Ank1 Variant Search Result - Rat Genome Database

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1006 records found for search term Ank1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11600149	CV314330	single nucleotide variant	NM_000037.4(ANK1):c.*4C>T	Hereditary spherocytosis type 1 [RCV000271261]\|Spherocytosis [RCV001162508]	uncertain significance	8	41661462	41661462	Human	3	name , alternate_id
28868459	CV899566	single nucleotide variant	NM_000037.4(ANK1):c.*8C>A	Hereditary spherocytosis type 1 [RCV001162507]\|Spherocytosis [RCV001162506]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41661458	41661458	Human	3	name , alternate_id
405275606	CV3196413	single nucleotide variant	NM_000037.4(ANK1):c.*10G>A	ANK1-related disorder [RCV003974250]	likely benign	8	41661456	41661456	Human		name , trait , alternate_id
28909814	CV899562	single nucleotide variant	NM_000037.4(ANK1):c.*64A>G	Hereditary spherocytosis type 1 [RCV001160899]\|Spherocytosis [RCV001160898]	uncertain significance	8	41655726	41655726	Human	3	name , alternate_id
28909816	CV899563	single nucleotide variant	NM_000037.4(ANK1):c.*48G>A	Hereditary spherocytosis type 1 [RCV001160901]\|Spherocytosis [RCV001160900]	uncertain significance	8	41655742	41655742	Human	3	name , alternate_id
28868456	CV899564	single nucleotide variant	NM_000037.4(ANK1):c.*32G>A	Hereditary spherocytosis type 1 [RCV001162503]\|Spherocytosis [RCV001162504]	uncertain significance	8	41661434	41661434	Human	3	name , alternate_id
28868458	CV899565	single nucleotide variant	NM_000037.4(ANK1):c.*31C>T	Hereditary spherocytosis type 1 [RCV001162505]	uncertain significance	8	41661435	41661435	Human	1	name , alternate_id
28908578	CV899605	single nucleotide variant	NM_000037.4(ANK1):c.-33G>A	Hereditary spherocytosis type 1 [RCV001160176]\|Spherocytosis [RCV001160177]	uncertain significance	8	41797571	41797571	Human	3	name , alternate_id
28908581	CV899606	single nucleotide variant	NM_000037.4(ANK1):c.-63A>G	Hereditary spherocytosis type 1 [RCV001160179]\|Spherocytosis [RCV001160178]	uncertain significance	8	41797601	41797601	Human	3	name , alternate_id
127288538	CV1152320	single nucleotide variant	NM_000037.4(ANK1):c.*417G>C	not provided [RCV001508607]	uncertain significance	8	41655373	41655373	Human		name
150548154	CV1314177	deletion	NM_000037.4(ANK1):c.28-2del	Hereditary spherocytosis type 1 [RCV001785930]	likely pathogenic	8	41758139	41758139	Human		name , alternate_id
156160014	CV1984418	single nucleotide variant	NM_000037.4(ANK1):c.28-2A>G	not provided [RCV002642372]	likely pathogenic	8	41758139	41758139	Human		name
11607419	CV305267	single nucleotide variant	NM_000037.4(ANK1):c.*774A>G	Hereditary spherocytosis type 1 [RCV000342881]\|Spherocytosis [RCV001162405]	benign\|likely benign\|uncertain significance	8	41655016	41655016	Human	3	name , alternate_id
11604150	CV305268	deletion	NM_000037.4(ANK1):c.*385del	Hereditary spherocytosis type 1 [RCV002253393]\|Spherocytosis, Dominant [RCV000306529]\|not provided [RCV001692058]	benign\|likely benign	8	41655405	41655405	Human	2	name , alternate_id
11601282	CV309073	single nucleotide variant	NM_000037.4(ANK1):c.*701C>T	Hereditary spherocytosis type 1 [RCV000280971]\|Spherocytosis [RCV001164450]	uncertain significance	8	41655089	41655089	Human	3	name , alternate_id
11609076	CV309075	single nucleotide variant	NM_000037.4(ANK1):c.*238T>C	Hereditary spherocytosis type 1 [RCV000363501]\|Spherocytosis [RCV001160896]\|not provided [RCV001692059]	benign\|likely benign	8	41655552	41655552	Human	3	name , alternate_id
11610155	CV314329	single nucleotide variant	NM_000037.4(ANK1):c.*992T>C	Hereditary spherocytosis type 1 [RCV000377724]\|Spherocytosis [RCV001160780]	likely benign\|uncertain significance	8	41654798	41654798	Human	3	name , alternate_id
11660767	CV314332	single nucleotide variant	NM_000037.4(ANK1):c.*651A>C	Hereditary spherocytosis type 1 [RCV000369882]\|Spherocytosis [RCV001164453]	uncertain significance	8	41655139	41655139	Human	3	name , alternate_id
11612209	CV314333	duplication	NM_000037.4(ANK1):c.*484dup	Spherocytosis, Dominant [RCV000405198]	likely benign	8	41655305	41655306	Human	1	name
597960031	CV3797933	single nucleotide variant	NM_000037.4(ANK1):c.27+5G>A	not provided [RCV005138407]	uncertain significance	8	41797507	41797507	Human		name
597957558	CV3800444	single nucleotide variant	NM_000037.4(ANK1):c.27+1G>A	not provided [RCV005137536]	likely pathogenic	8	41797511	41797511	Human		name
28909652	CV899549	single nucleotide variant	NM_000037.4(ANK1):c.*866C>G	Hereditary spherocytosis type 1 [RCV001160782]\|Spherocytosis [RCV001160781]	uncertain significance	8	41654924	41654924	Human	3	name , alternate_id
28909656	CV899550	single nucleotide variant	NM_000037.4(ANK1):c.*857C>A	Hereditary spherocytosis type 1 [RCV001160783]\|Spherocytosis [RCV001160784]	likely benign\|uncertain significance	8	41654933	41654933	Human	3	name , alternate_id
28868292	CV899551	single nucleotide variant	NM_000037.4(ANK1):c.*822G>A	Hereditary spherocytosis type 1 [RCV001162400]\|Spherocytosis [RCV001162399]	uncertain significance	8	41654968	41654968	Human	3	name , alternate_id
28868294	CV899552	single nucleotide variant	NM_000037.4(ANK1):c.*821C>T	Hereditary spherocytosis type 1 [RCV001162402]\|Spherocytosis [RCV001162401]	likely benign\|uncertain significance	8	41654969	41654969	Human	3	name , alternate_id
28868298	CV899553	single nucleotide variant	NM_000037.4(ANK1):c.*795A>G	Hereditary spherocytosis type 1 [RCV001162404]\|Spherocytosis [RCV001162403]	uncertain significance	8	41654995	41654995	Human	3	name , alternate_id
28872555	CV899554	single nucleotide variant	NM_000037.4(ANK1):c.*665C>T	Hereditary spherocytosis type 1 [RCV001164452]\|Spherocytosis [RCV001164451]	uncertain significance	8	41655125	41655125	Human	3	name , alternate_id
28872559	CV899555	single nucleotide variant	NM_000037.4(ANK1):c.*437A>C	Hereditary spherocytosis type 1 [RCV001164455]\|Spherocytosis [RCV001164454]	uncertain significance	8	41655353	41655353	Human	3	name , alternate_id
28907410	CV899556	single nucleotide variant	NM_000037.4(ANK1):c.*411C>G	Hereditary spherocytosis type 1 [RCV001159514]\|Spherocytosis [RCV001159515]	uncertain significance	8	41655379	41655379	Human	3	name , alternate_id
28907411	CV899557	single nucleotide variant	NM_000037.4(ANK1):c.*395T>A	Hereditary spherocytosis type 1 [RCV001159517]\|Spherocytosis [RCV001159516]	likely benign\|uncertain significance	8	41655395	41655395	Human	3	name , alternate_id
28907415	CV899558	single nucleotide variant	NM_000037.4(ANK1):c.*385G>T	Hereditary spherocytosis type 1 [RCV001159518]\|not provided [RCV004695016]	uncertain significance	8	41655405	41655405	Human	1	name , alternate_id
28907417	CV899559	single nucleotide variant	NM_000037.4(ANK1):c.*378T>G	Hereditary spherocytosis type 1 [RCV001159519]\|Spherocytosis [RCV001159520]	uncertain significance	8	41655412	41655412	Human	3	name , alternate_id
28907420	CV899560	single nucleotide variant	NM_000037.4(ANK1):c.*372T>C	Hereditary spherocytosis type 1 [RCV001159521]\|Spherocytosis [RCV001160895]	uncertain significance	8	41655418	41655418	Human	3	name , alternate_id
28909811	CV899561	single nucleotide variant	NM_000037.4(ANK1):c.*117G>A	Hereditary spherocytosis type 1 [RCV001160897]	uncertain significance	8	41655673	41655673	Human	1	name , alternate_id
41405155	CV981648	single nucleotide variant	NM_000037.4(ANK1):c.-204C>G	Hereditary spherocytosis type 1 [RCV001285464]\|not provided [RCV003426026]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41797742	41797742	Human	1	name , alternate_id
127288536	CV1152319	single nucleotide variant	NM_000037.4(ANK1):c.*2272C>G	not provided [RCV001508606]	uncertain significance	8	41653518	41653518	Human		name
150533603	CV1300885	single nucleotide variant	NM_000037.4(ANK1):c.*36+1G>A	not provided [RCV001754745]	uncertain significance	8	41661429	41661429	Human		name
150548148	CV1314171	single nucleotide variant	NM_000037.4(ANK1):c.712-2A>T	Hereditary spherocytosis type 1 [RCV001785924]	likely pathogenic	8	41723635	41723635	Human	1	name , alternate_id
155923762	CV2148657	single nucleotide variant	NM_000037.4(ANK1):c.129+1G>A	not provided [RCV003013312]	likely pathogenic	8	41758035	41758035	Human		name
243057897	CV2407818	single nucleotide variant	NM_000037.4(ANK1):c.612+1G>C	Hereditary spherocytosis type 1 [RCV003135640]	likely pathogenic	8	41725760	41725760	Human	1	name , alternate_id
243063334	CV2411674	single nucleotide variant	NM_000037.4(ANK1):c.711+3A>C	Hereditary spherocytosis type 1 [RCV003141397]	uncertain significance	8	41724453	41724453	Human	1	name , alternate_id
11545387	CV253136	single nucleotide variant	NM_000037.4(ANK1):c.909+7A>G	Hereditary spherocytosis type 1 [RCV000299497]\|Spherocytosis [RCV001165444]\|not provided [RCV001610718]\|not specified [RCV000245066]	benign\|likely benign	8	41723118	41723118	Human	3	name , alternate_id
404984182	CV2851546	single nucleotide variant	NM_000037.4(ANK1):c.613-1G>A	Hereditary spherocytosis type 1 [RCV003489297]	likely pathogenic	8	41724555	41724555	Human	1	name , alternate_id
404984316	CV2851573	single nucleotide variant	NM_000037.4(ANK1):c.810+1G>A	Hereditary spherocytosis type 1 [RCV003489324]\|not provided [RCV005100325]	likely pathogenic	8	41723534	41723534	Human	1	name , alternate_id
404984326	CV2851575	single nucleotide variant	NM_000037.4(ANK1):c.910-2A>G	Hereditary spherocytosis type 1 [RCV003489326]	likely pathogenic	8	41719860	41719860	Human	1	name , alternate_id
405094532	CV2947326	single nucleotide variant	NM_000037.4(ANK1):c.712-2A>G	not provided [RCV003665532]	likely pathogenic	8	41723635	41723635	Human		name
405197184	CV2976201	duplication	NM_000037.4(ANK1):c.129+2dup	not provided [RCV003677791]	uncertain significance	8	41758033	41758034	Human		name
11609348	CV305249	single nucleotide variant	NM_000037.4(ANK1):c.*1899G>A	Hereditary spherocytosis type 1 [RCV000366817]\|Spherocytosis [RCV001164226]\|not provided [RCV004707200]	benign\|likely benign	8	41653891	41653891	Human	3	name , alternate_id
11606488	CV305250	single nucleotide variant	NM_000037.4(ANK1):c.*1667T>A	Hereditary spherocytosis type 1 [RCV000332051]	likely benign	8	41654123	41654123	Human	1	name , alternate_id
11650170	CV305258	single nucleotide variant	NM_000037.4(ANK1):c.*1074A>G	Hereditary spherocytosis type 1 [RCV000291254]\|Spherocytosis [RCV001159409]	uncertain significance	8	41654716	41654716	Human	3	name , alternate_id
11654810	CV305260	single nucleotide variant	NM_000037.4(ANK1):c.*1062T>G	Hereditary spherocytosis type 1 [RCV000320809]\|Spherocytosis [RCV001159410]	uncertain significance	8	41654728	41654728	Human	3	name , alternate_id
11612336	CV305318	single nucleotide variant	NM_000037.4(ANK1):c.909+9T>C	Hereditary spherocytosis type 1 [RCV000407144]\|Spherocytosis [RCV001165443]\|not provided [RCV004696074]	uncertain significance	8	41723116	41723116	Human	3	name , alternate_id
405042277	CV3076810	single nucleotide variant	NM_000037.4(ANK1):c.810+5G>A	not provided [RCV003740014]	uncertain significance	8	41723530	41723530	Human		name
405061606	CV3081652	single nucleotide variant	NM_000037.4(ANK1):c.427-2A>G	Hereditary spherocytosis type 1 [RCV003741617]	likely pathogenic	8	41725948	41725948	Human	1	name , alternate_id
11603152	CV309065	single nucleotide variant	NM_000037.4(ANK1):c.*2152T>G	Hereditary spherocytosis type 1 [RCV000297098]\|Spherocytosis [RCV001164222]\|not provided [RCV004712581]	benign\|likely benign	8	41653638	41653638	Human	3	name , alternate_id
11598951	CV309068	single nucleotide variant	NM_000037.4(ANK1):c.*2022G>A	Hereditary spherocytosis type 1 [RCV000261700]\|Spherocytosis [RCV001164224]\|not provided [RCV004705466]	benign\|likely benign	8	41653768	41653768	Human	3	name , alternate_id
11651743	CV309070	single nucleotide variant	NM_000037.4(ANK1):c.*1952G>A	Hereditary spherocytosis type 1 [RCV000300555]\|Spherocytosis [RCV001164225]	uncertain significance	8	41653838	41653838	Human	3	name , alternate_id
405138457	CV3130798	single nucleotide variant	NM_000037.4(ANK1):c.28-17G>A	not provided [RCV003839032]	likely benign	8	41758154	41758154	Human		name
11652198	CV314271	single nucleotide variant	NM_000037.4(ANK1):c.*2342C>G	Hereditary spherocytosis type 1 [RCV000303495]\|Spherocytosis [RCV001160581]	uncertain significance	8	41653448	41653448	Human	3	name , alternate_id
11607329	CV314274	single nucleotide variant	NM_000037.4(ANK1):c.*2281C>T	Hereditary spherocytosis type 1 [RCV000342063]\|Spherocytosis [RCV001162196]	uncertain significance	8	41653509	41653509	Human	3	name , alternate_id
11608386	CV314286	single nucleotide variant	NM_000037.4(ANK1):c.*2123G>T	Hereditary spherocytosis type 1 [RCV000354283]\|Spherocytosis [RCV001164223]	uncertain significance	8	41653667	41653667	Human	3	name , alternate_id
11600531	CV314288	single nucleotide variant	NM_000037.4(ANK1):c.*1708G>C	Hereditary spherocytosis type 1 [RCV000274511]\|Spherocytosis [RCV001160688]\|not provided [RCV003311793]	likely benign\|uncertain significance	8	41654082	41654082	Human	3	name , alternate_id
11599886	CV314292	single nucleotide variant	NM_000037.4(ANK1):c.*1590G>A	Hereditary spherocytosis type 1 [RCV000269090]\|Spherocytosis [RCV001162300]	uncertain significance	8	41654200	41654200	Human	3	name , alternate_id
11662176	CV314293	single nucleotide variant	NM_000037.4(ANK1):c.*1242G>T	Hereditary spherocytosis type 1 [RCV000383515]\|Spherocytosis [RCV001159406]	uncertain significance	8	41654548	41654548	Human	3	name , alternate_id
11662936	CV314299	single nucleotide variant	NM_000037.4(ANK1):c.*2172C>A	Hereditary spherocytosis type 1 [RCV000390555]\|Spherocytosis [RCV001162197]	uncertain significance	8	41653618	41653618	Human	3	name , alternate_id
11609602	CV314300	single nucleotide variant	NM_000037.4(ANK1):c.*1609C>G	Hereditary spherocytosis type 1 [RCV000370331]\|Spherocytosis [RCV001162297]\|not provided [RCV004707201]	benign\|likely benign	8	41654181	41654181	Human	3	name , alternate_id
11606046	CV314328	single nucleotide variant	NM_000037.4(ANK1):c.*1402G>T	Hereditary spherocytosis type 1 [RCV000326563]\|Spherocytosis [RCV001164333]	benign\|likely benign\|uncertain significance	8	41654388	41654388	Human	3	name , alternate_id
405265859	CV3220891	single nucleotide variant	NM_000037.4(ANK1):c.327+5T>G	ANK1-related disorder [RCV003969055]	likely benign	8	41727903	41727903	Human		name , trait , alternate_id
596932374	CV3538994	single nucleotide variant	NM_000037.4(ANK1):c.328-9G>A	not provided [RCV004793120]	uncertain significance	8	41727357	41727357	Human		name
596930221	CV3540216	single nucleotide variant	NM_000037.4(ANK1):c.129+2T>G	not provided [RCV004792203]	likely pathogenic	8	41758034	41758034	Human		name
597921687	CV3765248	single nucleotide variant	NM_000037.4(ANK1):c.910-2A>T	not provided [RCV005115265]	likely pathogenic	8	41719860	41719860	Human		name
597923601	CV3863002	single nucleotide variant	NM_000037.4(ANK1):c.810+8C>T	not provided [RCV005205490]	likely benign	8	41723527	41723527	Human		name
598127495	CV3882700	single nucleotide variant	NM_000037.4(ANK1):c.129+5G>C	Hereditary spherocytosis type 1 [RCV005234230]	uncertain significance	8	41758031	41758031	Human	1	name , alternate_id
598127570	CV3882746	single nucleotide variant	NM_000037.4(ANK1):c.811-2A>G	Hereditary spherocytosis type 1 [RCV005234277]	likely pathogenic	8	41723225	41723225	Human	1	name , alternate_id
598215807	CV3891475	single nucleotide variant	NM_000037.4(ANK1):c.427-1G>A	Hereditary spherocytosis type 1 [RCV005252317]	pathogenic	8	41725947	41725947	Human	1	name , alternate_id
12894153	CV407382	single nucleotide variant	NM_000037.4(ANK1):c.328-2A>G	not provided [RCV000481719]	likely pathogenic	8	41727350	41727350	Human		name
28909385	CV899535	single nucleotide variant	NM_000037.4(ANK1):c.*2409C>T	Hereditary spherocytosis type 1 [RCV001160580]\|Spherocytosis [RCV001160579]	uncertain significance	8	41653381	41653381	Human	3	name , alternate_id
28907100	CV899536	single nucleotide variant	NM_000037.4(ANK1):c.*1892G>T	Hereditary spherocytosis type 1 [RCV001159317]\|Spherocytosis [RCV001159316]	uncertain significance	8	41653898	41653898	Human	3	name , alternate_id
28907103	CV899537	single nucleotide variant	NM_000037.4(ANK1):c.*1892G>A	Hereditary spherocytosis type 1 [RCV001159319]\|Spherocytosis [RCV001159318]	likely benign\|uncertain significance	8	41653898	41653898	Human	3	name , alternate_id
28907106	CV899538	single nucleotide variant	NM_000037.4(ANK1):c.*1884G>A	Hereditary spherocytosis type 1 [RCV001159320]\|Spherocytosis [RCV001159321]	uncertain significance	8	41653906	41653906	Human	3	name , alternate_id
28907111	CV899539	single nucleotide variant	NM_000037.4(ANK1):c.*1880C>A	Hereditary spherocytosis type 1 [RCV001160683]\|Spherocytosis [RCV001159322]	uncertain significance	8	41653910	41653910	Human	3	name , alternate_id
28909523	CV899540	single nucleotide variant	NM_000037.4(ANK1):c.*1858A>C	Hereditary spherocytosis type 1 [RCV001160684]\|Spherocytosis [RCV001160685]	uncertain significance	8	41653932	41653932	Human	3	name , alternate_id
28909526	CV899541	single nucleotide variant	NM_000037.4(ANK1):c.*1808A>G	Hereditary spherocytosis type 1 [RCV001160687]\|Spherocytosis [RCV001160686]	uncertain significance	8	41653982	41653982	Human	3	name , alternate_id
28868128	CV899542	single nucleotide variant	NM_000037.4(ANK1):c.*1603C>G	Hereditary spherocytosis type 1 [RCV001162298]\|Spherocytosis [RCV001162299]	uncertain significance	8	41654187	41654187	Human	3	name , alternate_id
28868130	CV899543	single nucleotide variant	NM_000037.4(ANK1):c.*1474C>T	Hereditary spherocytosis type 1 [RCV001162302]\|Spherocytosis [RCV001162301]	uncertain significance	8	41654316	41654316	Human	3	name , alternate_id
28872298	CV899544	single nucleotide variant	NM_000037.4(ANK1):c.*1424C>T	Hereditary spherocytosis type 1 [RCV001164329]\|Spherocytosis [RCV001164330]	uncertain significance	8	41654366	41654366	Human	3	name , alternate_id
28872300	CV899545	single nucleotide variant	NM_000037.4(ANK1):c.*1412G>A	Hereditary spherocytosis type 1 [RCV001164331]\|Spherocytosis [RCV001164332]	uncertain significance	8	41654378	41654378	Human	3	name , alternate_id
28872304	CV899546	single nucleotide variant	NM_000037.4(ANK1):c.*1250A>G	Hereditary spherocytosis type 1 [RCV001164335]\|Spherocytosis [RCV001164334]	uncertain significance	8	41654540	41654540	Human	3	name , alternate_id
28907242	CV899547	single nucleotide variant	NM_000037.4(ANK1):c.*1120T>C	Hereditary spherocytosis type 1 [RCV001159407]\|Spherocytosis [RCV001159408]	uncertain significance	8	41654670	41654670	Human	3	name , alternate_id
28909649	CV899548	single nucleotide variant	NM_000037.4(ANK1):c.*1031G>A	Hereditary spherocytosis type 1 [RCV001160778]\|Spherocytosis [RCV001160779]	uncertain significance	8	41654759	41654759	Human	3	name , alternate_id
28906175	CV900499	single nucleotide variant	NM_000037.4(ANK1):c.327+3A>G	Hereditary spherocytosis type 1 [RCV001158830]\|Spherocytosis [RCV001158831]\|not provided [RCV005093671]	uncertain significance	8	41727905	41727905	Human	3	name , alternate_id
127289616	CV1152331	single nucleotide variant	NM_000037.4(ANK1):c.2960+1G>A	Hereditary spherocytosis type 1 [RCV003132510]\|not provided [RCV001509341]	likely pathogenic	8	41696362	41696362	Human	1	name , alternate_id
127289629	CV1152335	single nucleotide variant	NM_000037.4(ANK1):c.2098-5T>C	Hereditary spherocytosis type 1 [RCV003490265]\|not provided [RCV001509345]	conflicting interpretations of pathogenicity\|uncertain significance	8	41704477	41704477	Human	1	name , alternate_id
127288050	CV1152343	single nucleotide variant	NM_000037.4(ANK1):c.909+24C>T	not provided [RCV001508246]	uncertain significance	8	41723101	41723101	Human		name
127288055	CV1152345	single nucleotide variant	NM_000037.4(ANK1):c.328-17C>T	not provided [RCV001508249]	uncertain significance	8	41727365	41727365	Human		name
150407493	CV1182392	single nucleotide variant	NM_000037.4(ANK1):c.909+36A>G	Hereditary spherocytosis type 1 [RCV001553993]\|not provided [RCV001685513]	benign	8	41723089	41723089	Human	1	name , alternate_id
150407496	CV1182393	single nucleotide variant	NM_000037.4(ANK1):c.229-47G>A	Hereditary spherocytosis type 1 [RCV001553994]\|not provided [RCV001713041]	benign	8	41728053	41728053	Human	1	name , alternate_id
150459879	CV1231246	single nucleotide variant	NM_000037.4(ANK1):c.612+77C>T	not provided [RCV001640810]	benign	8	41725684	41725684	Human		name
150460806	CV1234691	single nucleotide variant	NM_000037.4(ANK1):c.612+64G>A	not provided [RCV001649273]	benign	8	41725697	41725697	Human		name
150499679	CV1235770	single nucleotide variant	NM_000037.4(ANK1):c.327+42A>C	not provided [RCV001656453]	benign	8	41727866	41727866	Human		name
150470673	CV1258634	single nucleotide variant	NM_000037.4(ANK1):c.229-53C>T	not provided [RCV001684179]	benign	8	41728059	41728059	Human		name
150446385	CV1261356	single nucleotide variant	NM_000037.4(ANK1):c.229-55C>T	not provided [RCV001680030]	benign	8	41728061	41728061	Human		name
150495409	CV1272624	single nucleotide variant	NM_000037.4(ANK1):c.130-56G>A	not provided [RCV001688547]	benign	8	41734125	41734125	Human		name
150495486	CV1272644	single nucleotide variant	NM_000037.4(ANK1):c.*36+76C>G	not provided [RCV001688567]	benign	8	41661354	41661354	Human		name
150529682	CV1289361	single nucleotide variant	NM_000037.4(ANK1):c.3629+2T>C	Hereditary spherocytosis type 1 [RCV001728112]	pathogenic	8	41693103	41693103	Human	1	name , alternate_id
150520564	CV1290434	single nucleotide variant	NM_000037.4(ANK1):c.2098-1G>T	Hereditary spherocytosis type 1 [RCV001731172]	pathogenic	8	41704473	41704473	Human	1	name , alternate_id
150531971	CV1291706	single nucleotide variant	NM_000037.4(ANK1):c.1801-2A>T	not provided [RCV001733431]	likely pathogenic	8	41708977	41708977	Human		name
150548149	CV1314172	single nucleotide variant	NM_000037.4(ANK1):c.2961-2A>G	Hereditary spherocytosis type 1 [RCV001785925]\|not provided [RCV003481128]	pathogenic\|likely pathogenic	8	41695333	41695333	Human	1	name , alternate_id
150548159	CV1314181	single nucleotide variant	NM_000037.4(ANK1):c.2558+2T>C	Hereditary spherocytosis type 1 [RCV001785934]	likely pathogenic	8	41699450	41699450	Human	1	name , alternate_id
151349696	CV1321619	single nucleotide variant	NM_000037.4(ANK1):c.4538-6A>G	Hereditary spherocytosis type 1 [RCV001802603]	likely benign	8	41672918	41672918	Human	1	name , alternate_id
151349802	CV1321770	single nucleotide variant	NM_000037.4(ANK1):c.1702-2A>G	Hereditary spherocytosis type 1 [RCV001802754]	pathogenic\|likely pathogenic	8	41714256	41714256	Human	1	name , alternate_id
151835937	CV1347162	single nucleotide variant	NM_000037.4(ANK1):c.4390+1G>A	Hereditary spherocytosis type 1 [RCV003130683]\|not provided [RCV002031289]	likely pathogenic	8	41686151	41686151	Human	1	name , alternate_id
151758519	CV1391709	single nucleotide variant	NM_000037.4(ANK1):c.3116-9T>A	not provided [RCV002043999]	uncertain significance	8	41694812	41694812	Human		name
151848857	CV1453035	single nucleotide variant	NM_000037.4(ANK1):c.2961-1G>A	not provided [RCV002032895]	likely pathogenic	8	41695332	41695332	Human		name
8555662	CV15546	single nucleotide variant	NG_012820.2(ANK1):g.104117T>C	Hereditary spherocytosis type 1 [RCV000988052]\|SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000536]\|not provided [RCV003482222]\|not specified [RCV001777127]	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41797646	41797646	Human	1	name , alternate_id
8555664	CV15551	single nucleotide variant	NG_012820.2(ANK1):g.104072G>A	SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000541]\|not provided [RCV003430625]	pathogenic\|benign\|conflicting interpretations of pathogenicity	8	41797691	41797691	Human	1	name
152158678	CV1557248	single nucleotide variant	NM_000037.4(ANK1):c.1603-6C>T	not provided [RCV002203056]	likely benign	8	41715080	41715080	Human		name
155644211	CV1668580	single nucleotide variant	NM_000037.4(ANK1):c.1305+1G>A	Hereditary spherocytosis type 1 [RCV002291010]	pathogenic	8	41717603	41717603	Human	1	name , alternate_id
155644212	CV1668581	single nucleotide variant	NM_000037.4(ANK1):c.1405-9G>A	ANK1-related disorder [RCV003916392]\|Hereditary spherocytosis type 1 [RCV002291011]	likely pathogenic	8	41715858	41715858	Human	1	name , alternate_id
155644213	CV1668582	single nucleotide variant	NM_000037.4(ANK1):c.1602+1G>C	Hereditary spherocytosis type 1 [RCV002291012]	pathogenic	8	41715651	41715651	Human	1	name , alternate_id
155644214	CV1668583	single nucleotide variant	NM_000037.4(ANK1):c.3629+1G>C	Hereditary spherocytosis type 1 [RCV002291013]	pathogenic	8	41693104	41693104	Human	1	name , alternate_id
155268351	CV1701759	single nucleotide variant	NM_000037.4(ANK1):c.2389-8C>A	Hereditary spherocytosis type 1 [RCV002283990]	uncertain significance	8	41701630	41701630	Human	1	name , alternate_id
156061964	CV1868130	single nucleotide variant	NM_000037.4(ANK1):c.4105-1G>A	not provided [RCV003037293]	likely pathogenic	8	41688590	41688590	Human		name
156045270	CV2026567	single nucleotide variant	NM_000037.4(ANK1):c.4390+1G>C	not provided [RCV002736329]	likely pathogenic	8	41686151	41686151	Human		name
156253297	CV2041156	single nucleotide variant	NM_000037.4(ANK1):c.130-20C>T	not provided [RCV002806084]	likely benign	8	41734089	41734089	Human		name
155995104	CV2063978	single nucleotide variant	NM_000037.4(ANK1):c.3629+4A>T	not provided [RCV002843144]	uncertain significance	8	41693101	41693101	Human		name
156034240	CV2182384	single nucleotide variant	NM_000037.4(ANK1):c.2098-1G>A	not provided [RCV003036313]	likely pathogenic	8	41704473	41704473	Human		name
