C1859690[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684672	NM_005807.6(PRG4):c.849del (p.Val284fs)	PRG4 (V191fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684664	NM_005807.6(PRG4):c.1194del (p.Thr399fs)	PRG4 (T265fs +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 684669	NM_005807.6(PRG4):c.1911del (p.Glu638fs)	PRG4 (E504fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684668	NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter)	PRG4 (K698* +4 more)	Single nucleotide variant (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684671	NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs)	PRG4 (K904fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684666	NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs)	PRG4 (K1050fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684665	NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del)	PRG4, TPR	Deletion (inframe_deletion +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684667	NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter)	PRG4, TPR (Y1326* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic