Related gene-specific medical variations for Gene (Select 10216) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362579	NM_005807.6(PRG4):c.3905_3909del (p.Arg1302fs)	PRG4, TPR (R1168fs +4 more)	Deletion (frameshift variant +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 3218629	NM_005807.6(PRG4):c.3964C>T (p.Pro1322Ser)	PRG4, TPR (P1281S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062118	NM_005807.6(PRG4):c.23_26dup (p.Leu11fs)	PRG4 (L11fs)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 3057176	NM_005807.6(PRG4):c.3813T>C (p.Tyr1271=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	PRG4-related disorder	GLikely benign
Select item 3037358	NM_005807.6(PRG4):c.3887C>T (p.Thr1296Met)	PRG4, TPR (T1162M +4 more)	Single nucleotide variant (missense variant +1 more)	PRG4-related disorder	GBenign
Select item 2639665	NM_005807.6(PRG4):c.4089C>T (p.Asp1363=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627391	NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)	PRG4, TPR (W1209* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 2479986	NM_005807.6(PRG4):c.3914A>G (p.Glu1305Gly)	PRG4, TPR (E1212G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435241	NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)	PRG4 (F103S +1 more)	Single nucleotide variant (missense variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GUncertain significance
Select item 2393224	NM_005807.6(PRG4):c.4015G>A (p.Val1339Met)	PRG4, TPR (V1339M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389237	NM_005807.6(PRG4):c.4034G>T (p.Gly1345Val)	PRG4, TPR (G1211V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381007	NM_005807.6(PRG4):c.4127A>G (p.Tyr1376Cys)	PRG4, TPR (Y1283C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2127928	NM_005807.6(PRG4):c.3850del (p.Arg1284fs)	PRG4, TPR (R1241fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1323495	NM_005807.6(PRG4):c.3486dup (p.Val1163fs)	PRG4 (V1029fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1323494	NM_005807.6(PRG4):c.4064C>G (p.Ser1355Ter)	PRG4, TPR (S1312* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1176528	NM_005807.6(PRG4):c.3848del (p.Gly1283fs)	TPR, PRG4 (G1149fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1013544	NM_005807.6(PRG4):c.4013_4014del (p.Lys1338fs)	PRG4, TPR (K1204fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 974881	NM_005807.6(PRG4):c.2247del (p.Ala750fs)	PRG4 (A616fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GConflicting classifications of pathogenicity
Select item 973566	NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs)	PRG4 (T1021fs +4 more)	Microsatellite (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 781667	NM_003292.3(TPR):c.*1711A>G	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 732422	NM_003292.3(TPR):c.*1087G>T	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 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
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 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 5656	PRG4, IVS6, 41-BP INS	PRG4	Insertion	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 5655	NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter)	PRG4, TPR (S1304* +4 more)	Indel (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 5653	PRG4, 2-BP DEL, NT3023	PRG4	Deletion	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic

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Items: 32