156448734	CV2402145	single nucleotide variant	NM_000037.4(ANK1):c.2296-2A>C	Hereditary spherocytosis type 1 [RCV003120304]	likely pathogenic	8	41702146	41702146	Human	1	name , alternate_id
243057841	CV2408083	single nucleotide variant	NM_000037.4(ANK1):c.5096+2T>G	Hereditary spherocytosis type 1 [RCV003133690]	likely pathogenic	8	41672352	41672352	Human	1	name , alternate_id
243052871	CV2410111	single nucleotide variant	NM_000037.4(ANK1):c.3859-2A>G	Hereditary spherocytosis type 1 [RCV003143997]	likely pathogenic	8	41690601	41690601	Human	1	name , alternate_id
243052031	CV2412471	single nucleotide variant	NM_000037.4(ANK1):c.2296-2A>G	Hereditary spherocytosis type 1 [RCV003130948]\|not provided [RCV004790482]	pathogenic\|likely pathogenic	8	41702146	41702146	Human	1	name , alternate_id
243059943	CV2412888	single nucleotide variant	NM_000037.4(ANK1):c.3533-2A>G	Hereditary spherocytosis type 1 [RCV003135524]\|not provided [RCV005099295]	pathogenic\|likely pathogenic	8	41693203	41693203	Human	1	name , alternate_id
243058429	CV2412992	single nucleotide variant	NM_000037.4(ANK1):c.4184-2A>G	Hereditary spherocytosis type 1 [RCV003134014]	likely pathogenic	8	41688232	41688232	Human	1	name , alternate_id
243058739	CV2413018	single nucleotide variant	NM_000037.4(ANK1):c.3630-1G>A	Hereditary spherocytosis type 1 [RCV003134029]	likely pathogenic	8	41692877	41692877	Human	1	name , alternate_id
243058679	CV2413129	single nucleotide variant	NM_000037.4(ANK1):c.4259-1G>T	Hereditary spherocytosis type 1 [RCV003134090]\|not provided [RCV003481451]	likely pathogenic\|uncertain significance	8	41686284	41686284	Human	1	name , alternate_id
11548215	CV253111	single nucleotide variant	NM_000037.4(ANK1):c.5479-3T>C	Hereditary spherocytosis type 1 [RCV000605964]\|Spherocytosis [RCV001159628]\|not provided [RCV001689902]\|not specified [RCV000248795]	benign\|likely benign	8	41661944	41661944	Human	4	name , alternate_id
11548980	CV253123	single nucleotide variant	NM_000037.4(ANK1):c.3115+8C>T	not provided [RCV003736682]\|not specified [RCV000249812]	likely benign	8	41695169	41695169	Human		name
11552223	CV253127	single nucleotide variant	NM_000037.4(ANK1):c.2196+6G>A	Hereditary spherocytosis type 1 [RCV001158389]\|Spherocytosis [RCV001158388]\|not provided [RCV000909219]\|not specified [RCV000254082]	benign\|likely benign\|uncertain significance	8	41704368	41704368	Human	3	name , alternate_id
11547709	CV253138	single nucleotide variant	NM_000037.4(ANK1):c.612+18G>C	Hereditary spherocytosis type 1 [RCV001001840]\|not provided [RCV001668571]\|not specified [RCV000248117]	benign	8	41725743	41725743	Human	1	name , alternate_id
11632557	CV264367	single nucleotide variant	NM_000037.4(ANK1):c.2736-1G>A	not provided [RCV000265707]	pathogenic	8	41696588	41696588	Human		name
401727275	CV2736269	single nucleotide variant	NM_000037.4(ANK1):c.2559-1G>A	not provided [RCV003312717]	pathogenic	8	41698122	41698122	Human		name
401830969	CV2748617	single nucleotide variant	NM_000037.4(ANK1):c.5096+1G>A	Hereditary spherocytosis type 1 [RCV003330267]	likely pathogenic	8	41672353	41672353	Human	1	name , alternate_id
401912489	CV2800580	single nucleotide variant	NM_000037.4(ANK1):c.4104+2T>G	ANK1-related disorder [RCV003399864]	likely pathogenic	8	41690225	41690225	Human		name , trait , alternate_id
401913496	CV2801614	single nucleotide variant	NM_000037.4(ANK1):c.2461+1G>A	ANK1-related disorder [RCV003400079]	likely pathogenic	8	41701549	41701549	Human		name , trait , alternate_id
401923983	CV2821056	single nucleotide variant	NM_000037.4(ANK1):c.3858+6A>C	not provided [RCV003435474]	likely benign	8	41692642	41692642	Human		name
401961720	CV2844042	single nucleotide variant	NM_000037.4(ANK1):c.1107+5G>C	not provided [RCV003481882]	uncertain significance	8	41719656	41719656	Human		name
404988544	CV2849602	single nucleotide variant	NM_000037.4(ANK1):c.1801-3C>G	Hereditary spherocytosis type 1 [RCV003490457]	uncertain significance	8	41708978	41708978	Human	1	name , alternate_id
404984202	CV2851550	single nucleotide variant	NM_000037.4(ANK1):c.2296-1G>A	Hereditary spherocytosis type 1 [RCV003489301]	likely pathogenic	8	41702145	41702145	Human	1	name , alternate_id
404984235	CV2851557	single nucleotide variant	NM_000037.4(ANK1):c.2389-2A>G	Hereditary spherocytosis type 1 [RCV003489308]	likely pathogenic	8	41701624	41701624	Human	1	name , alternate_id
404984242	CV2851558	single nucleotide variant	NM_000037.4(ANK1):c.4391-1G>C	Hereditary spherocytosis type 1 [RCV003489309]	likely pathogenic	8	41684691	41684691	Human	1	name , alternate_id
404987420	CV2916539	single nucleotide variant	NM_000037.4(ANK1):c.3984+1G>T	Hereditary spherocytosis type 1 [RCV003741360]\|not provided [RCV003569146]	pathogenic\|likely pathogenic	8	41690473	41690473	Human	1	name , alternate_id
402499639	CV2922908	single nucleotide variant	NM_000037.4(ANK1):c.5097-9G>A	not provided [RCV003573855]	uncertain significance	8	41668573	41668573	Human		name
405248086	CV2983954	single nucleotide variant	NM_000037.4(ANK1):c.2961-8T>C	not provided [RCV003685885]	likely benign	8	41695339	41695339	Human		name
405214015	CV2985132	single nucleotide variant	NM_000037.4(ANK1):c.3858+1G>A	not provided [RCV003709077]	likely pathogenic	8	41692647	41692647	Human		name
11606528	CV305291	single nucleotide variant	NM_000037.4(ANK1):c.3984+9A>G	Hereditary spherocytosis type 1 [RCV000331979]\|Spherocytosis [RCV001161249]\|not provided [RCV000897360]	likely benign\|uncertain significance	8	41690465	41690465	Human	3	name , alternate_id
11612396	CV305330	single nucleotide variant	NM_000037.4(ANK1):c.229-11A>G	Hereditary spherocytosis type 1 [RCV000407804]\|Spherocytosis [RCV001160174]\|not provided [RCV002523683]	likely benign\|uncertain significance	8	41728017	41728017	Human	3	name , alternate_id
405057007	CV3081282	single nucleotide variant	NM_000037.4(ANK1):c.1207-6T>C	Hereditary spherocytosis type 1 [RCV003741135]\|not provided [RCV005063157]	likely benign\|uncertain significance	8	41717708	41717708	Human	1	name , alternate_id
405057049	CV3081351	single nucleotide variant	NM_000037.4(ANK1):c.3858+4A>G	Hereditary spherocytosis type 1 [RCV003741140]	uncertain significance	8	41692644	41692644	Human	1	name , alternate_id
405057079	CV3081404	deletion	NM_000037.4(ANK1):c.1800+1del	Hereditary spherocytosis type 1 [RCV003741144]	pathogenic	8	41714155	41714155	Human	1	name , alternate_id
11604639	CV309110	single nucleotide variant	NM_000037.4(ANK1):c.3115+9G>A	Hereditary spherocytosis type 1 [RCV000311563]\|Spherocytosis [RCV001164984]\|not provided [RCV000971000]	benign\|likely benign\|uncertain significance	8	41695168	41695168	Human	3	name , alternate_id
11649144	CV314297	microsatellite	NM_000037.4(ANK1):c.*921TC[2]	Spherocytosis, Dominant [RCV000285567]	uncertain significance	8	41654864	41654865	Human		name
11607361	CV314411	single nucleotide variant	NM_000037.4(ANK1):c.2197-9A>G	Hereditary spherocytosis type 1 [RCV000342479]\|Spherocytosis [RCV001158387]	uncertain significance	8	41704148	41704148	Human	3	name , alternate_id
11598760	CV314417	single nucleotide variant	NM_000037.4(ANK1):c.711+13C>T	Hereditary spherocytosis type 1 [RCV000259672]\|Spherocytosis [RCV001158720]\|not provided [RCV003766090]	likely benign\|uncertain significance	8	41724443	41724443	Human	3	name , alternate_id
405279483	CV3217536	single nucleotide variant	NM_000037.4(ANK1):c.5545-9T>C	ANK1-related disorder [RCV003976926]\|Hereditary spherocytosis type 1 [RCV005230610]	likely benign	8	41661573	41661573	Human	1	name , alternate_id
407574671	CV3499685	single nucleotide variant	NM_000037.4(ANK1):c.1603-3C>A	Hereditary spherocytosis type 1 [RCV004720176]	uncertain significance	8	41715077	41715077	Human	1	name , alternate_id
408378140	CV3505042	single nucleotide variant	NM_000037.4(ANK1):c.1107+1G>T	ANK1-related disorder [RCV004727834]	likely pathogenic	8	41719660	41719660	Human		name , trait , alternate_id
408382830	CV3506076	single nucleotide variant	NM_000037.4(ANK1):c.5394+8C>T	ANK1-related disorder [RCV004730201]	likely benign	8	41668259	41668259	Human		name , trait , alternate_id
408374514	CV3516615	single nucleotide variant	NM_000037.4(ANK1):c.2559-4G>C	ANK1-related disorder [RCV004746811]	likely benign	8	41698125	41698125	Human		name , trait , alternate_id
596932365	CV3538985	single nucleotide variant	NM_000037.4(ANK1):c.4259-2A>C	not provided [RCV004793111]	uncertain significance	8	41686285	41686285	Human		name
596932366	CV3538986	single nucleotide variant	NM_000037.4(ANK1):c.4104+4A>G	not provided [RCV004793112]	uncertain significance	8	41690223	41690223	Human		name
596932367	CV3538987	single nucleotide variant	NM_000037.4(ANK1):c.3985-3T>G	not provided [RCV004793113]	uncertain significance	8	41690349	41690349	Human		name
596932368	CV3538988	single nucleotide variant	NM_000037.4(ANK1):c.1603-3C>G	not provided [RCV004793114]	uncertain significance	8	41715077	41715077	Human		name
596930205	CV3540210	single nucleotide variant	NM_000037.4(ANK1):c.2637+1G>T	not provided [RCV004792197]	likely pathogenic	8	41698042	41698042	Human		name
596930208	CV3540211	single nucleotide variant	NM_000037.4(ANK1):c.1998+1G>T	not provided [RCV004792198]	likely pathogenic	8	41708777	41708777	Human		name
597853332	CV3743377	single nucleotide variant	NM_000037.4(ANK1):c.129+17C>T	Hereditary spherocytosis type 1 [RCV005230831]\|not provided [RCV005060727]	likely benign	8	41758019	41758019	Human	1	name , alternate_id
597858160	CV3748237	single nucleotide variant	NM_000037.4(ANK1):c.910-11T>C	not provided [RCV005067059]	likely benign	8	41719869	41719869	Human		name
597857644	CV3755753	single nucleotide variant	NM_000037.4(ANK1):c.810+15G>C	not provided [RCV005088904]	likely benign	8	41723520	41723520	Human		name
597874410	CV3775488	single nucleotide variant	NM_000037.4(ANK1):c.2559-1G>T	not provided [RCV005123218]	likely pathogenic	8	41698122	41698122	Human		name
597869155	CV3784048	single nucleotide variant	NM_000037.4(ANK1):c.3984+6G>T	not provided [RCV005122352]	uncertain significance	8	41690468	41690468	Human		name
597917632	CV3789602	single nucleotide variant	NM_000037.4(ANK1):c.4184-1G>C	not provided [RCV005129697]	likely pathogenic	8	41688231	41688231	Human		name
597951872	CV3798439	single nucleotide variant	NM_000037.4(ANK1):c.2559-3C>G	not provided [RCV005136220]	uncertain significance	8	41698124	41698124	Human		name
597954185	CV3844362	single nucleotide variant	NM_000037.4(ANK1):c.3984+5C>T	not provided [RCV005191035]	uncertain significance	8	41690469	41690469	Human		name
597928232	CV3851754	single nucleotide variant	NM_000037.4(ANK1):c.1998+3A>C	not provided [RCV005206222]	uncertain significance	8	41708775	41708775	Human		name
597869293	CV3858416	single nucleotide variant	NM_000037.4(ANK1):c.3858+2T>A	not provided [RCV005197159]	pathogenic	8	41692646	41692646	Human		name
598125476	CV3881621	deletion	NM_000037.4(ANK1):c.2462-2del	not provided [RCV005232527]	pathogenic	8	41699550	41699550	Human		name
598127435	CV3882663	single nucleotide variant	NM_000037.4(ANK1):c.3859-9C>G	Hereditary spherocytosis type 1 [RCV005234193]	likely benign	8	41690608	41690608	Human	1	name , alternate_id
598127517	CV3882713	single nucleotide variant	NM_000037.4(ANK1):c.2559-5C>T	Hereditary spherocytosis type 1 [RCV005234244]	likely benign	8	41698126	41698126	Human	1	name , alternate_id
598127940	CV3882976	single nucleotide variant	NM_000037.4(ANK1):c.2296-5C>T	Hereditary spherocytosis type 1 [RCV005234509]	likely benign	8	41702149	41702149	Human	1	name , alternate_id
598128049	CV3883065	single nucleotide variant	NM_000037.4(ANK1):c.3116-2A>G	Hereditary spherocytosis type 1 [RCV005234598]	likely pathogenic	8	41694805	41694805	Human	1	name , alternate_id
598128176	CV3883196	single nucleotide variant	NM_000037.4(ANK1):c.4390+4A>G	Hereditary spherocytosis type 1 [RCV005234729]	uncertain significance	8	41686148	41686148	Human	1	name , alternate_id
617153034	CV4021008	single nucleotide variant	NM_000037.4(ANK1):c.2389-8C>T	not provided [RCV005428761]	uncertain significance	8	41701630	41701630	Human		name
13608852	CV535249	single nucleotide variant	NM_000037.4(ANK1):c.1702-2A>C	Hereditary spherocytosis type 1 [RCV000655897]	pathogenic	8	41714256	41714256	Human	1	name , alternate_id
15159915	CV730572	single nucleotide variant	NM_000037.4(ANK1):c.3115+9G>C	Hereditary spherocytosis type 1 [RCV005231933]\|not provided [RCV000881284]	benign	8	41695168	41695168	Human	1	name , alternate_id
15113332	CV730573	single nucleotide variant	NM_000037.4(ANK1):c.327+10C>T	not provided [RCV000894645]	likely benign	8	41727898	41727898	Human		name
15136392	CV779530	single nucleotide variant	NM_000037.4(ANK1):c.1702-4G>A	not provided [RCV000965447]	likely benign	8	41714258	41714258	Human		name
21069749	CV796172	single nucleotide variant	NM_000037.4(ANK1):c.1108-1G>T	not provided [RCV000999028]	likely pathogenic	8	41718205	41718205	Human		name
21405860	CV799545	single nucleotide variant	NM_000037.4(ANK1):c.1998+5G>A	Hereditary spherocytosis type 1 [RCV001001291]	uncertain significance	8	41708773	41708773	Human	1	name , alternate_id
28910087	CV900493	single nucleotide variant	NM_000037.4(ANK1):c.4390+9C>T	Hereditary spherocytosis type 1 [RCV001161137]\|Spherocytosis [RCV001161136]	uncertain significance	8	41686143	41686143	Human	3	name , alternate_id
28868770	CV900494	single nucleotide variant	NM_000037.4(ANK1):c.4183+4C>T	Hereditary spherocytosis type 1 [RCV001162698]\|Spherocytosis [RCV001162699]	uncertain significance	8	41688507	41688507	Human	3	name , alternate_id
28873161	CV900495	single nucleotide variant	NM_000037.4(ANK1):c.4105-5T>G	ANK1-related disorder [RCV003945886]\|Hereditary spherocytosis type 1 [RCV001164754]\|Spherocytosis [RCV001164755]\|not provided [RCV002557409]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41688594	41688594	Human	3	name , alternate_id
38463067	CV959892	single nucleotide variant	NM_000037.4(ANK1):c.1405-2A>G	not provided [RCV001229794]	likely pathogenic	8	41715851	41715851	Human		name
41405514	CV981626	single nucleotide variant	NM_000037.4(ANK1):c.3984+2T>C	ANK1-related disorder [RCV004727076]\|Hereditary spherocytosis type 1 [RCV001286718]\|not provided [RCV002537948]	pathogenic\|likely pathogenic	8	41690472	41690472	Human	1	name , alternate_id
41405908	CV981636	single nucleotide variant	NM_000037.4(ANK1):c.2389-1G>A	Hereditary spherocytosis type 1 [RCV001287845]	pathogenic	8	41701623	41701623	Human	1	name , alternate_id
41405576	CV981641	single nucleotide variant	NM_000037.4(ANK1):c.1800+3A>T	Hereditary spherocytosis type 1 [RCV001286849]	uncertain significance	8	41714153	41714153	Human	1	name , alternate_id
127288541	CV1152321	single nucleotide variant	NM_000037.4(ANK1):c.5545-72T>G	not provided [RCV001508608]	uncertain significance	8	41661636	41661636	Human		name
127289627	CV1152334	single nucleotide variant	NM_000037.4(ANK1):c.2197-17G>A	Hereditary spherocytosis type 1 [RCV001803333]\|not provided [RCV001509344]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41704156	41704156	Human	1	name , alternate_id
150339430	CV1167440	single nucleotide variant	NM_000037.4(ANK1):c.*37-259A>G	not provided [RCV001534228]	benign	8	41656012	41656012	Human		name
150336113	CV1171851	single nucleotide variant	NM_000037.4(ANK1):c.2960+46C>T	not provided [RCV001540846]	benign	8	41696317	41696317	Human		name
150407489	CV1182391	single nucleotide variant	NM_000037.4(ANK1):c.4538-52G>C	Hereditary spherocytosis type 1 [RCV001553992]\|not provided [RCV001615310]	benign	8	41672964	41672964	Human	1	name , alternate_id
150407500	CV1182394	single nucleotide variant	NM_000037.4(ANK1):c.129+125C>T	Hereditary spherocytosis type 1 [RCV001553995]\|not provided [RCV001694100]	benign	8	41757911	41757911	Human	1	name , alternate_id
150512945	CV1213052	single nucleotide variant	NM_000037.4(ANK1):c.1702-30G>C	not provided [RCV001598285]	benign	8	41714284	41714284	Human		name
150449721	CV1215146	single nucleotide variant	NM_000037.4(ANK1):c.427-250A>G	not provided [RCV001611736]	benign	8	41726196	41726196	Human		name
150461134	CV1215768	deletion	NM_000037.4(ANK1):c.1108-28del	not provided [RCV001613470]	benign	8	41718232	41718232	Human		name
150503173	CV1223401	single nucleotide variant	NM_000037.4(ANK1):c.910-147G>A	not provided [RCV001621336]	benign	8	41720005	41720005	Human		name
150500565	CV1224815	single nucleotide variant	NM_000037.4(ANK1):c.*37-267A>G	not provided [RCV001620647]	benign	8	41656020	41656020	Human		name
150494594	CV1224926	single nucleotide variant	NM_000037.4(ANK1):c.3859-90G>A	not provided [RCV001619404]	benign	8	41690689	41690689	Human		name
150516831	CV1227270	single nucleotide variant	NM_000037.4(ANK1):c.*37-181G>A	not provided [RCV001639370]	benign	8	41655934	41655934	Human		name
150445254	CV1233146	single nucleotide variant	NM_000037.4(ANK1):c.*36+233G>A	not provided [RCV001645819]	benign	8	41661197	41661197	Human		name
150461193	CV1234747	single nucleotide variant	NM_000037.4(ANK1):c.1107+58G>C	not provided [RCV001649329]	benign	8	41719603	41719603	Human		name
150498793	CV1235625	single nucleotide variant	NM_000037.4(ANK1):c.712-166A>T	not provided [RCV001656308]	benign	8	41723799	41723799	Human		name
150437988	CV1237962	single nucleotide variant	NM_000037.4(ANK1):c.2559-97G>A	not provided [RCV001644460]	benign	8	41698218	41698218	Human		name
150484908	CV1250120	single nucleotide variant	NM_000037.4(ANK1):c.228+215C>T	not provided [RCV001673733]	benign	8	41733756	41733756	Human		name
150460226	CV1253073	single nucleotide variant	NM_000037.4(ANK1):c.711+256T>A	not provided [RCV001669402]	benign	8	41724200	41724200	Human		name
150466783	CV1255796	single nucleotide variant	NM_000037.4(ANK1):c.712-136A>G	not provided [RCV001670430]	benign	8	41723769	41723769	Human		name
150472358	CV1259281	single nucleotide variant	NM_000037.4(ANK1):c.910-119A>G	not provided [RCV001684527]	benign	8	41719977	41719977	Human		name
150487390	CV1262732	single nucleotide variant	NM_000037.4(ANK1):c.4258+33T>C	not provided [RCV001687130]	benign	8	41688123	41688123	Human		name
150484450	CV1263181	single nucleotide variant	NM_001142446.2(ANK1):c.-207C>G	not provided [RCV001686581]	benign	8	41896687	41896687	Human		name
150489062	CV1265350	single nucleotide variant	NM_000037.4(ANK1):c.810+147C>T	not provided [RCV001687386]	benign	8	41723388	41723388	Human		name
150493597	CV1267179	single nucleotide variant	NM_000037.4(ANK1):c.3859-92G>A	not provided [RCV001688207]	benign	8	41690691	41690691	Human		name
150491086	CV1267719	single nucleotide variant	NM_000037.4(ANK1):c.4104+62A>G	not provided [RCV001687743]	benign	8	41690165	41690165	Human		name
150465284	CV1268584	single nucleotide variant	NM_000037.4(ANK1):c.4104+85C>T	not provided [RCV001694280]	benign	8	41690142	41690142	Human		name
150498099	CV1271453	single nucleotide variant	NM_001142446.2(ANK1):c.-129C>T	not provided [RCV001689143]	benign	8	41896609	41896609	Human		name
150476879	CV1271965	single nucleotide variant	NM_000037.4(ANK1):c.4391-49C>T	not provided [RCV001696250]	benign	8	41684739	41684739	Human		name
150448648	CV1275569	single nucleotide variant	NM_000037.4(ANK1):c.2637+88A>G	not provided [RCV001708024]	benign	8	41697955	41697955	Human		name
150444544	CV1278010	deletion	NM_000037.4(ANK1):c.2389-45del	not provided [RCV001707153]	benign	8	41701667	41701667	Human		name
150482245	CV1279939	single nucleotide variant	NM_000037.4(ANK1):c.1702-54G>C	not provided [RCV001714992]	benign	8	41714308	41714308	Human		name
150512192	CV1284886	deletion	NM_000037.4(ANK1):c.3630-73del	not provided [RCV001721755]	benign	8	41692949	41692949	Human		name
151349902	CV1321162	single nucleotide variant	NM_000037.4(ANK1):c.1305+21G>A	Hereditary spherocytosis type 1 [RCV001803575]	likely benign	8	41717583	41717583	Human	1	name , alternate_id
151349915	CV1321182	single nucleotide variant	NM_000037.4(ANK1):c.1602+18G>A	Hereditary spherocytosis type 1 [RCV001803595]	likely benign	8	41715634	41715634	Human	1	name , alternate_id
151349721	CV1321652	single nucleotide variant	NM_000037.4(ANK1):c.1999-17C>T	Hereditary spherocytosis type 1 [RCV001802636]\|not provided [RCV002074169]	benign\|likely benign	8	41706258	41706258	Human	1	name , alternate_id
151760219	CV1499992	single nucleotide variant	NM_000037.4(ANK1):c.3328-13T>A	not provided [RCV001895221]	uncertain significance	8	41694115	41694115	Human		name
8555663	CV15547	deletion	NM_000037.4(ANK1):c.-73_-72del	SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000537]	pathogenic	8	41797610	41797611	Human	1	name
8555665	CV15552	single nucleotide variant	NM_000037.4(ANK1):c.1801-17G>A	Hereditary spherocytosis type 1 [RCV000655898]\|SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000542]\|not provided [RCV001091597]	pathogenic\|likely pathogenic	8	41708992	41708992	Human	1	name , alternate_id
152085922	CV1608269	single nucleotide variant	NM_000037.4(ANK1):c.1801-18C>T	not provided [RCV002212039]	likely benign	8	41708993	41708993	Human		name
152036977	CV1646188	single nucleotide variant	NM_000037.4(ANK1):c.1999-18A>G	not provided [RCV002205753]	likely benign	8	41706259	41706259	Human		name
152145667	CV1649398	single nucleotide variant	NM_000037.4(ANK1):c.3327+19G>T	Hereditary spherocytosis type 1 [RCV003741293]\|not provided [RCV002121000]	likely benign	8	41694573	41694573	Human	1	name , alternate_id
153303691	CV1686419	single nucleotide variant	NM_000037.4(ANK1):c.2462-26G>A	not provided [RCV002261852]	uncertain significance	8	41699574	41699574	Human		name
156325057	CV2032412	single nucleotide variant	NM_000037.4(ANK1):c.2196+12C>A	not provided [RCV002717357]	likely benign	8	41704362	41704362	Human		name
155998500	CV2106615	single nucleotide variant	NM_000037.4(ANK1):c.3532+10G>A	not provided [RCV002947673]	likely benign	8	41693888	41693888	Human		name
156209937	CV2160418	deletion	NM_000037.4(ANK1):c.5544+11del	not provided [RCV003042291]	uncertain significance	8	41661865	41661865	Human		name
156448715	CV2402125	single nucleotide variant	NM_000037.4(ANK1):c.3984+10C>T	Hereditary spherocytosis type 1 [RCV003120284]	likely benign	8	41690464	41690464	Human	1	name , alternate_id
156448767	CV2402178	single nucleotide variant	NM_000037.4(ANK1):c.2461+20C>T	Hereditary spherocytosis type 1 [RCV003120337]	likely benign	8	41701530	41701530	Human	1	name , alternate_id
243059518	CV2406329	single nucleotide variant	NM_000037.4(ANK1):c.5097-33G>A	Hereditary spherocytosis type 1 [RCV003135006]	pathogenic	8	41668597	41668597	Human	1	name , alternate_id
11551852	CV253110	single nucleotide variant	NM_000037.4(ANK1):c.5544+91C>T	Hereditary spherocytosis type 1 [RCV000988051]\|not provided [RCV001508609]\|not specified [RCV000253589]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41661785	41661785	Human	1	name , alternate_id
11550488	CV253113	single nucleotide variant	NM_000037.4(ANK1):c.5096+16T>C	Hereditary spherocytosis type 1 [RCV000615666]\|not provided [RCV001689901]\|not specified [RCV000251821]	benign	8	41672338	41672338	Human	1	name , alternate_id
11547120	CV253116	single nucleotide variant	NM_000037.4(ANK1):c.4390+16C>T	not specified [RCV000247347]	likely benign	8	41686136	41686136	Human		name
11545680	CV253124	single nucleotide variant	NM_000037.4(ANK1):c.2960+13G>T	Hereditary spherocytosis type 1 [RCV000270233]\|Spherocytosis [RCV001160078]\|not provided [RCV003765541]\|not specified [RCV000245467]	likely benign\|uncertain significance	8	41696350	41696350	Human	3	name , alternate_id
404988472	CV2849590	duplication	NM_000037.4(ANK1):c.28-6_29dup	Hereditary spherocytosis type 1 [RCV003490445]\|not provided [RCV004790571]	likely pathogenic\|uncertain significance	8	41758135	41758136	Human	1	name , alternate_id
405240938	CV2905068	single nucleotide variant	NM_000037.4(ANK1):c.1801-18C>A	not provided [RCV003557393]	uncertain significance	8	41708993	41708993	Human		name
405185515	CV2963893	single nucleotide variant	NM_000037.4(ANK1):c.5544+15G>T	not provided [RCV003676711]	likely benign	8	41661861	41661861	Human		name
405056989	CV3081263	single nucleotide variant	NM_000037.4(ANK1):c.3115+18C>T	Hereditary spherocytosis type 1 [RCV003741133]	likely benign	8	41695159	41695159	Human	1	name , alternate_id
405061593	CV3081589	single nucleotide variant	NM_000037.4(ANK1):c.4391-18T>C	Hereditary spherocytosis type 1 [RCV003741615]	likely benign	8	41684708	41684708	Human	1	name , alternate_id
11635398	CV309074	microsatellite	NM_000037.4(ANK1):c.*637AC[13]	Spherocytosis, Dominant [RCV000338462]	uncertain significance	8	41655129	41655130	Human		name
11603678	CV309084	single nucleotide variant	NM_000037.4(ANK1):c.4259-13T>C	Hereditary spherocytosis type 1 [RCV000302251]\|Spherocytosis [RCV001162697]\|not provided [RCV001509335]	uncertain significance	8	41686296	41686296	Human	3	name , alternate_id
11601886	CV309154	single nucleotide variant	NM_000037.4(ANK1):c.1404+15C>T	Hereditary spherocytosis type 1 [RCV000286003]\|Spherocytosis [RCV001163229]\|not provided [RCV001508242]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41716938	41716938	Human	3	name , alternate_id
405130554	CV3115021	single nucleotide variant	NM_000037.4(ANK1):c.1602+12C>T	not provided [RCV003815866]	likely benign	8	41715640	41715640	Human		name
405114180	CV3115401	single nucleotide variant	NM_000037.4(ANK1):c.3532+20C>T	not provided [RCV003814083]	likely benign	8	41693878	41693878	Human		name
405211729	CV3117811	single nucleotide variant	NM_000037.4(ANK1):c.1998+20A>T	not provided [RCV003823410]	likely benign	8	41708758	41708758	Human		name
405185709	CV3124301	single nucleotide variant	NM_000037.4(ANK1):c.2558+15C>T	not provided [RCV003820500]	likely benign	8	41699437	41699437	Human		name
