"Baylor Genetics"[submitter] AND "PLS3"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1483639	NM_005032.7(PLS3):c.234_237+10del	PLS3	Deletion (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1362528	NM_005032.7(PLS3):c.583-3C>A	PLS3	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 18 +1 more	GConflicting classifications of pathogenicity
Select item 625796	GRCh37/hg19 Xq23(chrX:113097589-114931342)	MIR448, PLS3 +5 more	Copy number loss	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 209215	NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del	MIR448, PLS3 +5 more	Deletion	Bone mineral density quantitative trait locus 18	GPathogenic

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