C3150912[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193474	NM_033100.4(CDHR1):c.1A>G (p.Met1Val)	CDHR1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1213967	NM_033100.4(CDHR1):c.10del (p.Cys4fs)	CDHR1 (C4fs)	Deletion (frameshift variant)	Cone-rod dystrophy 15	GLikely pathogenic
Select item 18416	NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	CDHR1 (N176fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 301224	NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	CDHR1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 802595	NM_033100.4(CDHR1):c.862+4A>C	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15 +1 more	GUncertain significance
Select item 1297147	NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)	CDHR1 (Q310*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15 +1 more	GLikely pathogenic
Select item 194793	NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	CDHR1 (I841fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity

ClinVar