405132028	CV3133511	single nucleotide variant	NM_000037.4(ANK1):c.4104+18G>A	Hereditary spherocytosis type 1 [RCV005230587]\|not provided [RCV003838481]	likely benign	8	41690209	41690209	Human	1	name , alternate_id
405052023	CV3138336	single nucleotide variant	NM_000037.4(ANK1):c.2296-18G>T	not provided [RCV003832180]	likely benign	8	41702162	41702162	Human		name
405225532	CV3142378	single nucleotide variant	NM_000037.4(ANK1):c.1602+17C>T	not provided [RCV003847917]	likely benign	8	41715635	41715635	Human		name
11604804	CV314318	microsatellite	NM_000037.4(ANK1):c.*637AC[11]	Spherocytosis, Dominant [RCV000312826]	likely benign	8	41655130	41655131	Human		name
11635789	CV314321	microsatellite	NM_000037.4(ANK1):c.*637AC[14]	Spherocytosis, Dominant [RCV000391716]	uncertain significance	8	41655129	41655130	Human		name
11662356	CV314372	single nucleotide variant	NM_000037.4(ANK1):c.3985-10T>C	Hereditary spherocytosis type 1 [RCV000385452]\|Spherocytosis [RCV001161247]	uncertain significance	8	41690356	41690356	Human	3	name , alternate_id
11610603	CV314374	single nucleotide variant	NM_000037.4(ANK1):c.3533-10G>A	Hereditary spherocytosis type 1 [RCV000383443]\|Spherocytosis [RCV001159956]\|not provided [RCV000902626]	likely benign\|uncertain significance	8	41693211	41693211	Human	3	name , alternate_id
11600565	CV314386	single nucleotide variant	NM_000037.4(ANK1):c.3984+12C>T	Hereditary spherocytosis type 1 [RCV000274712]\|Spherocytosis [RCV001161248]\|not provided [RCV003766089]	likely benign\|uncertain significance	8	41690462	41690462	Human	3	name , alternate_id
11602514	CV314407	single nucleotide variant	NM_000037.4(ANK1):c.3532+13C>A	Hereditary spherocytosis type 1 [RCV000291339]\|Spherocytosis [RCV001159957]\|not provided [RCV002524562]	benign\|likely benign\|uncertain significance	8	41693885	41693885	Human	3	name , alternate_id
11600740	CV314409	single nucleotide variant	NM_000037.4(ANK1):c.2735+10G>A	Hereditary spherocytosis type 1 [RCV000276024]\|Spherocytosis [RCV001163011]\|not provided [RCV000905094]	benign\|likely benign\|uncertain significance	8	41696666	41696666	Human	3	name , alternate_id
11603711	CV314412	single nucleotide variant	NM_000037.4(ANK1):c.2097+15C>T	Hereditary spherocytosis type 1 [RCV000302556]\|Spherocytosis [RCV001161594]\|not provided [RCV002524564]	benign\|likely benign\|uncertain significance	8	41706128	41706128	Human	3	name , alternate_id
405001595	CV3184056	single nucleotide variant	NM_000037.4(ANK1):c.1998+18G>A	not provided [RCV003882639]	likely benign	8	41708760	41708760	Human		name
405277077	CV3198771	single nucleotide variant	NM_000037.4(ANK1):c.5097-30C>T	ANK1-related disorder [RCV003904095]	benign	8	41668594	41668594	Human		name , trait , alternate_id
596930219	CV3540215	deletion	NM_000037.4(ANK1):c.428_431del	not provided [RCV004792202]	likely pathogenic	8	41725942	41725945	Human		name
596947217	CV3548767	single nucleotide variant	NM_000037.4(ANK1):c.5544+69C>T	not provided [RCV004811091]	likely benign	8	41661807	41661807	Human		name
597886978	CV3741877	single nucleotide variant	NM_000037.4(ANK1):c.1107+19G>A	not provided [RCV005070597]	likely benign	8	41719642	41719642	Human		name
597844855	CV3752675	single nucleotide variant	NM_000037.4(ANK1):c.2961-11C>T	not provided [RCV005087081]	benign	8	41695342	41695342	Human		name
598128014	CV3883030	single nucleotide variant	NM_000037.4(ANK1):c.1800+13C>T	Hereditary spherocytosis type 1 [RCV005234563]	likely benign	8	41714143	41714143	Human	1	name , alternate_id
598128015	CV3883031	single nucleotide variant	NM_000037.4(ANK1):c.5544+85C>T	Hereditary spherocytosis type 1 [RCV005234564]	likely benign	8	41661791	41661791	Human	1	name , alternate_id
598128018	CV3883034	single nucleotide variant	NM_000037.4(ANK1):c.3984+10C>G	Hereditary spherocytosis type 1 [RCV005234567]	likely benign	8	41690464	41690464	Human	1	name , alternate_id
15177436	CV730568	single nucleotide variant	NM_000037.4(ANK1):c.5544+79C>T	Hereditary spherocytosis type 1 [RCV005231936]\|not provided [RCV000884821]	benign\|likely benign	8	41661797	41661797	Human	1	name , alternate_id
15179633	CV730569	single nucleotide variant	NM_000037.4(ANK1):c.5544+59T>A	not provided [RCV000885335]	likely benign	8	41661817	41661817	Human		name
15128353	CV775249	single nucleotide variant	NM_000037.4(ANK1):c.2389-10C>T	Hereditary spherocytosis type 1 [RCV001199186]\|not provided [RCV000941704]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41701632	41701632	Human	1	name , alternate_id
15174714	CV779316	single nucleotide variant	NM_000037.4(ANK1):c.5544+46G>A	Hereditary spherocytosis type 1 [RCV001803179]\|not provided [RCV000972775]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	41661830	41661830	Human	1	name , alternate_id
21071718	CV790800	duplication	NM_000037.4(ANK1):c.*36+989dup	Hereditary spherocytosis type 1 [RCV000988050]	benign	8	41660439	41660440	Human	1	name , alternate_id
21405596	CV799539	single nucleotide variant	NM_000037.4(ANK1):c.5479-17T>C	Hereditary spherocytosis type 1 [RCV001000824]\|not provided [RCV002068760]	benign\|uncertain significance	8	41661958	41661958	Human	1	name , alternate_id
28873165	CV900496	single nucleotide variant	NM_000037.4(ANK1):c.4104+12C>T	Hereditary spherocytosis type 1 [RCV001164757]\|Spherocytosis [RCV001164756]	uncertain significance	8	41690215	41690215	Human	3	name , alternate_id
28908153	CV900497	single nucleotide variant	NM_000037.4(ANK1):c.3532+10G>T	Hereditary spherocytosis type 1 [RCV001159958]\|Spherocytosis [RCV001161360]	uncertain significance	8	41693888	41693888	Human	3	name , alternate_id
28869758	CV900498	single nucleotide variant	NM_000037.4(ANK1):c.1404+15C>A	Hereditary spherocytosis type 1 [RCV001163230]\|Spherocytosis [RCV001163231]	uncertain significance	8	41716938	41716938	Human	3	name , alternate_id
40816147	CV967231	single nucleotide variant	NM_000037.4(ANK1):c.5097-34C>T	ANK1-related disorder [RCV003908479]\|Hereditary spherocytosis type 1 [RCV001258261]\|not provided [RCV003433097]	benign\|likely benign	8	41668598	41668598	Human	1	name , alternate_id
41407383	CV981629	single nucleotide variant	NM_000037.4(ANK1):c.3327+21C>G	Hereditary spherocytosis type 1 [RCV001289728]\|not provided [RCV001615151]	benign	8	41694571	41694571	Human	1	name , alternate_id
41407382	CV981637	single nucleotide variant	NM_000037.4(ANK1):c.2296-20C>T	Hereditary spherocytosis type 1 [RCV001289727]\|not provided [RCV002070105]	benign	8	41702164	41702164	Human	1	name , alternate_id
150474599	CV1217826	single nucleotide variant	NM_000037.4(ANK1):c.5394+197G>A	not provided [RCV001615837]	benign	8	41668070	41668070	Human		name
150456384	CV1219479	single nucleotide variant	NM_000037.4(ANK1):c.2559-101T>C	not provided [RCV001612694]	benign	8	41698222	41698222	Human		name
150503572	CV1223777	single nucleotide variant	NM_000037.4(ANK1):c.2461+799A>C	not provided [RCV001621426]	benign	8	41700751	41700751	Human		name
150513922	CV1227967	single nucleotide variant	NM_000037.4(ANK1):c.1702-133A>C	not provided [RCV001638245]	benign	8	41714387	41714387	Human		name
150434245	CV1230741	single nucleotide variant	NM_000037.4(ANK1):c.3116-122C>T	not provided [RCV001643687]	benign	8	41694925	41694925	Human		name
150450786	CV1232719	single nucleotide variant	NM_000037.4(ANK1):c.4105-287C>T	not provided [RCV001647794]	benign	8	41688876	41688876	Human		name
150455921	CV1236812	single nucleotide variant	NM_000037.4(ANK1):c.2559-165T>C	not provided [RCV001648548]	benign	8	41698286	41698286	Human		name
150487244	CV1237301	single nucleotide variant	NM_000037.4(ANK1):c.2559-171G>A	not provided [RCV001654150]	benign	8	41698292	41698292	Human		name
150479123	CV1239331	single nucleotide variant	NM_000037.4(ANK1):c.1405-121C>T	not provided [RCV001652493]	benign	8	41715970	41715970	Human		name
150502516	CV1241580	single nucleotide variant	NM_000037.4(ANK1):c.4104+171T>C	not provided [RCV001657171]	benign	8	41690056	41690056	Human		name
150484032	CV1247054	single nucleotide variant	NM_000037.4(ANK1):c.3858+295C>T	not provided [RCV001673550]	benign	8	41692353	41692353	Human		name
150447264	CV1250803	single nucleotide variant	NM_000037.4(ANK1):c.5544+146A>G	not provided [RCV001667308]	benign	8	41661730	41661730	Human	1	name
150462152	CV1253332	single nucleotide variant	NM_000037.4(ANK1):c.1206+185C>T	not provided [RCV001669661]	benign	8	41717921	41717921	Human		name
150478290	CV1257122	single nucleotide variant	NM_000037.4(ANK1):c.1702-191T>A	not provided [RCV001672352]	benign	8	41714445	41714445	Human		name
150472244	CV1259261	single nucleotide variant	NM_000037.4(ANK1):c.2637+188C>T	not provided [RCV001684507]	benign	8	41697855	41697855	Human		name
150476741	CV1262402	single nucleotide variant	NM_000037.4(ANK1):c.4537+321T>C	not provided [RCV001685214]	benign	8	41684223	41684223	Human		name
150477540	CV1262517	single nucleotide variant	NM_000037.4(ANK1):c.1107+165T>C	not provided [RCV001685330]	benign	8	41719496	41719496	Human		name
150476474	CV1263648	single nucleotide variant	NM_000037.4(ANK1):c.1306-167T>G	not provided [RCV001685171]	benign	8	41717218	41717218	Human		name
150460595	CV1264197	single nucleotide variant	NM_000037.4(ANK1):c.2558+128G>A	not provided [RCV001682113]	benign	8	41699324	41699324	Human		name
150439457	CV1264970	single nucleotide variant	NM_000037.4(ANK1):c.3859-195G>A	not provided [RCV001678963]	benign	8	41690794	41690794	Human		name
150490342	CV1267594	single nucleotide variant	NM_000037.4(ANK1):c.1207-200T>G	not provided [RCV001687618]	benign	8	41717902	41717902	Human		name
150492863	CV1268324	single nucleotide variant	NM_000037.4(ANK1):c.3328-108C>T	not provided [RCV001688056]	benign	8	41694210	41694210	Human		name
150457787	CV1269540	single nucleotide variant	NM_000037.4(ANK1):c.5097-147C>A	not provided [RCV001693080]	benign	8	41668711	41668711	Human		name
150448251	CV1270434	single nucleotide variant	NM_000037.4(ANK1):c.5395-209G>C	not provided [RCV001691571]	benign	8	41663951	41663951	Human		name
150473384	CV1272161	duplication	NM_000037.4(ANK1):c.5479-326dup	not provided [RCV001695699]	benign	8	41662256	41662257	Human		name
150474465	CV1272340	single nucleotide variant	NM_000037.4(ANK1):c.1800+241G>A	not provided [RCV001695878]	benign	8	41713915	41713915	Human		name
150464757	CV1276468	single nucleotide variant	NM_000037.4(ANK1):c.1404+181G>A	not provided [RCV001710414]	benign	8	41716772	41716772	Human		name
150451484	CV1276602	single nucleotide variant	NM_000037.4(ANK1):c.2295+176C>T	not provided [RCV001708391]	benign	8	41703865	41703865	Human		name
150454025	CV1276930	single nucleotide variant	NM_000037.4(ANK1):c.3859-318G>A	not provided [RCV001708721]	benign	8	41690917	41690917	Human		name
150475755	CV1279121	single nucleotide variant	NM_000037.4(ANK1):c.5394+285C>G	not provided [RCV001713886]	benign	8	41667982	41667982	Human		name
150490177	CV1279521	single nucleotide variant	NM_000037.4(ANK1):c.2637+195A>G	not provided [RCV001716423]	benign	8	41697848	41697848	Human		name
150491083	CV1280141	single nucleotide variant	NM_000037.4(ANK1):c.1701+109T>C	not provided [RCV001716583]	benign	8	41714867	41714867	Human		name
150437344	CV1286530	single nucleotide variant	NM_000037.4(ANK1):c.2461+170A>C	not provided [RCV001724609]	benign	8	41701380	41701380	Human		name
598124042	CV3884058	deletion	NM_000037.4(ANK1):c.25_27+16del	Spherocytosis [RCV005234869]	likely pathogenic	8	41797496	41797514	Human	2	name
150428883	CV1187348	microsatellite	NM_000037.4(ANK1):c.2390_2393del	ANK1-related disorder [RCV004746425]\|Hereditary spherocytosis type 1 [RCV002501908]\|not provided [RCV001562855]	pathogenic	8	41701618	41701621	Human		name , alternate_id
150462990	CV1234992	single nucleotide variant	NM_000037.4(ANK1):c.5395-1731T>C	not provided [RCV001649574]	benign	8	41665473	41665473	Human		name
150484070	CV1263101	single nucleotide variant	NM_001142446.2(ANK1):c.126+30G>C	not provided [RCV001686501]	benign	8	41896325	41896325	Human		name
151349595	CV1321441	single nucleotide variant	NM_000037.4(ANK1):c.5395-1157A>T	Hereditary spherocytosis type 1 [RCV001802422]	uncertain significance	8	41664899	41664899	Human	1	name , alternate_id
401911476	CV2800317	single nucleotide variant	NM_000037.4(ANK1):c.5395-1094C>T	ANK1-related disorder [RCV003399556]	uncertain significance	8	41664836	41664836	Human		name , trait , alternate_id
401923980	CV2821053	single nucleotide variant	NM_000037.4(ANK1):c.5395-1222C>T	not provided [RCV003435472]	likely benign	8	41664964	41664964	Human		name
405056979	CV3081261	single nucleotide variant	NM_000037.4(ANK1):c.5395-1286C>T	ANK1-related disorder [RCV003929345]\|Hereditary spherocytosis type 1 [RCV003741132]	benign	8	41665028	41665028	Human	1	name , alternate_id
11635795	CV314308	duplication	NM_000037.4(ANK1):c.714_727dup	Spherocytosis, Dominant [RCV000391721]	uncertain significance	8	41655062	41655063	Human	1	name
405261673	CV3186226	single nucleotide variant	NM_000037.4(ANK1):c.5395-1209G>A	not provided [RCV003885302]	uncertain significance	8	41664951	41664951	Human		name
405701162	CV3225945	single nucleotide variant	NM_000037.4(ANK1):c.5395-1079G>A	Hereditary spherocytosis type 1 [RCV003989384]	uncertain significance	8	41664821	41664821	Human	1	name , alternate_id
408379464	CV3501035	single nucleotide variant	NM_000037.4(ANK1):c.129+11381A>G	not provided [RCV004722685]	likely benign	8	41746655	41746655	Human		name
408393902	CV3521621	single nucleotide variant	NM_000037.4(ANK1):c.5395-1085T>G	Hereditary spherocytosis type 1 [RCV004764419]	uncertain significance	8	41664827	41664827	Human	1	name , alternate_id
596945736	CV3548042	single nucleotide variant	NM_000037.4(ANK1):c.129+11331G>C	not provided [RCV004809373]	benign	8	41746705	41746705	Human		name
15184546	CV730570	single nucleotide variant	NM_000037.4(ANK1):c.5395-1057C>T	Hereditary spherocytosis type 1 [RCV003741228]\|not provided [RCV000886474]	likely benign	8	41664799	41664799	Human	1	name , alternate_id
15195212	CV730571	single nucleotide variant	NM_000037.4(ANK1):c.5395-1080C>T	Hereditary spherocytosis type 1 [RCV002227225]\|not provided [RCV000889440]	likely benign\|uncertain significance	8	41664822	41664822	Human	1	name , alternate_id
15201191	CV759667	single nucleotide variant	NM_000037.4(ANK1):c.5395-1238T>G	not provided [RCV000913067]	likely benign	8	41664980	41664980	Human		name
15194649	CV759709	single nucleotide variant	NM_000037.4(ANK1):c.5395-1090G>A	not provided [RCV000911185]	likely benign	8	41664832	41664832	Human		name
15166303	CV777707	single nucleotide variant	NM_000037.4(ANK1):c.5395-1147C>G	ANK1-related disorder [RCV003913264]\|Hereditary spherocytosis type 1 [RCV001000549]\|not provided [RCV000948803]	benign	8	41664889	41664889	Human	1	name , alternate_id
15192004	CV777758	single nucleotide variant	NM_000037.4(ANK1):c.5395-1162C>A	Hereditary spherocytosis type 1 [RCV001000825]\|not provided [RCV000954941]	benign\|likely benign\|uncertain significance	8	41664904	41664904	Human	1	name , alternate_id
597891812	CV3785046	deletion	NM_000037.4(ANK1):c.427-20_430del	not provided [RCV005125825]	likely pathogenic	8	41725943	41725966	Human		name
243057778	CV2405588	duplication	NM_000037.4(ANK1):c.1779_1800+1dup	Hereditary spherocytosis type 1 [RCV003133778]	likely pathogenic	8	41714154	41714155	Human	1	name , alternate_id
41405736	CV981643	deletion	NM_000037.4(ANK1):c.1702-3_1710del	Hereditary spherocytosis type 1 [RCV001287348]	pathogenic	8	41714246	41714257	Human	1	name , alternate_id
42723627	CV984504	deletion	NM_000037.4(ANK1):c.612+2_612+6del	not provided [RCV001291602]	likely pathogenic	8	41725755	41725759	Human		name
150465076	CV1268549	microsatellite	NM_000037.4(ANK1):c.1801-158GTTT[5]	not provided [RCV001694245]	benign	8	41709117	41709118	Human		name
151349973	CV1321173	single nucleotide variant	NM_001142446.2(ANK1):c.127-39556C>T	ANK1-related disorder [RCV003941137]\|Hereditary spherocytosis type 1 [RCV001803586]	likely benign	8	41797693	41797693	Human	1	name , alternate_id
404984215	CV2851553	duplication	NM_000037.4(ANK1):c.6dup (p.Tyr3fs)	Hereditary spherocytosis type 1 [RCV003489304]	pathogenic\|likely pathogenic	8	41797532	41797533	Human	1	name , alternate_id
596930197	CV3540207	deletion	NM_000037.4(ANK1):c.3328-14_3336del	not provided [RCV004792194]	likely pathogenic	8	41694094	41694116	Human		name
15180723	CV766814	single nucleotide variant	NM_000037.4(ANK1):c.24C>T (p.Arg8=)	not provided [RCV000929956]	likely benign	8	41797515	41797515	Human		name
127288060	CV1152347	single nucleotide variant	NM_000037.4(ANK1):c.30C>A (p.Ala10=)	not provided [RCV001508251]	uncertain significance	8	41758135	41758135	Human		name
401923985	CV2821058	single nucleotide variant	NM_000037.4(ANK1):c.7T>C (p.Tyr3His)	not provided [RCV003435476]	uncertain significance	8	41797532	41797532	Human		name
405213532	CV3078229	single nucleotide variant	NM_000037.4(ANK1):c.66A>G (p.Ser22=)	not provided [RCV003732336]	likely benign	8	41758099	41758099	Human		name
597936656	CV3774550	deletion	NM_000037.4(ANK1):c.17del (p.Gly6fs)	not provided [RCV005117583]	pathogenic	8	41797522	41797522	Human		name
13608858	CV535251	single nucleotide variant	NM_000037.4(ANK1):c.1A>G (p.Met1Val)	Hereditary spherocytosis type 1 [RCV000655900]	likely pathogenic	8	41797538	41797538	Human	1	name , alternate_id
15194172	CV766813	single nucleotide variant	NM_000037.4(ANK1):c.96G>C (p.Leu32=)	not provided [RCV000933568]	likely benign	8	41758069	41758069	Human		name
156123393	CV2088186	deletion	NM_000037.4(ANK1):c.40del (p.Thr14fs)	not provided [RCV002871356]	pathogenic	8	41758125	41758125	Human		name
243052330	CV2412658	deletion	NM_000037.4(ANK1):c.86del (p.Leu29fs)	Hereditary spherocytosis type 1 [RCV003131026]	likely pathogenic	8	41758079	41758079	Human	1	name , alternate_id
11548067	CV253142	single nucleotide variant	NM_000037.4(ANK1):c.237C>T (p.Asn79=)	Hereditary spherocytosis type 1 [RCV000336765]\|Spherocytosis [RCV001158833]\|not provided [RCV000900022]\|not specified [RCV000248603]	benign\|likely benign\|uncertain significance	8	41727998	41727998	Human	3	name , alternate_id
11551230	CV253143	single nucleotide variant	NM_000037.4(ANK1):c.183G>C (p.Val61=)	Hereditary spherocytosis type 1 [RCV001000234]\|Spherocytosis [RCV001160175]\|not provided [RCV002058296]\|not specified [RCV000252769]	benign\|likely benign	8	41734016	41734016	Human	3	name , alternate_id
597873114	CV3836244	single nucleotide variant	NM_000037.4(ANK1):c.246G>T (p.Leu82=)	not provided [RCV005177041]	likely benign	8	41727989	41727989	Human		name
15113334	CV751157	single nucleotide variant	NM_000037.4(ANK1):c.117C>T (p.Asn39=)	not provided [RCV000917073]	likely benign	8	41758048	41758048	Human		name
15113271	CV766812	single nucleotide variant	NM_000037.4(ANK1):c.219G>A (p.Thr73=)	not provided [RCV000939093]	likely benign	8	41733980	41733980	Human		name
150552915	CV1295588	single nucleotide variant	NM_000037.4(ANK1):c.31G>A (p.Asp11Asn)	Inborn genetic diseases [RCV005350635]\|not provided [RCV001768520]	uncertain significance	8	41758134	41758134	Human	1	name
155268320	CV1701737	deletion	NM_000037.4(ANK1):c.181del (p.Val61fs)	Hereditary spherocytosis type 1 [RCV002283967]	likely pathogenic	8	41734018	41734018	Human	1	name , alternate_id
156381873	CV1978889	single nucleotide variant	NM_000037.4(ANK1):c.98G>A (p.Arg33Gln)	not provided [RCV002604023]	uncertain significance	8	41758067	41758067	Human		name
156245772	CV2187395	deletion	NM_000037.4(ANK1):c.165del (p.Gly56fs)	not provided [RCV003059824]	pathogenic	8	41734034	41734034	Human		name
11544114	CV253139	single nucleotide variant	NM_000037.4(ANK1):c.597G>A (p.Pro199=)	Hereditary spherocytosis type 1 [RCV000389220]\|Spherocytosis [RCV001163452]\|not provided [RCV001709554]\|not specified [RCV000243356]	benign\|likely benign	8	41725776	41725776	Human	3	name , alternate_id
11544841	CV253140	single nucleotide variant	NM_000037.4(ANK1):c.450A>G (p.Val150=)	Hereditary spherocytosis type 1 [RCV000349721]\|Spherocytosis [RCV001163742]\|not provided [RCV001706358]\|not specified [RCV000244331]	benign\|likely benign	8	41725923	41725923	Human	3	name , alternate_id
11542760	CV253141	single nucleotide variant	NM_000037.4(ANK1):c.315C>T (p.Asn105=)	Hereditary spherocytosis type 1 [RCV000600895]\|Spherocytosis [RCV001158832]\|not provided [RCV001689900]\|not specified [RCV000241569]	benign\|likely benign	8	41727920	41727920	Human	3	name , alternate_id
402465969	CV2913924	single nucleotide variant	NM_000037.4(ANK1):c.72C>G (p.Asn24Lys)	not provided [RCV003569345]	uncertain significance	8	41758093	41758093	Human		name
405151712	CV2959857	single nucleotide variant	NM_000037.4(ANK1):c.44G>C (p.Ser15Thr)	not provided [RCV003674059]	uncertain significance	8	41758121	41758121	Human		name
405253527	CV3048211	single nucleotide variant	NM_000037.4(ANK1):c.318C>T (p.Ala106=)	not provided [RCV003722572]	likely benign	8	41727917	41727917	Human		name
11606231	CV305323	single nucleotide variant	NM_000037.4(ANK1):c.660C>T (p.Asn220=)	Hereditary spherocytosis type 1 [RCV000329011]\|Spherocytosis [RCV001161929]	uncertain significance	8	41724507	41724507	Human	3	name , alternate_id
405056997	CV3081279	single nucleotide variant	NM_000037.4(ANK1):c.813C>T (p.Asp271=)	Hereditary spherocytosis type 1 [RCV003741134]\|not provided [RCV005063156]	benign\|likely benign	8	41723221	41723221	Human	1	name , alternate_id
405057056	CV3081375	single nucleotide variant	NM_000037.4(ANK1):c.327G>A (p.Gln109=)	Hereditary spherocytosis type 1 [RCV003741141]	uncertain significance	8	41727908	41727908	Human	1	name , alternate_id
11599465	CV309163	single nucleotide variant	NM_000037.4(ANK1):c.669G>A (p.Gln223=)	ANK1-related disorder [RCV003902417]\|Hereditary spherocytosis type 1 [RCV000265674]\|Spherocytosis [RCV001161928]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41724498	41724498	Human	3	name , alternate_id
11611924	CV309167	single nucleotide variant	NM_000037.4(ANK1):c.384G>A (p.Lys128=)	Hereditary spherocytosis type 1 [RCV000401118]\|Spherocytosis [RCV001158829]	uncertain significance	8	41727292	41727292	Human	3	name , alternate_id
11602914	CV314424	single nucleotide variant	NM_000037.4(ANK1):c.489C>T (p.Leu163=)	Hereditary spherocytosis type 1 [RCV000294914]\|Spherocytosis [RCV001163739]\|not provided [RCV000956603]	benign\|likely benign	8	41725884	41725884	Human	3	name , alternate_id
11608396	CV314425	single nucleotide variant	NM_000037.4(ANK1):c.876G>A (p.Leu292=)	ANK1-related disorder [RCV003922633]\|Hereditary spherocytosis type 1 [RCV000354387]\|Spherocytosis [RCV001165445]\|not provided [RCV000921435]	likely benign\|uncertain significance	8	41723158	41723158	Human	3	name , alternate_id
11608851	CV314426	single nucleotide variant	NM_000037.4(ANK1):c.675C>T (p.Leu225=)	Hereditary spherocytosis type 1 [RCV000360351]\|Spherocytosis [RCV001158721]\|not provided [RCV000913208]	benign\|likely benign\|uncertain significance	8	41724492	41724492	Human	3	name , alternate_id
405221011	CV3154697	single nucleotide variant	NM_000037.4(ANK1):c.391C>T (p.Leu131=)	not provided [RCV003847192]	likely benign	8	41727285	41727285	Human		name
405254080	CV3174968	single nucleotide variant	NM_000037.4(ANK1):c.41C>G (p.Thr14Ser)	not provided [RCV003871420]	uncertain significance	8	41758124	41758124	Human		name
405260248	CV3190358	single nucleotide variant	NM_000037.4(ANK1):c.714C>T (p.Asn238=)	ANK1-related disorder [RCV003894753]	likely benign	8	41723631	41723631	Human		name , trait , alternate_id
405294279	CV3214791	single nucleotide variant	NM_000037.4(ANK1):c.708A>G (p.Pro236=)	ANK1-related disorder [RCV003934208]	likely benign	8	41724459	41724459	Human		name , trait , alternate_id
15151377	CV711533	single nucleotide variant	NM_000037.4(ANK1):c.690C>G (p.Ala230=)	ANK1-related disorder [RCV003962844]\|not provided [RCV000968125]	likely benign	8	41724477	41724477	Human	1	name , alternate_id
15181444	CV723095	single nucleotide variant	NM_000037.4(ANK1):c.981C>T (p.Tyr327=)	Hereditary spherocytosis type 1 [RCV001804049]\|not provided [RCV000885769]	benign\|likely benign	8	41719787	41719787	Human	1	name , alternate_id
15172651	CV736659	single nucleotide variant	NM_000037.4(ANK1):c.882C>T (p.His294=)	not provided [RCV000905710]	likely benign	8	41723152	41723152	Human		name
15188453	CV736660	single nucleotide variant	NM_000037.4(ANK1):c.624G>A (p.Thr208=)	not provided [RCV000909373]	likely benign	8	41724543	41724543	Human		name
15144393	CV751153	single nucleotide variant	NM_000037.4(ANK1):c.912C>T (p.Asn304=)	Hereditary spherocytosis type 1 [RCV005231967]\|not provided [RCV000922360]	likely benign	8	41719856	41719856	Human	1	name , alternate_id
15198317	CV751154	single nucleotide variant	NM_000037.4(ANK1):c.483G>A (p.Ala161=)	ANK1-related disorder [RCV003933000]\|Hereditary spherocytosis type 1 [RCV001163741]\|Spherocytosis [RCV001163740]\|not provided [RCV000912225]	benign\|likely benign\|uncertain significance	8	41725890	41725890	Human	3	name , alternate_id
15198708	CV751155	single nucleotide variant	NM_000037.4(ANK1):c.447G>T (p.Ala149=)	Hereditary spherocytosis type 1 [RCV001163744]\|Spherocytosis [RCV001163743]\|not provided [RCV000912337]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41725926	41725926	Human	3	name , alternate_id
15127134	CV751156	single nucleotide variant	NM_000037.4(ANK1):c.303A>T (p.Gly101=)	not provided [RCV000919446]	likely benign	8	41727932	41727932	Human		name
15136883	CV766811	single nucleotide variant	NM_000037.4(ANK1):c.723G>A (p.Thr241=)	not provided [RCV000943148]	likely benign	8	41723622	41723622	Human		name
15106381	CV783107	single nucleotide variant	NM_000037.4(ANK1):c.438G>T (p.Thr146=)	not provided [RCV000976621]	likely benign	8	41725935	41725935	Human		name
