"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TMEM43"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 466415	NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)	TMEM43 (D75N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +2 more	GUncertain significance
Select item 46151	NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)	TMEM43 (S209A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GUncertain significance
Select item 202118	NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)	TMEM43 (R221C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373690	NM_024334.3(TMEM43):c.705+5G>T	TMEM43	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 202119	NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	TMEM43 (R240C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GConflicting classifications of pathogenicity
Select item 919033	NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)	TMEM43 (F320C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance

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