Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Glu931del (p.E931del)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Lys884del (p.K884del) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Lys847del (p.K847del) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu931del (p.E931del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Lys884del (p.K884del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Lys847del (p.K847del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Thr1854Met (p.T1854M) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala1777Thr (p.A1777T) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Leu1769Met (p.L1769M) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Cys1748Tyr (p.C1748Y) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Leu1414Met (p.L1414M) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala1379Thr (p.A1379T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn1327= (p.N1327=) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Asn1327Lys (p.N1327K) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu1116Lys (p.E1116K) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Ala1113Thr (p.A1113T) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Gly1101Ser (p.G1101S) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg1053Gln (p.R1053Q) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg1045Leu (p.R1045L) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1045His (p.R1045H) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu930Gln (p.E930Q) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Glu930Lys (p.E930K) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu924Lys (p.E924K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu915Pro (p.L915P) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Leu908Val (p.L908V) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Asp906Gly (p.D906G) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg870His (p.R870H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg870Cys (p.R870C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Met849Thr (p.M849T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala843Thr (p.A843T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe834Leu (p.F834L) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala797Thr (p.A797T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg787His (p.R787H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg787Cys (p.R787C) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Gly741Trp (p.G741W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly741Arg (p.G741R) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Gly741Arg (p.G741R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly733Val (p.G733V) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Gly733Glu (p.G733E) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Ala728Val (p.A728V) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg723Cys (p.R723C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg723Gly (p.R723G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Gln (p.R719Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Trp (p.R719W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly716Arg (p.G716R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ile702Asn (p.I702N) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg694Cys (p.R694C) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg663His (p.R663H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg663Cys (p.R663C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg652Gly (p.R652G) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val586Ala (p.V586A) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gly584Arg (p.G584R) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gly584Ser (p.G584S) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala543Thr (p.A543T) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu536Asp (p.E536D) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Glu536= (p.E536=) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Glu497Asp (p.E497D) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg453His (p.R453H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453Cys (p.R453C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453Ser (p.R453S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn444Ser (p.N444S) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Asn444Thr (p.N444T) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Val440Met (p.V440M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly425Arg (p.G425R) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg403Leu (p.R403L) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg403Gln (p.R403Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Trp (p.R403W) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Tyr386Cys (p.Y386C) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Val320Met (p.V320M) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Leu267Val (p.L267V) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Ile263Thr (p.I263T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly256Glu (p.G256E) ( ENST00000355349.4, ENST00000713769.1, ENST00000713768.1 )
MYH7 p.Arg249Gln (p.R249Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asp239Asn (p.D239N) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg169Gly (p.R169G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Lys146Asn (p.K146N) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg143Gln (p.R143Q) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Thr1854Met (p.T1854M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala1777Thr (p.A1777T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu1769Met (p.L1769M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Cys1748Tyr (p.C1748Y) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu1414Met (p.L1414M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala1379Thr (p.A1379T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn1327= (p.N1327=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn1327Lys (p.N1327K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu1116Lys (p.E1116K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala1113Thr (p.A1113T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly1101Ser (p.G1101S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1053Gln (p.R1053Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1045Leu (p.R1045L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1045His (p.R1045H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu930Gln (p.E930Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu930Lys (p.E930K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu924Lys (p.E924K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu915Pro (p.L915P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu908Val (p.L908V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asp906Gly (p.D906G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg870His (p.R870H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg870Cys (p.R870C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Met849Thr (p.M849T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala843Thr (p.A843T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe834Leu (p.F834L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala797Thr (p.A797T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg787His (p.R787H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg787Cys (p.R787C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly741Trp (p.G741W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly741Arg (p.G741R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly741Arg (p.G741R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly733Val (p.G733V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly733Glu (p.G733E) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala728Val (p.A728V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg723Cys (p.R723C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg723Gly (p.R723G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Gln (p.R719Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Trp (p.R719W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly716Arg (p.G716R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ile702Asn (p.I702N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg694Cys (p.R694C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg663His (p.R663H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg663Cys (p.R663C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg652Gly (p.R652G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val586Ala (p.V586A) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly584Arg (p.G584R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly584Ser (p.G584S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala543Thr (p.A543T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu536Asp (p.E536D) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu536= (p.E536=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu497Asp (p.E497D) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453His (p.R453H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453Cys (p.R453C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453Ser (p.R453S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn444Ser (p.N444S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn444Thr (p.N444T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val440Met (p.V440M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly425Arg (p.G425R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Leu (p.R403L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Gln (p.R403Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg403Trp (p.R403W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Tyr386Cys (p.Y386C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val320Met (p.V320M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu267Val (p.L267V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ile263Thr (p.I263T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly256Glu (p.G256E) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg249Gln (p.R249Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asp239Asn (p.D239N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg169Gly (p.R169G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Lys146Asn (p.K146N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg143Gln (p.R143Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Hypertrophic, Familial
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.252244678808606
- Year of publication
- NA
Drugs