28869998	CV899600	single nucleotide variant	NM_000037.4(ANK1):c.964C>A (p.Arg322=)	Hereditary spherocytosis type 1 [RCV001163349]\|Spherocytosis [RCV001163348]	uncertain significance	8	41719804	41719804	Human	3	name , alternate_id
28905964	CV899602	single nucleotide variant	NM_000037.4(ANK1):c.801C>T (p.Thr267=)	Hereditary spherocytosis type 1 [RCV001158717]\|Spherocytosis [RCV001158716]	uncertain significance	8	41723544	41723544	Human	3	name , alternate_id
28870252	CV899604	single nucleotide variant	NM_000037.4(ANK1):c.528C>T (p.Ala176=)	Hereditary spherocytosis type 1 [RCV001163453]\|Spherocytosis [RCV001163454]	likely benign\|uncertain significance	8	41725845	41725845	Human	3	name , alternate_id
41405707	CV981647	single nucleotide variant	NM_000037.4(ANK1):c.639G>A (p.Ala213=)	Hereditary spherocytosis type 1 [RCV001287256]	uncertain significance	8	41724528	41724528	Human	1	name , alternate_id
127289635	CV1152338	single nucleotide variant	NM_000037.4(ANK1):c.1998G>A (p.Lys666=)	not provided [RCV001509347]	uncertain significance	8	41708778	41708778	Human		name
127288058	CV1152346	single nucleotide variant	NM_000037.4(ANK1):c.224C>T (p.Thr75Ile)	not provided [RCV001508250]	uncertain significance	8	41733975	41733975	Human		name
150548146	CV1314170	deletion	NM_000037.4(ANK1):c.725del (p.Pro242fs)	Hereditary spherocytosis type 1 [RCV001785923]	likely pathogenic	8	41723620	41723620	Human	1	name , alternate_id
151349673	CV1321572	single nucleotide variant	NM_000037.4(ANK1):c.2352C>T (p.Asp784=)	Hereditary spherocytosis type 1 [RCV001802554]	likely benign	8	41702088	41702088	Human	1	name , alternate_id
155644215	CV1668584	deletion	NM_000037.4(ANK1):c.886del (p.Ala296fs)	Hereditary spherocytosis type 1 [RCV002291014]	pathogenic	8	41723148	41723148	Human	1	name , alternate_id
155264714	CV1704275	deletion	NM_000037.4(ANK1):c.682del (p.Arg228fs)	not provided [RCV002284329]	likely pathogenic	8	41724485	41724485	Human		name
156004821	CV1906325	single nucleotide variant	NM_000037.4(ANK1):c.2085C>T (p.Asp695=)	not provided [RCV003098976]	likely benign	8	41706155	41706155	Human		name
156264381	CV1960793	single nucleotide variant	NM_000037.4(ANK1):c.2883G>A (p.Thr961=)	not provided [RCV002576954]	likely benign	8	41696440	41696440	Human		name
156288171	CV2058249	deletion	NM_000037.4(ANK1):c.629del (p.Leu210fs)	not provided [RCV002833089]	pathogenic	8	41724538	41724538	Human		name
156162001	CV2096923	single nucleotide variant	NM_000037.4(ANK1):c.202G>T (p.Glu68Ter)	not provided [RCV002872695]	pathogenic	8	41733997	41733997	Human		name
156345307	CV2120950	single nucleotide variant	NM_000037.4(ANK1):c.1383C>T (p.Ala461=)	not provided [RCV002939134]	likely benign	8	41716974	41716974	Human		name
156284554	CV2134039	single nucleotide variant	NM_000037.4(ANK1):c.1660C>T (p.Leu554=)	not provided [RCV003009718]	likely benign	8	41715017	41715017	Human		name
155981407	CV2140472	single nucleotide variant	NM_000037.4(ANK1):c.2202A>G (p.Gly734=)	not provided [RCV002996119]	likely benign	8	41704134	41704134	Human		name
156190369	CV2165948	deletion	NM_000037.4(ANK1):c.389del (p.Leu130fs)	not provided [RCV003041629]	pathogenic	8	41727287	41727287	Human		name
155995214	CV2171526	duplication	NM_000037.4(ANK1):c.390dup (p.Leu131fs)	not provided [RCV003034513]	pathogenic	8	41727285	41727286	Human		name
156181355	CV2246207	single nucleotide variant	NM_000037.4(ANK1):c.292G>A (p.Val98Ile)	Inborn genetic diseases [RCV002802297]	uncertain significance	8	41727943	41727943	Human	1	name
156396700	CV2330222	single nucleotide variant	NM_000037.4(ANK1):c.142G>A (p.Gly48Ser)	Inborn genetic diseases [RCV002945049]	uncertain significance	8	41734057	41734057	Human	1	name
156144015	CV2393640	single nucleotide variant	NM_000037.4(ANK1):c.284G>A (p.Arg95Gln)	Inborn genetic diseases [RCV002763709]	uncertain significance	8	41727951	41727951	Human	1	name
156448788	CV2402200	single nucleotide variant	NM_000037.4(ANK1):c.2637G>A (p.Gln879=)	Hereditary spherocytosis type 1 [RCV003120359]	uncertain significance	8	41698043	41698043	Human	1	name , alternate_id
243063310	CV2411649	single nucleotide variant	NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)	Hereditary spherocytosis type 1 [RCV003141372]	uncertain significance	8	41727982	41727982	Human	1	name , alternate_id
243063313	CV2411652	single nucleotide variant	NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)	Hereditary spherocytosis type 1 [RCV003141375]	uncertain significance	8	41727982	41727982	Human	1	name , alternate_id
243063319	CV2411658	single nucleotide variant	NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)	Hereditary spherocytosis type 1 [RCV003141381]	uncertain significance	8	41727952	41727952	Human	1	name , alternate_id
243063322	CV2411661	single nucleotide variant	NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)	Hereditary spherocytosis type 1 [RCV003141384]	uncertain significance	8	41727993	41727993	Human	1	name , alternate_id
243063338	CV2411678	single nucleotide variant	NM_000037.4(ANK1):c.247C>T (p.His83Tyr)	Hereditary spherocytosis type 1 [RCV003141401]	uncertain significance	8	41727988	41727988	Human	1	name , alternate_id
243063349	CV2411690	single nucleotide variant	NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)	Hereditary spherocytosis type 1 [RCV003141413]	uncertain significance	8	41727970	41727970	Human	1	name , alternate_id
243057875	CV2412608	deletion	NM_000037.4(ANK1):c.557del (p.Thr186fs)	Hereditary spherocytosis type 1 [RCV003135354]	likely pathogenic	8	41725816	41725816	Human	1	name , alternate_id
11551717	CV253125	single nucleotide variant	NM_000037.4(ANK1):c.2913G>C (p.Leu971=)	Hereditary spherocytosis type 1 [RCV000604238]\|Spherocytosis [RCV001161487]\|not provided [RCV002058297]\|not specified [RCV000253390]	benign\|likely benign	8	41696410	41696410	Human	3	name , alternate_id
11546008	CV253126	single nucleotide variant	NM_000037.4(ANK1):c.2349C>T (p.Thr783=)	Hereditary spherocytosis type 1 [RCV000612375]\|Spherocytosis [RCV001158386]\|not provided [RCV001689899]\|not specified [RCV000245902]	benign\|likely benign	8	41702091	41702091	Human	3	name , alternate_id
11548328	CV253128	single nucleotide variant	NM_000037.4(ANK1):c.2073C>T (p.Gly691=)	Hereditary spherocytosis type 1 [RCV000393967]\|Spherocytosis [RCV001161596]\|not provided [RCV001668570]\|not specified [RCV000248946]	benign\|likely benign	8	41706167	41706167	Human	3	name , alternate_id
11548847	CV253130	single nucleotide variant	NM_000037.4(ANK1):c.1782C>A (p.Ser594=)	Hereditary spherocytosis type 1 [RCV000755809]\|Spherocytosis [RCV001163126]\|not provided [RCV002058295]\|not specified [RCV000249630]	benign\|likely benign	8	41714174	41714174	Human	14	name , alternate_id
11548847	CV253130	single nucleotide variant	NM_000037.4(ANK1):c.1782C>A (p.Ser594=)	Hereditary spherocytosis type 1 [RCV000755809]\|Spherocytosis [RCV001163126]\|not provided [RCV002058295]\|not specified [RCV000249630]	benign\|likely benign	8	41714174	41714175	Human	14	name , alternate_id
11544947	CV253131	single nucleotide variant	NM_000037.4(ANK1):c.1686G>A (p.Pro562=)	not specified [RCV000244477]	likely benign	8	41714991	41714991	Human		name
11551158	CV253132	single nucleotide variant	NM_000037.4(ANK1):c.1590C>T (p.Ala530=)	Hereditary spherocytosis type 1 [RCV000319695]\|Spherocytosis [RCV001165205]\|not provided [RCV000970680]\|not specified [RCV000252683]	benign\|likely benign\|uncertain significance	8	41715664	41715664	Human	3	name , alternate_id
11546632	CV253133	single nucleotide variant	NM_000037.4(ANK1):c.1506C>T (p.Ala502=)	Hereditary spherocytosis type 1 [RCV001158497]\|Spherocytosis [RCV001158496]\|not provided [RCV000879423]\|not specified [RCV000246717]	benign\|likely benign\|uncertain significance	8	41715748	41715748	Human	3	name , alternate_id
11550104	CV253135	single nucleotide variant	NM_000037.4(ANK1):c.1320G>A (p.Pro440=)	Hereditary spherocytosis type 1 [RCV000291118]\|Spherocytosis [RCV001165327]\|not provided [RCV002058294]\|not specified [RCV000251294]	benign\|likely benign	8	41717037	41717037	Human	3	name , alternate_id
401909226	CV2803880	deletion	NM_000037.4(ANK1):c.530del (p.Leu177fs)	ANK1-related disorder [RCV003397803]	likely pathogenic	8	41725843	41725843	Human		name , trait , alternate_id
401923984	CV2821057	single nucleotide variant	NM_000037.4(ANK1):c.1270C>T (p.Leu424=)	not provided [RCV003435475]	likely benign	8	41717639	41717639	Human		name
401940365	CV2839217	deletion	NM_000037.4(ANK1):c.970del (p.Leu324fs)	Hereditary spherocytosis type 1 [RCV003448775]	likely pathogenic	8	41719798	41719798	Human	1	name , alternate_id
401961022	CV2844426	deletion	NM_000037.4(ANK1):c.533del (p.His178fs)	not provided [RCV003480221]	likely pathogenic	8	41725840	41725840	Human		name
404984464	CV2851548	duplication	NM_000037.4(ANK1):c.500dup (p.Thr168fs)	Hereditary spherocytosis type 1 [RCV003489299]	likely pathogenic	8	41725872	41725873	Human	1	name , alternate_id
405200053	CV2877106	deletion	NM_000037.4(ANK1):c.312del (p.Asn105fs)	not provided [RCV003551297]	pathogenic	8	41727923	41727923	Human		name
405220714	CV2965952	single nucleotide variant	NM_000037.4(ANK1):c.1890C>T (p.Ala630=)	not provided [RCV003680637]	likely benign	8	41708886	41708886	Human		name
405082535	CV3017031	single nucleotide variant	NM_000037.4(ANK1):c.2226C>G (p.Ala742=)	not provided [RCV003699152]	likely benign	8	41704110	41704110	Human		name
11606398	CV305302	single nucleotide variant	NM_000037.4(ANK1):c.2601T>C (p.Pro867=)	Hereditary spherocytosis type 1 [RCV000331022]\|Spherocytosis [RCV001163014]	uncertain significance	8	41698079	41698079	Human	3	name , alternate_id
11601387	CV305304	single nucleotide variant	NM_000037.4(ANK1):c.2403G>A (p.Lys801=)	Hereditary spherocytosis type 1 [RCV000281838]\|Spherocytosis [RCV001165100]\|not provided [RCV000755810]	benign\|likely benign\|uncertain significance	8	41701608	41701608	Human	3	name , alternate_id
11606881	CV305308	single nucleotide variant	NM_000037.4(ANK1):c.2370G>T (p.Thr790=)	Hereditary spherocytosis type 1 [RCV000336833]\|Spherocytosis [RCV001165101]	likely benign\|uncertain significance	8	41702070	41702070	Human	3	name , alternate_id
11649478	CV305310	single nucleotide variant	NM_000037.4(ANK1):c.1179G>A (p.Thr393=)	Hereditary spherocytosis type 1 [RCV000287452]\|Spherocytosis [RCV001158606]	uncertain significance	8	41718133	41718133	Human	3	name , alternate_id
405057089	CV3081461	single nucleotide variant	NM_000037.4(ANK1):c.1659G>A (p.Glu553=)	Hereditary spherocytosis type 1 [RCV003741145]	likely benign	8	41715018	41715018	Human	1	name , alternate_id
11612068	CV309121	single nucleotide variant	NM_000037.4(ANK1):c.1824C>T (p.Ile608=)	ANK1-related disorder [RCV003922632]\|Hereditary spherocytosis type 1 [RCV000403576]\|Spherocytosis [RCV001163125]	likely benign\|uncertain significance	8	41708952	41708952	Human	3	name , alternate_id
11608506	CV309152	single nucleotide variant	NM_000037.4(ANK1):c.1563C>T (p.Ala521=)	Hereditary spherocytosis type 1 [RCV000355865]\|Spherocytosis [RCV001158491]\|not provided [RCV000900127]	likely benign\|uncertain significance	8	41715691	41715691	Human	3	name , alternate_id
11605661	CV309159	single nucleotide variant	NM_000037.4(ANK1):c.1350G>A (p.Thr450=)	Hereditary spherocytosis type 1 [RCV000322301]\|Spherocytosis [RCV001165325]\|not provided [RCV005055934]	likely benign\|uncertain significance	8	41717007	41717007	Human	3	name , alternate_id
405007834	CV3118260	single nucleotide variant	NM_000037.4(ANK1):c.1695C>T (p.Ala565=)	not provided [RCV003828690]	likely benign	8	41714982	41714982	Human		name
405182593	CV3120014	single nucleotide variant	NM_000037.4(ANK1):c.2691G>A (p.Glu897=)	not provided [RCV003820107]	likely benign	8	41696720	41696720	Human		name
405021146	CV3139214	single nucleotide variant	NM_000037.4(ANK1):c.1944A>G (p.Ala648=)	not provided [RCV003829856]	likely benign	8	41708832	41708832	Human		name
405144603	CV3141440	single nucleotide variant	NM_000037.4(ANK1):c.2898C>T (p.Ala966=)	ANK1-related disorder [RCV003939227]\|not provided [RCV003839557]	likely benign	8	41696425	41696425	Human	1	name , alternate_id
11611015	CV314388	single nucleotide variant	NM_000037.4(ANK1):c.2835G>A (p.Ala945=)	Hereditary spherocytosis type 1 [RCV000389156]\|Spherocytosis [RCV001161488]	uncertain significance	8	41696488	41696488	Human	3	name , alternate_id
11600952	CV314390	single nucleotide variant	NM_000037.4(ANK1):c.2211C>G (p.Pro737=)	Hereditary spherocytosis type 1 [RCV001000233]\|not provided [RCV000880725]	benign\|likely benign	8	41704125	41704125	Human	1	name , alternate_id
11604340	CV314399	single nucleotide variant	NM_000037.4(ANK1):c.1926C>T (p.Ala642=)	Hereditary spherocytosis type 1 [RCV000308341]\|Spherocytosis [RCV001163122]\|not provided [RCV002524565]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41708850	41708850	Human	3	name , alternate_id
11598954	CV314400	single nucleotide variant	NM_000037.4(ANK1):c.1503C>T (p.Thr501=)	Hereditary spherocytosis type 1 [RCV000261396]\|Spherocytosis [RCV001161702]\|not provided [RCV005090602]	likely benign\|uncertain significance	8	41715751	41715751	Human	3	name , alternate_id
11611692	CV314410	single nucleotide variant	NM_000037.4(ANK1):c.1203C>T (p.Thr401=)	Hereditary spherocytosis type 1 [RCV000398433]\|Spherocytosis [RCV001165330]\|not provided [RCV000916901]	benign\|likely benign\|uncertain significance	8	41718109	41718109	Human	3	name , alternate_id
11612338	CV314413	single nucleotide variant	NM_000037.4(ANK1):c.1131C>A (p.Ile377=)	Hereditary spherocytosis type 1 [RCV000407152]\|Spherocytosis [RCV001161825]	uncertain significance	8	41718181	41718181	Human	3	name , alternate_id
405259241	CV3194594	single nucleotide variant	NM_000037.4(ANK1):c.1527T>A (p.Ile509=)	ANK1-related disorder [RCV003893988]	likely benign	8	41715727	41715727	Human		name , trait , alternate_id
405284603	CV3196950	single nucleotide variant	NM_000037.4(ANK1):c.1446C>T (p.His482=)	ANK1-related disorder [RCV003979795]	likely benign	8	41715808	41715808	Human		name , trait , alternate_id
405267514	CV3198408	single nucleotide variant	NM_000037.4(ANK1):c.1686G>C (p.Pro562=)	ANK1-related disorder [RCV003911778]	likely benign	8	41714991	41714991	Human		name , trait , alternate_id
405295353	CV3209367	single nucleotide variant	NM_000037.4(ANK1):c.1962G>C (p.Leu654=)	ANK1-related disorder [RCV003937252]	likely benign	8	41708814	41708814	Human		name , trait , alternate_id
405278897	CV3212690	single nucleotide variant	NM_000037.4(ANK1):c.2757T>A (p.Val919=)	ANK1-related disorder [RCV003954717]	likely benign	8	41696566	41696566	Human		name , trait , alternate_id
405809110	CV3287407	single nucleotide variant	NM_000037.4(ANK1):c.124A>T (p.Asn42Tyr)	Inborn genetic diseases [RCV004407369]	uncertain significance	8	41758041	41758041	Human	1	name
407490798	CV3416866	single nucleotide variant	NM_000037.4(ANK1):c.248A>C (p.His83Pro)	Hereditary spherocytosis type 1 [RCV004666694]	uncertain significance	8	41727987	41727987	Human	1	name , alternate_id
408371215	CV3504876	deletion	NM_000037.4(ANK1):c.925del (p.Ile309fs)	ANK1-related disorder [RCV004724507]	likely pathogenic	8	41719843	41719843	Human		name , trait , alternate_id
408374719	CV3517990	single nucleotide variant	NM_000037.4(ANK1):c.1722C>T (p.His574=)	ANK1-related disorder [RCV004747011]	likely benign	8	41714234	41714234	Human		name , trait , alternate_id
596930216	CV3540214	deletion	NM_000037.4(ANK1):c.473del (p.Asn158fs)	not provided [RCV004792201]	likely pathogenic	8	41725900	41725900	Human		name
596944661	CV3543281	deletion	NM_000037.4(ANK1):c.966del (p.Leu323fs)	Spherocytosis [RCV004799153]	pathogenic	8	41719802	41719802	Human	2	name
597647185	CV3551564	single nucleotide variant	NM_000037.4(ANK1):c.274G>T (p.Glu92Ter)	Hereditary spherocytosis type 1 [RCV004819941]	pathogenic	8	41727961	41727961	Human	1	name , alternate_id
597702061	CV3701739	single nucleotide variant	NM_000037.4(ANK1):c.203A>T (p.Glu68Val)	Inborn genetic diseases [RCV004988174]	uncertain significance	8	41733996	41733996	Human	1	name
597959317	CV3752273	single nucleotide variant	NM_000037.4(ANK1):c.2247C>T (p.Ile749=)	not provided [RCV005081223]	likely benign	8	41704089	41704089	Human		name
597947750	CV3758999	single nucleotide variant	NM_000037.4(ANK1):c.2205C>T (p.Tyr735=)	not provided [RCV005078795]	likely benign	8	41704131	41704131	Human		name
597923713	CV3772468	single nucleotide variant	NM_000037.4(ANK1):c.199A>T (p.Lys67Ter)	not provided [RCV005115618]	pathogenic	8	41734000	41734000	Human		name
597925160	CV3772636	single nucleotide variant	NM_000037.4(ANK1):c.152T>C (p.Leu51Pro)	not provided [RCV005115786]	uncertain significance	8	41734047	41734047	Human		name
597954971	CV3786793	deletion	NM_000037.4(ANK1):c.934del (p.Ala312fs)	not provided [RCV005121885]	pathogenic	8	41719834	41719834	Human		name
597931389	CV3789465	deletion	NM_000037.4(ANK1):c.816del (p.Glu272fs)	not provided [RCV005131746]	pathogenic	8	41723218	41723218	Human		name
597961971	CV3795325	single nucleotide variant	NM_000037.4(ANK1):c.277G>T (p.Val93Leu)	not provided [RCV005139017]	uncertain significance	8	41727958	41727958	Human		name
597916628	CV3811005	single nucleotide variant	NM_000037.4(ANK1):c.1008G>A (p.Leu336=)	not provided [RCV005155040]	likely benign	8	41719760	41719760	Human		name
597968694	CV3821013	single nucleotide variant	NM_000037.4(ANK1):c.2250G>T (p.Val750=)	not provided [RCV005165854]	likely benign	8	41704086	41704086	Human		name
597905235	CV3853093	single nucleotide variant	NM_000037.4(ANK1):c.2268C>T (p.Asn756=)	not provided [RCV005202750]	likely benign	8	41704068	41704068	Human		name
598127986	CV3883005	single nucleotide variant	NM_000037.4(ANK1):c.2283C>T (p.Asn761=)	Hereditary spherocytosis type 1 [RCV005234538]	likely benign	8	41704053	41704053	Human	1	name , alternate_id
598128137	CV3883156	single nucleotide variant	NM_000037.4(ANK1):c.1717C>T (p.Leu573=)	Hereditary spherocytosis type 1 [RCV005234689]	likely benign	8	41714239	41714239	Human	1	name , alternate_id
617149308	CV4021482	single nucleotide variant	NM_000037.4(ANK1):c.2004A>G (p.Gly668=)	not provided [RCV005425451]	likely benign	8	41706236	41706236	Human		name
13608860	CV535250	deletion	NM_000037.4(ANK1):c.534del (p.His178fs)	Hereditary spherocytosis type 1 [RCV000655901]	pathogenic	8	41725839	41725839	Human	1	name , alternate_id
15134130	CV711530	single nucleotide variant	NM_000037.4(ANK1):c.2970C>T (p.Ile990=)	Hereditary spherocytosis type 1 [RCV001286492]\|not provided [RCV000965074]	benign	8	41695322	41695322	Human	1	name , alternate_id
15149931	CV711531	single nucleotide variant	NM_000037.4(ANK1):c.2826G>A (p.Thr942=)	ANK1-related disorder [RCV003943163]\|Hereditary spherocytosis type 1 [RCV003741238]\|not provided [RCV000967846]	benign\|likely benign	8	41696497	41696497	Human	1	name , alternate_id
15151371	CV711532	single nucleotide variant	NM_000037.4(ANK1):c.1896G>A (p.Ser632=)	ANK1-related disorder [RCV003962843]\|not provided [RCV000968124]	likely benign	8	41708880	41708880	Human	1	name , alternate_id
15177439	CV723089	single nucleotide variant	NM_000037.4(ANK1):c.2844C>T (p.Arg948=)	ANK1-related disorder [RCV003948355]\|Hereditary spherocytosis type 1 [RCV003741227]\|not provided [RCV000884822]	likely benign	8	41696479	41696479	Human	1	name , alternate_id
15156420	CV723090	single nucleotide variant	NM_000037.4(ANK1):c.2745G>A (p.Val915=)	Hereditary spherocytosis type 1 [RCV003117632]\|not provided [RCV000880623]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	41696578	41696578	Human	1	name , alternate_id
15169447	CV723092	single nucleotide variant	NM_000037.4(ANK1):c.1467G>A (p.Leu489=)	Hereditary spherocytosis type 1 [RCV001804044]\|not provided [RCV000883268]	benign\|likely benign	8	41715787	41715787	Human	1	name , alternate_id
15168509	CV723094	single nucleotide variant	NM_000037.4(ANK1):c.1227C>T (p.His409=)	not provided [RCV000883080]	likely benign	8	41717682	41717682	Human		name
15173540	CV736651	single nucleotide variant	NM_000037.4(ANK1):c.2799C>A (p.Gly933=)	not provided [RCV000905862]	likely benign	8	41696524	41696524	Human		name
15140232	CV736652	single nucleotide variant	NM_000037.4(ANK1):c.2796C>T (p.Asn932=)	not provided [RCV000899283]	likely benign	8	41696527	41696527	Human		name
15176654	CV736653	single nucleotide variant	NM_000037.4(ANK1):c.2688C>G (p.Thr896=)	not provided [RCV000906477]	likely benign	8	41696723	41696723	Human		name
15132456	CV736654	single nucleotide variant	NM_000037.4(ANK1):c.2589C>T (p.Pro863=)	Hereditary spherocytosis type 1 [RCV001165097]\|Spherocytosis [RCV001165098]\|not provided [RCV000897960]	benign\|likely benign\|uncertain significance	8	41698091	41698091	Human	3	name , alternate_id
15172734	CV736655	single nucleotide variant	NM_000037.4(ANK1):c.2520G>A (p.Glu840=)	not provided [RCV000905727]	likely benign	8	41699490	41699490	Human		name
15136483	CV736657	single nucleotide variant	NM_000037.4(ANK1):c.1359C>T (p.Ala453=)	not provided [RCV000898635]	likely benign	8	41716998	41716998	Human		name
15121167	CV736658	single nucleotide variant	NM_000037.4(ANK1):c.1257C>T (p.Ile419=)	not provided [RCV000896013]	likely benign	8	41717652	41717652	Human		name
15199825	CV751148	single nucleotide variant	NM_000037.4(ANK1):c.2982G>A (p.Pro994=)	Hereditary spherocytosis type 1 [RCV001160074]\|Spherocytosis [RCV001160075]\|not provided [RCV000912664]	likely benign\|uncertain significance	8	41695310	41695310	Human	3	name , alternate_id
15140770	CV751149	single nucleotide variant	NM_000037.4(ANK1):c.1968G>A (p.Ser656=)	not provided [RCV000921731]	likely benign	8	41708808	41708808	Human		name
15125579	CV751150	single nucleotide variant	NM_000037.4(ANK1):c.1728C>T (p.Ala576=)	not provided [RCV000919182]	likely benign	8	41714228	41714228	Human		name
15117440	CV751151	single nucleotide variant	NM_000037.4(ANK1):c.1341C>T (p.Ala447=)	not provided [RCV000917795]	likely benign	8	41717016	41717016	Human		name
15106087	CV751152	single nucleotide variant	NM_000037.4(ANK1):c.1293C>T (p.Asn431=)	not provided [RCV000915676]	likely benign	8	41717616	41717616	Human		name
15202275	CV766808	single nucleotide variant	NM_000037.4(ANK1):c.1731C>G (p.Val577=)	not provided [RCV000935899]	likely benign	8	41714225	41714225	Human		name
15172642	CV766809	single nucleotide variant	NM_000037.4(ANK1):c.1725G>A (p.Val575=)	not provided [RCV000928157]	likely benign	8	41714231	41714231	Human		name
15122326	CV766810	single nucleotide variant	NM_000037.4(ANK1):c.1578A>G (p.Glu526=)	Hereditary spherocytosis type 1 [RCV005231983]\|not provided [RCV000940668]	likely benign	8	41715676	41715676	Human	1	name , alternate_id
15138342	CV783106	single nucleotide variant	NM_000037.4(ANK1):c.2424G>A (p.Glu808=)	not provided [RCV000982456]	likely benign	8	41701587	41701587	Human		name
28910509	CV899586	single nucleotide variant	NM_000037.4(ANK1):c.2817G>A (p.Pro939=)	Hereditary spherocytosis type 1 [RCV001161492]\|Spherocytosis [RCV001161491]	uncertain significance	8	41696506	41696506	Human	3	name , alternate_id
28869261	CV899587	single nucleotide variant	NM_000037.4(ANK1):c.2760C>T (p.Asp920=)	Hereditary spherocytosis type 1 [RCV001163009]\|Spherocytosis [RCV001163010]	uncertain significance	8	41696563	41696563	Human	3	name , alternate_id
28874087	CV899590	single nucleotide variant	NM_000037.4(ANK1):c.1638C>T (p.Tyr546=)	Hereditary spherocytosis type 1 [RCV001165202]\|Spherocytosis [RCV001165203]	uncertain significance	8	41715039	41715039	Human	3	name , alternate_id
28905545	CV899592	single nucleotide variant	NM_000037.4(ANK1):c.1521G>A (p.Leu507=)	Hereditary spherocytosis type 1 [RCV001158495]\|Spherocytosis [RCV001158494]	uncertain significance	8	41715733	41715733	Human	3	name , alternate_id
28874367	CV899594	single nucleotide variant	NM_000037.4(ANK1):c.1230G>C (p.Val410=)	Hereditary spherocytosis type 1 [RCV001165329]\|Spherocytosis [RCV001165328]	uncertain significance	8	41717679	41717679	Human	3	name , alternate_id
28905763	CV899595	single nucleotide variant	NM_000037.4(ANK1):c.1197G>A (p.Ala399=)	Hereditary spherocytosis type 1 [RCV001158604]\|Spherocytosis [RCV001158603]\|not provided [RCV003425961]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41718115	41718115	Human	3	name , alternate_id
28905767	CV899596	single nucleotide variant	NM_000037.4(ANK1):c.1194C>T (p.Asp398=)	Hereditary spherocytosis type 1 [RCV001158605]\|not provided [RCV003718372]	likely benign\|uncertain significance	8	41718118	41718118	Human	1	name , alternate_id
28869988	CV899598	single nucleotide variant	NM_000037.4(ANK1):c.1050C>T (p.His350=)	Hereditary spherocytosis type 1 [RCV001163343]	uncertain significance	8	41719718	41719718	Human	1	name , alternate_id
41404966	CV981634	single nucleotide variant	NM_000037.4(ANK1):c.2688C>T (p.Thr896=)	Hereditary spherocytosis type 1 [RCV001284926]	benign	8	41696723	41696723	Human	1	name , alternate_id
42723628	CV984505	duplication	NM_000037.4(ANK1):c.607dup (p.Ser203fs)	not provided [RCV001291603]	pathogenic	8	41725765	41725766	Human		name
8595025	CV15550	duplication	NM_000037.4(ANK1):c.1519dup (p.Leu507fs)	ANK1-related disorder [RCV003415605]\|Hereditary spherocytosis type 1 [RCV000000540]	pathogenic	8	41715734	41715735	Human	1	name , alternate_id
152085889	CV1645279	single nucleotide variant	NM_000037.4(ANK1):c.5223G>A (p.Gly1741=)	not provided [RCV002131421]	likely benign	8	41668438	41668438	Human		name
155644221	CV1668590	single nucleotide variant	NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)	Hereditary spherocytosis type 1 [RCV002291020]	pathogenic	8	41727916	41727916	Human	1	name , alternate_id
