ClinVar for Gene (Select 7175) - ClinVar - NCBI

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	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 3328328	NM_003292.3(TPR):c.3749A>C (p.Gln1250Pro)	TPR (Q1250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328327	NM_003292.3(TPR):c.2423A>T (p.Glu808Val)	TPR (E808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328326	NM_003292.3(TPR):c.473C>T (p.Thr158Ile)	TPR (T158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328325	NM_003292.3(TPR):c.3073G>A (p.Ala1025Thr)	TPR (A1025T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328324	NM_003292.3(TPR):c.190A>G (p.Ser64Gly)	TPR (S64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3328322	NM_003292.3(TPR):c.809G>T (p.Ser270Ile)	TPR (S270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328321	NM_003292.3(TPR):c.6424G>A (p.Val2142Met)	TPR (V2142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328320	NM_003292.3(TPR):c.5098A>T (p.Met1700Leu)	TPR (M1700L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328319	NM_003292.3(TPR):c.2765G>T (p.Arg922Ile)	TPR (R922I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328318	NM_003292.3(TPR):c.3927A>T (p.Glu1309Asp)	TPR (E1309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328317	NM_003292.3(TPR):c.5780A>G (p.Gln1927Arg)	TPR (Q1927R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328316	NM_003292.3(TPR):c.1664T>C (p.Val555Ala)	TPR (V555A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328315	NM_003292.3(TPR):c.1478T>C (p.Val493Ala)	TPR (V493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328314	NM_003292.3(TPR):c.4270A>G (p.Ile1424Val)	TPR (I1424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328313	NM_003292.3(TPR):c.758A>G (p.His253Arg)	TPR (H253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328312	NM_003292.3(TPR):c.914G>A (p.Arg305Gln)	TPR (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328311	NM_003292.3(TPR):c.1846A>G (p.Ile616Val)	TPR (I616V)	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 3328309	NM_003292.3(TPR):c.1027C>G (p.Leu343Val)	TPR (L343V)	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 3181602	NM_003292.3(TPR):c.6947G>A (p.Ser2316Asn)	TPR (S2316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181601	NM_003292.3(TPR):c.6902C>T (p.Pro2301Leu)	TPR (P2301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181600	NM_003292.3(TPR):c.6430C>T (p.His2144Tyr)	TPR (H2144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181599	NM_003292.3(TPR):c.5997T>A (p.Asp1999Glu)	TPR (D1999E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181598	NM_003292.3(TPR):c.5922T>A (p.Asp1974Glu)	TPR (D1974E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181597	NM_003292.3(TPR):c.5752A>G (p.Ile1918Val)	TPR (I1918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181596	NM_003292.3(TPR):c.5680A>G (p.Ile1894Val)	TPR (I1894V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181595	NM_003292.3(TPR):c.5177A>T (p.Gln1726Leu)	TPR (Q1726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181594	NM_003292.3(TPR):c.4786G>A (p.Asp1596Asn)	TPR (D1596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181593	NM_003292.3(TPR):c.3674G>A (p.Arg1225Gln)	TPR (R1225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181592	NM_003292.3(TPR):c.3208G>A (p.Glu1070Lys)	TPR (E1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181591	NM_003292.3(TPR):c.3196C>T (p.Arg1066Cys)	TPR (R1066C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181590	NM_003292.3(TPR):c.2380T>A (p.Ser794Thr)	TPR (S794T)	Single nucleotide variant (missense variant)	not specified	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 3181587	NM_003292.3(TPR):c.1400G>A (p.Arg467Gln)	TPR (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181586	NM_003292.3(TPR):c.1322G>A (p.Arg441His)	TPR (R441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181585	NM_003292.3(TPR):c.1316G>A (p.Arg439His)	TPR (R439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181584	NM_003292.3(TPR):c.1162A>G (p.Ile388Val)	TPR (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181583	NM_003292.3(TPR):c.1133T>C (p.Met378Thr)	TPR (M378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181582	NM_003292.3(TPR):c.108C>G (p.Ile36Met)	TPR (I36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
