"GeneDx"[submitter] AND "LOC129937591"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 1300702	NM_003571.4(BFSP2):c.892-17G>C	LOC129937591, BFSP2 +1 more	Single nucleotide variant (intron variant)	Cataract 12 multiple types +1 more	GBenign/Likely benign
Select item 1192358	NM_003571.4(BFSP2):c.1023+31T>C	BFSP2, BFSP2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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