"RYK-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2363166	NM_002958.4(RYK):c.973A>C (p.Ile325Leu)	RYK (I328L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3055004	NM_002958.4(RYK):c.939T>C (p.Leu313=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related disorder	GLikely benign
Select item 2632542	NM_002958.4(RYK):c.817C>T (p.Leu273=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related disorder	GUncertain significance
Select item 3048026	NM_002958.4(RYK):c.575A>G (p.Lys192Arg)	RYK (K192R)	Single nucleotide variant (missense variant)	RYK-related disorder	GLikely benign
Select item 3034688	NM_002958.4(RYK):c.149C>T (p.Pro50Leu)	RYK (P50L)	Single nucleotide variant (missense variant)	RYK-related disorder	GLikely benign
Select item 3048012	NM_002958.4(RYK):c.147C>T (p.Ala49=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related disorder	GBenign
Select item 780896	NM_002958.4(RYK):c.71CGC[7] (p.Pro27_Pro28dup)	RYK	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 218478	NM_002958.4(RYK):c.10dup (p.Ala4fs)	RYK (A4fs)	Duplication (frameshift variant)	not specified +1 more	GBenign

ClinVar