"GeneDx"[submitter] AND "REEP2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1326188	NC_000005.10:g.138438961C>A	LOC129994740, REEP2	Single nucleotide variant	not provided	GLikely benign
Select item 1235420	NM_001271803.2(REEP2):c.32+152C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329742	NM_001271803.2(REEP2):c.33-265G>A	REEP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318089	NM_001271803.2(REEP2):c.33-65G>A	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1316866	NM_001271803.2(REEP2):c.105+49G>A	REEP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295465	NM_001271803.2(REEP2):c.106-143C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226225	NM_001271803.2(REEP2):c.182+119A>G	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243673	NM_001271803.2(REEP2):c.304-107T>C	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182586	NM_001271803.2(REEP2):c.304-75C>A	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295717	NM_001271803.2(REEP2):c.417+75C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1584570	NM_001271803.2(REEP2):c.696+13G>A	REEP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1326624	NM_001271803.2(REEP2):c.*13C>T	REEP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign