Tubb4 Variant Search Result - Rat Genome Database

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488 records found for search term Tubb4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
407427228	CV3410544	single nucleotide variant	NM_006087.4(TUBB4A):c.-5C>G	not specified [RCV004586191]	uncertain significance	19	6502217	6502217	Human		name
12833023	CV378154	single nucleotide variant	NM_006087.4(TUBB4A):c.*3T>C	Hypomyelinating leukodystrophy 6 [RCV001135682]\|Torsion dystonia 4 [RCV001135681]\|not specified [RCV000417707]	benign	19	6495161	6495161	Human	2	name , alternate_id
150334624	CV1171952	single nucleotide variant	NM_006088.6(TUBB4B):c.-29C>A	not provided [RCV001540147]	benign	9	137241332	137241332	Human		name
150472013	CV1236272	single nucleotide variant	NM_006088.6(TUBB4B):c.-62G>T	not provided [RCV001651357]	benign	9	137241299	137241299	Human		name
11612695	CV334442	single nucleotide variant	NM_006087.4(TUBB4A):c.*53G>A	Hypomyelinating leukodystrophy 6 [RCV000261904]\|Torsion dystonia 4 [RCV000317082]	likely benign	19	6495111	6495111	Human	2	name , alternate_id
11628468	CV344324	single nucleotide variant	NM_006087.4(TUBB4A):c.*96C>G	Hypomyelinating leukodystrophy 6 [RCV000356852]\|Torsion dystonia 4 [RCV000301983]\|not provided [RCV001718693]	benign	19	6495068	6495068	Human	2	name , alternate_id
11626921	CV344326	single nucleotide variant	NM_006087.4(TUBB4A):c.-62C>T	Hypomyelinating leukodystrophy 6 [RCV000271951]\|Torsion dystonia 4 [RCV000366621]	benign\|likely benign	19	6502274	6502274	Human	2	name , alternate_id
13534777	CV507591	single nucleotide variant	NM_006087.4(TUBB4A):c.-31C>A	not specified [RCV000607435]	likely benign	19	6502243	6502243	Human		name
28875860	CV882576	single nucleotide variant	NM_006087.4(TUBB4A):c.*86G>A	Hypomyelinating leukodystrophy 6 [RCV001134178]\|Torsion dystonia 4 [RCV001134179]	uncertain significance	19	6495078	6495078	Human	2	name , alternate_id
28875867	CV882577	single nucleotide variant	NM_006087.4(TUBB4A):c.*69C>G	Hypomyelinating leukodystrophy 6 [RCV001134180]\|Torsion dystonia 4 [RCV001134181]	benign	19	6495095	6495095	Human	2	name , alternate_id
28879818	CV882578	single nucleotide variant	NM_006087.4(TUBB4A):c.*36C>G	Hypomyelinating leukodystrophy 6 [RCV001135679]\|Torsion dystonia 4 [RCV001135680]	benign	19	6495128	6495128	Human	2	name , alternate_id
152148566	CV1618914	single nucleotide variant	NM_006087.4(TUBB4A):c.57+7G>C	Hypomyelinating leukodystrophy 6 [RCV002121425]	likely benign	19	6502149	6502149	Human	1	name , alternate_id
156437123	CV1936952	single nucleotide variant	NM_006088.6(TUBB4B):c.58-7C>T	not provided [RCV003106654]	likely benign	9	137241714	137241714	Human		name
405193384	CV2928390	single nucleotide variant	NM_006088.6(TUBB4B):c.58-3T>C	not provided [RCV003565047]	uncertain significance	9	137241718	137241718	Human		name
402518607	CV3136005	duplication	NM_006088.6(TUBB4B):c.58-4dup	not provided [RCV003824631]	likely benign	9	137241716	137241717	Human		name
11613166	CV334439	single nucleotide variant	NM_006087.4(TUBB4A):c.*804C>G	Hypomyelinating leukodystrophy 6 [RCV000266042]\|Torsion dystonia 4 [RCV000358613]\|not provided [RCV004717327]	benign	19	6494360	6494360	Human	2	name , alternate_id
11619899	CV334441	single nucleotide variant	NM_006087.4(TUBB4A):c.*493C>G	Hypomyelinating leukodystrophy 6 [RCV000330873]\|Torsion dystonia 4 [RCV000387713]	benign\|likely benign	19	6494671	6494671	Human	2	name , alternate_id
11626995	CV344317	single nucleotide variant	NM_006087.4(TUBB4A):c.*673A>G	Hypomyelinating leukodystrophy 6 [RCV000273358]\|Torsion dystonia 4 [RCV000384213]\|not provided [RCV004717328]	benign	19	6494491	6494491	Human	2	name , alternate_id
11650892	CV344322	single nucleotide variant	NM_006087.4(TUBB4A):c.*440C>T	Hypomyelinating leukodystrophy 6 [RCV000334472]\|Torsion dystonia 4 [RCV000295816]	uncertain significance	19	6494724	6494724	Human	2	name , alternate_id
11628033	CV344323	single nucleotide variant	NM_006087.4(TUBB4A):c.*429C>T	Hypomyelinating leukodystrophy 6 [RCV000294201]\|Torsion dystonia 4 [RCV000372809]	benign\|likely benign	19	6494735	6494735	Human	2	name , alternate_id
11628573	CV349423	single nucleotide variant	NM_006087.4(TUBB4A):c.*725G>A	Hypomyelinating leukodystrophy 6 [RCV000305037]\|Torsion dystonia 4 [RCV000362026]\|not provided [RCV004718529]	benign\|likely benign	19	6494439	6494439	Human	2	name , alternate_id
11626794	CV349426	single nucleotide variant	NM_006087.4(TUBB4A):c.*700T>A	Hypomyelinating leukodystrophy 6 [RCV000327122]\|Torsion dystonia 4 [RCV000269699]	benign	19	6494464	6494464	Human	2	name , alternate_id
11630391	CV349429	single nucleotide variant	NM_006087.4(TUBB4A):c.*400G>A	Hypomyelinating leukodystrophy 6 [RCV000349098]\|Torsion dystonia 4 [RCV000400034]\|not provided [RCV001613070]	benign	19	6494764	6494764	Human	2	name , alternate_id
11628769	CV349430	single nucleotide variant	NM_006087.4(TUBB4A):c.*260G>C	Hypomyelinating leukodystrophy 6 [RCV000345532]\|Torsion dystonia 4 [RCV000309290]\|not provided [RCV001683326]	benign	19	6494904	6494904	Human	2	name , alternate_id
11628613	CV349432	single nucleotide variant	NM_006087.4(TUBB4A):c.*111G>C	Hypomyelinating leukodystrophy 6 [RCV000400324]\|Torsion dystonia 4 [RCV000305659]\|not provided [RCV001613071]	benign	19	6495053	6495053	Human	2	name , alternate_id
11630855	CV350426	single nucleotide variant	NM_006087.4(TUBB4A):c.*100G>A	Hypomyelinating leukodystrophy 6 [RCV000391165]\|Torsion dystonia 4 [RCV000360512]	benign\|likely benign	19	6495064	6495064	Human	2	name , alternate_id
408389310	CV3529324	single nucleotide variant	NM_006087.3(TUBB4A):c.-117C>G	not provided [RCV004774146]	uncertain significance	19	6502329	6502329	Human		name
596942045	CV3543952	single nucleotide variant	NM_006087.4(TUBB4A):c.-472A>G	not specified [RCV004799942]	uncertain significance	19	6502684	6502684	Human		name
597834736	CV3760799	single nucleotide variant	NM_006088.6(TUBB4B):c.58-8C>T	not provided [RCV005085350]	likely benign	9	137241713	137241713	Human		name
28870267	CV882570	single nucleotide variant	NM_006087.4(TUBB4A):c.*800G>A	Hypomyelinating leukodystrophy 6 [RCV001131103]\|Torsion dystonia 4 [RCV001131102]	uncertain significance	19	6494364	6494364	Human	2	name , alternate_id
28875628	CV882571	single nucleotide variant	NM_006087.4(TUBB4A):c.*792C>T	Hypomyelinating leukodystrophy 6 [RCV001134055]\|Torsion dystonia 4 [RCV001134054]	uncertain significance	19	6494372	6494372	Human	2	name , alternate_id
28879475	CV882572	single nucleotide variant	NM_006087.4(TUBB4A):c.*633C>A	Hypomyelinating leukodystrophy 6 [RCV001135554]\|Torsion dystonia 4 [RCV001135555]	benign	19	6494531	6494531	Human	2	name , alternate_id
28879481	CV882573	single nucleotide variant	NM_006087.4(TUBB4A):c.*627A>C	Hypomyelinating leukodystrophy 6 [RCV001135557]\|Torsion dystonia 4 [RCV001135556]\|not provided [RCV004694838]	uncertain significance	19	6494537	6494537	Human	2	name , alternate_id
28879490	CV882574	single nucleotide variant	NM_006087.4(TUBB4A):c.*579C>T	Hypomyelinating leukodystrophy 6 [RCV001135559]\|Torsion dystonia 4 [RCV001135558]	uncertain significance	19	6494585	6494585	Human	2	name , alternate_id
28869156	CV882575	single nucleotide variant	NM_006087.4(TUBB4A):c.*304C>T	Hypomyelinating leukodystrophy 6 [RCV001130493]\|Torsion dystonia 4 [RCV001130492]	uncertain significance	19	6494860	6494860	Human	2	name , alternate_id
152098985	CV1627174	single nucleotide variant	NM_006087.4(TUBB4A):c.57+13C>T	Hypomyelinating leukodystrophy 6 [RCV002095256]	likely benign	19	6502143	6502143	Human	1	name , alternate_id
152139052	CV1637993	single nucleotide variant	NM_006087.4(TUBB4A):c.57+20C>T	Hypomyelinating leukodystrophy 6 [RCV002177811]	benign	19	6502136	6502136	Human	1	name , alternate_id
152034897	CV1639601	single nucleotide variant	NM_006088.6(TUBB4B):c.57+10C>T	not provided [RCV002187331]	benign	9	137241427	137241427	Human		name
152087964	CV1655519	single nucleotide variant	NM_006088.6(TUBB4B):c.277+7C>T	not provided [RCV002193895]	likely benign	9	137242028	137242028	Human		name
152121298	CV1662192	single nucleotide variant	NM_006087.4(TUBB4A):c.57+12A>G	Hypomyelinating leukodystrophy 6 [RCV002117884]	benign	19	6502144	6502144	Human	1	name , alternate_id
156201500	CV1916801	single nucleotide variant	NM_006088.6(TUBB4B):c.166+7C>T	not provided [RCV002595720]	likely benign	9	137241836	137241836	Human		name
156140028	CV1959659	single nucleotide variant	NM_006088.6(TUBB4B):c.58-16C>T	not provided [RCV002572536]	likely benign	9	137241705	137241705	Human		name
156132321	CV1977098	single nucleotide variant	NM_006088.6(TUBB4B):c.278-4A>G	not provided [RCV002593540]	likely benign\|uncertain significance	9	137242492	137242492	Human		name
156073133	CV2015557	single nucleotide variant	NM_006088.6(TUBB4B):c.57+15C>T	not provided [RCV002705746]	likely benign	9	137241432	137241432	Human		name
156112714	CV2136264	single nucleotide variant	NM_006087.4(TUBB4A):c.166+8G>A	Hypomyelinating leukodystrophy 6 [RCV003002662]	likely benign	19	6501507	6501507	Human	1	name , alternate_id
405068659	CV2879309	single nucleotide variant	NM_006088.6(TUBB4B):c.278-4A>T	not provided [RCV003548286]	benign	9	137242492	137242492	Human		name
405090244	CV2912164	single nucleotide variant	NM_006087.4(TUBB4A):c.166+9A>G	Hypomyelinating leukodystrophy 6 [RCV003582790]	likely benign	19	6501506	6501506	Human	1	name , alternate_id
402465146	CV2916575	single nucleotide variant	NM_006088.6(TUBB4B):c.278-3C>T	not provided [RCV003569170]	uncertain significance	9	137242493	137242493	Human		name
405216375	CV3055520	single nucleotide variant	NM_006088.6(TUBB4B):c.277+6C>T	not provided [RCV003732617]	benign	9	137242027	137242027	Human		name
405055684	CV3076647	single nucleotide variant	NM_006087.4(TUBB4A):c.57+11A>G	Hypomyelinating leukodystrophy 6 [RCV003741029]	likely benign	19	6502145	6502145	Human	1	name , alternate_id
405065959	CV3144774	single nucleotide variant	NM_006088.6(TUBB4B):c.277+7C>G	not provided [RCV003850551]	likely benign	9	137242028	137242028	Human		name
405258681	CV3194107	single nucleotide variant	NM_006087.4(TUBB4A):c.166+7C>A	TUBB4A-related disorder [RCV003893689]	likely benign	19	6501508	6501508	Human		name , trait , alternate_id
597968390	CV3761067	single nucleotide variant	NM_006088.6(TUBB4B):c.166+6G>A	not provided [RCV005083454]	uncertain significance	9	137241835	137241835	Human		name
597924557	CV3863117	single nucleotide variant	NM_006087.4(TUBB4A):c.166+7C>T	Hypomyelinating leukodystrophy 6 [RCV005205605]	likely benign	19	6501508	6501508	Human	1	name , alternate_id
616933633	CV4011590	single nucleotide variant	NM_006087.4(TUBB4A):c.57+16G>C	not specified [RCV005408138]	likely benign	19	6502140	6502140	Human		name
14715484	CV670163	single nucleotide variant	NM_006087.4(TUBB4A):c.57+30G>T	not provided [RCV000829405]	benign	19	6502126	6502126	Human		name
28897859	CV860622	single nucleotide variant	NM_006087.4(TUBB4A):c.278-6C>T	not provided [RCV001092936]	uncertain significance	19	6496227	6496227	Human		name
150422843	CV1181819	single nucleotide variant	NM_006087.4(TUBB4A):c.58-174C>T	not provided [RCV001553195]	likely benign	19	6501797	6501797	Human		name
150426419	CV1188824	single nucleotide variant	NM_006087.4(TUBB4A):c.277+28C>T	not provided [RCV001559558]	likely benign	19	6501259	6501259	Human		name
150448477	CV1202039	single nucleotide variant	NM_006087.4(TUBB4A):c.166+52A>C	not provided [RCV001584909]	likely benign	19	6501463	6501463	Human		name
150499384	CV1209073	single nucleotide variant	NM_006087.4(TUBB4A):c.167-21C>T	not provided [RCV001594291]	likely benign	19	6501418	6501418	Human		name
150453190	CV1219802	single nucleotide variant	NM_006088.6(TUBB4B):c.166+13C>T	not provided [RCV001612183]	benign	9	137241842	137241842	Human		name
152118344	CV1534980	single nucleotide variant	NM_006088.6(TUBB4B):c.166+10C>T	not provided [RCV002153935]	likely benign	9	137241839	137241839	Human		name
152145698	CV1564205	single nucleotide variant	NM_006088.6(TUBB4B):c.167-12C>T	not provided [RCV002138772]	likely benign	9	137241899	137241899	Human		name
156323354	CV2163022	single nucleotide variant	NM_006088.6(TUBB4B):c.278-16C>G	not provided [RCV003029323]	likely benign	9	137242480	137242480	Human		name
