THADA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 3043703	NM_022065.5(THADA):c.5852C>G (p.Ala1951Gly)	THADA (A1910G +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GLikely benign
Select item 2342124	NM_022065.5(THADA):c.5852C>T (p.Ala1951Val)	THADA (A1951V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386291	NM_022065.5(THADA):c.5846C>G (p.Thr1949Arg)	THADA (T1948R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326226	NM_022065.5(THADA):c.5816C>T (p.Ala1939Val)	THADA (A1938V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052385	NM_022065.5(THADA):c.5811T>C (p.Ser1937=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2529060	NM_022065.5(THADA):c.5711T>C (p.Leu1904Pro)	THADA (L1863P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315488	NM_022065.5(THADA):c.5684T>G (p.Phe1895Cys)	THADA (F1854C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650853	NM_022065.5(THADA):c.5653TTC[1] (p.Phe1886del)	THADA (F1845del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2333207	NM_022065.5(THADA):c.5648C>G (p.Ser1883Cys)	THADA (S1882C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554029	NM_022065.5(THADA):c.5555T>C (p.Phe1852Ser)	THADA (F1852S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341829	NM_022065.5(THADA):c.5530G>A (p.Val1844Met)	THADA (V1803M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2371703	NM_022065.5(THADA):c.5504A>G (p.Asn1835Ser)	THADA (N1794S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043565	NM_022065.5(THADA):c.5482C>T (p.Leu1828=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 3033549	NM_022065.5(THADA):c.5475A>C (p.Glu1825Asp)	THADA (E1784D +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GBenign
Select item 2598227	NM_022065.5(THADA):c.5428A>T (p.Ser1810Cys)	THADA (S1809C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209852	NM_022065.5(THADA):c.5398C>G (p.Pro1800Ala)	THADA (P1759A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297495	NM_022065.5(THADA):c.5305T>G (p.Phe1769Val)	THADA (F1768V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 151075	GRCh38/hg38 2p21(chr2:43268121-43301302)x1	LOC122757928, THADA	Copy number loss	See cases	GUncertain significance
Select item 2399389	NM_022065.5(THADA):c.5278A>C (p.Asn1760His)	THADA (N1719H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542119	NM_022065.5(THADA):c.5237A>T (p.Asp1746Val)	THADA (D1705V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043345	NM_022065.5(THADA):c.5221G>A (p.Glu1741Lys)	THADA (E1700K +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GLikely benign
Select item 3057614	NM_022065.5(THADA):c.5164+8C>T	THADA	Single nucleotide variant (intron variant)	THADA-related condition	GLikely benign
Select item 2403285	NM_022065.5(THADA):c.5110G>A (p.Glu1704Lys)	THADA (E1703K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597956	NM_022065.5(THADA):c.5104G>A (p.Val1702Ile)	THADA (V1701I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470947	NM_022065.5(THADA):c.5089G>C (p.Glu1697Gln)	THADA (E1656Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556114	NM_022065.5(THADA):c.5019A>C (p.Glu1673Asp)	THADA (E1673D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3037743	NM_022065.5(THADA):c.5002T>C (p.Cys1668Arg)	THADA (C1627R +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GBenign
Select item 2224462	NM_022065.5(THADA):c.4994T>G (p.Met1665Arg)	THADA (M1624R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462382	NM_022065.5(THADA):c.4916T>C (p.Met1639Thr)	THADA (M1638T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034856	NM_022065.5(THADA):c.4885C>T (p.Leu1629=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2357676	NM_022065.5(THADA):c.4744C>G (p.Pro1582Ala)	LOC122757928, THADA (P1582A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608533	NM_022065.5(THADA):c.4709C>T (p.Ala1570Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034747	NM_022065.5(THADA):c.4631C>G (p.Ser1544Cys)	LOC122757928, THADA (S1503C +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GBenign
Select item 2410726	NM_022065.5(THADA):c.4610G>A (p.Arg1537Gln)	LOC122757928, THADA (R1496Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2311247	NM_022065.5(THADA):c.4589C>T (p.Ala1530Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2318976	NM_022065.5(THADA):c.4573G>T (p.Ala1525Ser)	LOC122757928, THADA (A1484S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612680	NM_022065.5(THADA):c.4568C>T (p.Ala1523Val)	THADA, LOC122757928 (A1482V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279464	NM_022065.5(THADA):c.4528C>G (p.Pro1510Ala)	LOC122757928, THADA (P1510A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 153481	GRCh38/hg38 2p21(chr2:43311324-43541112)x1	LOC126806203, LOC129933610 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2650854	NM_022065.5(THADA):c.4434G>A (p.Gln1478=)	THADA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621325	NM_022065.5(THADA):c.4412A>G (p.Asn1471Ser)	THADA (N1430S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052658	NM_022065.5(THADA):c.4395A>G (p.Leu1465=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 770338	NM_022065.5(THADA):c.4351C>T (p.Pro1451Ser)	THADA (P1410S +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition +1 more	GBenign
Select item 2650855	NM_022065.5(THADA):c.4327C>T (p.Leu1443Phe)	THADA (L1402F +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition +1 more	GLikely benign
Select item 2540158	NM_022065.5(THADA):c.4303A>G (p.Ile1435Val)	THADA (I1394V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3041925	NM_022065.5(THADA):c.4257C>T (p.Asp1419=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GBenign
Select item 2488653	NM_022065.5(THADA):c.4183G>C (p.Asp1395His)	THADA (D1395H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059659	NM_022065.5(THADA):c.4153A>T (p.Thr1385Ser)	THADA (T1344S +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GBenign
