C0546264[trait identifier] AND "Genomic Research Center, Shahid Behesh - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12450	NM_152263.4(TPM3):c.503G>A (p.Arg168His)	TPM3 (R168H +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +3 more	GPathogenic
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181207	NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	MYH7 (E935V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 478212	NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)	RYR1 (R795C)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 212100	NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	RYR1 (R885H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 590574	NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)	RYR1 (R2248H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 523076	NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	LOC126862902, RYR1 (M2816V)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +2 more	GConflicting classifications of pathogenicity
Select item 548498	NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)	RYR1 (N3896I +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +3 more	GUncertain significance