MYF6[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 57587	GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1	LIN7A, LINC01490 +11 more	Copy number loss	See cases	GPathogenic
Select item 57588	GRCh38/hg38 12q21.31(chr12:80530108-80719071)x1	LOC121838556, LOC124629419 +5 more	Copy number loss	See cases	GPathogenic
Select item 57589	GRCh38/hg38 12q21.31(chr12:80538484-80798086)x1	LIN7A, LINC01490 +8 more	Copy number loss	See cases	GPathogenic
Select item 1295858	NC_000012.12:g.80707444T>C	MYF6	Single nucleotide variant	not provided	GBenign
Select item 1235757	NC_000012.12:g.80707472C>T	MYF6	Single nucleotide variant	not provided	GBenign
Select item 369028	NM_002469.2(MYF6):c.-101G>A	MYF6	Single nucleotide variant	Centronuclear Myopathy, Dominant +1 more	GLikely benign
Select item 1429562	NM_002469.3(MYF6):c.17T>G (p.Phe6Cys)	MYF6 (F6C)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472756	NM_002469.3(MYF6):c.46G>A (p.Asp16Asn)	MYF6 (D16N)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 310505	NM_002469.3(MYF6):c.50G>A (p.Gly17Glu)	MYF6 (G17E)	Single nucleotide variant (missense variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 658350	NM_002469.3(MYF6):c.79G>A (p.Val27Met)	MYF6 (V27M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3297312	NM_002469.3(MYF6):c.88G>A (p.Gly30Ser)	MYF6 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1434904	NM_002469.3(MYF6):c.91T>C (p.Ser31Pro)	MYF6 (S31P)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 3336539	NM_002469.3(MYF6):c.94C>T (p.Pro32Ser)	MYF6 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1400907	NM_002469.3(MYF6):c.104C>T (p.Pro35Leu)	MYF6 (P35L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 258666	NM_002469.3(MYF6):c.135G>A (p.Gln45=)	MYF6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1933766	NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)	MYF6 (P49A)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 310506	NM_002469.3(MYF6):c.172G>A (p.Gly58Arg)	MYF6 (G58R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 840187	NM_002469.3(MYF6):c.176A>T (p.Glu59Val)	MYF6 (E59V)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 940107	NM_002469.3(MYF6):c.183T>G (p.His61Gln)	MYF6 (H61Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472751	NM_002469.3(MYF6):c.184G>A (p.Val62Ile)	MYF6 (V62I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1034631	NM_002469.3(MYF6):c.193C>T (p.Pro65Ser)	MYF6 (P65S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 853679	NM_002469.3(MYF6):c.220C>T (p.Pro74Ser)	MYF6 (P74S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 1414913	NM_002469.3(MYF6):c.273dup (p.Thr92fs)	MYF6 (T92fs)	Duplication (frameshift variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472752	NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)	MYF6 (A90D)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GBenign/Likely benign
Select item 1039100	NM_002469.3(MYF6):c.280C>T (p.Arg94Trp)	MYF6 (R94W)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 310507	NM_002469.3(MYF6):c.281G>A (p.Arg94Gln)	MYF6 (R94Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 943810	NM_002469.3(MYF6):c.288A>T (p.Lys96Asn)	MYF6 (K96N)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1170677	NM_002469.3(MYF6):c.292G>T (p.Ala98Ser)	MYF6 (A98S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GBenign
Select item 758194	NM_002469.3(MYF6):c.294C>T (p.Ala98=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 472753	NM_002469.3(MYF6):c.331G>C (p.Glu111Gln)	MYF6 (E111Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 14153	NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)	MYF6 (A112S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1684928	NM_002469.3(MYF6):c.340G>T (p.Glu114Ter)	MYF6 (E114*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 472754	NM_002469.3(MYF6):c.347T>C (p.Leu116Pro)	MYF6 (L116P)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 837609	NM_002469.3(MYF6):c.352C>G (p.Arg118Gly)	MYF6 (R118G)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 472755	NM_002469.3(MYF6):c.352C>A (p.Arg118=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GBenign
