ClinVar for MedGen (Select 1782465) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683907	NM_001267052.2(UNC45B):c.2293G>A (p.Glu765Lys)	UNC45B (E686K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11	GUncertain significance
Select item 2441785	NM_001267052.2(UNC45B):c.73G>A (p.Ala25Thr)	UNC45B (A25T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11	GUncertain significance
Select item 1220664	NM_001267052.2(UNC45B):c.808+39G>A	UNC45B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 996756	NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg)	UNC45B (C514R)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 11	GPathogenic
Select item 996755	NM_001267052.2(UNC45B):c.2255+5G>C	UNC45B	Single nucleotide variant (intron variant)	Myofibrillar myopathy 11	GLikely pathogenic
Select item 996754	NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)	UNC45B (R778W +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11	GLikely pathogenic
Select item 996753	NM_001267052.2(UNC45B):c.1207T>C (p.Ser403Pro)	UNC45B (S403P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11	GPathogenic
Select item 834072	NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)	UNC45B (R673Q +2 more)	Single nucleotide variant (missense variant)	UNC45B-related disorder	GPathogenic

ClinVar