24746[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2393938	NM_001145030.2(TOPAZ1):c.29C>G (p.Thr10Arg)	TOPAZ1 (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181250	NM_001145030.2(TOPAZ1):c.80C>T (p.Ala27Val)	TOPAZ1 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181251	NM_001145030.2(TOPAZ1):c.98C>T (p.Ala33Val)	TOPAZ1 (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459781	NM_001145030.2(TOPAZ1):c.121G>A (p.Gly41Arg)	TOPAZ1 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376897	NM_001145030.2(TOPAZ1):c.169A>C (p.Thr57Pro)	TOPAZ1 (T57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181227	NM_001145030.2(TOPAZ1):c.184G>A (p.Glu62Lys)	TOPAZ1 (E62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218684	NM_001145030.2(TOPAZ1):c.232G>A (p.Ala78Thr)	TOPAZ1 (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787014	NM_001145030.2(TOPAZ1):c.283_291dup (p.Ser95_Pro97dup)	TOPAZ1	Duplication (inframe_insertion)	not provided	GBenign
Select item 2550221	NM_001145030.2(TOPAZ1):c.284C>T (p.Ser95Leu)	TOPAZ1 (S95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604124	NM_001145030.2(TOPAZ1):c.323T>G (p.Leu108Arg)	TOPAZ1 (L108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181237	NM_001145030.2(TOPAZ1):c.328T>G (p.Leu110Val)	TOPAZ1 (L110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286317	NM_001145030.2(TOPAZ1):c.335C>T (p.Thr112Met)	TOPAZ1 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328088	NM_001145030.2(TOPAZ1):c.349A>G (p.Lys117Glu)	TOPAZ1 (K117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181238	NM_001145030.2(TOPAZ1):c.354A>C (p.Glu118Asp)	TOPAZ1 (E118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181246	NM_001145030.2(TOPAZ1):c.487A>C (p.Ile163Leu)	TOPAZ1 (I163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400865	NM_001145030.2(TOPAZ1):c.598G>A (p.Asp200Asn)	TOPAZ1 (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181247	NM_001145030.2(TOPAZ1):c.637A>G (p.Ile213Val)	TOPAZ1 (I213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181248	NM_001145030.2(TOPAZ1):c.646C>A (p.Pro216Thr)	TOPAZ1 (P216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181249	NM_001145030.2(TOPAZ1):c.696C>G (p.Phe232Leu)	TOPAZ1 (F232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560712	NM_001145030.2(TOPAZ1):c.766G>A (p.Ala256Thr)	TOPAZ1 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338447	NM_001145030.2(TOPAZ1):c.793C>T (p.Leu265Phe)	TOPAZ1 (L265F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254110	NM_001145030.2(TOPAZ1):c.857A>G (p.Asn286Ser)	TOPAZ1 (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286855	NM_001145030.2(TOPAZ1):c.980G>A (p.Gly327Glu)	TOPAZ1 (G327E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359660	NM_001145030.2(TOPAZ1):c.983G>A (p.Arg328Gln)	TOPAZ1 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322824	NM_001145030.2(TOPAZ1):c.999G>C (p.Arg333Ser)	TOPAZ1 (R333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181221	NM_001145030.2(TOPAZ1):c.1115C>T (p.Ala372Val)	TOPAZ1 (A372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306471	NM_001145030.2(TOPAZ1):c.1124A>C (p.Lys375Thr)	TOPAZ1 (K375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787015	NM_001145030.2(TOPAZ1):c.1148A>G (p.Lys383Arg)	TOPAZ1 (K383R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2231162	NM_001145030.2(TOPAZ1):c.1157A>G (p.His386Arg)	TOPAZ1 (H386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181222	NM_001145030.2(TOPAZ1):c.1163C>A (p.Thr388Lys)	TOPAZ1 (T388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181223	NM_001145030.2(TOPAZ1):c.1232A>G (p.His411Arg)	TOPAZ1 (H411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408598	NM_001145030.2(TOPAZ1):c.1250A>G (p.Gln417Arg)	TOPAZ1 (Q417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390845	NM_001145030.2(TOPAZ1):c.1289A>C (p.Asn430Thr)	TOPAZ1 (N430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456276	NM_001145030.2(TOPAZ1):c.1301C>T (p.Pro434Leu)	TOPAZ1 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509868	