"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695913	NM_005807.6(PRG4):c.962T>A (p.Leu321Ter)	PRG4 (L187* +4 more)	Single nucleotide variant (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 2577870	NM_005807.6(PRG4):c.1134dup (p.Lys379fs)	PRG4 (K245fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2577871	NM_005807.6(PRG4):c.1699del (p.Glu567fs)	PRG4 (E433fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684670	NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)	PRG4 (P637fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1323496	NM_005807.6(PRG4):c.1935del (p.Glu646fs)	PRG4 (E512fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2577874	NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)	PRG4 (K805fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1679878	NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)	PRG4 (K1078N +4 more)	Single nucleotide variant (missense variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GUncertain significance

ClinVar