Select item 3057780	NM_022065.5(THADA):c.4149T>C (p.Ile1383=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2554018	NM_022065.5(THADA):c.4141A>C (p.Asn1381His)	THADA (N1340H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261889	NM_022065.5(THADA):c.4123A>G (p.Met1375Val)	THADA (M1374V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770868	NM_022065.5(THADA):c.4059G>T (p.Arg1353Ser)	THADA (R1312S +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition +1 more	GBenign
Select item 152766	GRCh38/hg38 2p21(chr2:43407865-43513568)x1	LOC126806203, LOC129933615 +6 more	Copy number loss	See cases	GUncertain significance
Select item 3044603	NM_022065.5(THADA):c.4015TCT[1] (p.Ser1340del)	THADA (S1299del +2 more)	Microsatellite (inframe deletion +1 more)	THADA-related condition	GBenign
Select item 2599206	NM_022065.5(THADA):c.4005G>A (p.Met1335Ile)	THADA (M1334I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399388	NM_022065.5(THADA):c.3994G>A (p.Ala1332Thr)	THADA (A1332T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049739	NM_022065.5(THADA):c.3993C>T (p.Tyr1331=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2203992	NM_022065.5(THADA):c.3956G>A (p.Ser1319Asn)	THADA (S1318N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467392	NM_022065.5(THADA):c.3880C>T (p.Pro1294Ser)	THADA (P1293S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559280	NM_022065.5(THADA):c.3859T>C (p.Ser1287Pro)	THADA (S1246P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057241	NM_022065.5(THADA):c.3744+7G>T	THADA	Single nucleotide variant (intron variant)	THADA-related condition	GBenign
Select item 2333206	NM_022065.5(THADA):c.3616C>T (p.Pro1206Ser)	THADA (P1206S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319885	NM_022065.5(THADA):c.3596A>G (p.Asp1199Gly)	THADA (D1198G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048624	NM_022065.5(THADA):c.3456A>C (p.Ser1152=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2555762	NM_022065.5(THADA):c.3448G>A (p.Asp1150Asn)	THADA (D1109N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650856	NM_022065.5(THADA):c.3324A>T (p.Ala1108=)	THADA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2522230	NM_022065.5(THADA):c.3254C>T (p.Thr1085Met)	THADA (T1084M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263408	NM_022065.5(THADA):c.3253A>C (p.Thr1085Pro)	THADA (T1084P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620196	NM_022065.5(THADA):c.3244G>A (p.Gly1082Arg)	THADA (G1041R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335780	NM_022065.5(THADA):c.3236C>A (p.Ser1079Tyr)	THADA (S1078Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377074	NM_022065.5(THADA):c.3232G>A (p.Glu1078Lys)	THADA (E1037K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294211	NM_022065.5(THADA):c.3221A>T (p.Gln1074Leu)	THADA (Q784L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355366	NM_022065.5(THADA):c.3217A>G (p.Met1073Val)	THADA (M1073V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049606	NM_022065.5(THADA):c.3210T>G (p.Leu1070=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2487380	NM_022065.5(THADA):c.3163A>G (p.Arg1055Gly)	THADA (R1055G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042502	NM_022065.5(THADA):c.3109_3111del (p.Lys1037del)	THADA (K1036del +3 more)	Deletion (inframe deletion +2 more)	THADA-related condition	GBenign
Select item 2234260	NM_022065.5(THADA):c.3076G>A (p.Val1026Met)	THADA (V1025M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372102	NM_022065.5(THADA):c.3065A>T (p.Asn1022Ile)	THADA (N1021I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531551	NM_022065.5(THADA):c.3063G>C (p.Leu1021Phe)	THADA (L1021F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467647	NM_022065.5(THADA):c.3015C>G (p.Asn1005Lys)	THADA (N1005K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522763	NM_022065.5(THADA):c.3013A>C (p.Asn1005His)	THADA (N964H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410351	NM_022065.5(THADA):c.2960G>A (p.Arg987His)	THADA (R697H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271723	NM_022065.5(THADA):c.2938A>G (p.Thr980Ala)	THADA (T980A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746672	NM_022065.5(THADA):c.2919A>G (p.Glu973=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition +1 more	GBenign/Likely benign
Select item 2290116	NM_022065.5(THADA):c.2881A>C (p.Thr961Pro)	THADA (T961P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292907	NM_022065.5(THADA):c.2803T>C (p.Ser935Pro)	THADA (S645P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3044112	NM_022065.5(THADA):c.2658A>G (p.Glu886=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GLikely benign
Select item 2533174	NM_022065.5(THADA):c.2642C>T (p.Pro881Leu)	THADA (P881L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293982	NM_022065.5(THADA):c.2639G>C (p.Arg880Thr)	THADA (R590T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618315	NM_022065.5(THADA):c.2603A>G (p.Tyr868Cys)	THADA (Y828C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338252	NM_022065.5(THADA):c.2600C>T (p.Ala867Val)	THADA (A577V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546979	NM_022065.5(THADA):c.2519C>A (p.Thr840Asn)	THADA (T840N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508508	NM_022065.5(THADA):c.2519C>G (p.Thr840Ser)	THADA (T840S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035054	NM_022065.5(THADA):c.2497G>A (p.Ala833Thr)	THADA (A543T +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GLikely benign
Select item 3056514	NM_022065.5(THADA):c.2496A>C (p.Ala832=)	THADA	Single nucleotide variant (synonymous variant +1 more)	THADA-related condition	GBenign
Select item 2650857	NM_022065.5(THADA):c.2469G>A (p.Ser823=)	THADA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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