84466[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 907371	NM_032446.2(MEGF10):c.-348C>A	MEGF10	Single nucleotide variant (genic upstream transcript variant)	MEGF10-related myopathy	GUncertain significance
Select item 904033	NM_001256545.2(MEGF10):c.-219G>T	MEGF10	Single nucleotide variant (5 prime UTR variant)	MEGF10-related myopathy	GUncertain significance
Select item 350630	NM_001256545.2(MEGF10):c.-197T>C	MEGF10	Single nucleotide variant (5 prime UTR variant)	MEGF10-related myopathy	GUncertain significance
Select item 904034	NM_001256545.2(MEGF10):c.-152A>G	MEGF10	Single nucleotide variant (5 prime UTR variant)	MEGF10-related myopathy	GUncertain significance
Select item 350631	NM_001256545.2(MEGF10):c.-122G>A	MEGF10	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 350632	NM_001256545.2(MEGF10):c.-96A>C	MEGF10	Single nucleotide variant (5 prime UTR variant)	MEGF10-related myopathy	GUncertain significance
Select item 1233494	NM_001256545.2(MEGF10):c.-19+8702del	MEGF10	Deletion (intron variant)	not provided	GBenign
Select item 1295222	NM_001256545.2(MEGF10):c.-19+8919G>C	MEGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669208	NM_001256545.2(MEGF10):c.-19+8927A>T	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384858	NM_001256545.2(MEGF10):c.-19+8933A>G	MEGF10	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385504	NM_001256545.2(MEGF10):c.-19+8943A>G	MEGF10	Single nucleotide variant (5 prime UTR variant +1 more)	MEGF10-related myopathy +1 more	GBenign/Likely benign
Select item 388583	NM_001256545.2(MEGF10):c.-19+8977C>T	MEGF10	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 904035	NM_001256545.2(MEGF10):c.-19+8996T>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GUncertain significance
Select item 672379	NM_001256545.2(MEGF10):c.-18-179A>G	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188266	NM_001256545.2(MEGF10):c.-18-12dup	MEGF10	Duplication (intron variant)	not provided	GLikely benign
Select item 350634	NM_001256545.2(MEGF10):c.-18-11C>T	MEGF10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384416	NM_001256545.2(MEGF10):c.-7G>A	MEGF10	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2129496	NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)	MEGF10 (M1I)	Single nucleotide variant (missense variant +1 more)	MEGF10-related myopathy	GUncertain significance
Select item 3294093	NM_001256545.2(MEGF10):c.4G>A (p.Val2Ile)	MEGF10 (V2I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739012	NM_001256545.2(MEGF10):c.15G>A (p.Leu5=)	MEGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623086	NM_001256545.2(MEGF10):c.19T>C (p.Ser7Pro)	MEGF10 (S7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1161564	NM_001256545.2(MEGF10):c.42A>G (p.Leu14=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 539961	NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)	MEGF10 (C17Y)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1673668	NM_001256545.2(MEGF10):c.51C>T (p.Cys17=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 379372	NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr)	MEGF10 (I20T)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1580656	NM_001256545.2(MEGF10):c.66A>G (p.Thr22=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2122164	NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)	MEGF10 (A23E)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 750525	NM_001256545.2(MEGF10):c.81T>C (p.Asn27=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 1397791	NM_001256545.2(MEGF10):c.88G>C (p.Asp30His)	MEGF10 (D30H)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 1105949	NM_001256545.2(MEGF10):c.90C>T (p.Asp30=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2019540	NM_001256545.2(MEGF10):c.99G>T (p.Val33=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 1094109	NM_001256545.2(MEGF10):c.99G>A (p.Val33=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 579779	NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr)	MEGF10 (S39T)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 262061	NM_001256545.2(MEGF10):c.116+10T>C	MEGF10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 384875	NM_001256545.2(MEGF10):c.116+12G>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy +2 more	GLikely benign
Select item 2171941	NM_001256545.2(MEGF10):c.116+16G>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2157743	NM_001256545.2(MEGF10):c.116+20C>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 672380	NM_001256545.2(MEGF10):c.116+152G>A	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683157	NM_001256545.2(MEGF10):c.117-199A>G	MEGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189709	NM_001256545.2(MEGF10):c.117-172C>T	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 904813	NM_001256545.2(MEGF10):c.117-13C>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GUncertain significance
Select item 2757239	NM_001256545.2(MEGF10):c.117-12A>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2773268	NM_001256545.2(MEGF10):c.117-9del	MEGF10	Deletion (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 1555008	NM_001256545.2(MEGF10):c.117-8C>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 350635	NM_001256545.2(MEGF10):c.117-5_117-4insC	MEGF10	Insertion (intron variant)	MEGF10-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1391391	NM_001256545.2(MEGF10):c.117-3C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GUncertain significance
Select item 513658	NM_001256545.2(MEGF10):c.120C>T (p.Tyr40=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy +1 more	GLikely benign
