"PreventionGenetics, part of Exact Sciences"[submitter] AND "CRYL1"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049762	NM_015974.3(CRYL1):c.795T>A (p.Thr265=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GLikely benign
Select item 2269369	NM_015974.3(CRYL1):c.757G>A (p.Asp253Asn)	CRYL1 (D199N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3043106	NM_015974.3(CRYL1):c.400G>A (p.Gly134Ser)	CRYL1 (G134S)	Single nucleotide variant (missense variant +1 more)	CRYL1-related disorder	GBenign
Select item 3039677	NM_015974.3(CRYL1):c.231T>C (p.Gly77=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GLikely benign
Select item 3037350	NM_015974.3(CRYL1):c.72G>C (p.Leu24=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GBenign

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