"GeneDx"[submitter] AND "LOC129936436"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 674862	NM_006371.4(CRTAP):c.-185T>C	LOC129936436, CRTAP	Single nucleotide variant	not provided	GBenign
Select item 1203627	NC_000003.12:g.33113900A>C	CRTAP, LOC129936436	Single nucleotide variant	not provided	GLikely benign
Select item 903319	NM_006371.4(CRTAP):c.-101G>C	CRTAP, LOC129936436	Single nucleotide variant	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 509473	NM_006371.5(CRTAP):c.-45T>G	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512129	NM_006371.5(CRTAP):c.-39C>G	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 344802	NM_006371.5(CRTAP):c.-35C>T	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 3365277	NM_006371.5(CRTAP):c.-3G>A	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1070167	NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer)	CRTAP, LOC129936436	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar