"Revvity Omics, Revvity"[submitter] AND "KLHL40"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 578842	NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)	KLHL40 (G30S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	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 423768	NM_152393.4(KLHL40):c.557T>A (p.Leu186His)	KLHL40 (L186H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	GConflicting classifications of pathogenicity
Select item 2433164	NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)	KLHL40	Deletion (inframe_deletion)	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 474339	NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	KLHL40 (R311S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GConflicting classifications of pathogenicity
Select item 474324	NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)	KLHL40 (G425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 846771	NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)	KLHL40 (T506P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GPathogenic
Select item 952117	NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr)	KLHL40 (A561T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance