C1863634[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357840	NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr)	RIMS1 (A487T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 357844	NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)	RIMS1 (Q765R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 357846	NM_014989.7(RIMS1):c.2523A>G (p.Glu841=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign/Likely benign
Select item 357847	NM_014989.7(RIMS1):c.2670T>C (p.His890=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 194658	NM_014989.7(RIMS1):c.2699-8T>C	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911362	NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu)	RIMS1 (P417L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 357853	NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

ClinVar