"GeneDx"[submitter] AND "PRG4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 1722860	NM_005807.6(PRG4):c.403C>G (p.Arg135Gly)	PRG4 (R135G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1292012	NM_005807.6(PRG4):c.867TAC[1] (p.Thr292del)	PRG4 (T158del +4 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1218909	NM_005807.6(PRG4):c.1887_1891delinsTGAGAAGCCCGCACCCACCACCCCTGAGG (p.Lys631_Leu632insProAlaProThrThrProGluGlu)	PRG4	Indel (inframe_insertion)	not provided	GLikely benign
Select item 974887	NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)	PRG4 (V1045fs +4 more)	Microsatellite (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

ClinVar