Select item 718835	NM_002469.3(MYF6):c.355C>A (p.Arg119=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 421670	NM_002469.3(MYF6):c.356G>A (p.Arg119Gln)	MYF6 (R119Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 539973	NM_002469.3(MYF6):c.369C>T (p.Asn123=)	MYF6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 835823	NM_002469.3(MYF6):c.459G>C (p.Gln153His)	MYF6 (Q153H)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1080296	NM_002469.3(MYF6):c.478C>T (p.Leu160=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 2240777	NM_002469.3(MYF6):c.481G>T (p.Gly161Trp)	MYF6 (G161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1038226	NM_002469.3(MYF6):c.511C>G (p.Gln171Glu)	MYF6 (Q171E)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 1060278	NM_002469.3(MYF6):c.520-3C>T	MYF6	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 2689486	NM_002469.3(MYF6):c.520-1G>T	MYF6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 435911	NM_002469.3(MYF6):c.528T>C (p.Gly176=)	MYF6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 472757	NM_002469.3(MYF6):c.544A>C (p.Thr182Pro)	MYF6 (T182P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 566144	NM_002469.3(MYF6):c.559T>A (p.Trp187Arg)	MYF6 (W187R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 472758	NM_002469.3(MYF6):c.575A>C (p.Asp192Ala)	MYF6 (D192A)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 578567	NM_002469.3(MYF6):c.587G>A (p.Gly196Glu)	MYF6 (G196E)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 2643198	NM_002469.3(MYF6):c.588G>A (p.Gly196=)	MYF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1011466	NM_002469.3(MYF6):c.623T>C (p.Ile208Thr)	MYF6 (I208T)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 310508	NM_002469.3(MYF6):c.634G>A (p.Ala212Thr)	MYF6 (A212T)	Single nucleotide variant (missense variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 3155677	NM_002469.3(MYF6):c.635C>G (p.Ala212Gly)	MYF6 (A212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1514876	NM_002469.3(MYF6):c.649C>T (p.Arg217Ter)	MYF6 (R217*)	Single nucleotide variant (nonsense)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 2689485	NM_002469.3(MYF6):c.668T>C (p.Val223Ala)	MYF6 (V223A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043663	NM_002469.3(MYF6):c.683C>T (p.Ser228Leu)	MYF6 (S228L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 939601	NM_002469.3(MYF6):c.691C>G (p.Arg231Gly)	MYF6 (R231G)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 310509	NM_002469.3(MYF6):c.709G>C (p.Glu237Gln)	MYF6 (E237Q)	Single nucleotide variant (missense variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 258665	NM_002469.3(MYF6):c.*19C>A	MYF6	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 310510	NM_002469.3(MYF6):c.*152C>A	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant +1 more	GBenign/Likely benign
Select item 310511	NM_002469.3(MYF6):c.*182T>C	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant +1 more	GBenign
Select item 310512	NM_002469.3(MYF6):c.*185T>G	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 310513	NM_002469.3(MYF6):c.*332G>T	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 310515	NM_002469.3(MYF6):c.*346A>G	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant +1 more	GLikely benign
Select item 310514	NM_002469.3(MYF6):c.*346A>C	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 310516	NM_002469.3(MYF6):c.*405A>G	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant +1 more	GBenign
Select item 310517	NM_002469.3(MYF6):c.*411T>G	MYF6	Single nucleotide variant (3 prime UTR variant)	Centronuclear Myopathy, Dominant	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063246	GRCh37/hg19 12q21.31(chr12:80696867-81266911)x1	LIN7A, MYF5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1527717	GRCh37/hg19 12q21.31(chr12:80902982-81207393)	LIN7A, MYF5 +2 more	Copy number loss	not specified	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 583793	NC_000012.11:g.(?_80128594)_(81102759_?)del	MYF6, OTOGL +2 more	Deletion	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 443485	GRCh37/hg19 12q21.31(chr12:80622857-81449637)x3	LIN7A, MYF5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253718	GRCh37/hg19 12q21.31(chr12:80945046-81113470)x1	MYF6, PTPRQ +1 more	Copy number loss	See cases	GUncertain significance
Select item 221491	GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3	ACSS3, LIN7A +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 86