"PreventionGenetics, part of Exact Sciences"[submitter] AND "CKAP2L"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2883006	NM_001393655.1(NT5DC4):c.*119G>T	CKAP2L, NT5DC4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3057872	NM_152515.5(CKAP2L):c.1759-14TTCC[4]	CKAP2L, NT5DC4	Microsatellite (3 prime UTR variant +1 more)	CKAP2L-related disorder	GLikely benign
Select item 3050867	NM_152515.5(CKAP2L):c.1210A>G (p.Asn404Asp)	CKAP2L (N239D +1 more)	Single nucleotide variant (missense variant)	CKAP2L-related disorder	GBenign
Select item 781604	NM_152515.5(CKAP2L):c.922A>G (p.Ser308Gly)	CKAP2L (S308G +1 more)	Single nucleotide variant (missense variant)	CKAP2L-related disorder +1 more	GBenign/Likely benign
Select item 3054735	NM_152515.5(CKAP2L):c.637T>C (p.Ser213Pro)	CKAP2L (S213P +1 more)	Single nucleotide variant (missense variant)	CKAP2L-related disorder	GLikely benign
Select item 1617789	NM_152515.5(CKAP2L):c.537T>C (p.Phe179=)	CKAP2L	Single nucleotide variant (synonymous variant)	CKAP2L-related disorder +1 more	GBenign/Likely benign
Select item 727231	NM_152515.5(CKAP2L):c.401T>G (p.Leu134Arg)	CKAP2L (L134R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 741301	NM_152515.5(CKAP2L):c.384G>A (p.Ser128=)	CKAP2L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1463047	NM_152515.5(CKAP2L):c.183C>T (p.Thr61=)	CKAP2L	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1280816	NM_152515.5(CKAP2L):c.55C>T (p.Leu19Phe)	CKAP2L (L19F)	Single nucleotide variant (5 prime UTR variant +2 more)	CKAP2L-related disorder +1 more	GBenign