329350696	CV2476726	single nucleotide variant	NM_001289129.2(TUBB4A):c.-75G>C	not provided [RCV003222958]	uncertain significance	19	6502703	6502703	Human		name
405092784	CV2918301	single nucleotide variant	NM_006087.4(TUBB4A):c.278-14C>T	Hypomyelinating leukodystrophy 6 [RCV003583022]	likely benign	19	6496235	6496235	Human	1	name , alternate_id
405152838	CV3123409	single nucleotide variant	NM_006088.6(TUBB4B):c.277+15G>C	not provided [RCV003817642]	likely benign	9	137242036	137242036	Human		name
405259078	CV3194446	microsatellite	NM_006088.6(TUBB4B):c.-18GCC[2]	TUBB4B-related disorder [RCV003893843]	likely benign	9	137241341	137241349	Human		name , trait , alternate_id
405270567	CV3211467	microsatellite	NM_006088.6(TUBB4B):c.-18GCC[7]	TUBB4B-related disorder [RCV003949351]	likely benign	9	137241340	137241341	Human		name , trait , alternate_id
405277090	CV3214354	microsatellite	NM_006088.6(TUBB4B):c.-18GCC[4]	TUBB4B-related disorder [RCV003917339]\|not provided [RCV004810609]	benign	9	137241341	137241343	Human		name , trait , alternate_id
596938869	CV3548677	single nucleotide variant	NM_001289129.2(TUBB4A):c.-53G>T	not provided [RCV004810505]	uncertain significance	19	6502681	6502681	Human		name
597874818	CV3747480	single nucleotide variant	NM_006088.6(TUBB4B):c.277+19C>T	not provided [RCV005069164]	likely benign	9	137242040	137242040	Human		name
597856092	CV3758748	single nucleotide variant	NM_006088.6(TUBB4B):c.167-16C>T	not provided [RCV005088708]	likely benign	9	137241895	137241895	Human		name
597918015	CV3842186	single nucleotide variant	NM_006087.4(TUBB4A):c.277+18G>A	Hypomyelinating leukodystrophy 6 [RCV005183861]	likely benign	19	6501269	6501269	Human	1	name , alternate_id
14715487	CV670087	single nucleotide variant	NM_006087.4(TUBB4A):c.57+169G>A	not provided [RCV000829406]	benign	19	6501987	6501987	Human	1	name
14715487	CV670087	single nucleotide variant	NM_006087.4(TUBB4A):c.57+169G>A	not provided [RCV000829406]	benign	19	6501987	6501988	Human	1	name
28880117	CV882941	single nucleotide variant	NM_006087.4(TUBB4A):c.167-12G>C	Hypomyelinating leukodystrophy 6 [RCV001135792]\|Torsion dystonia 4 [RCV001135791]	uncertain significance	19	6501409	6501409	Human	2	name , alternate_id
150420034	CV1181818	single nucleotide variant	NM_006087.4(TUBB4A):c.278-119A>G	not provided [RCV001551348]	likely benign	19	6496340	6496340	Human		name
150465797	CV1201137	single nucleotide variant	NM_006087.4(TUBB4A):c.277+114C>G	not provided [RCV001587617]	likely benign	19	6501173	6501173	Human		name
150475973	CV1239814	single nucleotide variant	NM_006087.4(TUBB4A):c.278-204G>A	not provided [RCV001651991]	benign	19	6496425	6496425	Human		name
150455588	CV1259889	single nucleotide variant	NM_006088.6(TUBB4B):c.278-119C>G	not provided [RCV001681368]	benign	9	137242377	137242377	Human		name
156026679	CV1883352	microsatellite	NM_006087.4(TUBB4A):c.58-12CT[4]	Hypomyelinating leukodystrophy 6 [RCV003077906]	likely benign	19	6501626	6501627	Human		name , alternate_id
150460540	CV1253122	single nucleotide variant	NM_001289123.2(TUBB4A):c.33+88C>T	not provided [RCV001669451]	benign	19	6502591	6502591	Human		name
126736570	CV1034512	deletion	NM_006087.4(TUBB4A):c.278-15_278-6del	Hypomyelinating leukodystrophy 6 [RCV001350241]\|Inborn genetic diseases [RCV002545626]\|TUBB4A-related disorder [RCV003953679]	likely benign\|uncertain significance	19	6496227	6496236	Human	3	name , trait , alternate_id
407475787	CV3494777	deletion	NM_006087.4(TUBB4A):c.-649_-317del333	not specified [RCV004690678]	uncertain significance	19	6502529	6502861	Human		name
152037571	CV1576339	deletion	NM_006087.4(TUBB4A):c.167-16_167-13del	Hypomyelinating leukodystrophy 6 [RCV002107247]	likely benign	19	6501410	6501413	Human	1	name , alternate_id
401906882	CV2815307	duplication	NM_006087.4(TUBB4A):c.277+538_277+541dup	not provided [RCV003421772]	benign	19	6500745	6500746	Human		name
150410023	CV1192211	single nucleotide variant	NM_006087.4(TUBB4A):c.1092C>T (p.Ala364=)	Hypomyelinating leukodystrophy 6 [RCV002072168]\|TUBB4A-related disorder [RCV003948602]\|not provided [RCV001565859]	likely benign	19	6495407	6495407	Human	2	name , trait , alternate_id
8689453	CV139377	single nucleotide variant	NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)	Hypomyelinating leukodystrophy 6 [RCV000122737]\|Inborn genetic diseases [RCV000623232]\|TUBB4A-related disorder [RCV003982897]	pathogenic\|likely pathogenic	19	6496032	6496032	Human	3	name , trait , alternate_id
152045574	CV1539501	single nucleotide variant	NM_006088.6(TUBB4B):c.243C>T (p.Phe81=)	TUBB4B-related disorder [RCV003903437]\|not provided [RCV002145051]	benign\|likely benign	9	137241987	137241987	Human	1	name , trait , alternate_id
152046128	CV1539563	single nucleotide variant	NM_006088.6(TUBB4B):c.12C>T (p.Ile4=)	TUBB4B-related disorder [RCV003958797]\|not provided [RCV002145100]	benign	9	137241372	137241372	Human	1	name , trait , alternate_id
152076391	CV1604522	single nucleotide variant	NM_006087.4(TUBB4A):c.1200C>G (p.Gly400=)	Hypomyelinating leukodystrophy 6 [RCV002092278]\|TUBB4A-related disorder [RCV003958484]\|not provided [RCV003222383]	likely benign	19	6495299	6495299	Human	2	name , trait , alternate_id
152034469	CV1639476	single nucleotide variant	NM_006088.6(TUBB4B):c.474G>A (p.Glu158=)	TUBB4B-related disorder [RCV003968758]\|not provided [RCV002187264]	likely benign	9	137242692	137242692	Human	1	name , trait , alternate_id
152107648	CV1661926	single nucleotide variant	NM_006088.6(TUBB4B):c.1044T>C (p.Asn348=)	TUBB4B-related disorder [RCV004757514]\|not provided [RCV002116130]	benign\|likely benign	9	137243262	137243262	Human	1	name , trait , alternate_id
156021698	CV2105757	single nucleotide variant	NM_006088.6(TUBB4B):c.561C>T (p.Leu187=)	TUBB4B-related disorder [RCV003936412]\|not provided [RCV002923095]	benign\|likely benign	9	137242779	137242779	Human	1	name , trait , alternate_id
11347286	CV243558	single nucleotide variant	NM_006087.4(TUBB4A):c.921C>T (p.His307=)	Hypomyelinating leukodystrophy 6 [RCV000231688]\|TUBB4A-related disorder [RCV003919966]\|Torsion dystonia 4 [RCV000328435]\|not provided [RCV004717089]\|not specified [RCV000437149]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	6495578	6495578	Human	2	name , trait , alternate_id
401904426	CV2804870	single nucleotide variant	NM_001289123.2(TUBB4A):c.56C>A (p.Pro19Gln)	TUBB4A-related disorder [RCV003422485]	uncertain significance	19	6502310	6502310	Human		name , trait , alternate_id
401908408	CV2815305	single nucleotide variant	NM_006087.4(TUBB4A):c.504C>T (p.Ser168=)	Hypomyelinating leukodystrophy 6 [RCV005100044]\|TUBB4A-related disorder [RCV003901054]\|not provided [RCV003423265]	likely benign	19	6495995	6495995	Human	2	name , trait , alternate_id
405170387	CV2854128	single nucleotide variant	NM_006088.6(TUBB4B):c.1092C>T (p.Ser364=)	TUBB4B-related disorder [RCV003919251]\|not provided [RCV003542022]	likely benign	9	137243310	137243310	Human	1	name , trait , alternate_id
405058297	CV2931992	single nucleotide variant	NM_006088.6(TUBB4B):c.120C>T (p.Ser40=)	TUBB4B-related disorder [RCV003954301]\|not provided [RCV003580119]	likely benign	9	137241783	137241783	Human	1	name , trait , alternate_id
405244805	CV3050663	single nucleotide variant	NM_006088.6(TUBB4B):c.966C>T (p.Ser322=)	TUBB4B-related disorder [RCV003966598]\|not provided [RCV003720018]	likely benign	9	137243184	137243184	Human	1	name , trait , alternate_id
405259305	CV3194667	single nucleotide variant	NM_006088.6(TUBB4B):c.1227C>T (p.Thr409=)	TUBB4B-related disorder [RCV003894059]	likely benign	9	137243445	137243445	Human		name , trait , alternate_id
405277879	CV3196137	single nucleotide variant	NM_006088.6(TUBB4B):c.1059C>T (p.Val353=)	TUBB4B-related disorder [RCV003904654]	likely benign	9	137243277	137243277	Human		name , trait , alternate_id
405283831	CV3199710	single nucleotide variant	NM_006087.4(TUBB4A):c.681C>T (p.His227=)	TUBB4A-related disorder [RCV003979372]	likely benign	19	6495818	6495818	Human		name , trait , alternate_id
405271750	CV3206193	single nucleotide variant	NM_006088.6(TUBB4B):c.252C>A (p.Ile84=)	TUBB4B-related disorder [RCV003971849]	likely benign	9	137241996	137241996	Human		name , trait , alternate_id
405265869	CV3215713	single nucleotide variant	NM_006088.6(TUBB4B):c.817C>T (p.Leu273=)	TUBB4B-related disorder [RCV003946883]	likely benign	9	137243035	137243035	Human		name , trait , alternate_id
405278786	CV3216798	single nucleotide variant	NM_006088.6(TUBB4B):c.852G>T (p.Leu284=)	TUBB4B-related disorder [RCV003954662]	likely benign	9	137243070	137243070	Human		name , trait , alternate_id
405279071	CV3217347	single nucleotide variant	NM_006088.6(TUBB4B):c.732C>T (p.Gly244=)	TUBB4B-related disorder [RCV003976782]\|not provided [RCV005064909]	likely benign	9	137242950	137242950	Human	1	name , trait , alternate_id
11620035	CV334448	single nucleotide variant	NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=)	Hypomyelinating leukodystrophy 6 [RCV000332362]\|TUBB4A-related disorder [RCV003922407]\|Torsion dystonia 4 [RCV000386937]\|not provided [RCV000864997]	benign\|likely benign	19	6495404	6495404	Human	2	name , trait , alternate_id
11614185	CV334451	single nucleotide variant	NM_006087.4(TUBB4A):c.189G>A (p.Ala63=)	Hypomyelinating leukodystrophy 6 [RCV000275181]\|TUBB4A-related disorder [RCV003912385]\|Torsion dystonia 4 [RCV000330295]\|not provided [RCV001712117]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	6501375	6501375	Human	2	name , trait , alternate_id
11629112	CV344325	single nucleotide variant	NM_006087.4(TUBB4A):c.210C>T (p.Pro70=)	Hypomyelinating leukodystrophy 6 [RCV000315058]\|TUBB4A-related disorder [RCV004755882]\|Torsion dystonia 4 [RCV000369687]	benign\|likely benign	19	6501354	6501354	Human	2	name , trait , alternate_id
11630220	CV349433	single nucleotide variant	NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)	Hypomyelinating leukodystrophy 6 [RCV000343742]\|TUBB4A-related disorder [RCV003972393]\|Torsion dystonia 4 [RCV000402401]\|Torsion dystonia 4 [RCV002504112]\|not provided [RCV001532369]\|not specified [RCV000429180]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	6495593	6495593	Human	2	name , trait , alternate_id
408385061	CV3506725	single nucleotide variant	NM_006088.6(TUBB4B):c.504T>C (p.Ser168=)	TUBB4B-related disorder [RCV004732301]	likely benign	9	137242722	137242722	Human		name , trait , alternate_id
408367091	CV3512336	single nucleotide variant	NM_006088.6(TUBB4B):c.1334C>T (p.Ala445Val)	TUBB4B-related disorder [RCV004757787]	uncertain significance	9	137243552	137243552	Human		name , trait , alternate_id
13531909	CV507188	single nucleotide variant	NM_006087.4(TUBB4A):c.585T>C (p.Asn195=)	Hypomyelinating leukodystrophy 6 [RCV000646036]\|TUBB4A-related disorder [RCV003962796]\|not provided [RCV001719010]	benign\|likely benign	19	6495914	6495914	Human	2	name , trait , alternate_id
15114621	CV694516	single nucleotide variant	NM_006087.4(TUBB4A):c.1044C>T (p.Asn348=)	Hypomyelinating leukodystrophy 6 [RCV000872991]\|TUBB4A-related disorder [RCV004756056]\|not provided [RCV001683680]	benign\|likely benign	19	6495455	6495455	Human	2	name , trait , alternate_id
15155628	CV723492	single nucleotide variant	NM_006088.6(TUBB4B):c.1035C>T (p.Ile345=)	TUBB4B-related disorder [RCV003940412]\|not provided [RCV000880456]	benign	9	137243253	137243253	Human	1	name , trait , alternate_id
15116315	CV751601	single nucleotide variant	NM_006088.6(TUBB4B):c.189C>G (p.Ala63=)	TUBB4B-related disorder [RCV003970453]\|not provided [RCV000917605]	likely benign	9	137241933	137241933	Human	1	name , trait , alternate_id
15121832	CV786298	single nucleotide variant	NM_006087.4(TUBB4A):c.450G>A (p.Leu150=)	Hypomyelinating leukodystrophy 6 [RCV000979538]\|TUBB4A-related disorder [RCV003897983]	likely benign	19	6496049	6496049	Human	2	name , trait , alternate_id
126738493	CV1001871	duplication	NC_000019.9:g.(?_6495175)_(6496252_?)dup	Hypomyelinating leukodystrophy 6 [RCV001324928]	uncertain significance				Human	1	alternate_id
126759116	CV1013951	single nucleotide variant	NM_006087.4(TUBB4A):c.1200C>T (p.Gly400=)	Hypomyelinating leukodystrophy 6 [RCV001317972]	likely benign\|uncertain significance	19	6495299	6495299	Human	1	name , alternate_id
126909241	CV1051522	single nucleotide variant	NM_006087.4(TUBB4A):c.769A>G (p.Met257Val)	Hypomyelinating leukodystrophy 6 [RCV001368320]	uncertain significance	19	6495730	6495730	Human	1	name , alternate_id
126918846	CV1051523	single nucleotide variant	NM_006087.4(TUBB4A):c.230G>A (p.Arg77His)	Hypomyelinating leukodystrophy 6 [RCV001372896]\|not provided [RCV001797177]	uncertain significance	19	6501334	6501334	Human	1	name , alternate_id
127309588	CV1128168	single nucleotide variant	NM_006087.4(TUBB4A):c.942C>T (p.Ala314=)	Hypomyelinating leukodystrophy 6 [RCV001456351]\|not provided [RCV001581141]	likely benign	19	6495557	6495557	Human	1	name , alternate_id
127313354	CV1128169	single nucleotide variant	NM_006087.4(TUBB4A):c.861C>T (p.Pro287=)	Hypomyelinating leukodystrophy 6 [RCV001464663]	likely benign	19	6495638	6495638	Human	1	name , alternate_id
127332567	CV1149097	single nucleotide variant	NM_006087.4(TUBB4A):c.1053G>A (p.Thr351=)	Hypomyelinating leukodystrophy 6 [RCV001489559]\|not provided [RCV005243570]	likely benign	19	6495446	6495446	Human	1	name , alternate_id
150436752	CV1245990	single nucleotide variant	NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile)	Hypomyelinating leukodystrophy 6 [RCV001663402]	likely pathogenic	19	6495703	6495703	Human	1	name , alternate_id
150495943	CV1272758	single nucleotide variant	NM_006087.4(TUBB4A):c.762C>T (p.Ala254=)	Hypomyelinating leukodystrophy 6 [RCV002073244]\|not provided [RCV001688681]	benign\|likely benign	19	6495737	6495737	Human	1	name , alternate_id
150453392	CV1275434	single nucleotide variant	NM_006087.4(TUBB4A):c.464T>C (p.Ile155Thr)	Hypomyelinating leukodystrophy 6 [RCV001706949]	uncertain significance	19	6496035	6496035	Human	1	name , alternate_id
151350641	CV1324617	deletion	NM_001289123.2(TUBB4A):c.13del (p.Ala5fs)	Hypomyelinating leukodystrophy 6 [RCV001809062]	uncertain significance	19	6502699	6502699	Human	1	name , alternate_id
151778447	CV1337892	single nucleotide variant	NM_006087.4(TUBB4A):c.1213G>A (p.Glu405Lys)	Hypomyelinating leukodystrophy 6 [RCV001930200]	uncertain significance	19	6495286	6495286	Human	1	name , alternate_id
151783244	CV1350156	single nucleotide variant	NM_006087.4(TUBB4A):c.204G>A (p.Leu68=)	Hypomyelinating leukodystrophy 6 [RCV001989326]	likely benign\|uncertain significance	19	6501360	6501360	Human	1	name , alternate_id
151849736	CV1368544	single nucleotide variant	NM_006087.4(TUBB4A):c.1197G>A (p.Thr399=)	Hypomyelinating leukodystrophy 6 [RCV001978765]	likely benign\|uncertain significance	19	6495302	6495302	Human	1	name , alternate_id
8689452	CV139376	single nucleotide variant	NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	Cerebral palsy [RCV001795219]\|Global developmental delay [RCV002463648]\|Hypomyelinating leukodystrophy 6 [RCV000122736]\|Torsion dystonia 4 [RCV000763442]\|Torsion dystonia 4 [RCV001542616]\|not provided [RCV001563545]	pathogenic\|likely pathogenic	19	6495271	6495271	Human	6	name , alternate_id
151852308	CV1409218	inversion	NM_006087.4(TUBB4A):c.475_476inv (p.Phe159Asn)	Hypomyelinating leukodystrophy 6 [RCV001937524]	uncertain significance	19	6496023	6496024	Human		name , alternate_id
151834657	CV1413191	single nucleotide variant	NM_006087.4(TUBB4A):c.736C>A (p.Leu246Met)	Hypomyelinating leukodystrophy 6 [RCV002014654]	likely pathogenic\|uncertain significance	19	6495763	6495763	Human	1	name , alternate_id
151773666	CV1424050	single nucleotide variant	NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val)	Hypomyelinating leukodystrophy 6 [RCV002025603]\|Inborn genetic diseases [RCV002642181]	conflicting interpretations of pathogenicity\|uncertain significance	19	6495763	6495763	Human	2	name , alternate_id
8693169	CV143144	single nucleotide variant	NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)	Hypomyelinating leukodystrophy 6 [RCV000128409]\|not provided [RCV000350313]	pathogenic	19	6502208	6502208	Human	1	name , alternate_id
8693170	CV143145	single nucleotide variant	NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg)	Hypomyelinating leukodystrophy 6 [RCV000128410]	pathogenic\|likely pathogenic	19	6495966	6495966	Human	1	name , alternate_id
151752842	CV1457590	single nucleotide variant	NM_006087.4(TUBB4A):c.270C>A (p.Phe90Leu)	Hypomyelinating leukodystrophy 6 [RCV001948322]\|not provided [RCV004697166]	uncertain significance	19	6501294	6501294	Human	1	name , alternate_id
151769709	CV1460279	single nucleotide variant	NM_006087.4(TUBB4A):c.451C>T (p.Leu151Phe)	Hypomyelinating leukodystrophy 6 [RCV001863957]	uncertain significance	19	6496048	6496048	Human	1	name , alternate_id
151744872	CV1460727	single nucleotide variant	NM_006087.4(TUBB4A):c.958C>T (p.Arg320Cys)	Hypomyelinating leukodystrophy 6 [RCV001871399]	uncertain significance	19	6495541	6495541	Human	1	name , alternate_id
151850559	CV1464948	insertion	NM_006087.4(TUBB4A):c.464_465insGAGT (p.Ile155fs)	Hypomyelinating leukodystrophy 6 [RCV001995904]\|not provided [RCV003136408]	uncertain significance	19	6496034	6496035	Human	1	name , alternate_id
151824389	CV1506939	single nucleotide variant	NM_006087.4(TUBB4A):c.848C>T (p.Ala283Val)	Hypomyelinating leukodystrophy 6 [RCV001955078]	likely benign\|uncertain significance	19	6495651	6495651	Human	1	name , alternate_id
152143334	CV1526824	single nucleotide variant	NM_006087.4(TUBB4A):c.381C>T (p.Cys127=)	Hypomyelinating leukodystrophy 6 [RCV002084456]	likely benign	19	6496118	6496118	Human	1	name , alternate_id
152126541	CV1528030	single nucleotide variant	NM_006087.4(TUBB4A):c.1077C>T (p.Arg359=)	Hypomyelinating leukodystrophy 6 [RCV002098897]	likely benign	19	6495422	6495422	Human	1	name , alternate_id
152092064	CV1528937	single nucleotide variant	NM_006087.4(TUBB4A):c.816C>A (p.Pro272=)	Hypomyelinating leukodystrophy 6 [RCV002101888]\|not provided [RCV002094322]	likely benign	19	6495683	6495683	Human	1	name , alternate_id
152060104	CV1536226	single nucleotide variant	NM_006087.4(TUBB4A):c.156C>T (p.Asn52=)	Hypomyelinating leukodystrophy 6 [RCV002146671]\|not provided [RCV002264475]	likely benign	19	6501525	6501525	Human	1	name , alternate_id
152168620	CV1548091	single nucleotide variant	NM_006087.4(TUBB4A):c.336G>T (p.Leu112=)	Hypomyelinating leukodystrophy 6 [RCV002161180]	likely benign	19	6496163	6496163	Human	1	name , alternate_id
152039606	CV1555446	single nucleotide variant	NM_006087.4(TUBB4A):c.1146C>T (p.Ser382=)	Hypomyelinating leukodystrophy 6 [RCV002107541]	likely benign	19	6495353	6495353	Human	1	name , alternate_id
152084779	CV1577105	single nucleotide variant	NM_006087.4(TUBB4A):c.144C>T (p.Asn48=)	Hypomyelinating leukodystrophy 6 [RCV002193488]\|not provided [RCV004703248]	likely benign	19	6501537	6501537	Human	1	name , alternate_id
152130585	CV1582350	single nucleotide variant	NM_006087.4(TUBB4A):c.690G>A (p.Ser230=)	Hypomyelinating leukodystrophy 6 [RCV002099431]\|not provided [RCV004809739]	likely benign	19	6495809	6495809	Human	1	name , alternate_id
152137927	CV1603825	single nucleotide variant	NM_006087.4(TUBB4A):c.1317G>A (p.Ala439=)	Hypomyelinating leukodystrophy 6 [RCV002218975]	likely benign	19	6495182	6495182	Human	1	name , alternate_id
152082539	CV1608067	single nucleotide variant	NM_006087.4(TUBB4A):c.774T>A (p.Val258=)	Hypomyelinating leukodystrophy 6 [RCV002193211]	likely benign	19	6495725	6495725	Human	1	name , alternate_id
152121438	CV1613198	single nucleotide variant	NM_006087.4(TUBB4A):c.930C>T (p.Tyr310=)	Hypomyelinating leukodystrophy 6 [RCV002154313]	likely benign	19	6495569	6495569	Human	1	name , alternate_id
152121531	CV1613209	single nucleotide variant	NM_006087.4(TUBB4A):c.804C>T (p.Pro268=)	Hypomyelinating leukodystrophy 6 [RCV002154324]	likely benign	19	6495695	6495695	Human	1	name , alternate_id
152127127	CV1615108	single nucleotide variant	NM_006087.4(TUBB4A):c.349C>T (p.Leu117=)	Hypomyelinating leukodystrophy 6 [RCV002082366]	likely benign	19	6496150	6496150	Human	1	name , alternate_id
152091993	CV1616511	single nucleotide variant	NM_006087.4(TUBB4A):c.1029G>A (p.Glu343=)	Hypomyelinating leukodystrophy 6 [RCV002114199]	likely benign	19	6495470	6495470	Human	1	name , alternate_id
152149170	CV1642802	single nucleotide variant	NM_006087.4(TUBB4A):c.1281C>T (p.Asp427=)	Hypomyelinating leukodystrophy 6 [RCV002179185]	likely benign	19	6495218	6495218	Human	1	name , alternate_id
152037210	CV1646350	single nucleotide variant	NM_006087.4(TUBB4A):c.1071G>A (p.Pro357=)	Hypomyelinating leukodystrophy 6 [RCV002205793]	likely benign	19	6495428	6495428	Human	1	name , alternate_id
152096154	CV1653428	single nucleotide variant	NM_006087.4(TUBB4A):c.243C>T (p.Phe81=)	Hypomyelinating leukodystrophy 6 [RCV002094866]\|not specified [RCV005238239]	likely benign	19	6501321	6501321	Human	1	name , alternate_id
152087991	CV1655524	single nucleotide variant	NM_006087.4(TUBB4A):c.639C>T (p.Arg213=)	Hypomyelinating leukodystrophy 6 [RCV002193899]	likely benign	19	6495860	6495860	Human	1	name , alternate_id
152088304	CV1655620	single nucleotide variant	NM_006087.4(TUBB4A):c.354C>T (p.Asp118=)	Hypomyelinating leukodystrophy 6 [RCV002193948]	likely benign	19	6496145	6496145	Human	1	name , alternate_id
152135733	CV1664265	single nucleotide variant	NM_006087.4(TUBB4A):c.714C>T (p.Thr238=)	Hypomyelinating leukodystrophy 6 [RCV002156113]	likely benign	19	6495785	6495785	Human	1	name , alternate_id
152050029	CV1664667	single nucleotide variant	NM_006087.4(TUBB4A):c.321G>A (p.Thr107=)	Hypomyelinating leukodystrophy 6 [RCV002127130]	likely benign	19	6496178	6496178	Human	1	name , alternate_id
152101576	CV1667100	single nucleotide variant	NM_006087.4(TUBB4A):c.539T>C (p.Val180Ala)	Hypomyelinating leukodystrophy 6 [RCV005095740]\|not provided [RCV002214086]	likely pathogenic\|uncertain significance	19	6495960	6495960	Human	1	name , alternate_id
153000619	CV1683757	single nucleotide variant	NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln)	Hypomyelinating leukodystrophy 6 [RCV002254376]	uncertain significance	19	6496137	6496137	Human	1	name , alternate_id
153301351	CV1686887	single nucleotide variant	NM_006087.4(TUBB4A):c.544C>T (p.Pro182Ser)	Torsion dystonia 4 [RCV002262174]	likely pathogenic	19	6495955	6495955	Human	1	name , alternate_id
155677934	CV1779141	single nucleotide variant	NM_006087.4(TUBB4A):c.664T>G (p.Tyr222Asp)	Hypomyelinating leukodystrophy 6 [RCV002297923]	uncertain significance	19	6495835	6495835	Human	1	name , alternate_id
155798729	CV1862130	single nucleotide variant	NM_006087.4(TUBB4A):c.493A>G (p.Asn165Asp)	Hypomyelinating leukodystrophy 6 [RCV002471533]	likely pathogenic	19	6496006	6496006	Human	1	name , alternate_id
156408451	CV1870054	single nucleotide variant	NM_006087.4(TUBB4A):c.852G>A (p.Leu284=)	Hypomyelinating leukodystrophy 6 [RCV003071272]	likely benign	19	6495647	6495647	Human	1	name , alternate_id
156379711	CV1873417	single nucleotide variant	NM_006087.4(TUBB4A):c.606C>T (p.Ile202=)	Hypomyelinating leukodystrophy 6 [RCV003067065]	likely benign	19	6495893	6495893	Human	1	name , alternate_id
156383654	CV1878477	single nucleotide variant	NM_006087.4(TUBB4A):c.162C>T (p.Ala54=)	Hypomyelinating leukodystrophy 6 [RCV003050687]	likely benign	19	6501519	6501519	Human	1	name , alternate_id
156410187	CV1888293	single nucleotide variant	NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val)	Hypomyelinating leukodystrophy 6 [RCV003071968]	uncertain significance	19	6495168	6495168	Human	1	name , alternate_id
10047440	CV190170	single nucleotide variant	NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)	Hypomyelinating leukodystrophy 6 [RCV000173012]	pathogenic\|likely pathogenic	19	6495931	6495931	Human	1	name , alternate_id
156207182	CV1906010	single nucleotide variant	NM_006087.4(TUBB4A):c.954G>C (p.Arg318=)	Hypomyelinating leukodystrophy 6 [RCV003084448]	likely benign	19	6495545	6495545	Human	1	name , alternate_id
156314660	CV1910164	single nucleotide variant	NM_006087.4(TUBB4A):c.1104C>T (p.Ile368=)	Hypomyelinating leukodystrophy 6 [RCV002599865]	likely benign	19	6495395	6495395	Human	1	name , alternate_id
156104002	CV1917089	single nucleotide variant	NM_006087.4(TUBB4A):c.906G>C (p.Ala302=)	Hypomyelinating leukodystrophy 6 [RCV002592380]	likely benign	19	6495593	6495593	Human	1	name , alternate_id
