"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438183	NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)	C1QTNF5, MFRP (S190W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 438182	NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)	C1QTNF5, MFRP (P186S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 438224	NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)	C1QTNF5, MFRP (Q319*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 438245	NC_000011.10:g.119346419_119352600del	C1QTNF5, MFRP	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic

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