1L6):c.701A>G (p.Asn234Ser)	FER1L6 (N234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094454	NM_001039112.2(FER1L6):c.698C>T (p.Pro233Leu)	FER1L6 (P233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094453	NM_001039112.2(FER1L6):c.551C>T (p.Ala184Val)	FER1L6 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094452	NM_001039112.2(FER1L6):c.5516T>C (p.Val1839Ala)	FER1L6, FER1L6-AS2 (V1839A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094451	NM_001039112.2(FER1L6):c.545A>G (p.Lys182Arg)	FER1L6 (K182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094450	NM_001039112.2(FER1L6):c.5330A>C (p.Glu1777Ala)	FER1L6, FER1L6-AS2 (E1777A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094448	NM_001039112.2(FER1L6):c.5068G>A (p.Ala1690Thr)	FER1L6, FER1L6-AS2 (A1690T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094447	NM_001039112.2(FER1L6):c.5042T>C (p.Leu1681Ser)	FER1L6, FER1L6-AS2 (L1681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094446	NM_001039112.2(FER1L6):c.4689G>A (p.Met1563Ile)	FER1L6, FER1L6-AS2 (M1563I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094444	NM_001039112.2(FER1L6):c.4051A>G (p.Asn1351Asp)	FER1L6, FER1L6-AS2 (N1351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094443	NM_001039112.2(FER1L6):c.3785T>C (p.Leu1262Pro)	FER1L6, FER1L6-AS2 (L1262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094442	NM_001039112.2(FER1L6):c.3777C>A (p.Asp1259Glu)	FER1L6, FER1L6-AS2 (D1259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094441	NM_001039112.2(FER1L6):c.3494C>T (p.Pro1165Leu)	FER1L6, FER1L6-AS2 (P1165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094440	NM_001039112.2(FER1L6):c.3442G>A (p.Asp1148Asn)	FER1L6, FER1L6-AS2 (D1148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094439	NM_001039112.2(FER1L6):c.3374G>A (p.Ser1125Asn)	FER1L6, FER1L6-AS2 (S1125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094438	NM_001039112.2(FER1L6):c.3287T>C (p.Leu1096Pro)	FER1L6, FER1L6-AS2 (L1096P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094437	NM_001039112.2(FER1L6):c.2573A>G (p.His858Arg)	FER1L6, FER1L6-AS1 (H858R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094436	NM_001039112.2(FER1L6):c.2240G>A (p.Gly747Glu)	FER1L6, FER1L6-AS1 (G747E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094435	NM_001039112.2(FER1L6):c.2236G>A (p.Ala746Thr)	FER1L6, FER1L6-AS1 (A746T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094434	NM_001039112.2(FER1L6):c.2155G>A (p.Val719Ile)	FER1L6, FER1L6-AS1 (V719I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094433	NM_001039112.2(FER1L6):c.2150C>G (p.Pro717Arg)	FER1L6, FER1L6-AS1 (P717R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094432	NM_001039112.2(FER1L6):c.2059A>G (p.Lys687Glu)	FER1L6, FER1L6-AS1 (K687E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094430	NM_001039112.2(FER1L6):c.1950G>T (p.Lys650Asn)	FER1L6, FER1L6-AS1 (K650N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094429	NM_001039112.2(FER1L6):c.1889A>G (p.Lys630Arg)	FER1L6, FER1L6-AS1 (K630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094428	NM_001039112.2(FER1L6):c.1769A>G (p.Gln590Arg)	FER1L6, FER1L6-AS1 (Q590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094427	NM_001039112.2(FER1L6):c.1495C>T (p.Pro499Ser)	FER1L6, FER1L6-AS1 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094426	NM_001039112.2(FER1L6):c.1478G>A (p.Arg493Gln)	FER1L6, FER1L6-AS1 (R493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094425	NM_001039112.2(FER1L6):c.1109C>T (p.Ser370Leu)	FER1L6 (S370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094424	NM_001039112.2(FER1L6):c.1004C>A (p.Ala335Asp)	FER1L6 (A335D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094423	NM_001039112.2(FER1L6):c.1000G>A (p.Val334Ile)	FER1L6 (V334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2658794	NM_001039112.2(FER1L6):c.4221-8G>C	FER1L6, FER1L6-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2623072	NM_001039112.2(FER1L6):c.2483T>C (p.Leu828Pro)	FER1L6, FER1L6-AS1 (L828P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619293	NM_001039112.2(FER1L6):c.2161A>T (p.Ile721Phe)	FER1L6, FER1L6-AS1 (I721F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605956	NM_001039112.2(FER1L6):c.290G>A (p.Gly97Asp)	FER1L6 (G97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600877	NM_001039112.2(FER1L6):c.4775G>A (p.Arg1592Gln)	FER1L6, FER1L6-AS2 (R1592Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595467	NM_001039112.2(FER1L6):c.2206G>A (p.Ala736Thr)	FER1L6, FER1L6-AS1 (A736T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594459	NM_001039112.2(FER1L6):c.667G>A (p.Glu223Lys)	FER1L6 (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2568517	NM_001039112.2(FER1L6):c.55C>G (p.Leu19Val)	FER1L6 (L19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548855	NM_001039112.2(FER1L6):c.787A>G (p.Met263Val)	FER1L6 (M263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543790	