156028689	CV1923054	single nucleotide variant	NM_006087.4(TUBB4A):c.157G>A (p.Glu53Lys)	Hypomyelinating leukodystrophy 6 [RCV002637061]	uncertain significance	19	6501524	6501524	Human	1	name , alternate_id
156052891	CV1923994	single nucleotide variant	NM_006087.4(TUBB4A):c.882C>T (p.Phe294=)	Hypomyelinating leukodystrophy 6 [RCV002638002]	likely benign	19	6495617	6495617	Human	1	name , alternate_id
156296427	CV1924140	single nucleotide variant	NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr)	Hypomyelinating leukodystrophy 6 [RCV002629035]	uncertain significance	19	6495406	6495406	Human	1	name , alternate_id
156299754	CV1932902	single nucleotide variant	NM_006087.4(TUBB4A):c.466C>T (p.Arg156Cys)	Hypomyelinating leukodystrophy 6 [RCV002647578]\|not provided [RCV005363053]	pathogenic\|uncertain significance	19	6496033	6496033	Human	1	name , alternate_id
156364465	CV1934878	deletion	NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del)	Hypomyelinating leukodystrophy 6 [RCV002651863]	uncertain significance	19	6495172	6495183	Human	1	name , alternate_id
156445580	CV1943232	deletion	NC_000019.9:g.(?_6495175)_(6496252_?)del	Hypomyelinating leukodystrophy 6 [RCV003116526]	uncertain significance				Human	1	alternate_id
156445581	CV1943233	deletion	NC_000019.9:g.(?_6495175)_(6502223_?)del	Hypomyelinating leukodystrophy 6 [RCV003116527]	uncertain significance				Human	1	alternate_id
156434088	CV1946806	single nucleotide variant	NM_006087.4(TUBB4A):c.1206C>T (p.Gly402=)	Hypomyelinating leukodystrophy 6 [RCV003104270]	likely benign	19	6495293	6495293	Human	1	name , alternate_id
156186827	CV1964747	single nucleotide variant	NM_006087.4(TUBB4A):c.1125G>A (p.Gln375=)	Hypomyelinating leukodystrophy 6 [RCV002574286]	likely benign	19	6495374	6495374	Human	1	name , alternate_id
156413196	CV1968982	single nucleotide variant	NM_006087.4(TUBB4A):c.597C>T (p.Thr199=)	Hypomyelinating leukodystrophy 6 [RCV002608769]	likely benign	19	6495902	6495902	Human	1	name , alternate_id
156066588	CV1975452	single nucleotide variant	NM_006087.4(TUBB4A):c.1074C>T (p.Pro358=)	Hypomyelinating leukodystrophy 6 [RCV002591147]	likely benign	19	6495425	6495425	Human	1	name , alternate_id
156162682	CV2019517	single nucleotide variant	NM_006087.4(TUBB4A):c.373G>C (p.Glu125Gln)	Hypomyelinating leukodystrophy 6 [RCV002710232]	uncertain significance	19	6496126	6496126	Human	1	name , alternate_id
156202310	CV2034789	single nucleotide variant	NM_006087.4(TUBB4A):c.998T>C (p.Val333Ala)	Hypomyelinating leukodystrophy 6 [RCV002766285]	uncertain significance	19	6495501	6495501	Human	1	name , alternate_id
156211316	CV2036908	single nucleotide variant	NM_006087.4(TUBB4A):c.805G>A (p.Gly269Ser)	Hypomyelinating leukodystrophy 6 [RCV002790252]	likely benign	19	6495694	6495694	Human	1	name , alternate_id
10408988	CV205792	single nucleotide variant	NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	Hypomyelinating leukodystrophy 6 [RCV000191139]	pathogenic\|likely pathogenic	19	6495335	6495335	Human	1	name , alternate_id
156379919	CV2060701	single nucleotide variant	NM_006087.4(TUBB4A):c.468C>G (p.Arg156=)	Hypomyelinating leukodystrophy 6 [RCV002815008]	likely benign	19	6496031	6496031	Human	1	name , alternate_id
156379930	CV2060702	single nucleotide variant	NM_006087.4(TUBB4A):c.375G>T (p.Glu125Asp)	Hypomyelinating leukodystrophy 6 [RCV002815009]	uncertain significance	19	6496124	6496124	Human	1	name , alternate_id
156113963	CV2065566	single nucleotide variant	NM_006087.4(TUBB4A):c.387C>T (p.Cys129=)	Hypomyelinating leukodystrophy 6 [RCV002871006]	likely benign	19	6496112	6496112	Human	1	name , alternate_id
10409036	CV208626	single nucleotide variant	NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)	Hypomyelinating leukodystrophy 6 [RCV000383118]\|Torsion dystonia 4 [RCV000288736]\|not provided [RCV001709516]\|not specified [RCV000193302]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	6495584	6495584	Human	2	name , alternate_id
156160225	CV2096839	single nucleotide variant	NM_006087.4(TUBB4A):c.535G>A (p.Val179Met)	Hypomyelinating leukodystrophy 6 [RCV002872631]	uncertain significance	19	6495964	6495964	Human	1	name , alternate_id
156328724	CV2116277	single nucleotide variant	NM_006087.4(TUBB4A):c.429G>A (p.Thr143=)	Hypomyelinating leukodystrophy 6 [RCV002938241]\|not provided [RCV003222450]	likely benign	19	6496070	6496070	Human	1	name , alternate_id
156115233	CV2117503	single nucleotide variant	NM_006087.4(TUBB4A):c.234T>C (p.Ser78=)	Hypomyelinating leukodystrophy 6 [RCV002953281]	likely benign	19	6501330	6501330	Human	1	name , alternate_id
156209879	CV2117678	single nucleotide variant	NM_006087.4(TUBB4A):c.36C>T (p.Cys12=)	Hypomyelinating leukodystrophy 6 [RCV002957698]	likely benign	19	6502177	6502177	Human	1	name , alternate_id
156001235	CV2122878	single nucleotide variant	NM_006087.4(TUBB4A):c.414G>T (p.Ser138=)	Hypomyelinating leukodystrophy 6 [RCV002975189]	likely benign	19	6496085	6496085	Human	1	name , alternate_id
10411115	CV213656	single nucleotide variant	NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)	Cerebral palsy [RCV001004001]\|Hypomyelinating leukodystrophy 6 [RCV000199587]\|Inborn genetic diseases [RCV002515471]\|Microcephaly [RCV001527369]\|Torsion dystonia 4 [RCV004798804]\|not provided [RCV000290772]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	6495736	6495736	Human	7	name , alternate_id
156018682	CV2151594	single nucleotide variant	NM_006087.4(TUBB4A):c.577G>A (p.Val193Met)	Hypomyelinating leukodystrophy 6 [RCV003018121]\|not provided [RCV004798017]	uncertain significance	19	6495922	6495922	Human	1	name , alternate_id
156175049	CV2181400	single nucleotide variant	NM_006087.4(TUBB4A):c.737T>C (p.Leu246Pro)	Hypomyelinating leukodystrophy 6 [RCV003057342]\|not provided [RCV004779409]	pathogenic\|uncertain significance	19	6495762	6495762	Human	1	name , alternate_id
156165962	CV2184721	single nucleotide variant	NM_006087.4(TUBB4A):c.914C>T (p.Pro305Leu)	Hypomyelinating leukodystrophy 6 [RCV003057070]	uncertain significance	19	6495585	6495585	Human	1	name , alternate_id
156370967	CV2188666	single nucleotide variant	NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser)	Hypomyelinating leukodystrophy 6 [RCV003066282]	uncertain significance	19	6495439	6495439	Human	1	name , alternate_id
243063654	CV2405100	single nucleotide variant	NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)	Hypomyelinating leukodystrophy 6 [RCV003142232]	uncertain significance	19	6495759	6495759	Human	1	name , alternate_id
243051246	CV2415734	single nucleotide variant	NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser)	Hypomyelinating leukodystrophy 6 [RCV003148341]	likely pathogenic\|uncertain significance	19	6501353	6501353	Human	1	name , alternate_id
11559810	CV260216	single nucleotide variant	NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)	Auditory neuropathy spectrum disorder [RCV003984834]\|Hypomyelinating leukodystrophy 6 [RCV000258674]\|Inborn genetic diseases [RCV000623201]\|not provided [RCV000255029]	pathogenic\|likely pathogenic	19	6495714	6495714	Human	3	name , alternate_id
11567984	CV263148	single nucleotide variant	NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys)	Hypomyelinating leukodystrophy 6 [RCV000258719]	pathogenic\|not provided	19	6495318	6495318	Human	1	name , alternate_id
11567975	CV263149	single nucleotide variant	NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)	Hypomyelinating leukodystrophy 6 [RCV000258636]\|Torsion dystonia 4 [RCV001249222]\|not provided [RCV001092106]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	19	6495327	6495327	Human	2	name , alternate_id
11567843	CV263150	single nucleotide variant	NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)	Global developmental delay [RCV001004000]\|Hypomyelinating leukodystrophy 6 [RCV000258534]\|not provided [RCV001092107]	pathogenic\|not provided	19	6495335	6495335	Human	8	name , alternate_id
11567983	CV263151	single nucleotide variant	NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)	Hypomyelinating leukodystrophy 6 [RCV000258709]\|not provided [RCV003237814]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	19	6495336	6495336	Human	1	name , alternate_id
11567973	CV263152	single nucleotide variant	NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val)	Hypomyelinating leukodystrophy 6 [RCV000258588]\|not provided [RCV000433083]	pathogenic\|likely pathogenic\|not provided	19	6495337	6495337	Human	1	name , alternate_id
11567969	CV263153	single nucleotide variant	NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu)	Hypomyelinating leukodystrophy 6 [RCV000258517]	pathogenic\|likely pathogenic\|not provided	19	6495400	6495400	Human	1	name , alternate_id
11567982	CV263154	single nucleotide variant	NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile)	Hypomyelinating leukodystrophy 6 [RCV000258702]	pathogenic\|not provided	19	6495400	6495400	Human	1	name , alternate_id
11567974	CV263155	single nucleotide variant	NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp)	Hypomyelinating leukodystrophy 6 [RCV000258591]	pathogenic\|not provided	19	6495408	6495408	Human	1	name , alternate_id
11567986	CV263156	single nucleotide variant	NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr)	Hypomyelinating leukodystrophy 6 [RCV000258758]	pathogenic\|not provided	19	6495438	6495438	Human	1	name , alternate_id
11567978	CV263157	single nucleotide variant	NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr)	Hypomyelinating leukodystrophy 6 [RCV000258649]	pathogenic\|uncertain significance	19	6495445	6495445	Human	1	name , alternate_id
11567972	CV263158	single nucleotide variant	NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg)	Hypomyelinating leukodystrophy 6 [RCV000258582]	pathogenic\|not provided	19	6495531	6495531	Human	1	name , alternate_id
11567987	CV263159	single nucleotide variant	NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val)	Hypomyelinating leukodystrophy 6 [RCV000258759]\|not provided [RCV000440199]	pathogenic\|likely pathogenic\|uncertain significance	19	6495558	6495558	Human	1	name , alternate_id
11567979	CV263160	single nucleotide variant	NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile)	Hypomyelinating leukodystrophy 6 [RCV000258675]	pathogenic\|not provided	19	6495599	6495599	Human	1	name , alternate_id
11567980	CV263161	single nucleotide variant	NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys)	Hypomyelinating leukodystrophy 6 [RCV000258678]	pathogenic\|likely pathogenic\|not provided	19	6495625	6495625	Human	1	name , alternate_id
11567844	CV263162	single nucleotide variant	NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro)	Hypomyelinating leukodystrophy 6 [RCV000258563]	pathogenic\|not provided	19	6495654	6495654	Human	1	name , alternate_id
11567971	CV263163	single nucleotide variant	NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)	Hypomyelinating leukodystrophy 6 [RCV000258532]\|not provided [RCV003325306]	pathogenic\|not provided	19	6495768	6495768	Human	1	name , alternate_id
11567976	CV263164	single nucleotide variant	NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp)	Hypomyelinating leukodystrophy 6 [RCV000258642]	pathogenic\|not provided	19	6495768	6495768	Human	1	name , alternate_id
11567989	CV263165	single nucleotide variant	NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)	Hypomyelinating leukodystrophy 6 [RCV000258787]\|not provided [RCV003322766]	pathogenic\|likely pathogenic\|not provided	19	6495769	6495769	Human	1	name , alternate_id
11567985	CV263166	single nucleotide variant	NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe)	Hypomyelinating leukodystrophy 6 [RCV000258739]	pathogenic\|not provided	19	6495783	6495783	Human	1	name , alternate_id
11567970	CV263167	single nucleotide variant	NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr)	Hypomyelinating leukodystrophy 6 [RCV000258525]	pathogenic\|not provided	19	6495955	6495955	Human	1	name , alternate_id
11567846	CV263168	single nucleotide variant	NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)	Hypomyelinating leukodystrophy 6 [RCV000258699]\|Torsion dystonia 4 [RCV001335376]\|not provided [RCV000782019]	pathogenic\|not provided	19	6495966	6495966	Human	2	name , alternate_id
