TPR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	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 condition	GLikely benign
Select item 1176528	NM_005807.6(PRG4):c.3848del (p.Gly1283fs)	PRG4, TPR (G1149fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 781667	NM_005807.6(PRG4):c.3879T>C (p.Tyr1293=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 condition	GBenign
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 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 1013544	NM_005807.6(PRG4):c.4013_4014del (p.Lys1338fs)	TPR, PRG4 (K1204fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 2627391	NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)	TPR, PRG4 (W1209* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 2389237	NM_005807.6(PRG4):c.4034G>T (p.Gly1345Val)	TPR, PRG4 (G1211V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1323494	NM_003292.3(TPR):c.*1130G>C	PRG4, TPR (S1312* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
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 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 732422	NM_005807.6(PRG4):c.4107C>A (p.Ala1369=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2381007	NM_005807.6(PRG4):c.4127A>G (p.Tyr1376Cys)	TPR, PRG4 (Y1283C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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
Select item 2545902	NM_003292.3(TPR):c.6760A>G (p.Thr2254Ala)	TPR (T2254A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470461	NM_003292.3(TPR):c.6710C>G (p.Ala2237Gly)	TPR (A2237G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284209	NM_003292.3(TPR):c.6626G>A (p.Arg2209Gln)	TPR (R2209Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 782687	NM_003292.3(TPR):c.6502C>T (p.Pro2168Ser)	TPR (P2168S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251464	NM_003292.3(TPR):c.6434G>C (p.Arg2145Pro)	TPR (R2145P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536789	NM_003292.3(TPR):c.6059A>G (p.Glu2020Gly)	TPR (E2020G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357002	NM_003292.3(TPR):c.5935A>C (p.Thr1979Pro)	TPR (T1979P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236602	NM_003292.3(TPR):c.5891A>T (p.Asp1964Val)	TPR (D1964V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331683	NM_003292.3(TPR):c.5833G>A (p.Val1945Ile)	TPR (V1945I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303304	NM_003292.3(TPR):c.5755G>A (p.Asp1919Asn)	TPR (D1919N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526791	NM_003292.3(TPR):c.5701G>A (p.Gly1901Arg)	TPR (G1901R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622699	NM_003292.3(TPR):c.5627G>C (p.Ser1876Thr)	TPR (S1876T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380103	NM_003292.3(TPR):c.5614A>G (p.Met1872Val)	TPR (M1872V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748541	NM_003292.3(TPR):c.5586C>T (p.Val1862=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471200	NM_003292.3(TPR):c.5532C>A (p.Asp1844Glu)	TPR (D1844E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770682	NM_003292.3(TPR):c.5495G>A (p.Arg1832His)	TPR (R1832H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2287418	NM_003292.3(TPR):c.5203G>A (p.Val1735Met)	TPR (V1735M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2400330	NM_003292.3(TPR):c.5056A>G (p.Met1686Val)	TPR (M1686V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303989	NM_003292.3(TPR):c.5005A>G (p.Ile1669Val)	TPR (I1669V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372489	NM_003292.3(TPR):c.4586G>A (p.Arg1529His)	TPR (R1529H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234934	NM_003292.3(TPR):c.4087G>A (p.Val1363Ile)	TPR (V1363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482316	NM_003292.3(TPR):c.4060T>C (p.Tyr1354His)	TPR (Y1354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395272	NM_003292.3(TPR):c.4027G>C (p.Val1343Leu)	TPR (V1343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778239	NM_003292.3(TPR):c.3942G>A (p.Leu1314=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256402	NM_003292.3(TPR):c.3852G>C (p.Glu1284Asp)	TPR (E1284D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485823	NM_003292.3(TPR):c.3811G>A (p.Val1271Ile)	TPR (V1271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755180	NM_003292.3(TPR):c.3720T>C (p.Asp1240=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727199	NM_003292.3(TPR):c.3675A>G (p.Arg1225=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285785	NM_003292.3(TPR):c.3667C>T (p.Arg1223Cys)	TPR (R1223C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282250	NM_003292.3(TPR):c.3578A>C (p.Gln1193Pro)	LOC126805954, TPR (Q1193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207636	NM_003292.3(TPR):c.3529G>C (p.Gly1177Arg)	LOC126805954, TPR (G1177R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2295917	NM_003292.3(TPR):c.3378G>C (p.Glu1126Asp)	LOC126805954, TPR (E1126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542197	NM_003292.3(TPR):c.3332A>G (p.Gln1111Arg)	LOC126805954, TPR (Q1111R)	Single nucleotide variant (missense variant)	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)	Inborn genetic diseases	GUncertain significance
Select item 2318499	NM_003292.3(TPR):c.3259A>G (p.Met1087Val)	LOC126805954, TPR (M1087V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715995	NM_003292.3(TPR):c.3116C>T (p.Thr1039Ile)	TPR (T1039I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2364168	NM_003292.3(TPR):c.3064A>C (p.Lys1022Gln)	TPR (K1022Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392510	NM_003292.3(TPR):c.3048A>C (p.Gln1016His)	TPR (Q1016H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613027	NM_003292.3(TPR):c.2966A>G (p.Asn989Ser)	TPR (N989S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281357	NM_003292.3(TPR):c.2897A>G (p.Gln966Arg)	TPR (Q966R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390923	NM_003292.3(TPR):c.2731A>G (p.Met911Val)	TPR (M911V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2287888	NM_003292.3(TPR):c.2437A>C (p.Asn813His)	TPR (N813H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260923	NM_003292.3(TPR):c.2408A>T (p.Glu803Val)	TPR (E803V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639667	NM_003292.3(TPR):c.2310A>G (p.Ala770=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787755	NM_003292.3(TPR):c.2286G>A (p.Thr762=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496100	NM_003292.3(TPR):c.2261A>G (p.Gln754Arg)	TPR (Q754R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639668	NM_003292.3(TPR):c.2175T>C (p.Tyr725=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2492722	NM_003292.3(TPR):c.1931G>A (p.Arg644His)	LOC126805955, TPR (R644H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601815	NM_003292.3(TPR):c.1924C>G (p.Pro642Ala)	LOC126805955, TPR (P642A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612436	NM_003292.3(TPR):c.1886A>G (p.His629Arg)	TPR (H629R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348364	NM_003292.3(TPR):c.1844G>A (p.Arg615His)	TPR (R615H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540071	NM_003292.3(TPR):c.1726A>G (p.Ile576Val)	TPR (I576V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152833	GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3	LOC129932122, LOC129932123 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2569271	NM_003292.3(TPR):c.1554T>A (p.Asp518Glu)	TPR (D518E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770683	NM_003292.3(TPR):c.1399C>A (p.Arg467=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2364541	NM_003292.3(TPR):c.1336C>T (p.Arg446Cys)	TPR (R446C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287306	NM_003292.3(TPR):c.1141A>G (p.Thr381Ala)	TPR (T381A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303144	NM_003292.3(TPR):c.1070A>G (p.Asn357Ser)	TPR (N357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2537112	NM_003292.3(TPR):c.991G>A (p.Val331Met)	TPR (V331M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490909	NM_003292.3(TPR):c.920T>G (p.Val307Gly)	TPR (V307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483542	NM_003292.3(TPR):c.839A>T (p.Asn280Ile)	TPR (N280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2262229	NM_003292.3(TPR):c.746A>T (p.His249Leu)	TPR (H249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599121	NM_003292.3(TPR):c.688A>G (p.Lys230Glu)	TPR (K230E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2535020	NM_003292.3(TPR):c.412C>G (p.Leu138Val)	TPR (L138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596220	NM_003292.3(TPR):c.314G>A (p.Arg105His)	TPR (R105H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365176	NM_003292.3(TPR):c.314G>T (p.Arg105Leu)	TPR (R105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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