Related gene-specific medical variations for Gene (Select 654463) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 2297921	NM_001039112.2(FER1L6):c.1663A>T (p.Thr555Ser)	FER1L6, FER1L6-AS1 (T555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288112	NM_001039112.2(FER1L6):c.2974T>C (p.Tyr992His)	FER1L6, FER1L6-AS2 (Y992H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2285716	NM_001039112.2(FER1L6):c.5295G>C (p.Lys1765Asn)	FER1L6, FER1L6-AS2 (K1765N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283059	NM_001039112.2(FER1L6):c.3384G>C (p.Gln1128His)	FER1L6, FER1L6-AS2 (Q1128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272100	NM_001039112.2(FER1L6):c.4141A>C (p.Ile1381Leu)	FER1L6, FER1L6-AS2 (I1381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255571	NM_001039112.2(FER1L6):c.3172C>G (p.His1058Asp)	FER1L6, FER1L6-AS2 (H1058D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246196	NM_001039112.2(FER1L6):c.3632T>C (p.Ile1211Thr)	FER1L6, FER1L6-AS2 (I1211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245018	NM_001039112.2(FER1L6):c.1670C>T (p.Pro557Leu)	FER1L6, FER1L6-AS1 (P557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244866	NM_001039112.2(FER1L6):c.3491C>T (p.Ser1164Phe)	FER1L6, FER1L6-AS2 (S1164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223217	NM_001039112.2(FER1L6):c.2923A>G (p.Ile975Val)	FER1L6, FER1L6-AS2 (I975V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2215170	NM_001039112.2(FER1L6):c.1916G>A (p.Arg639Gln)	FER1L6, FER1L6-AS1 (R639Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209159	NM_001039112.2(FER1L6):c.4418C>T (p.Thr1473Met)	FER1L6, FER1L6-AS2 (T1473M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206516	NM_001039112.2(FER1L6):c.4055A>T (p.His1352Leu)	FER1L6, FER1L6-AS2 (H1352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782708	NM_001039112.2(FER1L6):c.4908C>T (p.Asp1636=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770384	NM_001039112.2(FER1L6):c.2981T>G (p.Val994Gly)	FER1L6, FER1L6-AS2 (V994G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 768263	NM_001039112.2(FER1L6):c.4344C>T (p.Phe1448=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768262	NM_001039112.2(FER1L6):c.4089C>T (p.Val1363=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747023	NM_001039112.2(FER1L6):c.2827G>T (p.Gly943Trp)	FER1L6, FER1L6-AS2 (G943W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 744015	NM_001039112.2(FER1L6):c.2961G>A (p.Pro987=)	FER1L6, FER1L6-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 739759	NM_001039112.2(FER1L6):c.2781C>T (p.Asp927=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735142	NM_001039112.2(FER1L6):c.2414C>T (p.Ser805Phe)	FER1L6, FER1L6-AS1 (S805F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719720	NM_001039112.2(FER1L6):c.4236A>G (p.Gln1412=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716978	NM_001039112.2(FER1L6):c.3328G>A (p.Asp1110Asn)	FER1L6, FER1L6-AS2 (D1110N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563441	GRCh37/hg19 8q24.13(chr8:124890537-125009096)x1	FER1L6	Copy number loss	not provided	GUncertain significance
Select item 395013	GRCh37/hg19 8q24.13(chr8:124922842-124990998)x1	FER1L6	Copy number loss	See cases	GLikely benign

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Items: 79