"Blueprint Genetics"[submitter] AND "TMEM43"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180542	NM_024334.3(TMEM43):c.644A>C (p.His215Pro)	TMEM43 (H215P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 180543	NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)	TMEM43 (R220C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 180544	NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)	TMEM43 (R266W)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222840	NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)	TMEM43 (R268L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 180545	NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)	TMEM43 (G289R)	Single nucleotide variant (missense variant)	Auditory neuropathy, autosomal dominant 3 +4 more	GUncertain significance
Select item 180546	NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)	TMEM43 (F353L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 734	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43 (S358L)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic

ClinVar