Related gene-specific medical variations for Gene (Select 131377) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068281	NM_152393.4(KLHL40):c.1755del	KLHL40	Deletion (splice acceptor variant)	Nemaline myopathy 8	GUncertain significance
Select item 2689319	NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)	KLHL40 (D154N)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2689318	NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)	KLHL40 (A211V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2433165	NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)	KLHL40 (G443S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2433164	NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)	KLHL40	Deletion (inframe_deletion)	Nemaline myopathy 8	GUncertain significance
Select item 804436	NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter)	KLHL40 (E9*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GLikely pathogenic

ClinVar