"Ambry Genetics"[submitter] AND "ANK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2300222	NM_000037.4(ANK1):c.5632G>A (p.Gly1878Arg)	ANK1 (G1878R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1303170	NM_000037.4(ANK1):c.5615G>A (p.Arg1872Gln)	ANK1 (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2401899	NM_000037.4(ANK1):c.5573C>T (p.Pro1858Leu)	ANK1 (P1858L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528954	NM_000037.4(ANK1):c.5538C>G (p.His1846Gln)	ANK1 (H121Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294305	NM_000037.4(ANK1):c.5518G>A (p.Ala1840Thr)	ANK1 (A1840T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284169	NM_000037.4(ANK1):c.5465T>A (p.Ile1822Asn)	ANK1 (I97N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410246	NM_000037.4(ANK1):c.5402A>C (p.Glu1801Ala)	ANK1 (E1801A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287049	NM_000037.4(ANK1):c.5365G>A (p.Ala1789Thr)	ANK1 (A1789T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259433	NM_000037.4(ANK1):c.5317G>C (p.Ala1773Pro)	ANK1 (A1773P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318003	NM_000037.4(ANK1):c.5311T>C (p.Ser1771Pro)	ANK1 (S1609P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527331	NM_000037.4(ANK1):c.5256G>C (p.Lys1752Asn)	ANK1 (K1590N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2265692	NM_000037.4(ANK1):c.5210C>T (p.Thr1737Ile)	ANK1 (T1575I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273501	NM_000037.4(ANK1):c.5179C>A (p.Gln1727Lys)	ANK1 (Q1768K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294367	NM_000037.4(ANK1):c.5138T>A (p.Leu1713Gln)	ANK1 (L1551Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371436	NM_000037.4(ANK1):c.5129T>A (p.Val1710Asp)	ANK1 (V1548D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439044	NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)	ANK1 (I1547T +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909744	NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)	ANK1 (G1545S +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 1176882	NM_000037.4(ANK1):c.5080G>A (p.Glu1694Lys)	ANK1 (E1532K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2260338	NM_000037.4(ANK1):c.5065G>A (p.Val1689Met)	ANK1 (V1527M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119210	NM_000037.4(ANK1):c.5059C>T (p.Pro1687Ser)	ANK1 (P1687S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213274	NM_000037.4(ANK1):c.4979C>T (p.Thr1660Ile)	ANK1 (T1660I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467169	NM_000037.4(ANK1):c.4862T>A (p.Val1621Glu)	ANK1 (V1662E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409306	NM_000037.4(ANK1):c.4787C>G (p.Thr1596Arg)	ANK1 (T1637R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294331	NM_000037.4(ANK1):c.4735A>T (p.Thr1579Ser)	ANK1 (T1579S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2894686	NM_000037.4(ANK1):c.4680G>A (p.Met1560Ile)	ANK1 (M1601I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2286781	NM_000037.4(ANK1):c.4664C>T (p.Thr1555Met)	ANK1 (T1596M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2553721	NM_000037.4(ANK1):c.4621T>C (p.Trp1541Arg)	ANK1 (W1541R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 617975	NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)	ANK1 (R1536C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3119186	NM_000037.4(ANK1):c.4519T>C (p.Ser1507Pro)	ANK1, LOC126860368 (S1548P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119179	NM_000037.4(ANK1):c.4501G>A (p.Asp1501Asn)	ANK1, LOC126860368 (D1501N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163880	NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)	ANK1, LOC126860368 (R1491H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 2555772	NM_000037.4(ANK1):c.4439T>C (p.Val1480Ala)	ANK1, LOC126860368 (V1480A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309252	NM_000037.4(ANK1):c.4421T>C (p.Ile1474Thr)	ANK1, LOC126860368 (I1474T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3119166	NM_000037.4(ANK1):c.4419C>A (p.Ser1473Arg)	ANK1, LOC126860368 (S1473R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362993	NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)	ANK1 (Y1386H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +3 more	GUncertain significance
Select item 2275859	NM_000037.4(ANK1):c.4133C>A (p.Thr1378Asn)	ANK1 (T1378N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480430	NM_000037.4(ANK1):c.4117G>A (p.Glu1373Lys)	ANK1 (E1414K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727064	NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr)	ANK1 (A1408T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GLikely benign
Select item 2889539	NM_000037.4(ANK1):c.4007C>T (p.Pro1336Leu)	ANK1 (P1336L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2297363	NM_000037.4(ANK1):c.3998G>A (p.Ser1333Asn)	ANK1 (S1333N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238514	NM_000037.4(ANK1):c.3976C>T (p.Pro1326Ser)	ANK1 (P1367S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294307	NM_000037.4(ANK1):c.3956G>A (p.Arg1319Gln)	ANK1 (R1319Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 910770	NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)	ANK1 (R1360W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 910771	NM_000037.4(ANK1):c.3941A>C (p.His1314Pro)	ANK1 (H1355P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3119140	NM_000037.4(ANK1):c.3927G>C (p.Gln1309His)	ANK1 (Q1350H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294302	NM_000037.4(ANK1):c.3881T>A (p.Phe1294Tyr)	ANK1 (F1335Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617781	NM_000037.4(ANK1):c.3769C>T (p.Arg1257Cys)	ANK1 (R1257C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435016	NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)	ANK1 (R1252* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2268229	NM_000037.4(ANK1):c.3740A>C (p.Lys1247Thr)	ANK1 (K1288T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475050	NM_000037.4(ANK1):c.3704C>T (p.Ala1235Val)	ANK1 (A1276V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333534	NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)	ANK1 (S1255L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2603556	NM_000037.4(ANK1):c.3581T>C (p.Leu1194Pro)	ANK1 (L1194P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294383	NM_000037.4(ANK1):c.3484A>G (p.Ser1162Gly)	ANK1 (S1203G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294300	NM_000037.4(ANK1):c.3416G>A (p.Arg1139Gln)	ANK1 (R1139Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406129	NM_000037.4(ANK1):c.3341C>T (p.Pro1114Leu)	ANK1 (P1114L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246468	NM_000037.4(ANK1):c.3281C>T (p.Thr1094Met)	ANK1 (T1094M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294375	NM_000037.4(ANK1):c.3280A>T (p.Thr1094Ser)	ANK1 (T1135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353641	NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)	ANK1 (E1079K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 810942	NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg)	ANK1 (G1077R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 2386439	NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)	ANK1 (D1115N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 3294294	NM_000037.4(ANK1):c.3196A>T (p.Met1066Leu)	ANK1 (M1066L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119112	NM_000037.4(ANK1):c.3065G>A (p.Ser1022Asn)	ANK1 (S1022N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259565	NM_000037.4(ANK1):c.3034G>A (p.Glu1012Lys)	ANK1 (E1053K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602689	NM_000037.4(ANK1):c.2914G>A (p.Ala972Thr)	ANK1 (A1013T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290884	NM_000037.4(ANK1):c.2890C>T (p.Pro964Ser)	ANK1 (P964S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119094	NM_000037.4(ANK1):c.2855G>T (p.Arg952Leu)	ANK1 (R993L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119089	NM_000037.4(ANK1):c.2843G>A (p.Arg948His)	ANK1 (R989H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385109	NM_000037.4(ANK1):c.2765G>A (p.Arg922Gln)	ANK1 (R922Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469123	NM_000037.4(ANK1):c.2728C>A (p.His910Asn)	ANK1 (H951N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549480	NM_000037.4(ANK1):c.2681C>T (p.Pro894Leu)	ANK1 (P894L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688559	NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)	ANK1 (V847L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2559644	NM_000037.4(ANK1):c.2473A>G (p.Ile825Val)	ANK1 (I825V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3119070	NM_000037.4(ANK1):c.2359A>C (p.Lys787Gln)	ANK1, LOC130000286 (K820Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688564	NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)	ANK1 (G745E +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 363019	NM_000037.4(ANK1):c.2167C>A (p.His723Asn)	ANK1 (H756N +1 more)	Single nucleotide variant (missense variant)	Spherocytosis +3 more	GConflicting classifications of pathogenicity
Select item 3119057	NM_000037.4(ANK1):c.2069A>G (p.His690Arg)	ANK1 (H723R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529470	NM_000037.4(ANK1):c.2011C>T (p.Pro671Ser)	ANK1 (P671S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400663	NM_000037.4(ANK1):c.1772G>A (p.Arg591Gln)	ANK1, LOC126860369 (R591Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237258	NM_000037.4(ANK1):c.1744C>G (p.Leu582Val)	ANK1, LOC126860369 (L615V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314594	NM_000037.4(ANK1):c.1685C>T (p.Pro562Leu)	ANK1 (P595L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2246266	NM_000037.4(ANK1):c.1678G>A (p.Ala560Thr)	ANK1 (A560T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 363028	NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser)	ANK1 (P496S +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 2439054	NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)	ANK1 (R479C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 363029	NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile)	ANK1 (T505I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2405571	NM_000037.4(ANK1):c.1349C>T (p.Thr450Met)	ANK1 (T483M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 363032	NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)	ANK1 (R446T +1 more)	Single nucleotide variant (missense variant)	Spherocytosis +3 more	GConflicting classifications of pathogenicity
Select item 3294349	NM_000037.4(ANK1):c.1294G>A (p.Val432Ile)	ANK1 (V432I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 363033	NM_000037.4(ANK1):c.1286C>T (p.Ser429Leu)	ANK1 (S429L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 811818	NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln)	ANK1 (R426Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2465917	NM_000037.4(ANK1):c.1228G>A (p.Val410Met)	ANK1 (V410M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2624108	NM_000037.4(ANK1):c.1193A>T (p.Asp398Val)	ANK1 (D431V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615826	NM_000037.4(ANK1):c.1154G>A (p.Arg385His)	ANK1 (R385H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226193	NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)	ANK1 (V384I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2404828	NM_000037.4(ANK1):c.1143G>C (p.Lys381Asn)	ANK1 (K381N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294360	NM_000037.4(ANK1):c.1085C>T (p.Ala362Val)	ANK1 (A362V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030547	NM_000037.4(ANK1):c.1066G>A (p.Val356Ile)	ANK1 (V356I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2612442	NM_000037.4(ANK1):c.1064A>G (p.Lys355Arg)	ANK1 (K388R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119276	NM_000037.4(ANK1):c.956A>C (p.Asp319Ala)	ANK1 (D352A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474747	NM_000037.4(ANK1):c.898G>A (p.Ala300Thr)	ANK1 (A300T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264146	NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)	ANK1 (R261Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance

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