Related gene-specific medical variations for Gene (Select 7175) - ClinVar

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Items: 35

	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 3328323	NM_003292.3(TPR):c.3541C>A (p.Pro1181Thr)	LOC126805954, TPR (P1181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328310	NM_003292.3(TPR):c.1901A>G (p.Asp634Gly)	LOC126805955, TPR (D634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250519	NM_003292.3(TPR):c.1979T>C (p.Ile660Thr)	LOC126805955, TPR (I660T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3181589	NM_003292.3(TPR):c.2147C>A (p.Thr716Asn)	LOC126805955, TPR (T716N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181588	NM_003292.3(TPR):c.1904A>T (p.Asp635Val)	LOC126805955, TPR (D635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2601815	NM_003292.3(TPR):c.1924C>G (p.Pro642Ala)	LOC126805955, TPR (P642A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542197	NM_003292.3(TPR):c.3332A>G (p.Gln1111Arg)	LOC126805954, TPR (Q1111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492722	NM_003292.3(TPR):c.1931G>A (p.Arg644His)	LOC126805955, TPR (R644H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2374261	NM_003292.3(TPR):c.3329G>A (p.Arg1110His)	LOC126805954, TPR (R1110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318499	NM_003292.3(TPR):c.3259A>G (p.Met1087Val)	LOC126805954, TPR (M1087V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295917	NM_003292.3(TPR):c.3378G>C (p.Glu1126Asp)	LOC126805954, TPR (E1126D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282250	NM_003292.3(TPR):c.3578A>C (p.Gln1193Pro)	LOC126805954, TPR (Q1193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207636	NM_003292.3(TPR):c.3529G>C (p.Gly1177Arg)	LOC126805954, TPR (G1177R)	Single nucleotide variant (missense variant)	not specified	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 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 781667	NM_003292.3(TPR):c.*1711A>G	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 748542	NM_003292.3(TPR):c.1941A>G (p.Thr647=)	LOC126805955, TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 708065	NM_003292.3(TPR):c.3443G>A (p.Arg1148His)	LOC126805954, TPR (R1148H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 488642	NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)	TPR (I346T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
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

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Items: 35