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 2639669	NM_003292.3(TPR):c.811A>T (p.Met271Leu)	TPR (M271L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639668	NM_003292.3(TPR):c.2175T>C (p.Tyr725=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639667	NM_003292.3(TPR):c.2310A>G (p.Ala770=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639666	NM_003292.3(TPR):c.5119A>G (p.Thr1707Ala)	TPR (T1707A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2622699	NM_003292.3(TPR):c.5627G>C (p.Ser1876Thr)	TPR (S1876T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613027	NM_003292.3(TPR):c.2966A>G (p.Asn989Ser)	TPR (N989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612436	NM_003292.3(TPR):c.1886A>G (p.His629Arg)	TPR (H629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2599121	NM_003292.3(TPR):c.688A>G (p.Lys230Glu)	TPR (K230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596220	NM_003292.3(TPR):c.314G>A (p.Arg105His)	TPR (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578591	NM_003292.3(TPR):c.599A>C (p.Glu200Ala)	TPR (E200A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2569271	NM_003292.3(TPR):c.1554T>A (p.Asp518Glu)	TPR (D518E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545902	NM_003292.3(TPR):c.6760A>G (p.Thr2254Ala)	TPR (T2254A)	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 2540071	NM_003292.3(TPR):c.1726A>G (p.Ile576Val)	TPR (I576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537112	NM_003292.3(TPR):c.991G>A (p.Val331Met)	TPR (V331M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536789	NM_003292.3(TPR):c.6059A>G (p.Glu2020Gly)	TPR (E2020G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535020	NM_003292.3(TPR):c.412C>G (p.Leu138Val)	TPR (L138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526791	NM_003292.3(TPR):c.5701G>A (p.Gly1901Arg)	TPR (G1901R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502916	NM_003292.3(TPR):c.2610+5G>A	TPR	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 79	GPathogenic
Select item 2502915	NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)	TPR (R2209*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 79	GPathogenic
Select item 2496100	NM_003292.3(TPR):c.2261A>G (p.Gln754Arg)	TPR (Q754R)	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 2490909	NM_003292.3(TPR):c.920T>G (p.Val307Gly)	TPR (V307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485823	NM_003292.3(TPR):c.3811G>A (p.Val1271Ile)	TPR (V1271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483542	NM_003292.3(TPR):c.839A>T (p.Asn280Ile)	TPR (N280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482316	NM_003292.3(TPR):c.4060T>C (p.Tyr1354His)	TPR (Y1354H)	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 2471200	NM_003292.3(TPR):c.5532C>A (p.Asp1844Glu)	TPR (D1844E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470461	NM_003292.3(TPR):c.6710C>G (p.Ala2237Gly)	TPR (A2237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426819	NC_000001.10:g.(?_185703912)_(186957640_?)dup	HMCN1, OCLM +6 more	Duplication	not provided	GUncertain significance
Select item 2400330	NM_003292.3(TPR):c.5056A>G (p.Met1686Val)	TPR (M1686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395272	NM_003292.3(TPR):c.4027G>C (p.Val1343Leu)	TPR (V1343L)	Single nucleotide variant (missense variant)	not specified	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 2392510	NM_003292.3(TPR):c.3048A>C (p.Gln1016His)	TPR (Q1016H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390923	NM_003292.3(TPR):c.2731A>G (p.Met911Val)	TPR (M911V)	Single nucleotide variant (missense variant)	not specified	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 2380103	NM_003292.3(TPR):c.5614A>G (p.Met1872Val)	TPR (M1872V)	Single nucleotide variant (missense variant)	not specified	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 2372489	NM_003292.3(TPR):c.4586G>A (p.Arg1529His)	TPR (R1529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365176	NM_003292.3(TPR):c.314G>T (p.Arg105Leu)	TPR (R105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364541	NM_003292.3(TPR):c.1336C>T (p.Arg446Cys)	TPR (R446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364168	NM_003292.3(TPR):c.3064A>C (p.Lys1022Gln)	TPR (K1022Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357002	NM_003292.3(TPR):c.5935A>C (p.Thr1979Pro)	TPR (T1979P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348364	NM_003292.3(TPR):c.1844G>A (p.Arg615His)	TPR (R615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337539	NM_003292.3(TPR):c.89C>G (p.Ala30Gly)	TPR (A30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331683	NM_003292.3(TPR):c.5833G>A (p.Val1945Ile)	TPR (V1945I)	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 2311044	NM_003292.3(TPR):c.278C>T (p.Thr93Ile)	TPR (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303989	NM_003292.3(TPR):c.5005A>G (p.Ile1669Val)	TPR (I1669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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