"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7501	NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	KRT81, KRT86 (E413K)	Single nucleotide variant (missense variant +1 more)	MONILETHRIX 2	GPathogenic
Select item 7502	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	KRT81, KRT86 (E402K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 66545	NM_002281.4(KRT81):c.735+4C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	Monilethrix +1 more	GBenign
Select item 66547	NM_001320198.2(KRT86):c.197G>A (p.Arg66His)	KRT86 (R66H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 66548	NM_001320198.2(KRT86):c.340A>C (p.Asn114His)	KRT81, KRT86 (N114H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7612	NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	KRT86 (N114D)	Single nucleotide variant (missense variant)	Monilethrix	GPathogenic
Select item 66549	NM_001320198.2(KRT86):c.348G>A (p.Arg116=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7614	NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	KRT86 (A118E)	Single nucleotide variant (missense variant)	Monilethrix	GPathogenic
Select item 66550	NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro)	KRT86 (Q139P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 7613	NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	KRT86 (E402Q)	Single nucleotide variant (missense variant)	Monilethrix	GPathogenic
Select item 7611	NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	KRT86 (E402K)	Single nucleotide variant (missense variant)	Monilethrix	GPathogenic
Select item 7609	NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	KRT86 (E413K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7610	NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	KRT86 (E413D)	Single nucleotide variant (missense variant)	Monilethrix	GPathogenic