FER1L6-AS2[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	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 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
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 747023	NM_001039112.2(FER1L6):c.2827G>T (p.Gly943Trp)	FER1L6-AS2, FER1L6 (G943W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 716978	NM_001039112.2(FER1L6):c.3328G>A (p.Asp1110Asn)	FER1L6, FER1L6-AS2 (D1110N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 768262	NM_001039112.2(FER1L6):c.4089C>T (p.Val1363=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2658794	NM_001039112.2(FER1L6):c.4221-8G>C	FER1L6, FER1L6-AS2	Single nucleotide variant (intron 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 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 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 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 768263	NM_001039112.2(FER1L6):c.4344C>T (p.Phe1448=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209159	NM_001039112.2(FER1L6):c.4418C>T (p.Thr1473Met)	FER1L6, FER1L6-AS2 (T1473M)	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 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 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 782708	NM_001039112.2(FER1L6):c.4908C>T (p.Asp1636=)	FER1L6, FER1L6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	See cases	GPathogenic

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Items: 76