"Baylor Genetics"[submitter] AND "MFRP"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209172	NM_031433.4(MFRP):c.958C>T (p.Gln320Ter)	C1QTNF5, MFRP (Q320*)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic

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