"KLHL41-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474866	NM_006063.3(KLHL41):c.15G>A (p.Arg5=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 474869	NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr)	KLHL41 (I66T)	Single nucleotide variant (missense variant)	KLHL41-related disorder +2 more	GBenign/Likely benign
Select item 474871	NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp)	KLHL41 (G133D)	Single nucleotide variant (missense variant)	KLHL41-related disorder +2 more	GBenign/Likely benign
Select item 541710	NM_006063.3(KLHL41):c.519A>G (p.Gln173=)	KLHL41	Single nucleotide variant (synonymous variant)	KLHL41-related disorder +2 more	GBenign/Likely benign
Select item 1097979	NM_006063.3(KLHL41):c.777C>T (p.Phe259=)	KLHL41	Single nucleotide variant (synonymous variant)	KLHL41-related disorder +1 more	GLikely benign
Select item 474876	NM_006063.3(KLHL41):c.832G>A (p.Val278Met)	KLHL41 (V278M)	Single nucleotide variant (missense variant)	KLHL41-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1324628	NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)	KLHL41 (G473fs)	Duplication (frameshift variant)	KLHL41-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1145398	NM_006063.3(KLHL41):c.1756C>T (p.Arg586Cys)	KLHL41 (R586C)	Single nucleotide variant (missense variant)	KLHL41-related disorder +1 more	GLikely benign

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