12017[HGNC] - 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	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 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	PLA2G4A, PRG4 +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 disorder	GLikely benign
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 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_003292.3(TPR):c.*1711A>G	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 disorder	GBenign
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 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 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 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 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)	PRG4, TPR (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)	PRG4, TPR (G1211V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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_003292.3(TPR):c.*1087G>T	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)	PRG4, TPR (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 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 2545902	NM_003292.3(TPR):c.6760A>G (p.Thr2254Ala)	TPR (T2254A)	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 2284209	NM_003292.3(TPR):c.6626G>A (p.Arg2209Gln)	TPR (R2209Q)	Single nucleotide variant (missense variant)	not specified	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)	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 3328321	NM_003292.3(TPR):c.6424G>A (p.Val2142Met)	TPR (V2142M)	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 3181599	NM_003292.3(TPR):c.5997T>A (p.Asp1999Glu)	TPR (D1999E)	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 3181598	NM_003292.3(TPR):c.5922T>A (p.Asp1974Glu)	TPR (D1974E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236602	NM_003292.3(TPR):c.5891A>T (p.Asp1964Val)	TPR (D1964V)	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 3328317	NM_003292.3(TPR):c.5780A>G (p.Gln1927Arg)	TPR (Q1927R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303304	NM_003292.3(TPR):c.5755G>A (p.Asp1919Asn)	TPR (D1919N)	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 2526791	NM_003292.3(TPR):c.5701G>A (p.Gly1901Arg)	TPR (G1901R)	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 2622699	NM_003292.3(TPR):c.5627G>C (p.Ser1876Thr)	TPR (S1876T)	Single nucleotide variant (missense variant)	not specified	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 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)	not specified	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)	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 2639666	NM_003292.3(TPR):c.5119A>G (p.Thr1707Ala)	TPR (T1707A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2400330	NM_003292.3(TPR):c.5056A>G (p.Met1686Val)	TPR (M1686V)	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
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 2372489	NM_003292.3(TPR):c.4586G>A (p.Arg1529His)	TPR (R1529H)	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 2234934	NM_003292.3(TPR):c.4087G>A (p.Val1363Ile)	TPR (V1363I)	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 2395272	NM_003292.3(TPR):c.4027G>C (p.Val1343Leu)	TPR (V1343L)	Single nucleotide variant (missense variant)	not specified	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 3328318	NM_003292.3(TPR):c.3927A>T (p.Glu1309Asp)	TPR (E1309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256402	NM_003292.3(TPR):c.3852G>C (p.Glu1284Asp)	TPR (E1284D)	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 3328328	NM_003292.3(TPR):c.3749A>C (p.Gln1250Pro)	TPR (Q1250P)	Single nucleotide variant (missense variant)	not specified	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 3181593	NM_003292.3(TPR):c.3674G>A (p.Arg1225Gln)	TPR (R1225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285785	NM_003292.3(TPR):c.3667C>T (p.Arg1223Cys)	TPR (R1223C)	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 3328323	NM_003292.3(TPR):c.3541C>A (p.Pro1181Thr)	LOC126805954, TPR (P1181T)	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 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)	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 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 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 715995	NM_003292.3(TPR):c.3116C>T (p.Thr1039Ile)	TPR (T1039I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2364168	NM_003292.3(TPR):c.3064A>C (p.Lys1022Gln)	TPR (K1022Q)	Single nucleotide variant (missense variant)	not specified	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 2613027	NM_003292.3(TPR):c.2966A>G (p.Asn989Ser)	TPR (N989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281357	NM_003292.3(TPR):c.2897A>G (p.Gln966Arg)	TPR (Q966R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2390923	NM_003292.3(TPR):c.2731A>G (p.Met911Val)	TPR (M911V)	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 2287888	NM_003292.3(TPR):c.2437A>C (p.Asn813His)	TPR (N813H)	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 2260923	NM_003292.3(TPR):c.2408A>T (p.Glu803Val)	TPR (E803V)	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 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

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