"Dept Of Ophthalmology, Nagoya University"[submitter] AND "LOC13006550 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028536	NM_001276389.2(KIZ):c.14C>G (p.Ser5Cys)	KIZ, LOC130065507 (S5C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028537	NM_001276389.2(KIZ):c.27C>T (p.Thr9=)	KIZ, LOC130065507	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028538	NM_001276389.2(KIZ):c.39dup (p.Pro14fs)	KIZ, LOC130065507 (P14fs)	Duplication (frameshift variant)	Retinal dystrophy	GBenign
Select item 3028539	NM_018474.6(KIZ):c.30C>A (p.Pro10=)	KIZ, LOC130065507 (P37T)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 778878	NM_018474.6(KIZ):c.48C>T (p.Tyr16=)	KIZ, LOC130065507	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3028540	NM_018474.6(KIZ):c.62_65del (p.Gly21fs)	KIZ, LOC130065507 (G21fs +1 more)	Deletion (5 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic

ClinVar