"PreventionGenetics, part of Exact Sciences"[submitter] AND "KRT83"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309496	NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp)	KRT83 (G471D)	Single nucleotide variant (missense variant)	KRT83-related disorder +2 more	GBenign
Select item 3057875	NM_002282.3(KRT83):c.1380C>T (p.Ala460=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related disorder	GLikely benign
Select item 3047656	NM_002282.3(KRT83):c.1362G>A (p.Thr454=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related disorder	GLikely benign
Select item 309500	NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)	KRT83 (C423S)	Single nucleotide variant (missense variant)	KRT83-related disorder +2 more	GBenign/Likely benign
Select item 3051512	NM_002282.3(KRT83):c.1060G>A (p.Ala354Thr)	KRT83 (A354T)	Single nucleotide variant (missense variant)	KRT83-related disorder	GBenign
Select item 883999	NM_002282.3(KRT83):c.945G>A (p.Arg315=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 2170529	NM_002282.3(KRT83):c.915+8G>T	KRT83	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 309526	NM_002282.3(KRT83):c.666C>A (p.Cys222Ter)	KRT83 (C222*)	Single nucleotide variant (nonsense)	KRT83-related disorder +2 more	GBenign/Likely benign
Select item 309537	NM_002282.3(KRT83):c.445C>T (p.Arg149Cys)	KRT83 (R149C)	Single nucleotide variant (missense variant)	KRT83-related disorder +2 more	GBenign
Select item 3043349	NM_002282.3(KRT83):c.385-9G>C	KRT83	Single nucleotide variant (intron variant)	KRT83-related disorder	GLikely benign
Select item 3047354	NM_002282.3(KRT83):c.114C>T (p.Arg38=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related disorder	GLikely benign