NM_001145030.2(TOPAZ1):c.1325C>T (p.Ser442Leu)	TOPAZ1 (S442L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 721611	NM_001145030.2(TOPAZ1):c.1349A>G (p.Lys450Arg)	TOPAZ1 (K450R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2360248	NM_001145030.2(TOPAZ1):c.1402C>T (p.Arg468Trp)	TOPAZ1 (R468W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345079	NM_001145030.2(TOPAZ1):c.1483C>T (p.Pro495Ser)	TOPAZ1 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369166	NM_001145030.2(TOPAZ1):c.1516T>G (p.Cys506Gly)	TOPAZ1 (C506G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356273	NM_001145030.2(TOPAZ1):c.1532C>T (p.Ser511Phe)	TOPAZ1 (S511F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507758	NM_001145030.2(TOPAZ1):c.1558C>T (p.Arg520Cys)	TOPAZ1 (R520C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181224	NM_001145030.2(TOPAZ1):c.1574G>A (p.Ser525Asn)	TOPAZ1 (S525N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379328	NM_001145030.2(TOPAZ1):c.1595C>T (p.Pro532Leu)	TOPAZ1 (P532L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181225	NM_001145030.2(TOPAZ1):c.1631C>T (p.Ser544Phe)	TOPAZ1 (S544F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328091	NM_001145030.2(TOPAZ1):c.1706C>T (p.Ser569Phe)	TOPAZ1 (S569F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288601	NM_001145030.2(TOPAZ1):c.1723G>A (p.Val575Ile)	TOPAZ1 (V575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549911	NM_001145030.2(TOPAZ1):c.1771A>G (p.Lys591Glu)	TOPAZ1 (K591E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541069	NM_001145030.2(TOPAZ1):c.1809A>T (p.Arg603Ser)	TOPAZ1 (R603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344728	NM_001145030.2(TOPAZ1):c.1825A>T (p.Ile609Phe)	TOPAZ1 (I609F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328092	NM_001145030.2(TOPAZ1):c.1861G>A (p.Glu621Lys)	TOPAZ1 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391858	NM_001145030.2(TOPAZ1):c.1865C>T (p.Thr622Ile)	TOPAZ1 (T622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521002	NM_001145030.2(TOPAZ1):c.1883A>G (p.Asn628Ser)	TOPAZ1 (N628S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181228	NM_001145030.2(TOPAZ1):c.1924A>G (p.Thr642Ala)	TOPAZ1 (T642A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328076	NM_001145030.2(TOPAZ1):c.1928C>T (p.Ala643Val)	TOPAZ1 (A643V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328090	NM_001145030.2(TOPAZ1):c.1934C>T (p.Ser645Phe)	TOPAZ1 (S645F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181229	NM_001145030.2(TOPAZ1):c.1955A>G (p.Asn652Ser)	TOPAZ1 (N652S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528198	NM_001145030.2(TOPAZ1):c.1958A>G (p.Asn653Ser)	TOPAZ1 (N653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181230	NM_001145030.2(TOPAZ1):c.2010T>A (p.Phe670Leu)	TOPAZ1 (F670L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556662	NM_001145030.2(TOPAZ1):c.2029A>G (p.Lys677Glu)	TOPAZ1 (K677E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552922	NM_001145030.2(TOPAZ1):c.2047C>T (p.Arg683Trp)	TOPAZ1 (R683W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218523	NM_001145030.2(TOPAZ1):c.2101G>A (p.Glu701Lys)	TOPAZ1 (E701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369366	NM_001145030.2(TOPAZ1):c.2156A>G (p.Asp719Gly)	TOPAZ1 (D719G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767898	NM_001145030.2(TOPAZ1):c.2209A>G (p.Met737Val)	TOPAZ1 (M737V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2545313	NM_001145030.2(TOPAZ1):c.2212A>G (p.Met738Val)	TOPAZ1 (M738V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328078	NM_001145030.2(TOPAZ1):c.2320A>C (p.Thr774Pro)	TOPAZ1 (T774P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328085	NM_001145030.2(TOPAZ1):c.2326C>G (p.Gln776Glu)	TOPAZ1 (Q776E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181231	NM_001145030.2(TOPAZ1):c.2433T>A (p.Asp811Glu)	TOPAZ1 (D811E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533504	NM_001145030.2(TOPAZ1):c.2491C>G (p.Pro831Ala)	