11567845	CV263169	single nucleotide variant	NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)	Hypomyelinating leukodystrophy 6 [RCV000258578]\|not provided [RCV001782762]	pathogenic\|not provided	19	6502209	6502209	Human	1	name , alternate_id
11567847	CV263170	single nucleotide variant	NM_006087.3:c.900C>A	Hypomyelinating leukodystrophy 6 [RCV000258753]	pathogenic				Human	1	alternate_id
401828780	CV2743115	single nucleotide variant	NM_006087.4(TUBB4A):c.902C>T (p.Ala301Val)	Hypomyelinating leukodystrophy 6 [RCV003777365]\|not provided [RCV003325824]	uncertain significance	19	6495597	6495597	Human	1	name , alternate_id
401940223	CV2839194	single nucleotide variant	NM_001289123.2(TUBB4A):c.10G>A (p.Gly4Arg)	Hypomyelinating leukodystrophy 6 [RCV003448752]	uncertain significance	19	6502702	6502702	Human	1	name , alternate_id
405088797	CV2884491	single nucleotide variant	NM_006087.4(TUBB4A):c.996C>T (p.Ser332=)	Hypomyelinating leukodystrophy 6 [RCV003582660]	likely benign	19	6495503	6495503	Human	1	name , alternate_id
405071144	CV2885330	single nucleotide variant	NM_006087.4(TUBB4A):c.1216A>T (p.Met406Leu)	Hypomyelinating leukodystrophy 6 [RCV003581129]	uncertain significance	19	6495283	6495283	Human	1	name , alternate_id
405076310	CV2890544	single nucleotide variant	NM_006087.4(TUBB4A):c.936C>T (p.Thr312=)	Hypomyelinating leukodystrophy 6 [RCV003581392]	likely benign	19	6495563	6495563	Human	1	name , alternate_id
405088848	CV2903022	single nucleotide variant	NM_006087.4(TUBB4A):c.1198G>A (p.Gly400Ser)	Hypomyelinating leukodystrophy 6 [RCV003582712]	uncertain significance	19	6495301	6495301	Human	1	name , alternate_id
405076725	CV2905739	single nucleotide variant	NM_006087.4(TUBB4A):c.189G>T (p.Ala63=)	Hypomyelinating leukodystrophy 6 [RCV003581501]	likely benign	19	6501375	6501375	Human	1	name , alternate_id
405091138	CV2913552	single nucleotide variant	NM_006087.4(TUBB4A):c.24G>T (p.Gln8His)	Hypomyelinating leukodystrophy 6 [RCV003582889]	uncertain significance	19	6502189	6502189	Human	1	name , alternate_id
405060913	CV2952439	single nucleotide variant	NM_006087.4(TUBB4A):c.411C>T (p.His137=)	Hypomyelinating leukodystrophy 6 [RCV003741575]	likely benign	19	6496088	6496088	Human	1	name , alternate_id
405063519	CV2976998	single nucleotide variant	NM_006087.4(TUBB4A):c.414G>A (p.Ser138=)	Hypomyelinating leukodystrophy 6 [RCV003741784]	likely benign	19	6496085	6496085	Human	1	name , alternate_id
405063935	CV2987747	single nucleotide variant	NM_006087.4(TUBB4A):c.102C>T (p.Gly34=)	Hypomyelinating leukodystrophy 6 [RCV003741819]	uncertain significance	19	6501579	6501579	Human	1	name , alternate_id
405067231	CV2993914	single nucleotide variant	NM_006087.4(TUBB4A):c.755A>G (p.Lys252Arg)	Hypomyelinating leukodystrophy 6 [RCV003742076]	pathogenic	19	6495744	6495744	Human	1	name , alternate_id
405065996	CV3001932	single nucleotide variant	NM_006087.4(TUBB4A):c.1078G>C (p.Gly360Arg)	Hypomyelinating leukodystrophy 6 [RCV003741984]	uncertain significance	19	6495421	6495421	Human	1	name , alternate_id
405068697	CV3006617	single nucleotide variant	NM_006087.4(TUBB4A):c.903G>A (p.Ala301=)	Hypomyelinating leukodystrophy 6 [RCV003742208]	likely benign	19	6495596	6495596	Human	1	name , alternate_id
405070868	CV3026686	single nucleotide variant	NM_006087.4(TUBB4A):c.415C>T (p.Leu139=)	Hypomyelinating leukodystrophy 6 [RCV003742359]	likely benign	19	6496084	6496084	Human	1	name , alternate_id
405071990	CV3038076	single nucleotide variant	NM_006087.4(TUBB4A):c.1196C>T (p.Thr399Met)	Hypomyelinating leukodystrophy 6 [RCV003742437]	uncertain significance	19	6495303	6495303	Human	1	name , alternate_id
405073398	CV3046861	single nucleotide variant	NM_006087.4(TUBB4A):c.552C>T (p.Asn184=)	Hypomyelinating leukodystrophy 6 [RCV003742537]	likely benign	19	6495947	6495947	Human	1	name , alternate_id
405052584	CV3056533	single nucleotide variant	NM_006087.4(TUBB4A):c.1038C>A (p.Pro346=)	Hypomyelinating leukodystrophy 6 [RCV003740742]	likely benign	19	6495461	6495461	Human	1	name , alternate_id
405052992	CV3057725	single nucleotide variant	NM_006087.4(TUBB4A):c.1024G>A (p.Val342Met)	Hypomyelinating leukodystrophy 6 [RCV003740799]	uncertain significance	19	6495475	6495475	Human	1	name , alternate_id
405053564	CV3058670	single nucleotide variant	NM_006087.4(TUBB4A):c.343G>A (p.Ala115Thr)	Hypomyelinating leukodystrophy 6 [RCV003740847]	uncertain significance	19	6496156	6496156	Human	1	name , alternate_id
405054180	CV3062849	single nucleotide variant	NM_006087.4(TUBB4A):c.721C>T (p.Arg241Cys)	Hypomyelinating leukodystrophy 6 [RCV003740906]	uncertain significance	19	6495778	6495778	Human	1	name , alternate_id
405054314	CV3063659	single nucleotide variant	NM_006087.4(TUBB4A):c.618A>G (p.Ala206=)	Hypomyelinating leukodystrophy 6 [RCV003740767]	likely benign	19	6495881	6495881	Human	1	name , alternate_id
405055283	CV3073669	single nucleotide variant	NM_006087.4(TUBB4A):c.810C>T (p.Phe270=)	Hypomyelinating leukodystrophy 6 [RCV003740998]	likely benign	19	6495689	6495689	Human	1	name , alternate_id
405209036	CV3117257	single nucleotide variant	NM_006087.4(TUBB4A):c.1080C>A (p.Gly360=)	Hypomyelinating leukodystrophy 6 [RCV003823044]	likely benign	19	6495419	6495419	Human	1	name , alternate_id
405162138	CV3125165	single nucleotide variant	NM_006087.4(TUBB4A):c.369G>A (p.Glu123=)	Hypomyelinating leukodystrophy 6 [RCV003818437]	likely benign	19	6496130	6496130	Human	1	name , alternate_id
404977468	CV3127210	single nucleotide variant	NM_006087.4(TUBB4A):c.1045G>A (p.Val349Met)	Hypomyelinating leukodystrophy 6 [RCV003825433]	uncertain significance	19	6495454	6495454	Human	1	name , alternate_id
405196231	CV3146599	single nucleotide variant	NM_006087.4(TUBB4A):c.953G>A (p.Arg318Gln)	Hypomyelinating leukodystrophy 6 [RCV003843954]	uncertain significance	19	6495546	6495546	Human	1	name , alternate_id
405056644	CV3147732	single nucleotide variant	NM_006087.4(TUBB4A):c.909C>T (p.Cys303=)	Hypomyelinating leukodystrophy 6 [RCV003849962]	likely benign	19	6495590	6495590	Human	1	name , alternate_id
405214420	CV3164394	single nucleotide variant	NM_006087.4(TUBB4A):c.1131G>A (p.Leu377=)	Hypomyelinating leukodystrophy 6 [RCV003862629]	likely benign	19	6495368	6495368	Human	1	name , alternate_id
405235550	CV3166233	single nucleotide variant	NM_006087.4(TUBB4A):c.480A>G (p.Pro160=)	Hypomyelinating leukodystrophy 6 [RCV003853682]	likely benign	19	6496019	6496019	Human	1	name , alternate_id
402516040	CV3178850	single nucleotide variant	NM_006087.4(TUBB4A):c.436G>A (p.Gly146Arg)	Hypomyelinating leukodystrophy 6 [RCV003879283]	uncertain significance	19	6496063	6496063	Human	1	name , alternate_id
11614522	CV334445	single nucleotide variant	NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=)	Hypomyelinating leukodystrophy 6 [RCV000353442]\|Torsion dystonia 4 [RCV000277425]\|not provided [RCV004717329]\|not specified [RCV000436242]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	6495212	6495212	Human	2	name , alternate_id
407425782	CV3409637	single nucleotide variant	NM_006087.4(TUBB4A):c.1290C>T (p.Ala430=)	Hypomyelinating leukodystrophy 6 [RCV005101970]\|not provided [RCV004585569]	likely benign	19	6495209	6495209	Human	1	name , alternate_id
407427620	CV3410769	single nucleotide variant	NM_006087.4(TUBB4A):c.925C>T (p.Arg309Cys)	Hypomyelinating leukodystrophy 6 [RCV004586416]	uncertain significance	19	6495574	6495574	Human	1	name , alternate_id
11627625	CV349435	single nucleotide variant	NM_006087.4(TUBB4A):c.774T>C (p.Val258=)	Hypomyelinating leukodystrophy 6 [RCV000285444]\|Torsion dystonia 4 [RCV000340366]\|not provided [RCV001636927]\|not specified [RCV001723918]	benign	19	6495725	6495725	Human	2	name , alternate_id
11628336	CV349436	single nucleotide variant	NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=)	Hypomyelinating leukodystrophy 6 [RCV000401832]\|Torsion dystonia 4 [RCV000300026]\|not provided [RCV003418041]	benign\|likely benign	19	6495875	6495875	Human	2	name , alternate_id
11630617	CV349440	single nucleotide variant	NM_006087.4(TUBB4A):c.342C>T (p.Asp114=)	Hypomyelinating leukodystrophy 6 [RCV000354776]\|Torsion dystonia 4 [RCV000393466]\|not provided [RCV004717330]\|not specified [RCV000436450]	benign	19	6496157	6496157	Human	2	name , alternate_id
407454635	CV3495461	single nucleotide variant	NM_006087.4(TUBB4A):c.1052C>T (p.Thr351Met)	Hypomyelinating leukodystrophy 6 [RCV004691703]	likely pathogenic	19	6495447	6495447	Human	1	name , alternate_id
408377140	CV3501513	single nucleotide variant	NM_006087.4(TUBB4A):c.638G>A (p.Arg213His)	Hypomyelinating leukodystrophy 6 [RCV004727587]	uncertain significance	19	6495861	6495861	Human	1	name , alternate_id
11665631	CV353527	single nucleotide variant	NC_000019.10:g.6494308C>T	Dystonic disorder [RCV000341206]\|Hypomyelinating leukodystrophy 6 [RCV000283638]	likely benign	19	6494308	6494308	Human	3	alternate_id
596942182	CV3542534	single nucleotide variant	NM_006087.4(TUBB4A):c.883G>C (p.Asp295His)	Hypomyelinating leukodystrophy 6 [RCV004798118]	uncertain significance	19	6495616	6495616	Human	1	name , alternate_id
597712439	CV3732939	single nucleotide variant	NM_006087.4(TUBB4A):c.287G>T (p.Gly96Val)	Hypomyelinating leukodystrophy 6 [RCV005052134]	likely pathogenic	19	6496212	6496212	Human	1	name , alternate_id
597947134	CV3752259	single nucleotide variant	NM_006087.4(TUBB4A):c.1078G>A (p.Gly360Ser)	Hypomyelinating leukodystrophy 6 [RCV005078729]	uncertain significance	19	6495421	6495421	Human	1	name , alternate_id
597841519	CV3752847	single nucleotide variant	NM_006087.4(TUBB4A):c.1291G>A (p.Glu431Lys)	Hypomyelinating leukodystrophy 6 [RCV005086576]	uncertain significance	19	6495208	6495208	Human	1	name , alternate_id
597941655	CV3757438	single nucleotide variant	NM_006087.4(TUBB4A):c.912C>T (p.Asp304=)	Hypomyelinating leukodystrophy 6 [RCV005077624]	likely benign	19	6495587	6495587	Human	1	name , alternate_id
597969056	CV3791181	single nucleotide variant	NM_006087.4(TUBB4A):c.67G>A (p.Val23Ile)	Hypomyelinating leukodystrophy 6 [RCV005141213]	uncertain significance	19	6501614	6501614	Human	1	name , alternate_id
597963623	CV3792013	single nucleotide variant	NM_006087.4(TUBB4A):c.729G>C (p.Pro243=)	Hypomyelinating leukodystrophy 6 [RCV005139570]	likely benign	19	6495770	6495770	Human	1	name , alternate_id
597953662	CV3795590	single nucleotide variant	NM_006087.4(TUBB4A):c.925C>A (p.Arg309Ser)	Hypomyelinating leukodystrophy 6 [RCV005136600]	uncertain significance	19	6495574	6495574	Human	1	name , alternate_id
597899179	CV3796358	single nucleotide variant	NM_006087.4(TUBB4A):c.261G>C (p.Pro87=)	Hypomyelinating leukodystrophy 6 [RCV005152441]	likely benign	19	6501303	6501303	Human	1	name , alternate_id
597906642	CV3804082	single nucleotide variant	NM_006087.4(TUBB4A):c.1211A>T (p.Asp404Val)	Hypomyelinating leukodystrophy 6 [RCV005153628]	uncertain significance	19	6495288	6495288	Human	1	name , alternate_id
597865068	CV3823261	single nucleotide variant	NM_006087.4(TUBB4A):c.883G>A (p.Asp295Asn)	Hypomyelinating leukodystrophy 6 [RCV005175611]	uncertain significance	19	6495616	6495616	Human	1	name , alternate_id
597872094	CV3835825	single nucleotide variant	NM_006087.4(TUBB4A):c.1308G>A (p.Glu436=)	Hypomyelinating leukodystrophy 6 [RCV005176816]	likely benign	19	6495191	6495191	Human	1	name , alternate_id
597948343	CV3852477	single nucleotide variant	NM_006087.4(TUBB4A):c.1083G>C (p.Leu361=)	Hypomyelinating leukodystrophy 6 [RCV005189555]	likely benign	19	6495416	6495416	Human	1	name , alternate_id
597887896	CV3859403	single nucleotide variant	NM_006087.4(TUBB4A):c.729G>A (p.Pro243=)	Hypomyelinating leukodystrophy 6 [RCV005200059]	likely benign	19	6495770	6495770	Human	1	name , alternate_id
12894444	CV410718	single nucleotide variant	NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu)	Hypomyelinating leukodystrophy 6 [RCV000677404]\|not provided [RCV000482828]	pathogenic\|likely pathogenic\|uncertain significance	19	6495327	6495327	Human	1	name , alternate_id