153303698	CV1686422	single nucleotide variant	NM_000037.4(ANK1):c.349A>G (p.Met117Val)	not provided [RCV002261855]	uncertain significance	8	41727327	41727327	Human		name
155264713	CV1704274	deletion	NM_000037.4(ANK1):c.2267del (p.Asn756fs)	not provided [RCV002284328]	likely pathogenic	8	41704069	41704069	Human		name
156438753	CV1947370	single nucleotide variant	NM_000037.4(ANK1):c.5526C>T (p.Ala1842=)	not provided [RCV003108700]	likely benign	8	41661894	41661894	Human		name
156283893	CV1968104	single nucleotide variant	NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)	Hereditary spherocytosis type 1 [RCV003491129]\|not provided [RCV002598485]	pathogenic	8	41723220	41723220	Human	1	name , alternate_id
155902524	CV2043696	single nucleotide variant	NM_000037.4(ANK1):c.4461C>T (p.Gly1487=)	not provided [RCV002771066]	likely benign	8	41684620	41684620	Human		name
156287996	CV2068636	deletion	NM_000037.4(ANK1):c.1039del (p.His347fs)	not provided [RCV002856632]	pathogenic	8	41719729	41719729	Human		name
155943710	CV2072406	single nucleotide variant	NM_000037.4(ANK1):c.4080C>T (p.Asn1360=)	not provided [RCV002861942]	likely benign	8	41690251	41690251	Human		name
156214763	CV2076604	single nucleotide variant	NM_000037.4(ANK1):c.4458C>G (p.Ser1486=)	not provided [RCV002875629]	likely benign	8	41684623	41684623	Human		name
156339284	CV2106747	deletion	NM_000037.4(ANK1):c.1122del (p.Leu375fs)	not provided [RCV002938807]	pathogenic	8	41718190	41718190	Human		name
156313539	CV2257027	single nucleotide variant	NM_000037.4(ANK1):c.548A>G (p.Asn183Ser)	Inborn genetic diseases [RCV002809263]	uncertain significance	8	41725825	41725825	Human	1	name
156196288	CV2259169	single nucleotide variant	NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)	Hereditary spherocytosis type 1 [RCV003491276]\|Inborn genetic diseases [RCV002803167]	uncertain significance	8	41723563	41723563	Human	2	name , alternate_id
156083672	CV2289614	single nucleotide variant	NM_000037.4(ANK1):c.395A>G (p.Glu132Gly)	Inborn genetic diseases [RCV002869410]	uncertain significance	8	41727281	41727281	Human	1	name
156183887	CV2292192	single nucleotide variant	NM_000037.4(ANK1):c.628C>G (p.Leu210Val)	Inborn genetic diseases [RCV002873833]\|not provided [RCV004790426]	uncertain significance	8	41724539	41724539	Human	1	name
243057888	CV2405541	duplication	NM_000037.4(ANK1):c.2023dup (p.Val675fs)	Hereditary spherocytosis type 1 [RCV003133748]	likely pathogenic	8	41706216	41706217	Human	1	name , alternate_id
243053973	CV2405876	deletion	NM_000037.4(ANK1):c.2823del (p.Thr942fs)	Hereditary spherocytosis type 1 [RCV003131405]	likely pathogenic	8	41696500	41696500	Human	1	name , alternate_id
243057847	CV2406317	duplication	NM_000037.4(ANK1):c.1717dup (p.Leu573fs)	Hereditary spherocytosis type 1 [RCV003135000]	pathogenic	8	41714238	41714239	Human	1	name , alternate_id
243057697	CV2407885	deletion	NM_000037.4(ANK1):c.1709del (p.Leu570fs)	Hereditary spherocytosis type 1 [RCV003131191]	likely pathogenic	8	41714247	41714247	Human	1	name , alternate_id
243057898	CV2407984	duplication	NM_000037.4(ANK1):c.1784dup (p.His596fs)	Hereditary spherocytosis type 1 [RCV003135744]	likely pathogenic	8	41714171	41714172	Human	1	name , alternate_id
243063318	CV2411657	single nucleotide variant	NM_000037.4(ANK1):c.310G>A (p.Val104Ile)	Hereditary spherocytosis type 1 [RCV003141380]\|not provided [RCV005099363]	uncertain significance	8	41727925	41727925	Human	1	name , alternate_id
243063321	CV2411660	single nucleotide variant	NM_000037.4(ANK1):c.935C>T (p.Ala312Val)	Hereditary spherocytosis type 1 [RCV003141383]	uncertain significance	8	41719833	41719833	Human	1	name , alternate_id
243063325	CV2411664	single nucleotide variant	NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)	Hereditary spherocytosis type 1 [RCV003141387]\|Inborn genetic diseases [RCV003358149]	uncertain significance	8	41724508	41724508	Human	2	name , alternate_id
243063328	CV2411667	single nucleotide variant	NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)	Hereditary spherocytosis type 1 [RCV003141390]	uncertain significance	8	41719810	41719810	Human	1	name , alternate_id
243063329	CV2411668	single nucleotide variant	NM_000037.4(ANK1):c.761T>C (p.Met254Thr)	Hereditary spherocytosis type 1 [RCV003141391]	uncertain significance	8	41723584	41723584	Human	1	name , alternate_id
243063342	CV2411683	single nucleotide variant	NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)	Hereditary spherocytosis type 1 [RCV003141406]	uncertain significance	8	41719804	41719804	Human	1	name , alternate_id
243063344	CV2411685	single nucleotide variant	NM_000037.4(ANK1):c.634A>G (p.Ile212Val)	Hereditary spherocytosis type 1 [RCV003141408]	uncertain significance	8	41724533	41724533	Human	1	name , alternate_id
243063347	CV2411688	single nucleotide variant	NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)	Hereditary spherocytosis type 1 [RCV003141411]	uncertain significance	8	41723539	41723539	Human	1	name , alternate_id
243063348	CV2411689	single nucleotide variant	NM_000037.4(ANK1):c.749G>T (p.Gly250Val)	Hereditary spherocytosis type 1 [RCV003141412]	uncertain significance	8	41723596	41723596	Human	1	name , alternate_id
243058816	CV2413203	duplication	NM_000037.4(ANK1):c.1488dup (p.Asn497fs)	Hereditary spherocytosis type 1 [RCV003134132]\|not provided [RCV003699030]	pathogenic\|likely pathogenic	8	41715765	41715766	Human	1	name , alternate_id
243054286	CV2413302	deletion	NM_000037.4(ANK1):c.2485del (p.Ala829fs)	Hereditary spherocytosis type 1 [RCV003131561]	likely pathogenic	8	41699525	41699525	Human	1	name , alternate_id
243052612	CV2417951	deletion	NM_000037.4(ANK1):c.2283del (p.Asn761fs)	Hereditary spherocytosis type 1 [RCV003153016]	likely pathogenic	8	41704053	41704053	Human	1	name , alternate_id
329356684	CV2460473	single nucleotide variant	NM_000037.4(ANK1):c.898G>A (p.Ala300Thr)	Inborn genetic diseases [RCV003203393]	uncertain significance	8	41723136	41723136	Human	1	name
401727277	CV2736270	single nucleotide variant	NM_000037.4(ANK1):c.721A>G (p.Thr241Ala)	not provided [RCV003312718]	uncertain significance	8	41723624	41723624	Human		name
401724048	CV2737951	deletion	NM_000037.4(ANK1):c.1915del (p.Leu639fs)	ANK1-related disorder [RCV003396992]\|Hereditary spherocytosis type 1 [RCV003315123]	pathogenic	8	41708861	41708861	Human	1	name , alternate_id
401830731	CV2748379	single nucleotide variant	NM_000037.4(ANK1):c.353C>A (p.Ala118Glu)	not provided [RCV003329988]	uncertain significance	8	41727323	41727323	Human		name
401875278	CV2749928	deletion	NM_000037.4(ANK1):c.1376del (p.Asn459fs)	Hereditary spherocytosis type 1 [RCV003333334]	likely pathogenic	8	41716981	41716981	Human	1	name , alternate_id
401912105	CV2796057	single nucleotide variant	NM_000037.4(ANK1):c.767G>A (p.Arg256Gln)	ANK1-related disorder [RCV003399753]	uncertain significance	8	41723578	41723578	Human		name , trait , alternate_id
401933877	CV2798005	deletion	NM_000037.4(ANK1):c.1775del (p.Gly592fs)	ANK1-related disorder [RCV003410757]	pathogenic	8	41714181	41714181	Human		name , trait , alternate_id
401931373	CV2798098	single nucleotide variant	NM_000037.4(ANK1):c.829C>T (p.His277Tyr)	ANK1-related disorder [RCV003391344]	uncertain significance	8	41723205	41723205	Human		name , trait , alternate_id
401935104	CV2799885	single nucleotide variant	NM_000037.4(ANK1):c.452C>A (p.Ala151Asp)	ANK1-related disorder [RCV003412522]	uncertain significance	8	41725921	41725921	Human		name , trait , alternate_id
401907593	CV2801164	single nucleotide variant	NM_000037.4(ANK1):c.3984G>A (p.Lys1328=)	ANK1-related disorder [RCV003397405]	uncertain significance	8	41690474	41690474	Human		name , trait , alternate_id
401923981	CV2821055	single nucleotide variant	NM_000037.4(ANK1):c.4056C>T (p.Thr1352=)	not provided [RCV003435473]	likely benign	8	41690275	41690275	Human		name
401961027	CV2844431	single nucleotide variant	NM_000037.4(ANK1):c.371T>A (p.Leu124Ter)	not provided [RCV003480226]	pathogenic	8	41727305	41727305	Human		name
404988511	CV2849597	single nucleotide variant	NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)	Hereditary spherocytosis type 1 [RCV003490452]	uncertain significance	8	41727332	41727332	Human	1	name , alternate_id
404988565	CV2849605	single nucleotide variant	NM_000037.4(ANK1):c.694G>A (p.Val232Ile)	Hereditary spherocytosis type 1 [RCV003490460]	uncertain significance	8	41724473	41724473	Human	1	name , alternate_id
404993123	CV2850950	deletion	NM_000037.4(ANK1):c.1519del (p.Leu507fs)	Hereditary spherocytosis type 1 [RCV003491437]	pathogenic	8	41715735	41715735	Human	1	name , alternate_id
404984197	CV2851549	duplication	NM_000037.4(ANK1):c.1282dup (p.Ala428fs)	Hereditary spherocytosis type 1 [RCV003489300]	likely pathogenic	8	41717626	41717627	Human	1	name , alternate_id
404984220	CV2851554	single nucleotide variant	NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)	Hereditary spherocytosis type 1 [RCV003489305]	likely pathogenic	8	41727335	41727335	Human	1	name , alternate_id
404984264	CV2851562	deletion	NM_000037.4(ANK1):c.2764del (p.Arg922fs)	Hereditary spherocytosis type 1 [RCV003489313]	likely pathogenic	8	41696559	41696559	Human	1	name , alternate_id
404984287	CV2851567	deletion	NM_000037.4(ANK1):c.1124del (p.Leu375fs)	Hereditary spherocytosis type 1 [RCV003489318]	likely pathogenic	8	41718188	41718188	Human	1	name , alternate_id
404984291	CV2851568	deletion	NM_000037.4(ANK1):c.1675del (p.Asp559fs)	Hereditary spherocytosis type 1 [RCV003489319]	likely pathogenic	8	41715002	41715002	Human	1	name , alternate_id
404984322	CV2851574	deletion	NM_000037.4(ANK1):c.2681del (p.Pro894fs)	Hereditary spherocytosis type 1 [RCV003489325]	likely pathogenic	8	41696730	41696730	Human	1	name , alternate_id
405026715	CV2852866	duplication	NM_000037.4(ANK1):c.2581dup (p.Arg861fs)	Hereditary spherocytosis type 1 [RCV003494060]	likely pathogenic	8	41698098	41698099	Human	1	name , alternate_id
405225757	CV2882021	deletion	NM_000037.4(ANK1):c.1175del (p.Lys392fs)	not provided [RCV003554567]	pathogenic	8	41718137	41718137	Human		name
405170845	CV2897407	single nucleotide variant	NM_000037.4(ANK1):c.682A>T (p.Arg228Ter)	not provided [RCV003563110]	pathogenic	8	41724485	41724485	Human		name
402468273	CV2911528	deletion	NM_000037.4(ANK1):c.2221del (p.Ala741fs)	not provided [RCV003569866]	pathogenic	8	41704115	41704115	Human		name
402471997	CV2912116	single nucleotide variant	NM_000037.4(ANK1):c.965G>A (p.Arg322Gln)	not provided [RCV003570691]	uncertain significance	8	41719803	41719803	Human		name
402504447	CV2927553	single nucleotide variant	NM_000037.4(ANK1):c.991A>T (p.Ile331Leu)	not provided [RCV003574322]	uncertain significance	8	41719777	41719777	Human		name
402481379	CV3001155	single nucleotide variant	NM_000037.4(ANK1):c.368A>C (p.His123Pro)	not provided [RCV003686647]	uncertain significance	8	41727308	41727308	Human		name
405082610	CV3017044	deletion	NM_000037.4(ANK1):c.2199del (p.Gly734fs)	not provided [RCV003699157]	pathogenic	8	41704137	41704137	Human		name
405128353	CV3054348	single nucleotide variant	NM_000037.4(ANK1):c.925A>G (p.Ile309Val)	not provided [RCV003724591]	uncertain significance	8	41719843	41719843	Human		name
405181111	CV3057267	single nucleotide variant	NM_000037.4(ANK1):c.4098C>T (p.Cys1366=)	not provided [RCV003728782]	likely benign	8	41690233	41690233	Human		name
405057017	CV3081290	single nucleotide variant	NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)	Hereditary spherocytosis type 1 [RCV003741136]	pathogenic	8	41727910	41727910	Human	1	name , alternate_id
405057026	CV3081300	single nucleotide variant	NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)	Hereditary spherocytosis type 1 [RCV003741137]	uncertain significance	8	41725918	41725918	Human	1	name , alternate_id
405057071	CV3081388	deletion	NM_000037.4(ANK1):c.1438del (p.Ile480fs)	Hereditary spherocytosis type 1 [RCV003741143]	pathogenic	8	41715816	41715816	Human	1	name , alternate_id
405058677	CV3129358	single nucleotide variant	NM_000037.4(ANK1):c.5298C>T (p.Pro1766=)	not provided [RCV003832627]	likely benign	8	41668363	41668363	Human		name
405192665	CV3157211	single nucleotide variant	NM_000037.4(ANK1):c.694G>T (p.Val232Phe)	not provided [RCV003859900]	uncertain significance	8	41724473	41724473	Human		name
405194417	CV3167656	single nucleotide variant	NM_000037.4(ANK1):c.614C>T (p.Thr205Met)	not provided [RCV003860062]	uncertain significance	8	41724553	41724553	Human		name
402490592	CV3182414	single nucleotide variant	NM_000037.4(ANK1):c.3600C>T (p.Cys1200=)	not provided [RCV003876900]	likely benign	8	41693134	41693134	Human		name
402495470	CV3183097	single nucleotide variant	NM_000037.4(ANK1):c.3228C>T (p.Ile1076=)	not provided [RCV003877405]	likely benign	8	41694691	41694691	Human		name
405269401	CV3187346	single nucleotide variant	NM_000037.4(ANK1):c.3762G>A (p.Gly1254=)	not provided [RCV003887430]	likely benign	8	41692744	41692744	Human		name
405289054	CV3204884	single nucleotide variant	NM_000037.4(ANK1):c.4116C>T (p.Ala1372=)	ANK1-related disorder [RCV003961535]	likely benign	8	41688578	41688578	Human		name , trait , alternate_id
405288771	CV3209932	single nucleotide variant	NM_000037.4(ANK1):c.3105G>A (p.Gly1035=)	ANK1-related disorder [RCV003961423]	likely benign	8	41695187	41695187	Human		name , trait , alternate_id
405255690	CV3210787	single nucleotide variant	NM_000037.4(ANK1):c.4569C>T (p.Ser1523=)	ANK1-related disorder [RCV003939300]\|not provided [RCV005064820]	likely benign	8	41672881	41672881	Human	1	name , alternate_id
405265820	CV3220912	single nucleotide variant	NM_000037.4(ANK1):c.498C>G (p.Tyr166Ter)	ANK1-related disorder [RCV003969073]	pathogenic	8	41725875	41725875	Human		name , trait , alternate_id
405705401	CV3224794	deletion	NM_000037.4(ANK1):c.1143del (p.Asn382fs)	Hereditary spherocytosis type 1 [RCV003990174]	uncertain significance	8	41718169	41718169	Human	1	name , alternate_id
405698639	CV3227010	single nucleotide variant	NM_000037.4(ANK1):c.3909T>C (p.Pro1303=)	not provided [RCV003993404]	likely benign	8	41690549	41690549	Human		name
405691556	CV3227498	single nucleotide variant	NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)	Hereditary spherocytosis type 1 [RCV003991843]	likely pathogenic	8	41723139	41723139	Human	1	name , alternate_id
405809499	CV3287587	single nucleotide variant	NM_000037.4(ANK1):c.487C>T (p.Leu163Phe)	Inborn genetic diseases [RCV004407549]	uncertain significance	8	41725886	41725886	Human	1	name
405809582	CV3287650	single nucleotide variant	NM_000037.4(ANK1):c.742C>T (p.Arg248Cys)	Inborn genetic diseases [RCV004407612]	uncertain significance	8	41723603	41723603	Human	1	name
405809602	CV3287660	single nucleotide variant	NM_000037.4(ANK1):c.956A>C (p.Asp319Ala)	Inborn genetic diseases [RCV004407622]	uncertain significance	8	41719812	41719812	Human	1	name
407460092	CV3496910	single nucleotide variant	NM_000037.4(ANK1):c.3477G>A (p.Pro1159=)	Hereditary spherocytosis type 1 [RCV004698725]	likely benign	8	41693953	41693953	Human	1	name , alternate_id
408380632	CV3501224	single nucleotide variant	NM_000037.4(ANK1):c.4257A>G (p.Ala1419=)	not provided [RCV004727313]	likely benign	8	41688157	41688157	Human		name
408382599	CV3503501	deletion	NM_000037.4(ANK1):c.1495del (p.Ala499fs)	ANK1-related disorder [RCV004730018]	pathogenic	8	41715759	41715759	Human		name , trait , alternate_id
408375157	CV3510062	single nucleotide variant	NM_000037.4(ANK1):c.3552G>A (p.Gln1184=)	ANK1-related disorder [RCV004747808]	likely benign	8	41693182	41693182	Human		name , trait , alternate_id
596932372	CV3538992	single nucleotide variant	NM_000037.4(ANK1):c.814G>A (p.Glu272Lys)	not provided [RCV004793118]	uncertain significance	8	41723220	41723220	Human		name
596932373	CV3538993	single nucleotide variant	NM_000037.4(ANK1):c.728T>G (p.Leu243Arg)	not provided [RCV004793119]	uncertain significance	8	41723617	41723617	Human		name
596930203	CV3540209	deletion	NM_000037.4(ANK1):c.2755del (p.Val919fs)	not provided [RCV004792196]	likely pathogenic	8	41696568	41696568	Human		name
596930213	CV3540213	deletion	NM_000037.4(ANK1):c.1236del (p.Phe413fs)	not provided [RCV004792200]	likely pathogenic	8	41717673	41717673	Human		name
596944658	CV3543280	deletion	NM_000037.4(ANK1):c.2538del (p.Phe846fs)	Spherocytosis [RCV004799152]	pathogenic	8	41699472	41699472	Human	2	name
596947048	CV3547110	single nucleotide variant	NM_000037.4(ANK1):c.3012C>T (p.Arg1004=)	not provided [RCV004810917]	likely benign	8	41695280	41695280	Human		name
596946681	CV3548510	single nucleotide variant	NM_000037.4(ANK1):c.4644C>T (p.Asp1548=)	not provided [RCV004810337]	likely benign	8	41672806	41672806	Human		name
597701888	CV3693339	single nucleotide variant	NM_000037.4(ANK1):c.853G>A (p.Val285Met)	Inborn genetic diseases [RCV004988151]	uncertain significance	8	41723181	41723181	Human	1	name
597702045	CV3701717	single nucleotide variant	NM_000037.4(ANK1):c.490A>G (p.Ile164Val)	Inborn genetic diseases [RCV004988172]	uncertain significance	8	41725883	41725883	Human	1	name
597856724	CV3769394	single nucleotide variant	NM_000037.4(ANK1):c.5250C>T (p.Tyr1750=)	not provided [RCV005105435]	likely benign	8	41668411	41668411	Human		name
597946402	CV3790125	single nucleotide variant	NM_000037.4(ANK1):c.923C>G (p.Pro308Arg)	not provided [RCV005134826]	uncertain significance	8	41719845	41719845	Human		name
597962922	CV3795865	single nucleotide variant	NM_000037.4(ANK1):c.5118C>T (p.Asp1706=)	not provided [RCV005139355]	likely benign	8	41668543	41668543	Human		name
597970769	CV3802083	single nucleotide variant	NM_000037.4(ANK1):c.3642G>A (p.Ser1214=)	not provided [RCV005141875]	likely benign	8	41692864	41692864	Human		name
597928171	CV3816102	single nucleotide variant	NM_000037.4(ANK1):c.3877C>T (p.Leu1293=)	not provided [RCV005156683]	likely benign	8	41690581	41690581	Human		name
597849405	CV3824430	single nucleotide variant	NM_000037.4(ANK1):c.4278G>A (p.Gln1426=)	not provided [RCV005173469]	likely benign	8	41686264	41686264	Human		name
597873592	CV3836328	single nucleotide variant	NM_000037.4(ANK1):c.3828C>T (p.Phe1276=)	not provided [RCV005177125]	likely benign	8	41692678	41692678	Human		name
598127494	CV3882699	deletion	NM_000037.4(ANK1):c.1849del (p.Val617fs)	Hereditary spherocytosis type 1 [RCV005234229]	pathogenic	8	41708927	41708927	Human	1	name , alternate_id
598127613	CV3882776	single nucleotide variant	NM_000037.4(ANK1):c.305C>A (p.Ala102Asp)	Hereditary spherocytosis type 1 [RCV005234307]	uncertain significance	8	41727930	41727930	Human	1	name , alternate_id
598128068	CV3883086	single nucleotide variant	NM_000037.4(ANK1):c.3687G>T (p.Leu1229=)	Hereditary spherocytosis type 1 [RCV005234619]	likely benign	8	41692819	41692819	Human	1	name , alternate_id
598129984	CV3887410	single nucleotide variant	NM_000037.4(ANK1):c.3666T>C (p.Ala1222=)	not provided [RCV005245471]	likely benign	8	41692840	41692840	Human		name
598128242	CV3887440	single nucleotide variant	NM_000037.4(ANK1):c.4140G>A (p.Thr1380=)	not provided [RCV005243613]	likely benign	8	41688554	41688554	Human		name
598270778	CV3973242	single nucleotide variant	NM_000037.4(ANK1):c.760A>G (p.Met254Val)	Inborn genetic diseases [RCV005350193]	uncertain significance	8	41723585	41723585	Human	1	name
616938973	CV4015301	single nucleotide variant	NM_000037.4(ANK1):c.648C>G (p.Tyr216Ter)	not provided [RCV005412810]	pathogenic	8	41724519	41724519	Human		name
15099087	CV723088	single nucleotide variant	NM_000037.4(ANK1):c.3615C>T (p.Thr1205=)	not provided [RCV000891878]	likely benign	8	41693119	41693119	Human		name
15102425	CV751135	single nucleotide variant	NM_000037.4(ANK1):c.5574G>A (p.Pro1858=)	not provided [RCV000914963]	likely benign	8	41661535	41661535	Human		name
15203322	CV751137	single nucleotide variant	NM_000037.4(ANK1):c.5124G>A (p.Ser1708=)	not provided [RCV000913866]	likely benign	8	41668537	41668537	Human		name
15203154	CV751144	single nucleotide variant	NM_000037.4(ANK1):c.3594C>T (p.Asn1198=)	not provided [RCV000913752]	likely benign	8	41693140	41693140	Human		name
15117189	CV766807	single nucleotide variant	NM_000037.4(ANK1):c.3045C>T (p.Ser1015=)	not provided [RCV000939792]	likely benign	8	41695247	41695247	Human		name
21406382	CV799548	single nucleotide variant	NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)	Hereditary spherocytosis type 1 [RCV001002597]\|Spherocytosis [RCV001163455]\|not provided [RCV005093026]	conflicting interpretations of pathogenicity\|uncertain significance	8	41725874	41725874	Human	3	name , alternate_id
21405633	CV799549	single nucleotide variant	NM_000037.4(ANK1):c.344T>C (p.Leu115Pro)	Hereditary spherocytosis type 1 [RCV001000898]	uncertain significance	8	41727332	41727332	Human	1	name , alternate_id
28868463	CV899567	single nucleotide variant	NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)	Hereditary spherocytosis type 1 [RCV001164543]\|Spherocytosis [RCV001162509]	uncertain significance	8	41661481	41661481	Human	3	name , alternate_id
28872736	CV899568	single nucleotide variant	NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)	Hereditary spherocytosis type 1 [RCV001164548]\|Spherocytosis [RCV001164547]\|not provided [RCV003737009]	likely benign\|uncertain significance	8	41661900	41661900	Human	3	name , alternate_id
28907589	CV899569	single nucleotide variant	NM_000037.4(ANK1):c.5448G>A (p.Thr1816=)	Hereditary spherocytosis type 1 [RCV001159629]\|Spherocytosis [RCV001159630]	uncertain significance	8	41663689	41663689	Human	3	name , alternate_id
28868614	CV899573	single nucleotide variant	NM_000037.4(ANK1):c.5061C>G (p.Pro1687=)	Hereditary spherocytosis type 1 [RCV001162601]\|Spherocytosis [RCV001162600]	uncertain significance	8	41672389	41672389	Human	3	name , alternate_id
28910090	CV899574	single nucleotide variant	NM_000037.4(ANK1):c.4365C>T (p.Val1455=)	Hereditary spherocytosis type 1 [RCV001161139]\|Spherocytosis [RCV001161140]	uncertain significance	8	41686177	41686177	Human	3	name , alternate_id
28869088	CV899583	single nucleotide variant	NM_000037.4(ANK1):c.3342G>T (p.Pro1114=)	Hereditary spherocytosis type 1 [RCV001162909]\|Spherocytosis [RCV001162910]	uncertain significance	8	41694088	41694088	Human	3	name , alternate_id
28869992	CV899599	single nucleotide variant	NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)	ANK1-related disorder [RCV003908415]\|Hereditary spherocytosis type 1 [RCV001163344]\|See cases [RCV002252320]\|not provided [RCV002067984]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41719771	41719771	Human	1	name , alternate_id
28874624	CV899601	single nucleotide variant	NM_000037.4(ANK1):c.875T>C (p.Leu292Pro)	Hereditary spherocytosis type 1 [RCV001165447]\|Spherocytosis [RCV001165446]	uncertain significance	8	41723159	41723159	Human	3	name , alternate_id
28905969	CV899603	single nucleotide variant	NM_000037.4(ANK1):c.722C>T (p.Thr241Met)	Hereditary spherocytosis type 1 [RCV001158719]\|Spherocytosis [RCV001158718]	uncertain significance	8	41723623	41723623	Human	3	name , alternate_id
38465456	CV961857	deletion	NM_000037.4(ANK1):c.1717del (p.Leu573fs)	Hereditary spherocytosis type 1 [RCV001250152]\|not provided [RCV001508240]	pathogenic	8	41714239	41714239	Human	1	name , alternate_id
41405899	CV981644	single nucleotide variant	NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)	Hereditary spherocytosis type 1 [RCV001287819]\|not provided [RCV001508247]	pathogenic	8	41723193	41723193	Human	1	name , alternate_id
41407373	CV981645	single nucleotide variant	NM_000037.4(ANK1):c.830A>C (p.His277Pro)	Hereditary spherocytosis type 1 [RCV001289706]	uncertain significance	8	41723204	41723204	Human	1	name , alternate_id
41405588	CV981646	single nucleotide variant	NM_000037.4(ANK1):c.758T>G (p.Ile253Ser)	Hereditary spherocytosis type 1 [RCV001286891]	uncertain significance	8	41723587	41723587	Human	1	name , alternate_id
150548153	CV1314176	single nucleotide variant	NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)	ANK1-related disorder [RCV003416450]\|Hereditary spherocytosis type 1 [RCV001785929]\|not provided [RCV001885175]	pathogenic\|likely pathogenic	8	41694762	41694762	Human	1	alternate_id
8595024	CV15549	single nucleotide variant	NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)	ANK1-related disorder [RCV003398399]\|Hereditary spherocytosis type 1 [RCV000000539]\|not provided [RCV001508610]	pathogenic\|likely pathogenic	8	41661923	41661923	Human	1	alternate_id
156011978	CV2039370	single nucleotide variant	NM_000037.4(ANK1):c.2095C>T (p.Arg699Trp)	ANK1-related disorder [RCV003409927]\|not provided [RCV002756735]	uncertain significance	8	41706145	41706145	Human	1	alternate_id
156295602	CV2303072	single nucleotide variant	NM_000037.4(ANK1):c.1685C>T (p.Pro562Leu)	ANK1-related disorder [RCV003420461]\|Inborn genetic diseases [RCV002897502]\|not provided [RCV004790431]	uncertain significance	8	41714992	41714992	Human	2	alternate_id
243055490	CV2406310	single nucleotide variant	NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)	ANK1-related disorder [RCV003395707]\|Hereditary spherocytosis type 1 [RCV003132022]	pathogenic	8	41672406	41672406	Human	1	alternate_id
243063332	CV2411672	single nucleotide variant	NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)	ANK1-related disorder [RCV004747270]\|Hereditary spherocytosis type 1 [RCV003141395]	uncertain significance	8	41690301	41690301	Human	1	alternate_id
401923171	CV2796660	single nucleotide variant	NM_000037.4(ANK1):c.1127A>C (p.His376Pro)	ANK1-related disorder [RCV003404279]	uncertain significance	8	41718185	41718185	Human		trait , alternate_id
