MYF5[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +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 523663	NM_005593.3(MYF5):c.23_32del (p.Gln8fs)	MYF5 (Q8fs)	Deletion (frameshift variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic
Select item 1028918	NM_005593.3(MYF5):c.51C>G (p.Asp17Glu)	MYF5 (D17E)	Single nucleotide variant (missense variant)	Ophthalmoplegia, external, with rib and vertebral anomalies	GUncertain significance
Select item 3034100	NM_005593.3(MYF5):c.54C>T (p.Gly18=)	MYF5	Single nucleotide variant (synonymous variant)	MYF5-related condition	GLikely benign
Select item 2345158	NM_005593.3(MYF5):c.80A>G (p.Glu27Gly)	MYF5 (E27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485332	NM_005593.3(MYF5):c.83T>C (p.Phe28Ser)	MYF5 (F28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267542	NM_005593.3(MYF5):c.107T>A (p.Val36Glu)	MYF5 (V36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786930	NM_005593.3(MYF5):c.138G>A (p.Leu46=)	MYF5	Single nucleotide variant (synonymous variant)	MYF5-related condition +1 more	GBenign
Select item 3155611	NM_005593.3(MYF5):c.143G>A (p.Gly48Asp)	MYF5 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155615	NM_005593.3(MYF5):c.250C>G (p.Arg84Gly)	MYF5 (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523662	NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)	MYF5 (R95C)	Single nucleotide variant (missense variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic
Select item 2334611	NM_005593.3(MYF5):c.321G>C (p.Lys107Asn)	MYF5 (K107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374658	NM_005593.3(MYF5):c.340C>A (p.Pro114Thr)	MYF5 (P114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155625	NM_005593.3(MYF5):c.347A>G (p.Gln116Arg)	MYF5 (Q116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537890	NM_005593.3(MYF5):c.428A>G (p.Glu143Gly)	MYF5 (E143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155631	NM_005593.3(MYF5):c.461C>G (p.Ser154Trp)	MYF5 (S154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255248	NM_005593.3(MYF5):c.463G>C (p.Glu155Gln)	MYF5 (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041472	NM_005593.3(MYF5):c.502-3T>C	MYF5	Single nucleotide variant (intron variant)	MYF5-related condition	GLikely benign
Select item 3155635	NM_005593.3(MYF5):c.530G>T (p.Arg177Ile)	MYF5 (R177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389348	NM_005593.3(MYF5):c.560G>C (p.Cys187Ser)	MYF5 (C187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330696	NM_005593.3(MYF5):c.568G>A (p.Val190Ile)	MYF5 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237335	NM_005593.3(MYF5):c.574A>G (p.Asn192Asp)	MYF5 (N192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041246	NM_005593.3(MYF5):c.624C>A (p.Ser208=)	MYF5	Single nucleotide variant (synonymous variant)	MYF5-related condition	GLikely benign
Select item 2349456	NM_005593.3(MYF5):c.739A>G (p.Ser247Gly)	MYF5 (S247G)	Single nucleotide variant (missense variant)	not specified	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 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)	HMGA2, HNF1A +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	AGAP2, ARF3 +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: 44