ClinVar for MedGen (Select 349226) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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
Select item 1526151	NM_005807.6(PRG4):c.301G>T (p.Glu101Ter)	PRG4 (E101* +1 more)	Single nucleotide variant (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1333348	NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs)	PRG4 (T831fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1327443	NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala)	PRG4 (T470A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1327442	NM_005807.6(PRG4):c.-30-30T>A	PRG4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 1013543	NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter)	PRG4 (R1032* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992974	NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)	PRG4	Microsatellite (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 987918	NM_005807.6(PRG4):c.1320dup (p.Lys441fs)	PRG4 (K307fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 976225	NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs)	PRG4 (A1112fs +4 more)	Insertion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
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 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 801585	NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)	PRG4 (K1160* +4 more)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 800914	NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs)	PRG4 (K1006fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
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 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 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 599362	NC_000001.10:g.(?_186265850)_(186266785_?)del	PRG4	Deletion	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 518311	NM_005807.6(PRG4):c.3138A>G (p.Pro1046=)	PRG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 518310	NM_005807.6(PRG4):c.1737T>C (p.Thr579=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 518309	NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)	PRG4 (R180W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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
Select item 5651	NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs)	PRG4 (K802fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41