401935027	CV2798158	single nucleotide variant	NM_000037.4(ANK1):c.2797G>A (p.Gly933Ser)	ANK1-related disorder [RCV003412443]\|Inborn genetic diseases [RCV004985345]	uncertain significance	8	41696526	41696526	Human	2	alternate_id
401913678	CV2799028	single nucleotide variant	NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter)	ANK1-related disorder [RCV003400209]	pathogenic	8	41684561	41684561	Human		trait , alternate_id
401933968	CV2802487	single nucleotide variant	NM_000037.4(ANK1):c.4459G>A (p.Gly1487Ser)	ANK1-related disorder [RCV003410851]\|not provided [RCV003720907]	uncertain significance	8	41684622	41684622	Human	1	alternate_id
401931637	CV2803865	duplication	NM_000037.4(ANK1):c.725_744dup (p.Arg249fs)	ANK1-related disorder [RCV003408408]	pathogenic\|likely pathogenic	8	41723600	41723601	Human		trait , alternate_id
401909460	CV2803953	single nucleotide variant	NM_000037.4(ANK1):c.3698T>C (p.Leu1233Pro)	ANK1-related disorder [RCV003397830]	uncertain significance	8	41692808	41692808	Human		trait , alternate_id
11608752	CV314346	single nucleotide variant	NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)	ANK1-related disorder [RCV003950288]\|Hereditary spherocytosis type 1 [RCV000359380]\|Inborn genetic diseases [RCV002523681]\|Spherocytosis [RCV001162700]\|not provided [RCV000755816]	likely benign\|uncertain significance	8	41688538	41688538	Human	4	alternate_id
405284795	CV3201850	insertion	NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs)	ANK1-related disorder [RCV003909373]	pathogenic	8	41693953	41693954	Human		trait , alternate_id
408382780	CV3503614	single nucleotide variant	NM_000037.4(ANK1):c.1094A>T (p.Asn365Ile)	ANK1-related disorder [RCV004730095]	uncertain significance	8	41719674	41719674	Human		trait , alternate_id
408378332	CV3505199	single nucleotide variant	NM_000037.4(ANK1):c.3781A>G (p.Met1261Val)	ANK1-related disorder [RCV004727936]	uncertain significance	8	41692725	41692725	Human		trait , alternate_id
408374209	CV3515196	single nucleotide variant	NM_000037.4(ANK1):c.2942C>T (p.Thr981Met)	ANK1-related disorder [RCV004746088]	uncertain significance	8	41696381	41696381	Human		trait , alternate_id
14393489	CV609694	single nucleotide variant	NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)	ANK1-related disorder [RCV003918234]\|Hereditary spherocytosis type 1 [RCV001164662]\|Inborn genetic diseases [RCV002536557]\|Spherocytosis [RCV001159736]\|not provided [RCV003688880]	likely benign\|uncertain significance	8	41672844	41672844	Human	4	alternate_id
14393490	CV609698	single nucleotide variant	NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)	ANK1-related disorder [RCV003965559]\|Hereditary spherocytosis type 1 [RCV001163346]\|Spherocytosis [RCV001163347]\|not provided [RCV000755813]	likely benign\|uncertain significance	8	41719803	41719803	Human	3	alternate_id
15168135	CV711527	single nucleotide variant	NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)	ANK1-related disorder [RCV003906018]\|Hereditary spherocytosis type 1 [RCV001164545]\|Spherocytosis [RCV001164546]\|not provided [RCV000971551]	likely benign\|uncertain significance	8	41661508	41661508	Human	3	alternate_id
15177179	CV736649	single nucleotide variant	NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)	ANK1-related disorder [RCV003910840]\|Hereditary spherocytosis type 1 [RCV001164985]\|Spherocytosis [RCV001164986]\|not provided [RCV000906589]	benign\|likely benign\|uncertain significance	8	41695190	41695190	Human	3	alternate_id
15131384	CV736650	single nucleotide variant	NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)	ANK1-related disorder [RCV003940804]\|Hereditary spherocytosis type 1 [RCV001161489]\|Spherocytosis [RCV001161490]\|not provided [RCV000897766]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41696493	41696493	Human	3	alternate_id
15161584	CV736656	single nucleotide variant	NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)	ANK1-related disorder [RCV003975758]\|Hereditary spherocytosis type 1 [RCV001804071]\|not provided [RCV000903376]	likely benign\|conflicting interpretations of pathogenicity	8	41704438	41704438	Human	1	alternate_id
21405414	CV799547	single nucleotide variant	NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)	ANK1-related disorder [RCV003928656]\|Hereditary spherocytosis type 1 [RCV001000394]\|Immunodeficiency 62 [RCV003447570]\|Spherocytosis [RCV001161824]\|not provided [RCV001869418]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41718159	41718159	Human	18	alternate_id
21405414	CV799547	single nucleotide variant	NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)	ANK1-related disorder [RCV003928656]\|Hereditary spherocytosis type 1 [RCV001000394]\|Immunodeficiency 62 [RCV003447570]\|Spherocytosis [RCV001161824]\|not provided [RCV001869418]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41718159	41718160	Human	18	alternate_id
28868935	CV899579	single nucleotide variant	NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)	ANK1-related disorder [RCV003938535]\|Hereditary spherocytosis type 1 [RCV001162798]\|Spherocytosis [RCV001162797]\|not provided [RCV001815502]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41692677	41692677	Human	4	alternate_id
28868935	CV899579	single nucleotide variant	NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)	ANK1-related disorder [RCV003938535]\|Hereditary spherocytosis type 1 [RCV001162798]\|Spherocytosis [RCV001162797]\|not provided [RCV001815502]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41692677	41692678	Human	4	alternate_id
126734524	CV1000626	single nucleotide variant	NM_000037.4(ANK1):c.4458C>T (p.Ser1486=)	Hereditary spherocytosis type 1 [RCV005232258]\|not provided [RCV001311330]	likely benign	8	41684623	41684623	Human	1	alternate_id
126726699	CV1017053	single nucleotide variant	NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser)	Hereditary spherocytosis type 1 [RCV001332123]	uncertain significance	8	41714984	41714984	Human	1	alternate_id
126726696	CV1017054	single nucleotide variant	NM_000037.4(ANK1):c.1066G>A (p.Val356Ile)	Hereditary spherocytosis type 1 [RCV001332122]\|Inborn genetic diseases [RCV003346479]	uncertain significance	8	41719702	41719702	Human	2	alternate_id
127288545	CV1152323	deletion	NM_000037.4(ANK1):c.4813del (p.Ala1605fs)	Hereditary spherocytosis type 1 [RCV003136091]\|not provided [RCV001508612]	likely pathogenic	8	41672637	41672637	Human	1	alternate_id
127289595	CV1152325	single nucleotide variant	NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)	Hereditary spherocytosis type 1 [RCV003136092]\|Inborn genetic diseases [RCV004037909]\|not provided [RCV001509334]	uncertain significance	8	41684609	41684609	Human	2	alternate_id
127289597	CV1152326	single nucleotide variant	NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)	Hereditary spherocytosis type 1 [RCV001564049]\|not provided [RCV001509336]	pathogenic\|likely pathogenic	8	41690331	41690331	Human	1	alternate_id
127289600	CV1152327	single nucleotide variant	NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)	Hereditary spherocytosis type 1 [RCV003490264]\|not provided [RCV001509337]	likely pathogenic\|uncertain significance	8	41694044	41694044	Human	1	alternate_id
150529676	CV1289351	deletion	NM_000037.4(ANK1):c.382_386del (p.Lys128fs)	Hereditary spherocytosis type 1 [RCV001728102]	pathogenic	8	41727290	41727294	Human	1	alternate_id
150529860	CV1289352	deletion	NM_000037.4(ANK1):c.3775del (p.Tyr1259fs)	Hereditary spherocytosis type 1 [RCV001728103]	likely pathogenic	8	41692731	41692731	Human	1	alternate_id
150529864	CV1289353	deletion	NM_000037.4(ANK1):c.3850del (p.Asp1284fs)	Hereditary spherocytosis type 1 [RCV001728104]	pathogenic	8	41692656	41692656	Human	1	alternate_id
150529677	CV1289354	single nucleotide variant	NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)	Hereditary spherocytosis type 1 [RCV001728105]\|not provided [RCV002539780]	pathogenic\|likely pathogenic	8	41684616	41684616	Human	1	alternate_id
150529867	CV1289355	deletion	NM_000037.4(ANK1):c.2004del (p.Leu669fs)	Hereditary spherocytosis type 1 [RCV001728106]	likely pathogenic	8	41706236	41706236	Human	1	name , alternate_id
150529870	CV1289356	duplication	NM_000037.4(ANK1):c.2104dup (p.Tyr702fs)	Hereditary spherocytosis type 1 [RCV001728107]	likely pathogenic	8	41704465	41704466	Human	1	alternate_id
150529679	CV1289357	deletion	NM_000037.4(ANK1):c.2393_2403del (p.Val798fs)	Hereditary spherocytosis type 1 [RCV001728108]	pathogenic	8	41701608	41701618	Human	1	alternate_id
150529874	CV1289358	deletion	NM_000037.4(ANK1):c.3059_3066del (p.His1020fs)	Hereditary spherocytosis type 1 [RCV001728109]	likely pathogenic	8	41695226	41695233	Human	1	alternate_id
150529680	CV1289359	single nucleotide variant	NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln)	Hereditary spherocytosis type 1 [RCV001728110]	uncertain significance	8	41694716	41694716	Human	1	alternate_id
150529875	CV1289360	deletion	NM_000037.4(ANK1):c.3269del (p.Leu1090fs)	Hereditary spherocytosis type 1 [RCV001728111]	likely pathogenic	8	41694650	41694650	Human	1	alternate_id
150520565	CV1290435	single nucleotide variant	NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)	Hereditary spherocytosis type 1 [RCV001731173]	pathogenic	8	41690233	41690233	Human	1	alternate_id
150544566	CV1313424	deletion	NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs)	Hereditary spherocytosis type 1 [RCV001783502]\|not provided [RCV002541152]	pathogenic\|likely pathogenic	8	41701614	41701617	Human	1	alternate_id
150548150	CV1314173	deletion	NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs)	Hereditary spherocytosis type 1 [RCV001785926]	likely pathogenic	8	41714162	41714175	Human	1	alternate_id
150548151	CV1314174	single nucleotide variant	NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)	Hereditary spherocytosis type 1 [RCV001785927]	likely pathogenic	8	41690530	41690530	Human	1	alternate_id
150548152	CV1314175	single nucleotide variant	NM_000037.4(ANK1):c.935C>A (p.Ala312Glu)	Hereditary spherocytosis type 1 [RCV001785928]	likely pathogenic\|uncertain significance	8	41719833	41719833	Human	1	alternate_id
150548155	CV1314178	deletion	NM_000037.4(ANK1):c.2768del (p.Gly923fs)	Hereditary spherocytosis type 1 [RCV001785931]	likely pathogenic	8	41696555	41696555	Human	1	alternate_id
150548156	CV1314179	deletion	NM_000037.4(ANK1):c.1452del (p.Asn484fs)	Hereditary spherocytosis type 1 [RCV001785932]	likely pathogenic	8	41715802	41715802	Human	1	name , alternate_id
150548157	CV1314180	single nucleotide variant	NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter)	Hereditary spherocytosis type 1 [RCV001785933]	likely pathogenic	8	41708881	41708881	Human	1	alternate_id
150548160	CV1314182	deletion	NM_000037.4(ANK1):c.4835del (p.Gly1612fs)	Hereditary spherocytosis type 1 [RCV001785935]	likely pathogenic	8	41672615	41672615	Human	1	alternate_id
151349858	CV1321095	single nucleotide variant	NM_000037.4(ANK1):c.2810T>C (p.Val937Ala)	Hereditary spherocytosis type 1 [RCV001803508]	uncertain significance	8	41696513	41696513	Human	1	alternate_id
151349901	CV1321158	single nucleotide variant	NM_000037.4(ANK1):c.356C>G (p.Ala119Gly)	Hereditary spherocytosis type 1 [RCV001803571]	uncertain significance	8	41727320	41727320	Human	1	alternate_id
151349939	CV1321220	single nucleotide variant	NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter)	Hereditary spherocytosis type 1 [RCV001803633]	pathogenic	8	41718188	41718188	Human	1	alternate_id
151349941	CV1321232	deletion	NM_000037.4(ANK1):c.2102del (p.Gly701fs)	Hereditary spherocytosis type 1 [RCV001803645]	pathogenic	8	41704468	41704468	Human	1	alternate_id
151349513	CV1321296	single nucleotide variant	NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)	Hereditary spherocytosis type 1 [RCV001802276]	likely benign\|conflicting interpretations of pathogenicity	8	41661509	41661509	Human	1	alternate_id
151349536	CV1321341	single nucleotide variant	NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile)	Hereditary spherocytosis type 1 [RCV001802321]	uncertain significance	8	41717644	41717644	Human	1	alternate_id
151349540	CV1321345	single nucleotide variant	NM_000037.4(ANK1):c.947A>G (p.Asp316Gly)	Hereditary spherocytosis type 1 [RCV001802325]	uncertain significance	8	41719821	41719821	Human	1	alternate_id
151349575	CV1321396	single nucleotide variant	NM_000037.4(ANK1):c.5598G>A (p.Gly1866=)	Hereditary spherocytosis type 1 [RCV001802377]	likely benign	8	41661511	41661511	Human	1	alternate_id
151349593	CV1321439	single nucleotide variant	NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)	Hereditary spherocytosis type 1 [RCV001802420]\|not provided [RCV001869471]	pathogenic	8	41696520	41696520	Human	1	alternate_id
151349631	CV1321486	single nucleotide variant	NM_000037.4(ANK1):c.931A>G (p.Met311Val)	Hereditary spherocytosis type 1 [RCV001802467]\|not provided [RCV005095183]	uncertain significance	8	41719837	41719837	Human	1	alternate_id
151349679	CV1321590	deletion	NM_000037.4(ANK1):c.1135del (p.Cys379fs)	Hereditary spherocytosis type 1 [RCV001802572]	likely pathogenic	8	41718177	41718177	Human	1	alternate_id
151349681	CV1321591	single nucleotide variant	NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)	Hereditary spherocytosis type 1 [RCV001802573]\|not provided [RCV003481130]	pathogenic\|likely pathogenic	8	41727267	41727267	Human	1	alternate_id
151349766	CV1321719	insertion	NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs)	Hereditary spherocytosis type 1 [RCV001802703]	pathogenic	8	41663700	41663701	Human	1	alternate_id
151348809	CV1324232	single nucleotide variant	NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)	Hereditary spherocytosis type 1 [RCV001808148]\|not provided [RCV005095216]	pathogenic\|likely pathogenic	8	41668553	41668553	Human	1	alternate_id
151662116	CV1330242	single nucleotide variant	NM_000037.4(ANK1):c.4444A>G (p.Met1482Val)	Hereditary spherocytosis type 1 [RCV001823654]	uncertain significance	8	41684637	41684637	Human	1	alternate_id
151866593	CV1411957	single nucleotide variant	NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)	Hereditary spherocytosis type 1 [RCV002291004]\|not provided [RCV001884612]	pathogenic	8	41684667	41684667	Human	1	alternate_id
151886695	CV1441639	single nucleotide variant	NM_000037.4(ANK1):c.856C>T (p.Arg286Ter)	Hereditary spherocytosis type 1 [RCV003490972]\|not provided [RCV001942222]	pathogenic	8	41723178	41723178	Human	1	alternate_id
8595022	CV15545	single nucleotide variant	NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter)	Hereditary spherocytosis type 1 [RCV000000535]	pathogenic	8	41672445	41672445	Human	1	alternate_id
8595023	CV15548	single nucleotide variant	NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter)	Hereditary spherocytosis type 1 [RCV000000538]\|not provided [RCV004791185]	pathogenic	8	41668498	41668498	Human	1	alternate_id
155644208	CV1668577	single nucleotide variant	NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)	Hereditary spherocytosis type 1 [RCV002291007]	pathogenic	8	41668469	41668469	Human	1	alternate_id
155644209	CV1668578	duplication	NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)	Hereditary spherocytosis type 1 [RCV002291008]	pathogenic	8	41688536	41688537	Human	1	alternate_id
155644210	CV1668579	single nucleotide variant	NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)	Hereditary spherocytosis type 1 [RCV002291009]	pathogenic	8	41672379	41672379	Human	1	alternate_id
155644229	CV1668598	single nucleotide variant	NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)	Hereditary spherocytosis type 1 [RCV002291029]	pathogenic	8	41716992	41716992	Human	1	alternate_id
155644248	CV1668617	duplication	NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)	Hereditary spherocytosis type 1 [RCV002291048]	pathogenic	8	41692856	41692857	Human	1	alternate_id
155644259	CV1668627	single nucleotide variant	NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)	Hereditary spherocytosis type 1 [RCV002291058]	pathogenic	8	41688210	41688210	Human	1	alternate_id
155644263	CV1668631	deletion	NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)	Hereditary spherocytosis type 1 [RCV002291062]	pathogenic	8	41693916	41693926	Human	1	alternate_id
155644264	CV1668632	microsatellite	NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)	Hereditary spherocytosis type 1 [RCV002291063]	pathogenic	8	41672630	41672631	Human		alternate_id
152978067	CV1671375	deletion	NM_000037.4(ANK1):c.3275del (p.Gln1092fs)	Hereditary spherocytosis type 1 [RCV002227334]	pathogenic	8	41694644	41694644	Human	1	alternate_id
152978084	CV1671386	single nucleotide variant	NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)	Hereditary spherocytosis type 1 [RCV002227345]\|Inborn genetic diseases [RCV005350927]\|not provided [RCV005095787]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41694621	41694621	Human	2	alternate_id
153304795	CV1690762	single nucleotide variant	NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)	Hereditary spherocytosis type 1 [RCV002269806]	pathogenic\|likely pathogenic	8	41694594	41694594	Human	1	alternate_id
156438301	CV1696090	deletion	NM_000037.4(ANK1):c.4140del (p.Leu1382fs)	Hereditary spherocytosis type 1 [RCV003108002]	pathogenic	8	41688554	41688554	Human	1	alternate_id
156403206	CV1904416	single nucleotide variant	NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)	Hereditary spherocytosis type 1 [RCV003138521]\|not provided [RCV002585164]	uncertain significance	8	41708888	41708888	Human	1	alternate_id
156418909	CV1918964	single nucleotide variant	NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)	Hereditary spherocytosis type 1 [RCV003140123]\|not provided [RCV002612120]	uncertain significance	8	41715816	41715816	Human	1	alternate_id
156305878	CV1999834	single nucleotide variant	NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)	Hereditary spherocytosis type 1 [RCV003138330]\|not provided [RCV002671380]	uncertain significance	8	41684580	41684580	Human	1	alternate_id
156223364	CV2121683	single nucleotide variant	NM_000037.4(ANK1):c.2855G>A (p.Arg952His)	Hereditary spherocytosis type 1 [RCV003448473]\|Inborn genetic diseases [RCV005356227]\|not provided [RCV002958231]	uncertain significance	8	41696468	41696468	Human	2	alternate_id
156204035	CV2134872	single nucleotide variant	NM_000037.4(ANK1):c.3487G>A (p.Gly1163Arg)	Hereditary spherocytosis type 1 [RCV005233050]\|not provided [RCV002985329]	uncertain significance	8	41693943	41693943	Human	1	alternate_id
156314765	CV2144008	single nucleotide variant	NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)	Hereditary spherocytosis type 1 [RCV003138435]\|not provided [RCV003011318]	uncertain significance	8	41718125	41718125	Human	1	alternate_id
156350014	CV2146996	single nucleotide variant	NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter)	Hereditary spherocytosis type 1 [RCV005254663]\|not provided [RCV003030796]	pathogenic	8	41690533	41690533	Human	1	alternate_id
155921250	CV2212199	single nucleotide variant	NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)	Hereditary spherocytosis type 1 [RCV003140157]\|Inborn genetic diseases [RCV002727473]\|not provided [RCV004585004]	likely benign\|uncertain significance	8	41718162	41718162	Human	2	alternate_id
156291559	CV2321124	single nucleotide variant	NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)	Hereditary spherocytosis type 1 [RCV003140190]\|Inborn genetic diseases [RCV002935648]	uncertain significance	8	41692865	41692865	Human	2	alternate_id
155920612	CV2340306	single nucleotide variant	NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)	Hereditary spherocytosis type 1 [RCV003491291]\|Inborn genetic diseases [RCV002969338]	uncertain significance	8	41694684	41694684	Human	2	alternate_id
11351046	CV237250	single nucleotide variant	NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)	Hereditary spherocytosis type 1 [RCV000385550]\|Spherocytosis [RCV001165099]\|not provided [RCV000224849]	pathogenic\|benign\|likely benign\|uncertain significance	8	41699515	41699515	Human	3	alternate_id
156390737	CV2383364	single nucleotide variant	NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)	Hereditary spherocytosis type 1 [RCV003491302]\|Inborn genetic diseases [RCV002724674]	uncertain significance	8	41694699	41694699	Human	2	alternate_id
156448601	CV2402008	single nucleotide variant	NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)	Hereditary spherocytosis type 1 [RCV003120167]	likely benign	8	41668428	41668428	Human	1	alternate_id
243057910	CV2405490	deletion	NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)	Hereditary spherocytosis type 1 [RCV003133711]	likely pathogenic	8	41668337	41668338	Human	1	alternate_id
243053789	CV2405684	duplication	NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)	Hereditary spherocytosis type 1 [RCV003131335]	likely pathogenic	8	41694719	41694720	Human	1	alternate_id
243058141	CV2405757	duplication	NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)	Hereditary spherocytosis type 1 [RCV003133876]	likely pathogenic	8	41694795	41694796	Human	1	alternate_id
243058197	CV2405809	single nucleotide variant	NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)	Hereditary spherocytosis type 1 [RCV003133904]	likely pathogenic	8	41708804	41708804	Human	1	alternate_id
243059508	CV2406304	single nucleotide variant	NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)	Hereditary spherocytosis type 1 [RCV003134995]	pathogenic	8	41695219	41695219	Human	1	alternate_id
243055492	CV2406313	deletion	NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)	Hereditary spherocytosis type 1 [RCV003132023]	pathogenic	8	41686152	41686155	Human	1	alternate_id
243059517	CV2406328	single nucleotide variant	NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)	Hereditary spherocytosis type 1 [RCV003135005]\|Inborn genetic diseases [RCV004636717]\|not provided [RCV003561183]	pathogenic	8	41692752	41692752	Human	2	alternate_id
243052937	CV2407708	deletion	NM_000037.4(ANK1):c.5026del (p.His1676fs)	Hereditary spherocytosis type 1 [RCV003131131]	likely pathogenic	8	41672424	41672424	Human	1	alternate_id
243053387	CV2407917	microsatellite	NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)	Hereditary spherocytosis type 1 [RCV003131202]	likely pathogenic	8	41693933	41693934	Human		alternate_id
243057768	CV2408037	deletion	NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)	Hereditary spherocytosis type 1 [RCV003133660]	likely pathogenic	8	41702090	41702120	Human	1	alternate_id
243059028	CV2410081	single nucleotide variant	NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)	Hereditary spherocytosis type 1 [RCV003147255]\|not provided [RCV003575043]	pathogenic\|likely pathogenic	8	41708876	41708876	Human	1	alternate_id
243053106	CV2410142	single nucleotide variant	NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)	Hereditary spherocytosis type 1 [RCV003144028]	likely pathogenic	8	41672679	41672679	Human	1	alternate_id
243053240	CV2410161	deletion	NM_000037.4(ANK1):c.3123del (p.Ser1042fs)	Hereditary spherocytosis type 1 [RCV003144047]\|not provided [RCV004790490]	likely pathogenic	8	41694796	41694796	Human	1	alternate_id
243053322	CV2410172	microsatellite	NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)	Hereditary spherocytosis type 1 [RCV003144058]	pathogenic\|likely pathogenic	8	41690564	41690565	Human		alternate_id
243064745	CV2410265	single nucleotide variant	NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)	Hereditary spherocytosis type 1 [RCV003143448]	likely pathogenic	8	41693184	41693184	Human	1	alternate_id
243057727	CV2410332	deletion	NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)	Hereditary spherocytosis type 1 [RCV003132667]	likely pathogenic	8	41725907	41725932	Human	1	alternate_id
243063311	CV2411650	single nucleotide variant	NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)	Hereditary spherocytosis type 1 [RCV003141373]	uncertain significance	8	41692649	41692649	Human	1	alternate_id
243063312	CV2411651	single nucleotide variant	NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)	Hereditary spherocytosis type 1 [RCV003141374]	uncertain significance	8	41668328	41668328	Human	1	alternate_id
243063314	CV2411653	single nucleotide variant	NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)	Hereditary spherocytosis type 1 [RCV003141376]	uncertain significance	8	41698108	41698108	Human	1	alternate_id
243063315	CV2411654	single nucleotide variant	NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)	Hereditary spherocytosis type 1 [RCV003141377]\|not provided [RCV004790487]	uncertain significance	8	41692779	41692779	Human	1	alternate_id
243063316	CV2411655	single nucleotide variant	NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)	Hereditary spherocytosis [RCV005356364]\|Hereditary spherocytosis type 1 [RCV003141378]\|not provided [RCV003548988]	uncertain significance	8	41692677	41692677	Human	2	alternate_id
243063317	CV2411656	single nucleotide variant	NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)	Hereditary spherocytosis type 1 [RCV003141379]\|Inborn genetic diseases [RCV003164851]	uncertain significance	8	41668535	41668535	Human	2	alternate_id
243063320	CV2411659	single nucleotide variant	NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)	Hereditary spherocytosis type 1 [RCV003141382]	uncertain significance	8	41668472	41668472	Human	1	alternate_id
243063323	CV2411662	deletion	NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)	Hereditary spherocytosis type 1 [RCV003141385]	uncertain significance	8	41672739	41672756	Human	1	alternate_id