TOPAZ1 (P831A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328079	NM_001145030.2(TOPAZ1):c.2546G>A (p.Gly849Glu)	TOPAZ1 (G849E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410654	NM_001145030.2(TOPAZ1):c.2581G>A (p.Val861Ile)	TOPAZ1 (V861I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714083	NM_001145030.2(TOPAZ1):c.2634T>C (p.Asn878=)	TOPAZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2467520	NM_001145030.2(TOPAZ1):c.2879T>C (p.Val960Ala)	TOPAZ1 (V960A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181233	NM_001145030.2(TOPAZ1):c.2929A>G (p.Ile977Val)	TOPAZ1 (I977V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328087	NM_001145030.2(TOPAZ1):c.2933A>G (p.Lys978Arg)	TOPAZ1 (K978R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181234	NM_001145030.2(TOPAZ1):c.2963T>C (p.Phe988Ser)	TOPAZ1 (F988S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328083	NM_001145030.2(TOPAZ1):c.3052G>A (p.Gly1018Ser)	TOPAZ1 (G1018S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551468	NM_001145030.2(TOPAZ1):c.3080C>T (p.Pro1027Leu)	TOPAZ1 (P1027L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328086	NM_001145030.2(TOPAZ1):c.3125G>A (p.Arg1042His)	TOPAZ1 (R1042H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278434	NM_001145030.2(TOPAZ1):c.3195G>C (p.Lys1065Asn)	TOPAZ1 (K1065N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321591	NM_001145030.2(TOPAZ1):c.3205C>A (p.Pro1069Thr)	TOPAZ1 (P1069T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409530	NM_001145030.2(TOPAZ1):c.3244G>A (p.Gly1082Arg)	TOPAZ1 (G1082R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181235	NM_001145030.2(TOPAZ1):c.3266G>A (p.Gly1089Glu)	TOPAZ1 (G1089E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181236	NM_001145030.2(TOPAZ1):c.3277C>A (p.Pro1093Thr)	TOPAZ1 (P1093T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331370	NM_001145030.2(TOPAZ1):c.3376T>G (p.Cys1126Gly)	TOPAZ1 (C1126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328089	NM_001145030.2(TOPAZ1):c.3383A>G (p.Asp1128Gly)	TOPAZ1 (D1128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328081	NM_001145030.2(TOPAZ1):c.3440A>G (p.Asn1147Ser)	TOPAZ1 (N1147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248422	NM_001145030.2(TOPAZ1):c.3442A>T (p.Ile1148Leu)	TOPAZ1 (I1148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594633	NM_001145030.2(TOPAZ1):c.3554A>T (p.Gln1185Leu)	TOPAZ1 (Q1185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554858	NM_001145030.2(TOPAZ1):c.3634A>G (p.Met1212Val)	TOPAZ1 (M1212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366390	NM_001145030.2(TOPAZ1):c.3722A>G (p.Asn1241Ser)	LOC126806663, TOPAZ1 (N1241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400864	NM_001145030.2(TOPAZ1):c.3784G>C (p.Glu1262Gln)	LOC126806663, TOPAZ1 (E1262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787016	NM_001145030.2(TOPAZ1):c.3812G>A (p.Arg1271Gln)	TOPAZ1 (R1271Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3328077	NM_001145030.2(TOPAZ1):c.3879A>C (p.Lys1293Asn)	TOPAZ1 (K1293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181240	NM_001145030.2(TOPAZ1):c.3880G>C (p.Gly1294Arg)	TOPAZ1 (G1294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456226	NM_001145030.2(TOPAZ1):c.3910A>G (p.Ile1304Val)	TOPAZ1 (I1304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328082	NM_001145030.2(TOPAZ1):c.3988A>C (p.Asn1330His)	TOPAZ1 (N1330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255612	NM_001145030.2(TOPAZ1):c.4006C>A (p.Pro1336Thr)	TOPAZ1 (P1336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786876	NM_001145030.2(TOPAZ1):c.4055A>G (p.Gln1352Arg)	TOPAZ1 (Q1352R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3181241	NM_001145030.2(TOPAZ1):c.4059C>G (p.Asn1353Lys)	TOPAZ1 (N1353K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328080	NM_001145030.2(TOPAZ1):c.4178T>C (p.Ile1393Thr)	TOPAZ1 (I1393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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