AFM[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 2610737	NM_001133.2(AFM):c.79C>T (p.Arg27Trp)	AFM (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274859	NM_001133.2(AFM):c.97A>G (p.Asn33Asp)	AFM (N33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093210	NM_001133.2(AFM):c.99T>G (p.Asn33Lys)	AFM (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601374	NM_001133.2(AFM):c.106C>A (p.Gln36Lys)	AFM (Q36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614541	NM_001133.2(AFM):c.172G>C (p.Ala58Pro)	AFM (A58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287260	NM_001133.2(AFM):c.205G>T (p.Asp69Tyr)	AFM (D69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226333	NM_001133.2(AFM):c.238G>A (p.Asp80Asn)	AFM (D80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093187	NM_001133.2(AFM):c.245C>T (p.Thr82Met)	AFM (T82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617657	NM_001133.2(AFM):c.257G>T (p.Cys86Phe)	AFM (C86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336082	NM_001133.2(AFM):c.350T>A (p.Val117Asp)	AFM (V117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597925	NM_001133.2(AFM):c.409C>T (p.Pro137Ser)	AFM (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274868	NM_001133.2(AFM):c.416T>C (p.Phe139Ser)	AFM (F139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280461	NM_001133.2(AFM):c.448G>C (p.Ala150Pro)	AFM (A150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093188	NM_001133.2(AFM):c.510C>A (p.Asn170Lys)	AFM (N170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093189	NM_001133.2(AFM):c.541G>A (p.Val181Ile)	AFM (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313862	NM_001133.2(AFM):c.599A>C (p.Asn200Thr)	AFM (N200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521088	NM_001133.2(AFM):c.632A>G (p.Gln211Arg)	AFM (Q211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395316	NM_001133.2(AFM):c.722C>T (p.Ala241Val)	AFM (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482591	NM_001133.2(AFM):c.773T>C (p.Leu258Pro)	AFM (L258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218651	NM_001133.2(AFM):c.799G>T (p.Asp267Tyr)	AFM (D267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274849	NM_001133.2(AFM):c.806G>A (p.Cys269Tyr)	AFM (C269Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380443	NM_001133.2(AFM):c.835C>T (p.Arg279Cys)	AFM (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242402	NM_001133.2(AFM):c.992G>A (p.Gly331Glu)	AFM (G331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324798	NM_001133.2(AFM):c.999T>A (p.Phe333Leu)	AFM (F333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570457	NM_001133.2(AFM):c.1007G>A (p.Ser336Asn)	AFM (S336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093133	NM_001133.2(AFM):c.1021C>G (p.Gln341Glu)	AFM (Q341E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354884	NM_001133.2(AFM):c.1055C>A (p.Ala352Glu)	AFM (A352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343439	NM_001133.2(AFM):c.1068T>G (p.Phe356Leu)	AFM (F356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346989	NM_001133.2(AFM):c.1070A>G (p.Glu357Gly)	AFM (E357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344128	NM_001133.2(AFM):c.1078A>G (p.Arg360Gly)	AFM (R360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602364	NM_001133.2(AFM):c.1117A>G (p.Ile373Val)	AFM (I373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373908	NM_001133.2(AFM):c.1189G>A (p.Ala397Thr)	AFM (A397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093152	NM_001133.2(AFM):c.1208A>G (p.Glu403Gly)	AFM (E403G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218743	NM_001133.2(AFM):c.1302G>C (p.Arg434Ser)	AFM (R434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273996	NM_001133.2(AFM):c.1315G>C (p.Ala439Pro)	AFM (A439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543809	NM_001133.2(AFM):c.1354G>A (p.Glu452Lys)	AFM (E452K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612380	NM_001133.2(AFM):c.1363G>T (p.Val455Leu)	AFM (V455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530462	NM_001133.2(AFM):c.1405G>A (p.Ala469Thr)	AFM (A469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093166	NM_001133.2(AFM):c.1433T>G (p.Val478Gly)	AFM (V478G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411354	NM_001133.2(AFM):c.1477C>T (p.Pro493Ser)	AFM (P493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411355	NM_001133.2(AFM):c.1478C>G (p.Pro493Arg)	AFM (P493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524268	NM_001133.2(AFM):c.1538T>G (p.Leu513Trp)	AFM (L513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544871	NM_001133.2(AFM):c.1658A>T (p.Asn553Ile)	AFM (N553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206625	NM_001133.2(AFM):c.1689T>G (p.Asp563Glu)	AFM (D563E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312936	NM_001133.2(AFM):c.1738T>G (p.Cys580Gly)	AFM (C580G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326009	NM_001133.2(AFM):c.1793G>A (p.Gly598Asp)	AFM (G598D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929334	GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3	AFM, AFP +3 more	Copy number gain	See cases	GUncertain significance
Select item 814569	GRCh37/hg19 4q13.3(chr4:74304764-74357478)x1	AFP, AFM	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562931	GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3	CXCL1, EPGN +15 more	Copy number gain	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 70