"PreventionGenetics, part of Exact Sciences"[submitter] AND "KY"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044565	NM_178554.6(KY):c.1773C>T (p.Ala591=)	CEP63, KY	Single nucleotide variant (synonymous variant)	KY-related disorder	GLikely benign
Select item 739169	NM_178554.6(KY):c.1596G>A (p.Lys532=)	CEP63, KY	Single nucleotide variant (synonymous variant)	KY-related disorder +1 more	GBenign
Select item 709140	NM_178554.6(KY):c.1395G>A (p.Lys465=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	KY-related disorder +1 more	GLikely benign
Select item 3050371	NM_178554.6(KY):c.1090+188G>A	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 3039560	NM_178554.6(KY):c.1090+107C>T	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 731323	NM_178554.6(KY):c.988C>T (p.Pro330Ser)	CEP63, KY (P330S +3 more)	Single nucleotide variant (missense variant)	KY-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 738716	NM_178554.6(KY):c.969C>T (p.Asn323=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 736271	NM_178554.6(KY):c.861C>T (p.Ser287=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049936	NM_178554.6(KY):c.710+4C>T	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 735946	NM_178554.6(KY):c.561C>T (p.Arg187=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1013229	NM_178554.6(KY):c.557T>C (p.Val186Ala)	CEP63, KY (V144A +3 more)	Single nucleotide variant (missense variant)	KY-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3040714	NM_178554.6(KY):c.400+10A>C	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3041948	NM_178554.6(KY):c.337+22A>G	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3045499	NM_178554.6(KY):c.263-3T>C	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign