"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "REPS1"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1599842	NM_001286611.2(REPS1):c.2323-4del	REPS1	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1634487	NM_001286611.2(REPS1):c.1620G>A (p.Ser540=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3025105	NM_001286611.2(REPS1):c.393C>T (p.Pro131=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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