C1858806[trait identifier] AND "Department of Human Genetics, Hannover - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1435338	NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)	ABCA4 (T2061fs)	Deletion (frameshift variant)	Cone-rod dystrophy 3 +2 more	GPathogenic
Select item 3255560	NM_000350.3(ABCA4):c.2894A>T (p.Asn965Ile)	ABCA4 (N965I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3	GLikely pathogenic