243063324	CV2411663	single nucleotide variant	NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)	Hereditary spherocytosis type 1 [RCV003141386]	uncertain significance	8	41695243	41695243	Human	1	alternate_id
243063326	CV2411665	single nucleotide variant	NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)	Hereditary spherocytosis type 1 [RCV003141388]	uncertain significance	8	41708866	41708866	Human	1	alternate_id
243063327	CV2411666	single nucleotide variant	NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)	Hereditary spherocytosis type 1 [RCV003141389]\|Inborn genetic diseases [RCV003274344]	uncertain significance	8	41715819	41715819	Human	2	alternate_id
243063330	CV2411669	single nucleotide variant	NM_000037.4(ANK1):c.1303G>A (p.Val435Met)	Hereditary spherocytosis type 1 [RCV003141392]	uncertain significance	8	41717606	41717606	Human	1	alternate_id
243058527	CV2411670	single nucleotide variant	NM_000037.4(ANK1):c.1786C>A (p.His596Asn)	Hereditary spherocytosis type 1 [RCV003141393]	uncertain significance	8	41714170	41714170	Human	1	alternate_id
243063387	CV2411671	single nucleotide variant	NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)	Hereditary spherocytosis type 1 [RCV003141394]	uncertain significance	8	41695273	41695273	Human	1	alternate_id
243063333	CV2411673	single nucleotide variant	NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)	Hereditary spherocytosis type 1 [RCV003141396]	uncertain significance	8	41694043	41694043	Human	1	alternate_id
243063336	CV2411676	single nucleotide variant	NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)	Hereditary spherocytosis type 1 [RCV003141399]\|not provided [RCV003720770]	uncertain significance	8	41694035	41694035	Human	1	alternate_id
243063337	CV2411677	single nucleotide variant	NM_000037.4(ANK1):c.2971G>A (p.Val991Met)	Hereditary spherocytosis type 1 [RCV003141400]	uncertain significance	8	41695321	41695321	Human	1	alternate_id
243063339	CV2411679	single nucleotide variant	NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)	Hemolytic anemia [RCV003234602]\|Hereditary spherocytosis type 1 [RCV003141402]	uncertain significance	8	41668289	41668289	Human	3	alternate_id
243063340	CV2411680	single nucleotide variant	NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)	Hereditary spherocytosis type 1 [RCV003141403]	uncertain significance	8	41661503	41661503	Human	1	alternate_id
243063341	CV2411681	single nucleotide variant	NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)	Hereditary spherocytosis type 1 [RCV003141404]	uncertain significance	8	41715714	41715714	Human	1	alternate_id
243058529	CV2411682	single nucleotide variant	NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)	Hereditary spherocytosis type 1 [RCV003141405]	uncertain significance	8	41684654	41684654	Human	1	alternate_id
243063345	CV2411686	single nucleotide variant	NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)	Hereditary spherocytosis type 1 [RCV003141409]	uncertain significance	8	41690512	41690512	Human	1	alternate_id
243063346	CV2411687	single nucleotide variant	NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)	Hereditary spherocytosis type 1 [RCV003141410]\|not provided [RCV004809971]	conflicting interpretations of pathogenicity\|uncertain significance	8	41692743	41692743	Human	1	alternate_id
243059746	CV2412507	deletion	NM_000037.4(ANK1):c.4267del (p.Arg1423fs)	Hereditary spherocytosis type 1 [RCV003135305]	likely pathogenic	8	41686275	41686275	Human	1	alternate_id
243052181	CV2412555	deletion	NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)	Hereditary spherocytosis type 1 [RCV003130989]	likely pathogenic	8	41672670	41672671	Human	1	alternate_id
243059948	CV2412722	single nucleotide variant	NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)	Hereditary spherocytosis type 1 [RCV003135414]	likely pathogenic	8	41715669	41715669	Human	1	alternate_id
243059906	CV2412827	duplication	NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)	Hereditary spherocytosis type 1 [RCV003135484]	likely pathogenic	8	41672373	41672374	Human	1	alternate_id
243058353	CV2412942	single nucleotide variant	NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)	Hereditary spherocytosis type 1 [RCV003133983]	likely pathogenic	8	41692729	41692729	Human	1	alternate_id
243054348	CV2413052	deletion	NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)	Hereditary spherocytosis type 1 [RCV003131467]	likely pathogenic	8	41690230	41690239	Human	1	alternate_id
243054153	CV2413092	deletion	NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)	Hereditary spherocytosis type 1 [RCV003131483]	likely pathogenic	8	41716975	41716976	Human	1	alternate_id
243054371	CV2413173	deletion	NM_000037.4(ANK1):c.4886del (p.Asp1629fs)	Hereditary spherocytosis type 1 [RCV003131515]	likely pathogenic	8	41672564	41672564	Human	1	alternate_id
243057708	CV2413260	deletion	NM_000037.4(ANK1):c.4529del (p.Gln1510fs)	Hereditary spherocytosis type 1 [RCV003131547]	likely pathogenic	8	41684552	41684552	Human	1	alternate_id
243050371	CV2415473	single nucleotide variant	NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)	Hereditary spherocytosis type 1 [RCV003148043]	uncertain significance	8	41708948	41708948	Human	1	alternate_id
329388232	CV2437223	single nucleotide variant	NM_000037.4(ANK1):c.1228G>A (p.Val410Met)	Hereditary spherocytosis type 1 [RCV003992749]\|Inborn genetic diseases [RCV003190513]	uncertain significance	8	41717681	41717681	Human	2	alternate_id
11544312	CV253112	single nucleotide variant	NM_000037.4(ANK1):c.5265G>A (p.Val1755=)	Hereditary spherocytosis type 1 [RCV000611925]\|Spherocytosis [RCV001161009]\|not provided [RCV001683096]\|not specified [RCV000243612]	benign\|likely benign	8	41668396	41668396	Human	3	alternate_id
11547221	CV253114	single nucleotide variant	NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)	Hereditary spherocytosis type 1 [RCV000282509]\|Spherocytosis [RCV001164659]\|not provided [RCV000969890]\|not specified [RCV000247478]	benign\|likely benign\|uncertain significance	8	41672476	41672476	Human	6	alternate_id
11547221	CV253114	single nucleotide variant	NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)	Hereditary spherocytosis type 1 [RCV000282509]\|Spherocytosis [RCV001164659]\|not provided [RCV000969890]\|not specified [RCV000247478]	benign\|likely benign\|uncertain significance	8	41672476	41672477	Human	6	alternate_id
11550706	CV253115	single nucleotide variant	NM_000037.4(ANK1):c.4506C>T (p.Arg1502=)	Hereditary spherocytosis type 1 [RCV000308048]\|Spherocytosis [RCV001159739]\|not provided [RCV002058302]\|not specified [RCV000252101]	benign\|likely benign	8	41684575	41684575	Human	16	alternate_id
11550706	CV253115	single nucleotide variant	NM_000037.4(ANK1):c.4506C>T (p.Arg1502=)	Hereditary spherocytosis type 1 [RCV000308048]\|Spherocytosis [RCV001159739]\|not provided [RCV002058302]\|not specified [RCV000252101]	benign\|likely benign	8	41684575	41684576	Human	16	alternate_id
11543826	CV253117	single nucleotide variant	NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val)	Hereditary spherocytosis type 1 [RCV000406426]\|Spherocytosis [RCV001161138]\|not provided [RCV002058301]\|not specified [RCV000242980]	benign\|likely benign	8	41686157	41686157	Human	25	alternate_id
11543826	CV253117	single nucleotide variant	NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val)	Hereditary spherocytosis type 1 [RCV000406426]\|Spherocytosis [RCV001161138]\|not provided [RCV002058301]\|not specified [RCV000242980]	benign\|likely benign	8	41686157	41686158	Human	25	alternate_id
11551300	CV253118	single nucleotide variant	NM_000037.4(ANK1):c.4101C>T (p.Ala1367=)	Hereditary spherocytosis type 1 [RCV000267243]\|Spherocytosis [RCV001164758]\|not provided [RCV001660343]\|not specified [RCV000252857]	benign\|likely benign	8	41690230	41690230	Human	3	alternate_id
11547392	CV253119	single nucleotide variant	NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)	Hereditary spherocytosis type 1 [RCV001000209]\|Spherocytosis [RCV001159844]\|not provided [RCV002058300]\|not specified [RCV000247698]	benign\|likely benign\|uncertain significance	8	41690323	41690323	Human	3	alternate_id
11543766	CV253120	single nucleotide variant	NM_000037.4(ANK1):c.3973A>G (p.Met1325Val)	Hereditary spherocytosis type 1 [RCV000388799]\|Spherocytosis [RCV001161250]\|not provided [RCV002058299]\|not specified [RCV000242898]	benign\|likely benign	8	41690485	41690485	Human	3	alternate_id
11549061	CV253121	single nucleotide variant	NM_000037.4(ANK1):c.3486C>T (p.Ser1162=)	Hereditary spherocytosis type 1 [RCV000407847]\|Spherocytosis [RCV001161361]\|not provided [RCV002058298]\|not specified [RCV000249927]	benign\|likely benign	8	41693944	41693944	Human	3	alternate_id
11545447	CV253122	single nucleotide variant	NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile)	Hereditary spherocytosis type 1 [RCV001001485]\|not provided [RCV000967845]\|not specified [RCV000245152]	benign\|likely benign	8	41694695	41694695	Human	1	alternate_id
11544717	CV253129	single nucleotide variant	NM_000037.4(ANK1):c.1856G>A (p.Arg619His)	Hereditary spherocytosis type 1 [RCV000363206]\|Spherocytosis [RCV001163124]\|not provided [RCV001706357]\|not specified [RCV000244163]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	41708920	41708920	Human	3	alternate_id
11543046	CV253134	single nucleotide variant	NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)	Hereditary spherocytosis type 1 [RCV001161705]\|Spherocytosis [RCV001161704]\|not provided [RCV000911518]\|not specified [RCV000241940]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41715770	41715770	Human	3	alternate_id
11551639	CV253137	single nucleotide variant	NM_000037.4(ANK1):c.654C>A (p.Asn218Lys)	Hereditary spherocytosis type 1 [RCV001001521]\|Spherocytosis [RCV001161930]\|not provided [RCV002058303]\|not specified [RCV000253299]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41724513	41724513	Human	3	alternate_id
329953530	CV2670312	single nucleotide variant	NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)	Hereditary spherocytosis type 1 [RCV003234618]	likely pathogenic	8	41698048	41698048	Human	1	alternate_id
329955035	CV2670974	single nucleotide variant	NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr)	Hereditary spherocytosis type 1 [RCV003236243]	uncertain significance	8	41672667	41672667	Human	1	alternate_id
329951806	CV2671461	single nucleotide variant	NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)	Hereditary spherocytosis type 1 [RCV003236685]	uncertain significance	8	41693136	41693136	Human	1	alternate_id
329951872	CV2671475	deletion	NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)	Hereditary spherocytosis type 1 [RCV003236699]	pathogenic	8	41690290	41690291	Human	1	alternate_id
401773807	CV2691414	single nucleotide variant	NM_000037.4(ANK1):c.2011C>T (p.Pro671Ser)	Hereditary spherocytosis type 1 [RCV005230476]\|Inborn genetic diseases [RCV003285529]	uncertain significance	8	41706229	41706229	Human	2	alternate_id
401856290	CV2752417	single nucleotide variant	NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)	Hereditary spherocytosis type 1 [RCV003340754]	uncertain significance	8	41701564	41701564	Human	1	alternate_id
401919650	CV2794919	single nucleotide variant	NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)	Hereditary spherocytosis type 1 [RCV003388665]	uncertain significance	8	41714227	41714227	Human	1	alternate_id
401920143	CV2795038	duplication	NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)	Hereditary spherocytosis type 1 [RCV003388784]	likely pathogenic	8	41690476	41690477	Human	1	alternate_id
401940264	CV2832550	single nucleotide variant	NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)	Hereditary spherocytosis type 1 [RCV003448530]	likely pathogenic	8	41695242	41695242	Human	1	alternate_id
401940315	CV2839168	deletion	NM_000037.4(ANK1):c.3151del (p.Val1051fs)	Hereditary spherocytosis type 1 [RCV003448726]	likely pathogenic	8	41694768	41694768	Human	1	alternate_id
401940364	CV2839216	single nucleotide variant	NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)	Hereditary spherocytosis type 1 [RCV003448774]	uncertain significance	8	41672912	41672912	Human	1	alternate_id
401961721	CV2844043	single nucleotide variant	NM_000037.4(ANK1):c.1054A>G (p.Arg352Gly)	Hereditary spherocytosis [RCV005356451]\|Hereditary spherocytosis type 1 [RCV005230515]\|not provided [RCV003481883]	uncertain significance	8	41719714	41719714	Human	2	alternate_id
404988452	CV2849585	single nucleotide variant	NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)	Hereditary spherocytosis type 1 [RCV003490440]	uncertain significance	8	41702071	41702071	Human	1	alternate_id
404984012	CV2849586	single nucleotide variant	NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)	Hereditary spherocytosis type 1 [RCV003490441]\|not provided [RCV003699120]	uncertain significance	8	41672354	41672354	Human	1	alternate_id
404983377	CV2849587	single nucleotide variant	NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)	Hereditary spherocytosis type 1 [RCV003490442]\|not provided [RCV003738479]	uncertain significance	8	41684589	41684589	Human	1	alternate_id
404988458	CV2849588	single nucleotide variant	NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)	Hereditary spherocytosis type 1 [RCV003490443]	uncertain significance	8	41688580	41688580	Human	1	alternate_id
404988463	CV2849589	single nucleotide variant	NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)	Hereditary spherocytosis type 1 [RCV003490444]	uncertain significance	8	41717006	41717006	Human	1	alternate_id
404988482	CV2849591	single nucleotide variant	NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)	Hereditary spherocytosis type 1 [RCV003490446]\|Inborn genetic diseases [RCV004985373]	uncertain significance	8	41668379	41668379	Human	2	alternate_id
404983386	CV2849592	single nucleotide variant	NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)	Hereditary spherocytosis type 1 [RCV003490447]	uncertain significance	8	41704042	41704042	Human	1	alternate_id
404988489	CV2849593	single nucleotide variant	NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)	Hereditary spherocytosis type 1 [RCV003490448]	uncertain significance	8	41708794	41708794	Human	1	alternate_id
404988496	CV2849594	single nucleotide variant	NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)	Hereditary spherocytosis type 1 [RCV003490449]\|not provided [RCV004790572]	uncertain significance	8	41686172	41686172	Human	1	alternate_id
404988503	CV2849595	single nucleotide variant	NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)	Hereditary spherocytosis type 1 [RCV003490450]	uncertain significance	8	41672417	41672417	Human	1	alternate_id
402477267	CV2849596	single nucleotide variant	NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)	Hereditary spherocytosis type 1 [RCV003490451]\|Inborn genetic diseases [RCV004364863]\|not provided [RCV003779235]	uncertain significance	8	41699471	41699471	Human	2	alternate_id
404988518	CV2849598	single nucleotide variant	NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)	Hereditary spherocytosis type 1 [RCV003490453]	uncertain significance	8	41692686	41692686	Human	1	alternate_id
404988524	CV2849599	single nucleotide variant	NM_000037.4(ANK1):c.1028A>C (p.His343Pro)	Hereditary spherocytosis type 1 [RCV003490454]	uncertain significance	8	41719740	41719740	Human	1	alternate_id
404989793	CV2849600	single nucleotide variant	NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)	Hereditary spherocytosis type 1 [RCV003490455]	uncertain significance	8	41696399	41696399	Human	1	alternate_id
404989798	CV2849601	single nucleotide variant	NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)	Hereditary spherocytosis type 1 [RCV003490456]\|Inborn genetic diseases [RCV004364864]	uncertain significance	8	41704102	41704102	Human	2	alternate_id
404988551	CV2849603	single nucleotide variant	NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)	Hereditary spherocytosis type 1 [RCV003490458]	uncertain significance	8	41690227	41690227	Human	1	alternate_id
404988555	CV2849604	single nucleotide variant	NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)	Hereditary spherocytosis type 1 [RCV003490459]	uncertain significance	8	41699500	41699500	Human	1	alternate_id
404984174	CV2851544	single nucleotide variant	NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)	Hereditary spherocytosis type 1 [RCV003489295]	likely pathogenic	8	41695242	41695242	Human	1	alternate_id
404984177	CV2851545	deletion	NM_000037.4(ANK1):c.3841del (p.Arg1281fs)	Hereditary spherocytosis type 1 [RCV003489296]	likely pathogenic	8	41692665	41692665	Human	1	alternate_id
404984189	CV2851547	single nucleotide variant	NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)	Hereditary spherocytosis type 1 [RCV003489298]	likely pathogenic	8	41661920	41661920	Human	1	alternate_id
404984207	CV2851551	microsatellite	NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)	Hereditary spherocytosis type 1 [RCV003489302]	likely pathogenic	8	41672850	41672851	Human		alternate_id
404984210	CV2851552	microsatellite	NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)	Hereditary spherocytosis type 1 [RCV003489303]	likely pathogenic	8	41668286	41668287	Human		alternate_id
404984223	CV2851555	single nucleotide variant	NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)	Hereditary spherocytosis type 1 [RCV003489306]	likely pathogenic	8	41708846	41708846	Human	1	alternate_id
404984230	CV2851556	deletion	NM_000037.4(ANK1):c.3954del (p.Arg1319fs)	Hereditary spherocytosis type 1 [RCV003489307]	likely pathogenic	8	41690504	41690504	Human	1	alternate_id
404984248	CV2851559	deletion	NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)	Hereditary spherocytosis type 1 [RCV003489310]	likely pathogenic	8	41704413	41704422	Human	1	alternate_id
404984253	CV2851560	deletion	NM_000037.4(ANK1):c.5164del (p.Gln1722fs)	Hereditary spherocytosis type 1 [RCV003489311]	likely pathogenic	8	41668497	41668497	Human	1	alternate_id
404984258	CV2851561	insertion	NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)	Hereditary spherocytosis type 1 [RCV003489312]	likely pathogenic	8	41694768	41694769	Human	1	alternate_id
404984267	CV2851563	deletion	NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)	Hereditary spherocytosis type 1 [RCV003489314]	likely pathogenic	8	41684588	41684589	Human	1	alternate_id
404984272	CV2851564	deletion	NM_000037.4(ANK1):c.511_541del (p.Lys171fs)	Hereditary spherocytosis type 1 [RCV003489315]	likely pathogenic	8	41725832	41725862	Human	1	alternate_id
404984278	CV2851565	deletion	NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)	Hereditary spherocytosis type 1 [RCV003489316]	likely pathogenic	8	41758115	41758118	Human	1	alternate_id
404984282	CV2851566	deletion	NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)	Hereditary spherocytosis type 1 [RCV003489317]	likely pathogenic	8	41672603	41672615	Human	1	alternate_id
404984295	CV2851569	deletion	NM_000037.4(ANK1):c.547_559del (p.Asn183fs)	Hereditary spherocytosis type 1 [RCV003489320]	likely pathogenic	8	41725814	41725826	Human	1	alternate_id
404984301	CV2851570	deletion	NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)	Hereditary spherocytosis type 1 [RCV003489321]	likely pathogenic	8	41693170	41693171	Human	1	alternate_id
404984306	CV2851571	single nucleotide variant	NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)	Hereditary spherocytosis type 1 [RCV003489322]	likely pathogenic	8	41708843	41708843	Human	1	alternate_id
404984312	CV2851572	single nucleotide variant	NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)	Hereditary spherocytosis type 1 [RCV003489323]	likely pathogenic	8	41715717	41715717	Human	1	alternate_id
404986145	CV2897450	single nucleotide variant	NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)	Hereditary spherocytosis type 1 [RCV003741359]\|not provided [RCV003563127]	pathogenic	8	41715020	41715020	Human	1	alternate_id
11606205	CV305272	single nucleotide variant	NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp)	Hereditary spherocytosis type 1 [RCV000328561]\|Spherocytosis [RCV001164544]	uncertain significance	8	41661495	41661495	Human	3	alternate_id
11654485	CV305279	single nucleotide variant	NM_000037.4(ANK1):c.5008G>A (p.Val1670Met)	Hereditary spherocytosis type 1 [RCV000317785]\|Spherocytosis [RCV001162603]	uncertain significance	8	41672442	41672442	Human	3	alternate_id
11607536	CV305295	single nucleotide variant	NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)	Hereditary spherocytosis type 1 [RCV000344876]\|Spherocytosis [RCV001164868]\|not provided [RCV000415950]	conflicting interpretations of pathogenicity\|uncertain significance	8	41692854	41692854	Human	3	alternate_id
11600468	CV305309	single nucleotide variant	NM_000037.4(ANK1):c.1628C>T (p.Ala543Val)	Hereditary spherocytosis type 1 [RCV000273925]\|Inborn genetic diseases [RCV004984853]\|Spherocytosis [RCV001165204]	uncertain significance	8	41715049	41715049	Human	4	alternate_id
11608181	CV305312	single nucleotide variant	NM_000037.4(ANK1):c.1178C>T (p.Thr393Met)	Hereditary spherocytosis type 1 [RCV000351772]\|Spherocytosis [RCV001158607]\|not provided [RCV001508244]	uncertain significance	8	41718134	41718134	Human	3	alternate_id
11655388	CV305327	single nucleotide variant	NM_000037.4(ANK1):c.617G>A (p.Gly206Glu)	Hereditary spherocytosis type 1 [RCV000325358]\|Spherocytosis [RCV001163451]	uncertain significance	8	41724550	41724550	Human	3	alternate_id
405057033	CV3081316	single nucleotide variant	NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)	Hereditary spherocytosis type 1 [RCV003741138]	uncertain significance	8	41701616	41701616	Human	1	alternate_id
405057040	CV3081337	single nucleotide variant	NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)	Hereditary spherocytosis type 1 [RCV003741139]	uncertain significance	8	41694741	41694741	Human	1	alternate_id
405057095	CV3081465	single nucleotide variant	NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)	Hereditary spherocytosis type 1 [RCV003741146]	pathogenic	8	41661890	41661890	Human	1	alternate_id
405061580	CV3081565	single nucleotide variant	NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)	Hereditary spherocytosis type 1 [RCV003741613]	uncertain significance	8	41693181	41693181	Human	1	alternate_id
405061600	CV3081650	deletion	NM_000037.4(ANK1):c.5298del (p.Glu1767fs)	Hereditary spherocytosis type 1 [RCV003741616]	pathogenic	8	41668363	41668363	Human	1	alternate_id
11600959	CV309076	single nucleotide variant	NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)	Hereditary spherocytosis type 1 [RCV000278155]\|Spherocytosis [RCV001162602]\|not provided [RCV001861323]	conflicting interpretations of pathogenicity\|uncertain significance	8	41672405	41672405	Human	3	alternate_id
11611813	CV309078	single nucleotide variant	NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile)	Hereditary spherocytosis type 1 [RCV000400129]\|Spherocytosis [RCV001164660]	uncertain significance	8	41672814	41672814	Human	3	alternate_id
11607370	CV309087	single nucleotide variant	NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)	Hereditary spherocytosis type 1 [RCV000342943]\|Spherocytosis [RCV001161365]\|not provided [RCV000962919]	benign\|likely benign\|uncertain significance	8	41694031	41694031	Human	3	alternate_id
11603290	CV309091	single nucleotide variant	NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)	Hereditary spherocytosis type 1 [RCV000298525]\|Spherocytosis [RCV001162912]\|not provided [RCV000885197]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41694637	41694637	Human	3	alternate_id
11609488	CV309117	single nucleotide variant	NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)	Hereditary spherocytosis type 1 [RCV001000407]\|Spherocytosis [RCV001164987]\|not provided [RCV000956602]	benign\|likely benign\|uncertain significance	8	41695259	41695259	Human	3	alternate_id
11609512	CV309136	single nucleotide variant	NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln)	Hereditary spherocytosis type 1 [RCV000369015]\|Spherocytosis [RCV001165201]	uncertain significance	8	41715004	41715004	Human	3	alternate_id
11610363	CV309153	single nucleotide variant	NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile)	Hereditary spherocytosis type 1 [RCV000380462]\|Inborn genetic diseases [RCV003298414]\|Spherocytosis [RCV001163228]	uncertain significance	8	41715839	41715839	Human	4	alternate_id
11610073	CV309161	single nucleotide variant	NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)	Hereditary spherocytosis type 1 [RCV000376292]\|Inborn genetic diseases [RCV004022072]\|Spherocytosis [RCV001165326]\|not provided [RCV000913010]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41717020	41717020	Human	4	alternate_id
11609371	CV309162	single nucleotide variant	NM_000037.4(ANK1):c.985G>T (p.Ala329Ser)	Hereditary spherocytosis type 1 [RCV000367166]\|Inborn genetic diseases [RCV004984854]\|Spherocytosis [RCV001163345]	uncertain significance	8	41719783	41719783	Human	4	alternate_id
11599367	CV314339	single nucleotide variant	NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)	Hereditary spherocytosis type 1 [RCV000265150]\|Spherocytosis [RCV001159631]\|not provided [RCV000915662]	likely benign\|uncertain significance	8	41668285	41668285	Human	3	alternate_id