NM_001039112.2(FER1L6):c.1907T>A (p.Phe636Tyr)	FER1L6, FER1L6-AS1 (F636Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543011	NM_001039112.2(FER1L6):c.3407A>G (p.Tyr1136Cys)	FER1L6, FER1L6-AS2 (Y1136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535888	NM_001039112.2(FER1L6):c.3811A>G (p.Ile1271Val)	FER1L6, FER1L6-AS2 (I1271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529344	NM_001039112.2(FER1L6):c.992T>A (p.Met331Lys)	FER1L6 (M331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525643	NM_001039112.2(FER1L6):c.1994C>G (p.Thr665Arg)	FER1L6, FER1L6-AS1 (T665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520300	NM_001039112.2(FER1L6):c.4559C>G (p.Thr1520Arg)	FER1L6, FER1L6-AS2 (T1520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516712	NM_001039112.2(FER1L6):c.5246G>A (p.Arg1749His)	FER1L6, FER1L6-AS2 (R1749H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481773	NM_001039112.2(FER1L6):c.1640T>A (p.Val547Asp)	FER1L6, FER1L6-AS1 (V547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480221	NM_001039112.2(FER1L6):c.1124G>T (p.Ser375Ile)	FER1L6 (S375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475343	NM_001039112.2(FER1L6):c.2113A>G (p.Ile705Val)	FER1L6, FER1L6-AS1 (I705V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475342	NM_001039112.2(FER1L6):c.1249A>G (p.Lys417Glu)	FER1L6 (K417E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473932	NM_001039112.2(FER1L6):c.5369C>T (p.Pro1790Leu)	FER1L6, FER1L6-AS2 (P1790L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472971	NM_001039112.2(FER1L6):c.1976T>C (p.Leu659Ser)	FER1L6, FER1L6-AS1 (L659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472469	NM_001039112.2(FER1L6):c.439A>C (p.Lys147Gln)	FER1L6 (K147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472029	NM_001039112.2(FER1L6):c.2830A>T (p.Asn944Tyr)	FER1L6, FER1L6-AS2 (N944Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464908	NM_001039112.2(FER1L6):c.5465A>G (p.Lys1822Arg)	FER1L6, FER1L6-AS2 (K1822R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2425276	NC_000008.10:g.(?_124545411)_(125559374_?)dup	TATDN1, TMEM65 +8 more	Duplication	not provided	GUncertain significance
Select item 2409420	NM_001039112.2(FER1L6):c.1891A>T (p.Thr631Ser)	FER1L6, FER1L6-AS1 (T631S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401044	NM_001039112.2(FER1L6):c.2188G>A (p.Val730Met)	FER1L6, FER1L6-AS1 (V730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400710	NM_001039112.2(FER1L6):c.3418G>A (p.Glu1140Lys)	FER1L6, FER1L6-AS2 (E1140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378030	NM_001039112.2(FER1L6):c.2006A>G (p.Gln669Arg)	FER1L6, FER1L6-AS1 (Q669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373229	NM_001039112.2(FER1L6):c.5560G>A (p.Val1854Ile)	FER1L6, FER1L6-AS2 (V1854I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370850	NM_001039112.2(FER1L6):c.1832T>C (p.Ile611Thr)	FER1L6, FER1L6-AS1 (I611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365268	NM_001039112.2(FER1L6):c.4327G>A (p.Asp1443Asn)	FER1L6, FER1L6-AS2 (D1443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365152	NM_001039112.2(FER1L6):c.2112A>T (p.Lys704Asn)	FER1L6, FER1L6-AS1 (K704N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356500	NM_001039112.2(FER1L6):c.3236C>T (p.Thr1079Ile)	FER1L6, FER1L6-AS2 (T1079I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352514	NM_001039112.2(FER1L6):c.1779G>C (p.Arg593Ser)	FER1L6, FER1L6-AS1 (R593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344546	NM_001039112.2(FER1L6):c.511G>A (p.Val171Met)	FER1L6 (V171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340330	NM_001039112.2(FER1L6):c.3529G>C (p.Glu1177Gln)	FER1L6, FER1L6-AS2 (E1177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339999	NM_001039112.2(FER1L6):c.64A>C (p.Lys22Gln)	FER1L6 (K22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338086	NM_001039112.2(FER1L6):c.2014G>A (p.Glu672Lys)	FER1L6, FER1L6-AS1 (E672K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330883	NM_001039112.2(FER1L6):c.3872T>C (p.Phe1291Ser)	FER1L6, FER1L6-AS2 (F1291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326204	NM_001039112.2(FER1L6):c.4247C>T (p.Pro1416Leu)	FER1L6, FER1L6-AS2 (P1416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317439	NM_001039112.2(FER1L6):c.131C>G (p.Pro44Arg)	FER1L6 (P44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302144	NM_001039112.2(FER1L6):c.770A>G (p.Lys257Arg)	FER1L6 (K257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300804	NM_001039112.2(FER1L6):c.367A>G (p.Ser123Gly)	FER1L6 (S123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300753	NM_001039112.2(FER1L6):c.956G>A (p.Arg319Gln)	FER1L6 (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297921	NM_001039112.2(FER1L6):c.1663A>T (p.Thr555Ser)	FER1L6, FER1L6-AS1 (T555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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