C3489532[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 41 +4 more	GPathogenic/Likely pathogenic
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579248	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1	CRX, LINC01595 +3 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579249	GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1	CRX	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 99604	NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	CRX (G122D)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign

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