12913559	CV422301	single nucleotide variant	NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg)	Hypomyelinating leukodystrophy 6 [RCV001851359]\|Torsion dystonia 4 [RCV003458202]\|not provided [RCV000493968]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	19	6496213	6496213	Human	2	name , alternate_id
13484801	CV446894	single nucleotide variant	NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)	Hypomyelinating leukodystrophy 6 [RCV000552933]\|not provided [RCV001837950]	likely pathogenic\|uncertain significance	19	6495437	6495437	Human	1	name , alternate_id
13537112	CV507190	single nucleotide variant	NM_006087.4(TUBB4A):c.558G>A (p.Thr186=)	Hypomyelinating leukodystrophy 6 [RCV002529381]\|not specified [RCV000609945]	likely benign	19	6495941	6495941	Human	1	name , alternate_id
13537314	CV507586	single nucleotide variant	NM_006087.4(TUBB4A):c.114G>A (p.Gly38=)	Hypomyelinating leukodystrophy 6 [RCV002062901]\|not specified [RCV000610240]	likely benign	19	6501567	6501567	Human	1	name , alternate_id
13618370	CV533469	single nucleotide variant	NM_006087.4(TUBB4A):c.1316C>A (p.Ala439Glu)	Hypomyelinating leukodystrophy 6 [RCV000646035]	uncertain significance	19	6495183	6495183	Human	1	name , alternate_id
13618368	CV533480	single nucleotide variant	NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu)	Hypomyelinating leukodystrophy 6 [RCV000646034]	uncertain significance	19	6495730	6495730	Human	1	name , alternate_id
13813914	CV573423	single nucleotide variant	NM_006087.4(TUBB4A):c.686T>C (p.Val229Ala)	Hypomyelinating leukodystrophy 6 [RCV000704674]	likely pathogenic\|uncertain significance	19	6495813	6495813	Human	1	name , alternate_id
13808464	CV575063	single nucleotide variant	NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe)	Hypomyelinating leukodystrophy 6 [RCV000701647]	conflicting interpretations of pathogenicity\|uncertain significance	19	6495826	6495826	Human	1	name , alternate_id
14396899	CV613156	single nucleotide variant	NM_006087.4(TUBB4A):c.1311G>A (p.Glu437=)	Hypomyelinating leukodystrophy 6 [RCV001087839]\|not provided [RCV000761980]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	6495188	6495188	Human	1	name , alternate_id
14720215	CV648514	single nucleotide variant	NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val)	Hypomyelinating leukodystrophy 6 [RCV000812940]	uncertain significance	19	6495183	6495183	Human	1	name , alternate_id
14722513	CV648515	single nucleotide variant	NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg)	Hypomyelinating leukodystrophy 6 [RCV000797582]	uncertain significance	19	6495796	6495796	Human	1	name , alternate_id
14735670	CV648516	single nucleotide variant	NM_006087.4(TUBB4A):c.276T>C (p.Phe92=)	Hypomyelinating leukodystrophy 6 [RCV000819685]	likely benign\|uncertain significance	19	6501288	6501288	Human	1	name , alternate_id
8572477	CV65655	single nucleotide variant	NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)	Hypomyelinating leukodystrophy 6 [RCV000258667]\|Torsion dystonia 4 [RCV000043680]	pathogenic\|not provided	19	6502209	6502209	Human	2	name , alternate_id
8612009	CV65656	single nucleotide variant	NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)	Abnormality of the nervous system [RCV001814029]\|Hypomyelinating leukodystrophy 6 [RCV000043681]\|Torsion dystonia 4 [RCV001249621]\|not provided [RCV000255689]	pathogenic\|likely pathogenic	19	6495754	6495754	Human	4	name , alternate_id
14709410	CV656602	single nucleotide variant	NM_006087.4(TUBB4A):c.429G>C (p.Thr143=)	Hypomyelinating leukodystrophy 6 [RCV002067453]\|not provided [RCV000827424]	likely benign	19	6496070	6496070	Human	1	name , alternate_id
14978489	CV677462	single nucleotide variant	NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)	Torsion dystonia 4 [RCV000850614]	likely pathogenic	19	6495318	6495318	Human	1	name , alternate_id
15015289	CV679893	single nucleotide variant	NM_006087.4(TUBB4A):c.238C>T (p.Pro80Ser)	Hypomyelinating leukodystrophy 6 [RCV005092532]\|Torsion dystonia 4 [RCV000853496]	benign\|uncertain significance	19	6501326	6501326	Human	2	name , alternate_id
15121571	CV684854	single nucleotide variant	NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=)	Hypomyelinating leukodystrophy 6 [RCV000861893]\|Torsion dystonia 4 [RCV001135683]\|not provided [RCV001311150]	benign\|likely benign	19	6495200	6495200	Human	2	name , alternate_id
15162631	CV689160	single nucleotide variant	NM_006087.4(TUBB4A):c.741C>T (p.Asn247=)	Hypomyelinating leukodystrophy 6 [RCV000869465]\|not provided [RCV004808921]	likely benign	19	6495758	6495758	Human	1	name , alternate_id
15097734	CV689161	single nucleotide variant	NM_006087.4(TUBB4A):c.516G>A (p.Ser172=)	Hypomyelinating leukodystrophy 6 [RCV002064620]	likely benign	19	6495983	6495983	Human	1	name , alternate_id
15131903	CV694517	single nucleotide variant	NM_006087.4(TUBB4A):c.510G>A (p.Val170=)	Hypomyelinating leukodystrophy 6 [RCV002064837]\|not provided [RCV000876057]	benign	19	6495989	6495989	Human	1	name , alternate_id
15178997	CV705318	single nucleotide variant	NM_006087.4(TUBB4A):c.1305C>T (p.Phe435=)	Hypomyelinating leukodystrophy 6 [RCV001495706]\|not provided [RCV005427442]	likely benign	19	6495194	6495194	Human	1	name , alternate_id
15170728	CV728460	single nucleotide variant	NM_006087.4(TUBB4A):c.1317G>T (p.Ala439=)	Hypomyelinating leukodystrophy 6 [RCV002539316]	likely benign	19	6495182	6495182	Human	1	name , alternate_id
15122940	CV772936	single nucleotide variant	NM_006087.4(TUBB4A):c.621C>T (p.Leu207=)	Hypomyelinating leukodystrophy 6 [RCV001491477]	likely benign	19	6495878	6495878	Human	1	name , alternate_id
15122947	CV772938	single nucleotide variant	NM_006087.4(TUBB4A):c.120T>C (p.Ser40=)	Hypomyelinating leukodystrophy 6 [RCV001408714]	likely benign	19	6501561	6501561	Human	1	name , alternate_id
21073089	CV791961	single nucleotide variant	NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg)	Hypomyelinating leukodystrophy 6 [RCV000990137]	pathogenic	19	6495769	6495769	Human	1	name , alternate_id
21066408	CV797935	single nucleotide variant	NM_006087.4(TUBB4A):c.1329G>A (p.Val443=)	Hypomyelinating leukodystrophy 6 [RCV002550701]\|not provided [RCV000996720]	likely benign\|uncertain significance	19	6495170	6495170	Human	1	name , alternate_id
21074883	CV798758	single nucleotide variant	NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu)	Hypomyelinating leukodystrophy 6 [RCV000995672]	likely pathogenic	19	6495434	6495434	Human	1	name , alternate_id
21074884	CV798759	single nucleotide variant	NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser)	Hypomyelinating leukodystrophy 6 [RCV000995673]	likely pathogenic	19	6495445	6495445	Human	1	name , alternate_id
26912282	CV848096	single nucleotide variant	NM_006087.4(TUBB4A):c.361C>T (p.Arg121Trp)	Hypomyelinating leukodystrophy 6 [RCV001039167]	likely benign\|uncertain significance	19	6496138	6496138	Human	1	name , alternate_id
26905617	CV848097	single nucleotide variant	NM_006087.4(TUBB4A):c.271G>A (p.Val91Met)	Hypomyelinating leukodystrophy 6 [RCV001051376]	uncertain significance	19	6501293	6501293	Human	1	name , alternate_id
28897833	CV860621	single nucleotide variant	NM_006087.4(TUBB4A):c.327C>T (p.Gly109=)	Hypomyelinating leukodystrophy 6 [RCV002069611]\|not provided [RCV001092935]	likely benign\|uncertain significance	19	6496172	6496172	Human	1	name , alternate_id
28870702	CV882579	single nucleotide variant	NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)	Hypomyelinating leukodystrophy 6 [RCV001131323]\|Torsion dystonia 4 [RCV001131324]	conflicting interpretations of pathogenicity\|uncertain significance	19	6495833	6495833	Human	2	name , alternate_id
28876210	CV882580	single nucleotide variant	NM_006087.4(TUBB4A):c.630C>T (p.Ile210=)	Hypomyelinating leukodystrophy 6 [RCV001134314]\|Torsion dystonia 4 [RCV001134315]	uncertain significance	19	6495869	6495869	Human	2	name , alternate_id
28876215	CV882581	single nucleotide variant	NM_006087.4(TUBB4A):c.435C>T (p.Ser145=)	Hypomyelinating leukodystrophy 6 [RCV001134316]\|Torsion dystonia 4 [RCV001134317]\|not provided [RCV004570324]	benign\|likely benign	19	6496064	6496064	Human	2	name , alternate_id
38462785	CV919899	single nucleotide variant	NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu)	Hypomyelinating leukodystrophy 6 [RCV001198684]	uncertain significance	19	6495344	6495344	Human	1	name , alternate_id
38459467	CV919900	single nucleotide variant	NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu)	Hypomyelinating leukodystrophy 6 [RCV001195857]	likely pathogenic	19	6495478	6495478	Human	1	name , alternate_id
38460056	CV919901	single nucleotide variant	NM_006087.4(TUBB4A):c.557C>T (p.Thr186Met)	Hypomyelinating leukodystrophy 6 [RCV001196325]\|not provided [RCV004726943]	uncertain significance	19	6495942	6495942	Human	1	name , alternate_id
38484494	CV938867	single nucleotide variant	NM_006087.4(TUBB4A):c.855G>A (p.Thr285=)	Hypomyelinating leukodystrophy 6 [RCV001208073]	likely benign\|uncertain significance	19	6495644	6495644	Human	1	name , alternate_id
405111082	CV2942058	single nucleotide variant	NM_006088.6(TUBB4B):c.27C>T (p.Ala9=)	not provided [RCV003666256]	likely benign	9	137241387	137241387	Human		name
405025747	CV3075740	single nucleotide variant	NM_006088.6(TUBB4B):c.18C>T (p.His6=)	not provided [RCV003738646]	likely benign	9	137241378	137241378	Human		name
405133131	CV3051288	single nucleotide variant	NM_006088.6(TUBB4B):c.48C>A (p.Ile16=)	not provided [RCV003724948]	likely benign	9	137241408	137241408	Human		name
405142866	CV3055917	single nucleotide variant	NM_006088.6(TUBB4B):c.84C>T (p.His28=)	not provided [RCV003725737]	likely benign	9	137241747	137241747	Human		name
405240421	CV3060726	single nucleotide variant	NM_006088.6(TUBB4B):c.60T>C (p.Phe20=)	not provided [RCV003737114]	likely benign	9	137241723	137241723	Human		name
597945976	CV3755474	single nucleotide variant	NM_006088.6(TUBB4B):c.75C>T (p.Ser25=)	not provided [RCV005078483]	likely benign	9	137241738	137241738	Human		name
597928531	CV3851802	single nucleotide variant	NM_006088.6(TUBB4B):c.51C>A (p.Gly17=)	not provided [RCV005206270]	likely benign	9	137241411	137241411	Human		name
152102647	CV1523932	single nucleotide variant	NM_006088.6(TUBB4B):c.162C>T (p.Ala54=)	not provided [RCV002133459]	likely benign	9	137241825	137241825	Human		name
152139888	CV1549754	single nucleotide variant	NM_006088.6(TUBB4B):c.240C>T (p.Pro80=)	not provided [RCV002156624]	likely benign	9	137241984	137241984	Human		name
152170598	CV1578244	single nucleotide variant	NM_006088.6(TUBB4B):c.123C>T (p.Asp41=)	not provided [RCV002183209]	benign	9	137241786	137241786	Human		name
152153095	CV1610132	single nucleotide variant	NM_006088.6(TUBB4B):c.117C>T (p.Asp39=)	not provided [RCV002179757]	likely benign	9	137241780	137241780	Human		name
152176558	CV1631545	single nucleotide variant	NM_006088.6(TUBB4B):c.144C>T (p.Asn48=)	not provided [RCV002164704]	likely benign	9	137241807	137241807	Human		name
152982268	CV1677215	single nucleotide variant	NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val)	not specified [RCV002248920]	uncertain significance	9	137241379	137241379	Human		name
156206969	CV2000685	single nucleotide variant	NM_006088.6(TUBB4B):c.108C>T (p.Tyr36=)	not provided [RCV002666702]	likely benign	9	137241771	137241771	Human		name
156269909	CV2136444	single nucleotide variant	NM_006088.6(TUBB4B):c.207G>A (p.Glu69=)	not provided [RCV003009227]	likely benign	9	137241951	137241951	Human		name
401908407	CV2815306	single nucleotide variant	NM_006087.4(TUBB4A):c.291C>T (p.Ala97=)	not provided [RCV003423266]	likely benign	19	6496208	6496208	Human		name
405222276	CV2881009	single nucleotide variant	NM_006088.6(TUBB4B):c.138C>T (p.Arg46=)	not provided [RCV003554074]	likely benign	9	137241801	137241801	Human		name
402471351	CV3171469	single nucleotide variant	NM_006088.6(TUBB4B):c.111C>T (p.His37=)	not provided [RCV003874253]	likely benign	9	137241774	137241774	Human		name
405854099	CV3393768	single nucleotide variant	NM_006087.4(TUBB4A):c.189G>C (p.Ala63=)	not provided [RCV004546994]	likely benign	19	6501375	6501375	Human		name
408388695	CV3522698	single nucleotide variant	NM_006087.4(TUBB4A):c.16C>T (p.His6Tyr)	not provided [RCV004769079]	uncertain significance	19	6502197	6502197	Human		name