Select item 3012468	NM_001256545.2(MEGF10):c.129T>C (p.Thr43=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2443928	NM_001256545.2(MEGF10):c.131_132del (p.Val44fs)	MEGF10 (V44fs)	Microsatellite (frameshift variant)	MEGF10-related myopathy	GPathogenic
Select item 290664	NM_001256545.2(MEGF10):c.130G>A (p.Val44Met)	MEGF10 (V44M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067226	NM_001256545.2(MEGF10):c.147A>G (p.Pro49=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2161870	NM_001256545.2(MEGF10):c.149A>G (p.His50Arg)	MEGF10 (H50R)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 262062	NM_001256545.2(MEGF10):c.156T>C (p.Phe52=)	MEGF10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2167071	NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)	MEGF10 (D53Y)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 853119	NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys)	MEGF10 (Q54K)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 1999399	NM_001256545.2(MEGF10):c.165T>A (p.Ile55=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3009691	NM_001256545.2(MEGF10):c.168C>T (p.Tyr56=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 1601970	NM_001256545.2(MEGF10):c.171C>T (p.Tyr57=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2038349	NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)	MEGF10 (T58M)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 790220	NM_001256545.2(MEGF10):c.174G>T (p.Thr58=)	MEGF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 262064	NM_001256545.2(MEGF10):c.174G>A (p.Thr58=)	MEGF10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1568233	NM_001256545.2(MEGF10):c.183T>C (p.Thr61=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2016586	NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)	MEGF10 (D62G)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 1716946	NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)	MEGF10 (N65K)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 1979572	NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)	MEGF10 (W66L)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 643447	NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)	MEGF10 (W66*)	Indel (nonsense)	MEGF10-related myopathy	GPathogenic
Select item 855665	NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met)	MEGF10 (T70M)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 706037	NM_001256545.2(MEGF10):c.210G>A (p.Thr70=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 30967	NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)	MEGF10 (R71W)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 350636	NM_001256545.2(MEGF10):c.212G>A (p.Arg71Gln)	MEGF10 (R71Q)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 421002	NM_001256545.2(MEGF10):c.217dup (p.Arg73fs)	MEGF10 (R73fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 968557	NM_001256545.2(MEGF10):c.218+5T>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GUncertain significance
Select item 2114702	NM_001256545.2(MEGF10):c.218+8A>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2141234	NM_001256545.2(MEGF10):c.218+11C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2723308	NM_001256545.2(MEGF10):c.218+16G>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 262070	NM_001256545.2(MEGF10):c.218+17C>G	MEGF10	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1218528	NM_001256545.2(MEGF10):c.218+42G>A	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683158	NM_001256545.2(MEGF10):c.218+155G>A	MEGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175416	NM_001256545.2(MEGF10):c.218+188G>C	MEGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673634	NM_001256545.2(MEGF10):c.219-333GA[3]	MEGF10	Microsatellite (intron variant)	not provided	GBenign
Select item 1208374	NM_001256545.2(MEGF10):c.219-30G>A	MEGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860940	NM_001256545.2(MEGF10):c.219-18_219-14del	MEGF10	Deletion (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 1597998	NM_001256545.2(MEGF10):c.219-11C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 262071	NM_001256545.2(MEGF10):c.219-7T>C	MEGF10	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2055906	NM_001256545.2(MEGF10):c.219-4A>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 1502700	NM_001256545.2(MEGF10):c.219-3T>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GUncertain significance
Select item 805005	NM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys)	MEGF10 (Y76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504350	NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp)	MEGF10 (R77W)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 1070845	NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter)	MEGF10 (Y80*)	Single nucleotide variant (nonsense)	MEGF10-related myopathy	GPathogenic
Select item 2173107	NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)	MEGF10 (R81*)	Single nucleotide variant (nonsense)	MEGF10-related myopathy	GPathogenic
Select item 2655669	NM_001256545.2(MEGF10):c.249G>A (p.Gly83=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy +1 more	GLikely benign
Select item 350637	NM_001256545.2(MEGF10):c.259A>G (p.Met87Val)	MEGF10 (M87V)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +2 more	GUncertain significance
Select item 539966	NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser)	MEGF10 (R89S)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance

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