11605692	CV314341	single nucleotide variant	NM_000037.4(ANK1):c.5289A>G (p.Thr1763=)	Hereditary spherocytosis type 1 [RCV000322604]\|Spherocytosis [RCV001159632]	uncertain significance	8	41668372	41668372	Human	3	alternate_id
11604083	CV314351	single nucleotide variant	NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr)	Hereditary spherocytosis type 1 [RCV000305999]\|Spherocytosis [RCV001164759]	uncertain significance	8	41690271	41690271	Human	3	alternate_id
11609930	CV314359	single nucleotide variant	NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val)	Hereditary spherocytosis type 1 [RCV000374782]\|Spherocytosis [RCV001162604]	uncertain significance	8	41672474	41672474	Human	3	alternate_id
11602993	CV314368	single nucleotide variant	NM_000037.4(ANK1):c.4607G>A (p.Arg1536His)	Hereditary spherocytosis type 1 [RCV000295632]\|Spherocytosis [RCV001164661]	uncertain significance	8	41672843	41672843	Human	3	alternate_id
11644805	CV314371	single nucleotide variant	NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val)	Hereditary spherocytosis type 1 [RCV000261773]\|Spherocytosis [RCV001159841]	uncertain significance	8	41690294	41690294	Human	3	alternate_id
11603927	CV314375	single nucleotide variant	NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln)	Hereditary spherocytosis type 1 [RCV000304415]\|Spherocytosis [RCV001161364]	uncertain significance	8	41693987	41693987	Human	3	alternate_id
11612373	CV314376	single nucleotide variant	NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)	Hereditary spherocytosis type 1 [RCV000407860]\|Spherocytosis [RCV001162911]\|not provided [RCV000923611]	likely benign\|uncertain significance	8	41694631	41694631	Human	3	alternate_id
11608235	CV314383	single nucleotide variant	NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser)	Hereditary spherocytosis type 1 [RCV000352733]\|Inborn genetic diseases [RCV004984852]\|Spherocytosis [RCV001159737]	uncertain significance	8	41672909	41672909	Human	4	alternate_id
11664612	CV314384	single nucleotide variant	NM_000037.4(ANK1):c.4524C>T (p.Pro1508=)	Hereditary spherocytosis type 1 [RCV000407327]\|Spherocytosis [RCV001159738]	uncertain significance	8	41684557	41684557	Human	3	alternate_id
11609191	CV314385	single nucleotide variant	NM_000037.4(ANK1):c.4497C>T (p.His1499=)	Hereditary spherocytosis type 1 [RCV000365014]\|Spherocytosis [RCV001161135]	uncertain significance	8	41684584	41684584	Human	3	alternate_id
11608502	CV314387	single nucleotide variant	NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)	Hereditary spherocytosis type 1 [RCV000355813]\|Spherocytosis [RCV001164983]\|not provided [RCV003430950]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41694685	41694685	Human	3	alternate_id
11602075	CV314391	single nucleotide variant	NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)	Hereditary spherocytosis type 1 [RCV000287527]\|Spherocytosis [RCV001162799]\|not provided [RCV000956601]	benign\|likely benign	8	41692693	41692693	Human	3	alternate_id
11611384	CV314392	single nucleotide variant	NM_000037.4(ANK1):c.2167C>A (p.His723Asn)	Hereditary spherocytosis type 1 [RCV000393953]\|Inborn genetic diseases [RCV002524563]\|Spherocytosis [RCV001161593]\|not provided [RCV000963224]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41704403	41704403	Human	4	alternate_id
11607840	CV314398	single nucleotide variant	NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln)	Hereditary spherocytosis type 1 [RCV000348030]\|Spherocytosis [RCV001161595]\|not provided [RCV005090601]	uncertain significance	8	41706144	41706144	Human	3	alternate_id
11605180	CV314402	single nucleotide variant	NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser)	Hereditary spherocytosis type 1 [RCV000316613]\|Inborn genetic diseases [RCV004639227]\|Spherocytosis [RCV001161703]	uncertain significance	8	41715768	41715768	Human	4	alternate_id
11604775	CV314415	single nucleotide variant	NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser)	Hereditary spherocytosis type 1 [RCV000312238]\|Spherocytosis [RCV001161828]	uncertain significance	8	41719712	41719712	Human	3	alternate_id
11649774	CV314423	single nucleotide variant	NM_000037.4(ANK1):c.649G>A (p.Glu217Lys)	Hereditary spherocytosis type 1 [RCV000289107]\|Spherocytosis [RCV001161931]	uncertain significance	8	41724518	41724518	Human	3	alternate_id
405724922	CV3235028	single nucleotide variant	NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu)	Hereditary spherocytosis type 1 [RCV004018055]	uncertain significance	8	41661476	41661476	Human	1	alternate_id
405866742	CV3401151	single nucleotide variant	NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)	Hereditary spherocytosis type 1 [RCV004577268]	uncertain significance	8	41694639	41694639	Human	1	alternate_id
407460086	CV3496911	single nucleotide variant	NM_000037.4(ANK1):c.1624G>A (p.Val542Met)	Hereditary spherocytosis type 1 [RCV004698726]\|Inborn genetic diseases [RCV004987187]	benign\|uncertain significance	8	41715053	41715053	Human	2	alternate_id
408368265	CV3500556	single nucleotide variant	NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)	Hereditary spherocytosis type 1 [RCV004723684]	likely pathogenic	8	41695180	41695180	Human	1	alternate_id
408394638	CV3521558	single nucleotide variant	NM_000037.4(ANK1):c.1319C>T (p.Pro440Leu)	Hereditary spherocytosis type 1 [RCV004764356]	pathogenic\|uncertain significance	8	41717038	41717038	Human	1	alternate_id
408394095	CV3521718	indel	NM_000037.4(ANK1):c.290_291delinsCAAC (p.Leu97fs)	Hereditary spherocytosis type 1 [RCV004764517]	likely pathogenic	8	41727944	41727945	Human		alternate_id
408394248	CV3521787	indel	NM_000037.4(ANK1):c.389_390delinsCAAC (p.Leu130fs)	Hereditary spherocytosis type 1 [RCV004764586]	likely pathogenic	8	41727286	41727287	Human		alternate_id
408393700	CV3526141	single nucleotide variant	NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg)	Hereditary spherocytosis type 1 [RCV004771573]	likely pathogenic	8	41693181	41693181	Human	1	alternate_id
596924909	CV3536813	duplication	NM_000037.4(ANK1):c.1487_1488dup (p.Asn497fs)	Hereditary spherocytosis type 1 [RCV004785807]	likely pathogenic	8	41715765	41715766	Human	1	alternate_id
596924911	CV3536814	single nucleotide variant	NM_000037.4(ANK1):c.3068G>A (p.Arg1023His)	Hereditary spherocytosis type 1 [RCV004785808]	uncertain significance	8	41695224	41695224	Human	1	alternate_id
596925015	CV3536868	single nucleotide variant	NM_000037.4(ANK1):c.5207G>T (p.Ser1736Ile)	Hereditary spherocytosis type 1 [RCV004785862]\|Inborn genetic diseases [RCV005363364]	uncertain significance	8	41668454	41668454	Human	2	alternate_id
596928068	CV3541352	duplication	NM_000037.4(ANK1):c.4095dup (p.Cys1366fs)	Hereditary spherocytosis type 1 [RCV004797223]	likely pathogenic	8	41690235	41690236	Human	1	alternate_id
596928356	CV3541470	single nucleotide variant	NM_000037.4(ANK1):c.2230C>T (p.Gln744Ter)	Hereditary spherocytosis type 1 [RCV004797342]	pathogenic	8	41704106	41704106	Human	1	alternate_id
596926354	CV3542247	single nucleotide variant	NM_000037.4(ANK1):c.4253G>A (p.Trp1418Ter)	Hereditary spherocytosis type 1 [RCV004796462]	pathogenic	8	41688161	41688161	Human	1	alternate_id
596938417	CV3550204	single nucleotide variant	NM_000037.4(ANK1):c.5230C>G (p.Pro1744Ala)	Hereditary spherocytosis type 1 [RCV004813506]\|Inborn genetic diseases [RCV004987252]	uncertain significance	8	41668431	41668431	Human	2	alternate_id
596938375	CV3550219	single nucleotide variant	NM_000037.4(ANK1):c.2637G>T (p.Gln879His)	Hereditary spherocytosis type 1 [RCV004813521]	likely pathogenic	8	41698043	41698043	Human	1	alternate_id
12741734	CV360899	single nucleotide variant	NM_000037.4(ANK1):c.1948A>G (p.Met650Val)	Anemia [RCV000415020]\|Hereditary spherocytosis type 1 [RCV001197413]	uncertain significance	8	41708828	41708828	Human	3	alternate_id
12834112	CV371864	single nucleotide variant	NM_000037.4(ANK1):c.563C>T (p.Thr188Met)	Hereditary spherocytosis type 1 [RCV003488587]\|not provided [RCV000419791]	uncertain significance	8	41725810	41725810	Human	1	alternate_id
597652422	CV3722775	single nucleotide variant	NM_000037.4(ANK1):c.2267A>G (p.Asn756Ser)	Hereditary spherocytosis type 1 [RCV005041216]	uncertain significance	8	41704069	41704069	Human	1	alternate_id
597652429	CV3722776	single nucleotide variant	NM_000037.4(ANK1):c.1273C>T (p.Gln425Ter)	Hereditary spherocytosis type 1 [RCV005041217]	pathogenic	8	41717636	41717636	Human	1	alternate_id
597833074	CV3734784	single nucleotide variant	NM_000037.4(ANK1):c.5162G>A (p.Trp1721Ter)	Hereditary spherocytosis type 1 [RCV005054517]	likely pathogenic	8	41668499	41668499	Human	1	alternate_id
598127393	CV3882636	deletion	NM_000037.4(ANK1):c.3245_3248del (p.Gly1081_Ser1082insTer)	Hereditary spherocytosis type 1 [RCV005234166]	pathogenic	8	41694671	41694674	Human	1	alternate_id
598127401	CV3882641	single nucleotide variant	NM_000037.4(ANK1):c.2123C>A (p.Ala708Asp)	Hereditary spherocytosis type 1 [RCV005234171]	uncertain significance	8	41704447	41704447	Human	1	alternate_id
598127418	CV3882651	deletion	NM_000037.4(ANK1):c.3449del (p.Pro1150fs)	Hereditary spherocytosis type 1 [RCV005234181]	pathogenic	8	41693981	41693981	Human	1	alternate_id
598127474	CV3882686	deletion	NM_000037.4(ANK1):c.4145del (p.Leu1382fs)	Hereditary spherocytosis type 1 [RCV005234216]	likely pathogenic	8	41688549	41688549	Human	1	alternate_id
598127498	CV3882702	single nucleotide variant	NM_000037.4(ANK1):c.2044C>G (p.Pro682Ala)	Hereditary spherocytosis type 1 [RCV005234232]	uncertain significance	8	41706196	41706196	Human	1	alternate_id
598127581	CV3882754	single nucleotide variant	NM_000037.4(ANK1):c.1696G>A (p.Gly566Arg)	Hereditary spherocytosis type 1 [RCV005234285]	uncertain significance	8	41714981	41714981	Human	1	alternate_id
598127582	CV3882755	single nucleotide variant	NM_000037.4(ANK1):c.1753G>A (p.Val585Ile)	Hereditary spherocytosis type 1 [RCV005234286]	uncertain significance	8	41714203	41714203	Human	1	alternate_id
598127721	CV3882840	indel	NM_000037.4(ANK1):c.975_976delinsTT (p.Leu325_Gln326delinsPheTer)	Hereditary spherocytosis type 1 [RCV005234371]	pathogenic	8	41719792	41719793	Human		alternate_id
598127783	CV3882879	microsatellite	NM_000037.4(ANK1):c.5001_5002del (p.Glu1667_Asn1668insTer)	Hereditary spherocytosis type 1 [RCV005234411]	pathogenic	8	41672448	41672449	Human		alternate_id
598127835	CV3882913	single nucleotide variant	NM_000037.4(ANK1):c.4607G>C (p.Arg1536Pro)	Hereditary spherocytosis type 1 [RCV005234446]	uncertain significance	8	41672843	41672843	Human	1	alternate_id
598128043	CV3883059	deletion	NM_000037.4(ANK1):c.3648_3658del (p.Cys1216_Pro1217insTer)	Hereditary spherocytosis type 1 [RCV005234592]	likely pathogenic	8	41692848	41692858	Human	1	alternate_id
598128130	CV3883149	single nucleotide variant	NM_000037.4(ANK1):c.1942G>A (p.Ala648Thr)	Hereditary spherocytosis type 1 [RCV005234682]	uncertain significance	8	41708834	41708834	Human	1	alternate_id
598128131	CV3883150	single nucleotide variant	NM_000037.4(ANK1):c.2854C>T (p.Arg952Cys)	Hereditary spherocytosis type 1 [RCV005234683]	uncertain significance	8	41696469	41696469	Human	1	alternate_id
598191957	CV3890734	deletion	NM_000037.4(ANK1):c.5283del (p.Trp1762fs)	Hereditary spherocytosis type 1 [RCV005251598]	likely pathogenic	8	41668378	41668378	Human	1	alternate_id
598218299	CV3891645	single nucleotide variant	NM_000037.4(ANK1):c.3026T>C (p.Leu1009Pro)	Hereditary spherocytosis type 1 [RCV005252487]	uncertain significance	8	41695266	41695266	Human	1	alternate_id
598223121	CV3892203	microsatellite	NM_000037.4(ANK1):c.3493_3496del (p.Gly1165fs)	Hereditary spherocytosis type 1 [RCV005253542]	likely pathogenic	8	41693934	41693937	Human		alternate_id
616937256	CV4011399	single nucleotide variant	NM_000037.4(ANK1):c.1800G>A (p.Trp600Ter)	Hereditary spherocytosis type 1 [RCV005407480]	likely pathogenic	8	41714156	41714156	Human	1	alternate_id
616937254	CV4011400	single nucleotide variant	NM_000037.4(ANK1):c.5359C>T (p.Gln1787Ter)	Hereditary spherocytosis type 1 [RCV005407481]	likely pathogenic	8	41668302	41668302	Human	1	alternate_id
13627230	CV535247	single nucleotide variant	NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter)	Hereditary spherocytosis type 1 [RCV000655896]	pathogenic	8	41668509	41668509	Human	1	alternate_id
13608855	CV535248	single nucleotide variant	NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	Hereditary spherocytosis type 1 [RCV000655899]\|not provided [RCV002275141]	pathogenic	8	41684619	41684619	Human	1	alternate_id
14393491	CV609693	single nucleotide variant	NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile)	Hereditary spherocytosis type 1 [RCV000755814]\|not provided [RCV003546594]	uncertain significance	8	41672399	41672399	Human	1	alternate_id
14393488	CV609695	microsatellite	NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs)	Hereditary spherocytosis type 1 [RCV003133585]\|not provided [RCV000755811]	likely pathogenic	8	41693110	41693111	Human		alternate_id
14393493	CV609696	single nucleotide variant	NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter)	Hereditary spherocytosis type 1 [RCV000755817]\|not provided [RCV005092171]	pathogenic\|likely pathogenic	8	41706211	41706211	Human	1	alternate_id
15202173	CV723086	single nucleotide variant	NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)	Hereditary spherocytosis type 1 [RCV001159842]\|Spherocytosis [RCV001159843]\|not provided [RCV000891399]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41690309	41690309	Human	3	alternate_id
15149716	CV723087	single nucleotide variant	NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)	Hereditary spherocytosis type 1 [RCV001164864]\|Spherocytosis [RCV001164865]\|not provided [RCV000879225]	benign\|likely benign\|uncertain significance	8	41692838	41692838	Human	3	alternate_id
15169443	CV723091	single nucleotide variant	NM_000037.4(ANK1):c.1483A>C (p.Asn495His)	Hereditary spherocytosis type 1 [RCV001804043]\|not provided [RCV000883267]	likely benign\|conflicting interpretations of pathogenicity	8	41715771	41715771	Human	1	alternate_id
15106036	CV723093	single nucleotide variant	NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)	Hereditary spherocytosis type 1 [RCV001163232]\|not provided [RCV000893197]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41716970	41716970	Human	1	alternate_id
15151363	CV736648	single nucleotide variant	NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr)	Hereditary spherocytosis type 1 [RCV003741233]\|Inborn genetic diseases [RCV004629377]\|not provided [RCV000901349]	likely benign	8	41690232	41690232	Human	2	alternate_id
15156899	CV751139	single nucleotide variant	NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)	Hereditary spherocytosis type 1 [RCV001002429]\|not provided [RCV000924756]\|not specified [RCV005231971]	likely benign\|uncertain significance	8	41684633	41684633	Human	1	alternate_id
15199942	CV751140	single nucleotide variant	NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)	Hereditary spherocytosis type 1 [RCV001162696]\|Spherocytosis [RCV001161141]\|not provided [RCV000912699]	likely benign\|uncertain significance	8	41686201	41686201	Human	3	name , alternate_id
15146960	CV751141	single nucleotide variant	NM_000037.4(ANK1):c.4023G>A (p.Ser1341=)	Hereditary spherocytosis type 1 [RCV003741235]\|not provided [RCV000922809]	likely benign	8	41690308	41690308	Human	1	alternate_id
15167477	CV751145	single nucleotide variant	NM_000037.4(ANK1):c.3468C>T (p.Thr1156=)	Hereditary spherocytosis type 1 [RCV005231972]\|not provided [RCV000927096]	likely benign	8	41693962	41693962	Human	1	alternate_id
15148101	CV751146	single nucleotide variant	NM_000037.4(ANK1):c.3342G>A (p.Pro1114=)	Hereditary spherocytosis type 1 [RCV003117645]\|not provided [RCV000923034]	likely benign	8	41694088	41694088	Human	1	alternate_id
15137458	CV766806	single nucleotide variant	NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)	Hereditary spherocytosis type 1 [RCV001159954]\|Spherocytosis [RCV001159955]\|not provided [RCV000943243]	benign\|likely benign\|uncertain significance	8	41693164	41693164	Human	3	alternate_id
21406304	CV799540	single nucleotide variant	NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	Hereditary spherocytosis type 1 [RCV001002452]\|not provided [RCV005093024]	pathogenic\|conflicting interpretations of pathogenicity	8	41686236	41686236	Human	1	alternate_id
21406315	CV799541	single nucleotide variant	NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)	Hereditary spherocytosis type 1 [RCV001002482]	pathogenic	8	41688541	41688541	Human	1	alternate_id
21405721	CV799542	single nucleotide variant	NM_000037.4(ANK1):c.3770G>A (p.Arg1257His)	Hereditary spherocytosis type 1 [RCV001001053]	uncertain significance	8	41692736	41692736	Human	1	alternate_id
21406278	CV799543	single nucleotide variant	NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter)	Hereditary spherocytosis type 1 [RCV001002400]	pathogenic	8	41693179	41693179	Human	1	alternate_id
21405407	CV799544	single nucleotide variant	NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg)	Hereditary spherocytosis type 1 [RCV001000374]\|Inborn genetic diseases [RCV004030258]\|not provided [RCV004792602]	uncertain significance	8	41694690	41694690	Human	2	alternate_id
21406193	CV799546	single nucleotide variant	NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln)	Hereditary spherocytosis type 1 [RCV001002212]\|Inborn genetic diseases [RCV004030269]\|not provided [RCV005093022]	uncertain significance	8	41717632	41717632	Human	2	alternate_id
25314917	CV818256	deletion	NM_000037.4(ANK1):c.4051del (p.Asp1351fs)	Hereditary spherocytosis type 1 [RCV001029896]	likely pathogenic	8	41690280	41690280	Human	1	alternate_id
8633010	CV88224	single nucleotide variant	NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)	Hereditary spherocytosis type 1 [RCV001802337]\|not provided [RCV002541361]	uncertain significance\|not provided	8	41694740	41694740	Human	1	alternate_id
28909960	CV899570	single nucleotide variant	NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg)	Hereditary spherocytosis type 1 [RCV001161010]\|Spherocytosis [RCV001161011]	uncertain significance	8	41668453	41668453	Human	3	alternate_id
28909962	CV899571	single nucleotide variant	NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met)	Hereditary spherocytosis type 1 [RCV001161012]\|Spherocytosis [RCV001161013]	uncertain significance	8	41668484	41668484	Human	3	alternate_id
28868613	CV899572	single nucleotide variant	NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)	Hereditary spherocytosis type 1 [RCV001162599]\|Inborn genetic diseases [RCV002557374]\|Spherocytosis [RCV001161014]	uncertain significance	8	41668542	41668542	Human	4	alternate_id
28868774	CV899575	single nucleotide variant	NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)	Hereditary spherocytosis type 1 [RCV001162701]\|Inborn genetic diseases [RCV004986856]\|Spherocytosis [RCV001164753]\|not provided [RCV003769785]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	41688558	41688558	Human	4	alternate_id
28868929	CV899576	single nucleotide variant	NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val)	Hereditary spherocytosis type 1 [RCV001162792]\|Spherocytosis [RCV001161251]	uncertain significance	8	41690487	41690487	Human	3	alternate_id
28868930	CV899577	single nucleotide variant	NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)	Hereditary spherocytosis type 1 [RCV001162794]\|Inborn genetic diseases [RCV002559556]\|Spherocytosis [RCV001162793]\|not provided [RCV002558554]	uncertain significance	8	41690503	41690503	Human	4	alternate_id
28868933	CV899578	single nucleotide variant	NM_000037.4(ANK1):c.3941A>C (p.His1314Pro)	Hereditary spherocytosis type 1 [RCV001162795]\|Inborn genetic diseases [RCV003363125]\|Spherocytosis [RCV001162796]	uncertain significance	8	41690517	41690517	Human	4	alternate_id
28873390	CV899580	single nucleotide variant	NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr)	Hereditary spherocytosis type 1 [RCV001164862]\|Spherocytosis [RCV001164863]	uncertain significance	8	41692797	41692797	Human	3	alternate_id
28873397	CV899581	single nucleotide variant	NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln)	Hereditary spherocytosis type 1 [RCV001164867]\|Spherocytosis [RCV001164866]	uncertain significance	8	41692853	41692853	Human	3	alternate_id
28910363	CV899582	single nucleotide variant	NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn)	Hereditary spherocytosis type 1 [RCV001161362]\|Spherocytosis [RCV001161363]	uncertain significance	8	41693961	41693961	Human	3	alternate_id
28908357	CV899584	single nucleotide variant	NM_000037.4(ANK1):c.3002G>A (p.Arg1001His)	Hereditary spherocytosis type 1 [RCV001160073]\|Spherocytosis [RCV001160072]\|not provided [RCV002558514]	uncertain significance	8	41695290	41695290	Human	3	alternate_id
28908362	CV899585	single nucleotide variant	NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu)	Hereditary spherocytosis type 1 [RCV001160077]\|Spherocytosis [RCV001160076]	uncertain significance	8	41695311	41695311	Human	3	alternate_id
28869266	CV899588	single nucleotide variant	NM_000037.4(ANK1):c.2713G>A (p.Val905Met)	Hereditary spherocytosis type 1 [RCV001163012]\|Spherocytosis [RCV001163013]\|not provided [RCV005093678]	uncertain significance	8	41696698	41696698	Human	3	alternate_id
28869506	CV899589	single nucleotide variant	NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)	Hereditary spherocytosis type 1 [RCV001163123]\|Inborn genetic diseases [RCV004986858]\|not provided [RCV002261295]	conflicting interpretations of pathogenicity\|uncertain significance	8	41708917	41708917	Human	2	alternate_id
28905542	CV899591	single nucleotide variant	NM_000037.4(ANK1):c.1535G>A (p.Arg512His)	Hereditary spherocytosis type 1 [RCV001158493]\|Spherocytosis [RCV001158492]	uncertain significance	8	41715719	41715719	Human	3	alternate_id
28910794	CV899593	single nucleotide variant	NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser)	Hereditary spherocytosis type 1 [RCV001161707]\|Spherocytosis [RCV001161706]	uncertain significance	8	41715813	41715813	Human	3	alternate_id
28867344	CV899597	single nucleotide variant	NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser)	Hereditary spherocytosis type 1 [RCV001161826]\|Spherocytosis [RCV001161827]	uncertain significance	8	41718195	41718195	Human	3	alternate_id
38462102	CV919153	single nucleotide variant	NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)	Hereditary spherocytosis type 1 [RCV001198178]	likely pathogenic	8	41672595	41672595	Human	1	alternate_id
150339797	CV980862	deletion	NM_000037.4(ANK1):c.4541del (p.Tyr1514fs)	Hereditary spherocytosis type 1 [RCV001534605]	pathogenic	8	41672909	41672909	Human	1	alternate_id
150339799	CV980863	single nucleotide variant	NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	Hereditary spherocytosis type 1 [RCV001534607]	pathogenic	8	41690274	41690274	Human	1	alternate_id
150339798	CV980864	duplication	NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)	Hereditary spherocytosis type 1 [RCV001534606]	pathogenic	8	41715823	41715824	Human	1	alternate_id
41405017	CV981627	single nucleotide variant	NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile)	Hereditary spherocytosis type 1 [RCV001285077]	uncertain significance	8	41692789	41692789	Human	1	alternate_id
41405375	CV981628	single nucleotide variant	NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr)	Hereditary spherocytosis type 1 [RCV001286123]	uncertain significance	8	41693133	41693133	Human	1	alternate_id
41407367	CV981630	single nucleotide variant	NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp)	Hereditary spherocytosis type 1 [RCV001289694]	uncertain significance	8	41694717	41694717	Human	1	alternate_id
41405725	CV981631	deletion	NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs)	Hereditary spherocytosis type 1 [RCV001287319]	pathogenic	8	41695197	41695200	Human	1	alternate_id
41405600	CV981632	single nucleotide variant	NM_000037.4(ANK1):c.2972T>G (p.Val991Gly)	Hereditary spherocytosis type 1 [RCV001286927]	uncertain significance	8	41695320	41695320	Human	1	alternate_id
41405066	CV981633	single nucleotide variant	NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys)	Hereditary spherocytosis type 1 [RCV001285219]	uncertain significance	8	41696424	41696424	Human	1	alternate_id
41405397	CV981635	single nucleotide variant	NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu)	Hereditary spherocytosis type 1 [RCV001286202]	uncertain significance	8	41699502	41699502	Human	1	alternate_id
41407369	CV981638	single nucleotide variant	NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro)	Hereditary spherocytosis type 1 [RCV001289697]	uncertain significance	8	41704078	41704078	Human	1	alternate_id
41405607	CV981639	single nucleotide variant	NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter)	Hereditary spherocytosis type 1 [RCV001286935]\|not provided [RCV004793377]	pathogenic\|likely pathogenic	8	41704406	41704406	Human	1	alternate_id
41405354	CV981640	single nucleotide variant	NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter)	Hereditary spherocytosis type 1 [RCV001286066]\|not provided [RCV005428163]	pathogenic	8	41708885	41708885	Human	1	alternate_id
41407358	CV981642	single nucleotide variant	NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly)	Hereditary spherocytosis type 1 [RCV001289661]	uncertain significance	8	41714185	41714185	Human	1	alternate_id

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