597635330	CV3632443	single nucleotide variant	NM_006087.4(TUBB4A):c.20T>C (p.Leu7Pro)	Inborn genetic diseases [RCV004969611]	uncertain significance	19	6502193	6502193	Human	1	name
597943227	CV3847632	single nucleotide variant	NM_006088.6(TUBB4B):c.204G>A (p.Leu68=)	not provided [RCV005188360]	likely benign	9	137241948	137241948	Human		name
126733714	CV1001147	single nucleotide variant	NM_006087.4(TUBB4A):c.351G>A (p.Leu117=)	not provided [RCV001311151]	likely benign	19	6496148	6496148	Human		name
151235804	CV1319200	single nucleotide variant	NM_006087.4(TUBB4A):c.34T>C (p.Cys12Arg)	TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia [RCV001797019]	uncertain significance	19	6502179	6502179	Human		name , trait
151774522	CV1505114	single nucleotide variant	NM_006088.6(TUBB4B):c.76G>C (p.Asp26His)	not provided [RCV001988562]	likely pathogenic	9	137241739	137241739	Human		name
152060030	CV1536215	single nucleotide variant	NM_006088.6(TUBB4B):c.738C>A (p.Leu246=)	not provided [RCV002146663]	likely benign	9	137242956	137242956	Human		name
152068667	CV1589060	single nucleotide variant	NM_006088.6(TUBB4B):c.334C>T (p.Leu112=)	not provided [RCV002209690]	benign	9	137242552	137242552	Human		name
152141313	CV1618682	single nucleotide variant	NM_006088.6(TUBB4B):c.861C>G (p.Pro287=)	not provided [RCV002156804]	likely benign	9	137243079	137243079	Human		name
152118508	CV1644225	single nucleotide variant	NM_006088.6(TUBB4B):c.597C>T (p.Thr199=)	not provided [RCV002135406]	likely benign	9	137242815	137242815	Human		name
156082576	CV1909034	single nucleotide variant	NM_006088.6(TUBB4B):c.534A>G (p.Thr178=)	not provided [RCV002591629]	likely benign	9	137242752	137242752	Human		name
156083232	CV1909073	single nucleotide variant	NM_006088.6(TUBB4B):c.318C>T (p.Tyr106=)	not provided [RCV002591649]	likely benign	9	137242536	137242536	Human		name
156217479	CV1910732	single nucleotide variant	NM_006088.6(TUBB4B):c.621C>G (p.Leu207=)	not provided [RCV002596328]	benign	9	137242839	137242839	Human		name
156418902	CV1918944	single nucleotide variant	NM_006088.6(TUBB4B):c.402G>A (p.Gln134=)	not provided [RCV002612113]	likely benign	9	137242620	137242620	Human		name
156381078	CV1964286	single nucleotide variant	NM_006088.6(TUBB4B):c.682C>T (p.Leu228=)	not provided [RCV002583170]	likely benign	9	137242900	137242900	Human		name
156070970	CV1971817	single nucleotide variant	NM_006088.6(TUBB4B):c.537G>C (p.Val179=)	not provided [RCV002591271]	likely benign	9	137242755	137242755	Human		name
156327120	CV1982222	single nucleotide variant	NM_006088.6(TUBB4B):c.345G>T (p.Ser115=)	not provided [RCV002649619]	likely benign	9	137242563	137242563	Human		name
156092386	CV1994427	single nucleotide variant	NM_006088.6(TUBB4B):c.672C>T (p.Asp224=)	not provided [RCV002639268]	likely benign	9	137242890	137242890	Human		name
155905091	CV2134471	single nucleotide variant	NM_006088.6(TUBB4B):c.552C>T (p.Asn184=)	not provided [RCV002967661]	likely benign	9	137242770	137242770	Human		name
155964871	CV2134742	single nucleotide variant	NM_006088.6(TUBB4B):c.327C>T (p.Gly109=)	not provided [RCV002972561]	benign\|likely benign	9	137242545	137242545	Human		name
155968876	CV2139610	single nucleotide variant	NM_006088.6(TUBB4B):c.849G>A (p.Ala283=)	not provided [RCV002995525]	likely benign	9	137243067	137243067	Human		name
243061922	CV2407106	single nucleotide variant	NM_006087.4(TUBB4A):c.537G>A (p.Val179=)	not provided [RCV003139189]	uncertain significance	19	6495962	6495962	Human		name
329353563	CV2477093	single nucleotide variant	NM_006088.6(TUBB4B):c.349C>T (p.Leu117=)	not provided [RCV003223325]	likely benign	9	137242567	137242567	Human		name
401857827	CV2750536	single nucleotide variant	NM_006087.4(TUBB4A):c.612C>T (p.Asn204=)	not provided [RCV003334209]	likely benign	19	6495887	6495887	Human		name
405202305	CV2873415	single nucleotide variant	NM_006088.6(TUBB4B):c.516G>A (p.Ser172=)	not provided [RCV003551386]	likely benign	9	137242734	137242734	Human		name
405224554	CV2887665	single nucleotide variant	NM_006088.6(TUBB4B):c.942C>T (p.Ala314=)	not provided [RCV003554356]	likely benign	9	137243160	137243160	Human		name
405223934	CV2891327	single nucleotide variant	NM_006088.6(TUBB4B):c.642C>T (p.Thr214=)	not provided [RCV003554250]	likely benign	9	137242860	137242860	Human		name
405126457	CV2939416	single nucleotide variant	NM_006088.6(TUBB4B):c.576C>G (p.Leu192=)	not provided [RCV003671929]	likely benign	9	137242794	137242794	Human		name
405222966	CV3056978	single nucleotide variant	NM_006088.6(TUBB4B):c.978G>A (p.Val326=)	not provided [RCV003733515]	likely benign	9	137243196	137243196	Human		name
405210507	CV3117603	single nucleotide variant	NM_006088.6(TUBB4B):c.855C>G (p.Thr285=)	not provided [RCV003823202]	likely benign	9	137243073	137243073	Human		name
404985976	CV3135384	single nucleotide variant	NM_006088.6(TUBB4B):c.456C>T (p.Ile152=)	not provided [RCV003826679]	likely benign	9	137242674	137242674	Human		name
405054556	CV3138448	single nucleotide variant	NM_006088.6(TUBB4B):c.531C>T (p.Asp177=)	not provided [RCV003832292]	likely benign	9	137242749	137242749	Human		name
402479991	CV3174391	single nucleotide variant	NM_006088.6(TUBB4B):c.306C>T (p.Ala102=)	not provided [RCV003875738]	likely benign	9	137242524	137242524	Human		name
405254368	CV3174979	single nucleotide variant	NM_006088.6(TUBB4B):c.687G>A (p.Val229=)	not provided [RCV003871431]	likely benign	9	137242905	137242905	Human		name
402517504	CV3178965	single nucleotide variant	NM_006088.6(TUBB4B):c.591C>T (p.Asp197=)	not provided [RCV003879398]	likely benign	9	137242809	137242809	Human		name
405268980	CV3187180	single nucleotide variant	NM_006087.4(TUBB4A):c.945C>A (p.Ala315=)	not provided [RCV003887264]	likely benign	19	6495554	6495554	Human		name
596945698	CV3548024	single nucleotide variant	NM_006087.4(TUBB4A):c.447G>A (p.Thr149=)	not provided [RCV004809355]	uncertain significance	19	6496052	6496052	Human		name
596947275	CV3548825	single nucleotide variant	NM_006087.4(TUBB4A):c.79G>C (p.Glu27Gln)	not provided [RCV004811149]	uncertain significance	19	6501602	6501602	Human		name
597875043	CV3747504	single nucleotide variant	NM_006088.6(TUBB4B):c.543G>A (p.Glu181=)	not provided [RCV005069188]	likely benign	9	137242761	137242761	Human		name
597842799	CV3752403	single nucleotide variant	NM_006088.6(TUBB4B):c.643C>T (p.Leu215=)	not provided [RCV005086809]	likely benign	9	137242861	137242861	Human		name
597874881	CV3775553	single nucleotide variant	NM_006088.6(TUBB4B):c.810T>C (p.Phe270=)	not provided [RCV005123283]	likely benign	9	137243028	137243028	Human		name
597901229	CV3779075	single nucleotide variant	NM_006088.6(TUBB4B):c.32A>G (p.Gln11Arg)	not provided [RCV005127152]	uncertain significance	9	137241392	137241392	Human		name
597906732	CV3804096	single nucleotide variant	NM_006088.6(TUBB4B):c.777G>A (p.Pro259=)	not provided [RCV005153642]	likely benign	9	137242995	137242995	Human		name
597918934	CV3811602	single nucleotide variant	NM_006088.6(TUBB4B):c.828G>A (p.Arg276=)	not provided [RCV005155433]	likely benign	9	137243046	137243046	Human		name
597962906	CV3819482	single nucleotide variant	NM_006088.6(TUBB4B):c.999C>G (p.Val333=)	not provided [RCV005164198]	likely benign	9	137243217	137243217	Human		name
597832271	CV3830957	single nucleotide variant	NM_006088.6(TUBB4B):c.849G>C (p.Ala283=)	not provided [RCV005170354]	likely benign	9	137243067	137243067	Human		name
597955852	CV3841954	single nucleotide variant	NM_006088.6(TUBB4B):c.831C>T (p.Gly277=)	not provided [RCV005191451]	likely benign	9	137243049	137243049	Human		name
15192043	CV700922	single nucleotide variant	NM_006088.6(TUBB4B):c.567C>T (p.Val189=)	not provided [RCV000954952]	benign	9	137242785	137242785	Human		name
15191755	CV772937	single nucleotide variant	NM_006087.4(TUBB4A):c.546C>T (p.Pro182=)	not provided [RCV000932890]	likely benign	19	6495953	6495953	Human		name
21066410	CV797936	single nucleotide variant	NM_006087.4(TUBB4A):c.777C>G (p.Pro259=)	not provided [RCV000996721]	uncertain significance	19	6495722	6495722	Human		name
151353262	CV1326292	single nucleotide variant	NM_006087.4(TUBB4A):c.256C>T (p.Arg86Trp)	not provided [RCV001816227]	uncertain significance	19	6501308	6501308	Human		name
151773155	CV1401298	single nucleotide variant	NM_006088.6(TUBB4B):c.1197G>A (p.Thr399=)	not provided [RCV002025556]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	137243415	137243415	Human		name
152145031	CV1576631	single nucleotide variant	NM_006088.6(TUBB4B):c.1140C>T (p.Arg380=)	not provided [RCV002101331]	likely benign	9	137243358	137243358	Human		name
152044211	CV1588526	single nucleotide variant	NM_006088.6(TUBB4B):c.1233C>G (p.Ala411=)	not provided [RCV002188641]	likely benign	9	137243451	137243451	Human		name
152090245	CV1624305	single nucleotide variant	NM_006088.6(TUBB4B):c.1260C>T (p.Ser420=)	not provided [RCV002150497]	likely benign	9	137243478	137243478	Human		name
152088233	CV1638873	single nucleotide variant	NM_006088.6(TUBB4B):c.1284C>T (p.Ala428=)	not provided [RCV002150241]	likely benign	9	137243502	137243502	Human		name
152100667	CV1648895	single nucleotide variant	NM_006088.6(TUBB4B):c.1200C>T (p.Gly400=)	not provided [RCV002213960]	benign	9	137243418	137243418	Human		name
152150464	CV1661484	single nucleotide variant	NM_006088.6(TUBB4B):c.1221G>A (p.Glu407=)	not provided [RCV002179368]	likely benign	9	137243439	137243439	Human		name
155952612	CV1922052	single nucleotide variant	NM_006088.6(TUBB4B):c.1053G>A (p.Thr351=)	not provided [RCV002616305]	likely benign	9	137243271	137243271	Human		name
156375955	CV1930476	single nucleotide variant	NM_006088.6(TUBB4B):c.1251C>T (p.Asp417=)	not provided [RCV002633833]	likely benign	9	137243469	137243469	Human		name
155918952	CV2073600	single nucleotide variant	NM_006088.6(TUBB4B):c.1197G>C (p.Thr399=)	not provided [RCV002838212]	likely benign	9	137243415	137243415	Human		name
155991135	CV2276552	single nucleotide variant	NM_006087.4(TUBB4A):c.115G>T (p.Asp39Tyr)	Inborn genetic diseases [RCV002864518]	uncertain significance	19	6501566	6501566	Human	1	name
401908409	CV2815304	single nucleotide variant	NM_006087.4(TUBB4A):c.1287G>C (p.Thr429=)	not provided [RCV003423264]	likely benign	19	6495212	6495212	Human		name
401944911	CV2840728	single nucleotide variant	NM_006088.6(TUBB4B):c.1206C>A (p.Gly402=)	not provided [RCV003457582]	likely benign	9	137243424	137243424	Human		name
405235819	CV2887723	single nucleotide variant	NM_006088.6(TUBB4B):c.1146C>T (p.Ser382=)	not provided [RCV003556376]	likely benign	9	137243364	137243364	Human		name
405177264	CV2915628	single nucleotide variant	NM_006088.6(TUBB4B):c.1233C>T (p.Ala411=)	not provided [RCV003563531]	likely benign	9	137243451	137243451	Human		name
402502451	CV2932385	single nucleotide variant	NM_006088.6(TUBB4B):c.1302C>T (p.Gly434=)	not provided [RCV003574063]	likely benign	9	137243520	137243520	Human		name
405252100	CV3046386	single nucleotide variant	NM_006088.6(TUBB4B):c.1308C>T (p.Phe436=)	not provided [RCV003722070]	likely benign	9	137243526	137243526	Human		name
405081153	CV3050410	single nucleotide variant	NM_006088.6(TUBB4B):c.1290C>G (p.Ala430=)	not provided [RCV003717068]	likely benign	9	137243508	137243508	Human		name
405241425	CV3061052	single nucleotide variant	NM_006088.6(TUBB4B):c.1212C>T (p.Asp404=)	not provided [RCV003737294]	likely benign	9	137243430	137243430	Human		name
405035349	CV3072441	single nucleotide variant	NM_006088.6(TUBB4B):c.169G>A (p.Gly57Ser)	not provided [RCV003739410]	uncertain significance	9	137241913	137241913	Human		name
405216020	CV3124605	single nucleotide variant	NM_006088.6(TUBB4B):c.1011C>T (p.Asn337=)	not provided [RCV003823967]	likely benign	9	137243229	137243229	Human		name
405809272	CV3347933	single nucleotide variant	NM_006087.4(TUBB4A):c.188C>T (p.Ala63Val)	Inborn genetic diseases [RCV004481628]	uncertain significance	19	6501376	6501376	Human	1	name
596920635	CV3534085	single nucleotide variant	NM_006087.4(TUBB4A):c.1278G>A (p.Gln426=)	not specified [RCV004783303]	likely benign	19	6495221	6495221	Human		name
596947294	CV3548844	single nucleotide variant	NM_006087.4(TUBB4A):c.1158G>A (p.Thr386=)	not provided [RCV004811168]	likely benign	19	6495341	6495341	Human		name
597949467	CV3745967	single nucleotide variant	NM_006088.6(TUBB4B):c.1068C>T (p.Ile356=)	not provided [RCV005079151]	likely benign	9	137243286	137243286	Human		name
597971782	CV3802702	single nucleotide variant	NM_006088.6(TUBB4B):c.1252C>T (p.Leu418=)	not provided [RCV005142300]	likely benign	9	137243470	137243470	Human		name
597931084	CV3863172	single nucleotide variant	NM_006088.6(TUBB4B):c.1110C>T (p.Asn370=)	not provided [RCV005206698]	likely benign	9	137243328	137243328	Human		name
598228232	CV3894606	single nucleotide variant	NM_006087.4(TUBB4A):c.260C>T (p.Pro87Leu)	not provided [RCV005257850]	uncertain significance	19	6501304	6501304	Human		name
616939405	CV4013768	deletion	NM_006087.4(TUBB4A):c.702del (p.Ser234fs)	Frontotemporal dementia [RCV005413261]	uncertain significance	19	6495797	6495797	Human	2	name
13481187	CV446196	single nucleotide variant	NM_006087.4(TUBB4A):c.292G>A (p.Gly98Ser)	not provided [RCV000521442]	uncertain significance	19	6496207	6496207	Human		name
13522223	CV490705	single nucleotide variant	NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp)	Inborn genetic diseases [RCV001266342]\|not provided [RCV000591466]	likely pathogenic\|uncertain significance	19	6496206	6496206	Human	1	name
14396903	CV613157	single nucleotide variant	NM_006087.4(TUBB4A):c.292G>C (p.Gly98Arg)	not provided [RCV000761981]	likely pathogenic\|uncertain significance	19	6496207	6496207	Human		name
14396907	CV613158	single nucleotide variant	NM_006087.4(TUBB4A):c.239C>T (p.Pro80Leu)	not provided [RCV000761982]	likely benign\|uncertain significance	19	6501325	6501325	Human		name
15157912	CV751602	single nucleotide variant	NM_006088.6(TUBB4B):c.1183C>T (p.Leu395=)	not provided [RCV000924960]	likely benign	9	137243401	137243401	Human		name
126737761	CV1021954	single nucleotide variant	NM_006087.4(TUBB4A):c.854C>A (p.Thr285Lys)	Torsion dystonia 4 [RCV001335377]	likely pathogenic	19	6495645	6495645	Human	1	name
150545575	CV1293858	single nucleotide variant	NM_006087.4(TUBB4A):c.422G>A (p.Gly141Asp)	not provided [RCV001763039]	uncertain significance	19	6496077	6496077	Human		name
150551865	CV1300730	single nucleotide variant	NM_006087.4(TUBB4A):c.834C>A (p.Ser278Arg)	not provided [RCV001754590]	uncertain significance	19	6495665	6495665	Human		name
151739279	CV1379340	duplication	NM_006088.6(TUBB4B):c.665dup (p.Tyr222Ter)	not provided [RCV001911768]	uncertain significance	9	137242882	137242883	Human		name
151871007	CV1413508	single nucleotide variant	NM_006088.6(TUBB4B):c.935C>T (p.Thr312Met)	not provided [RCV001998334]	uncertain significance	9	137243153	137243153	Human		name
152056586	CV1670469	single nucleotide variant	NM_006088.6(TUBB4B):c.784C>T (p.Arg262Trp)	not provided [RCV002225989]	uncertain significance	9	137243002	137243002	Human		name
153000515	CV1683101	single nucleotide variant	NM_006087.4(TUBB4A):c.511C>A (p.Pro171Thr)	See cases [RCV002253111]	uncertain significance	19	6495988	6495988	Human		name
153301951	CV1689378	single nucleotide variant	NM_006087.4(TUBB4A):c.487A>G (p.Ile163Val)	not provided [RCV002267328]	uncertain significance	19	6496012	6496012	Human		name
153302806	CV1689652	single nucleotide variant	NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)	Torsion dystonia 4 [RCV002267599]	uncertain significance	19	6495777	6495777	Human	1	name
155697048	CV1690794	single nucleotide variant	NM_006087.4(TUBB4A):c.982G>A (p.Glu328Lys)	Torsion dystonia 4 [RCV002295367]	uncertain significance	19	6495517	6495517	Human	1	name
329954562	CV1859577	single nucleotide variant	NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)	Classic medulloblastoma [RCV003232622]	uncertain significance	19	6495928	6495928	Human	1	name
155796334	CV1861793	single nucleotide variant	NM_006087.4(TUBB4A):c.900G>A (p.Met300Ile)	not specified [RCV002470075]	uncertain significance	19	6495599	6495599	Human		name
155800485	CV1863630	single nucleotide variant	NM_006088.6(TUBB4B):c.776C>T (p.Pro259Leu)	not provided [RCV002474053]	uncertain significance	9	137242994	137242994	Human		name
10409087	CV208627	single nucleotide variant	NM_006087.4(TUBB4A):c.667G>A (p.Gly223Arg)	not specified [RCV000195271]	likely benign\|uncertain significance	19	6495832	6495832	Human		name
156315785	CV2250820	single nucleotide variant	NM_006087.4(TUBB4A):c.845G>A (p.Arg282Gln)	Inborn genetic diseases [RCV002809501]	uncertain significance	19	6495654	6495654	Human	1	name
401723157	CV2737789	single nucleotide variant	NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)	not provided [RCV003314961]\|not specified [RCV003388221]	likely pathogenic\|uncertain significance	19	6495976	6495976	Human		name
401829717	CV2747533	single nucleotide variant	NM_006088.6(TUBB4B):c.785G>A (p.Arg262Gln)	not provided [RCV003328999]	uncertain significance	9	137243003	137243003	Human		name
405256203	CV3222058	single nucleotide variant	NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)	Brown syndrome [RCV003984295]	uncertain significance	19	6495699	6495699	Human	2	name
405688257	CV3228475	single nucleotide variant	NM_006088.6(TUBB4B):c.928T>C (p.Tyr310His)	Leber congenital amaurosis with early-onset deafness [RCV004006210]	uncertain significance	9	137243146	137243146	Human	1	name
408392672	CV3525318	single nucleotide variant	NM_006087.4(TUBB4A):c.338T>C (p.Val113Ala)	not provided [RCV004771204]	uncertain significance	19	6496161	6496161	Human		name
408393375	CV3525503	single nucleotide variant	NM_006088.6(TUBB4B):c.775C>T (p.Pro259Ser)	not provided [RCV004771389]	pathogenic	9	137242993	137242993	Human		name
408387772	CV3527191	single nucleotide variant	NM_006087.4(TUBB4A):c.752G>A (p.Arg251His)	not provided [RCV004773493]	uncertain significance	19	6495747	6495747	Human		name
408388757	CV3529033	single nucleotide variant	NM_006087.4(TUBB4A):c.741C>G (p.Asn247Lys)	not provided [RCV004773855]	uncertain significance	19	6495758	6495758	Human		name
12742284	CV360447	single nucleotide variant	NM_006087.4(TUBB4A):c.535G>C (p.Val179Leu)	not provided [RCV000413308]	pathogenic	19	6495964	6495964	Human		name
597635322	CV3632441	single nucleotide variant	NM_006087.4(TUBB4A):c.735G>T (p.Gln245His)	Inborn genetic diseases [RCV004969609]	uncertain significance	19	6495764	6495764	Human	1	name
597854196	CV3762447	single nucleotide variant	NM_006087.4(TUBB4A):c.484C>T (p.Arg162Cys)	not specified [RCV005088363]	uncertain significance	19	6496015	6496015	Human		name
597933171	CV3789928	single nucleotide variant	NM_006088.6(TUBB4B):c.625G>A (p.Asp209Asn)	not provided [RCV005132007]	uncertain significance	9	137242843	137242843	Human		name
598128253	CV3887452	single nucleotide variant	NM_006087.4(TUBB4A):c.722G>A (p.Arg241His)	not provided [RCV005243625]	uncertain significance	19	6495777	6495777	Human		name
616938990	CV4015318	single nucleotide variant	NM_006087.4(TUBB4A):c.607G>C (p.Asp203His)	not provided [RCV005412828]	uncertain significance	19	6495892	6495892	Human		name
617149455	CV4018751	single nucleotide variant	NM_006087.4(TUBB4A):c.460A>G (p.Lys154Glu)	not provided [RCV005422663]	uncertain significance	19	6496039	6496039	Human		name
12906031	CV413492	single nucleotide variant	NM_006087.4(TUBB4A):c.538G>A (p.Val180Met)	Torsion dystonia 4 [RCV002248713]\|not provided [RCV000488334]	likely pathogenic\|uncertain significance	19	6495961	6495961	Human	1	name
12914026	CV422300	single nucleotide variant	NM_006087.4(TUBB4A):c.895A>T (p.Met299Leu)	not provided [RCV000494554]	uncertain significance	19	6495604	6495604	Human		name
8574058	CV97543	single nucleotide variant	NM_006087.4(TUBB4A):c.811G>A (p.Ala271Thr)	Torsion dystonia 4 [RCV000077783]\|not provided [RCV004814998]	pathogenic\|uncertain significance	19	6495688	6495688	Human	1	name
151662922	CV1333541	single nucleotide variant	NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)	Leber congenital amaurosis with early-onset deafness [RCV001837733]\|not provided [RCV003389263]	pathogenic\|uncertain significance	9	137243290	137243290	Human	1	name
153302376	CV1689584	single nucleotide variant	NM_006087.4(TUBB4A):c.1160C>A (p.Ala387Asp)	not provided [RCV002267535]	uncertain significance	19	6495339	6495339	Human		name
155912495	CV2081312	single nucleotide variant	NM_006088.6(TUBB4B):c.1159G>T (p.Ala387Ser)	not provided [RCV002858595]	uncertain significance	9	137243377	137243377	Human		name
243051228	CV2415729	single nucleotide variant	NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp)	Torsion dystonia 4 [RCV003148336]	uncertain significance	19	6495210	6495210	Human	1	name
329952594	CV2671847	single nucleotide variant	NM_006087.4(TUBB4A):c.1139G>T (p.Arg380Leu)	not provided [RCV003237244]	uncertain significance	19	6495360	6495360	Human		name
405688247	CV3228473	single nucleotide variant	NM_006088.6(TUBB4B):c.1169G>A (p.Arg390Gln)	Leber congenital amaurosis with early-onset deafness [RCV004006208]	uncertain significance	9	137243387	137243387	Human	1	name
405688254	CV3228474	single nucleotide variant	NM_006088.6(TUBB4B):c.1168C>T (p.Arg390Trp)	Leber congenital amaurosis with early-onset deafness [RCV004006209]	uncertain significance	9	137243386	137243386	Human	1	name
405873379	CV3398527	single nucleotide variant	NM_006087.4(TUBB4A):c.1276C>G (p.Gln426Glu)	not provided [RCV004576023]	uncertain significance	19	6495223	6495223	Human		name
408370060	CV3502986	single nucleotide variant	NM_006088.6(TUBB4B):c.1075C>T (p.Arg359Trp)	not provided [RCV004724107]	uncertain significance	9	137243293	137243293	Human		name
408381190	CV3523788	single nucleotide variant	NM_006088.6(TUBB4B):c.1052C>T (p.Thr351Met)	not provided [RCV004766186]	uncertain significance	9	137243270	137243270	Human		name
408388394	CV3527483	single nucleotide variant	NM_006087.4(TUBB4A):c.1055C>T (p.Ala352Val)	not provided [RCV004773787]	uncertain significance	19	6495444	6495444	Human		name
597635326	CV3632442	single nucleotide variant	NM_006087.4(TUBB4A):c.1016G>C (p.Ser339Thr)	Inborn genetic diseases [RCV004969610]	uncertain significance	19	6495483	6495483	Human	1	name
598125987	CV3886008	single nucleotide variant	NM_006087.4(TUBB4A):c.1164G>T (p.Met388Ile)	not provided [RCV005241811]	pathogenic	19	6495335	6495335	Human		name
13508670	CV485877	single nucleotide variant	NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)	Leber congenital amaurosis with early-onset deafness [RCV000584731]\|not provided [RCV001683598]	pathogenic\|likely pathogenic	9	137243390	137243390	Human	1	name
13508671	CV485878	single nucleotide variant	NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)	Leber congenital amaurosis with early-onset deafness [RCV000584738]\|not provided [RCV001755979]	pathogenic\|likely pathogenic\|uncertain significance	9	137243389	137243389	Human	1	name
13530213	CV512438	single nucleotide variant	NM_006087.4(TUBB4A):c.1030T>C (p.Trp344Arg)	Inborn genetic diseases [RCV000622318]	uncertain significance	19	6495469	6495469	Human	1	name
28888657	CV860620	single nucleotide variant	NM_006087.4(TUBB4A):c.1049A>C (p.Lys350Thr)	not provided [RCV001092108]	likely pathogenic	19	6495450	6495450	Human		name
40886972	CV974184	single nucleotide variant	NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr)	Inborn genetic diseases [RCV001266319]	likely pathogenic	19	6495259	6495259	Human	1	name
41405285	CV982203	single nucleotide variant	NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val)	not provided [RCV001812510]	likely pathogenic	19	6495321	6495321	Human		name
38463289	CV919212	microsatellite	NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs)	Leber congenital amaurosis with early-onset deafness [RCV001198951]	uncertain significance	9	137242802	137242803	Human		name
150541366	CV1298764	inversion	NM_006087.4(TUBB4A):c.374_375inv (p.Glu125Ala)	not provided [RCV001760912]	uncertain significance	19	6496124	6496125	Human		name
150552887	CV1295555	deletion	NM_006087.4(TUBB4A):c.1055_1057del (p.Ala352del)	not provided [RCV001768487]	uncertain significance	19	6495442	6495444	Human		name
329350029	CV2477252	indel	NM_006088.6(TUBB4B):c.526_527delinsAT (p.Ser176Ile)	not provided [RCV003221577]	uncertain significance	9	137242744	137242745	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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