Stam Variant Search Result - Rat Genome Database

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378 records found for search term Stam

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15124963	CV779375	single nucleotide variant	NM_003473.4(STAM):c.728+4A>G	not provided [RCV000963500]	benign	10	17695245	17695245	Human		name
15098678	CV701277	single nucleotide variant	NM_003473.4(STAM):c.123T>C (p.Thr41=)	not provided [RCV000958615]	benign	10	17660546	17660546	Human		name
156227892	CV2199362	single nucleotide variant	NM_003473.4(STAM):c.119G>A (p.Arg40His)	not specified [RCV004070938]	uncertain significance	10	17660542	17660542	Human		name
156381014	CV2218490	single nucleotide variant	NM_003473.4(STAM):c.116C>G (p.Ser39Cys)	not specified [RCV004090770]	uncertain significance	10	17660539	17660539	Human		name
401721491	CV2709985	single nucleotide variant	NM_003473.4(STAM):c.184G>A (p.Ala62Thr)	not specified [RCV004315051]	uncertain significance	10	17684733	17684733	Human		name
405722181	CV3323701	single nucleotide variant	NM_003473.4(STAM):c.121A>C (p.Thr41Pro)	not specified [RCV004463302]	uncertain significance	10	17660544	17660544	Human		name
405722208	CV3323705	single nucleotide variant	NM_003473.4(STAM):c.217G>T (p.Val73Leu)	not specified [RCV004463306]	uncertain significance	10	17684847	17684847	Human		name
598250104	CV3919360	single nucleotide variant	NM_003473.4(STAM):c.143G>C (p.Arg48Pro)	not specified [RCV005277672]	uncertain significance	10	17684692	17684692	Human		name
598250137	CV3919364	single nucleotide variant	NM_003473.4(STAM):c.1338C>T (p.Ser446=)	not specified [RCV005277676]	likely benign	10	17708904	17708904	Human		name
155915701	CV2200481	single nucleotide variant	NM_003473.4(STAM):c.694A>G (p.Lys232Glu)	not specified [RCV004078837]	uncertain significance	10	17695207	17695207	Human		name
156308066	CV2249463	single nucleotide variant	NM_003473.4(STAM):c.988C>A (p.Leu330Ile)	not specified [RCV004120516]	uncertain significance	10	17704506	17704506	Human		name
155903999	CV2282332	single nucleotide variant	NM_003473.4(STAM):c.992A>G (p.His331Arg)	not specified [RCV004133158]	uncertain significance	10	17704510	17704510	Human		name
156165159	CV2330028	single nucleotide variant	NM_003473.4(STAM):c.947G>A (p.Ser316Asn)	not specified [RCV004185520]	uncertain significance	10	17704465	17704465	Human		name
156055478	CV2370860	single nucleotide variant	NM_003473.4(STAM):c.577A>G (p.Thr193Ala)	not specified [RCV004218604]	uncertain significance	10	17695090	17695090	Human		name
329368837	CV2424669	single nucleotide variant	NM_003473.4(STAM):c.329C>G (p.Ala110Gly)	not specified [RCV004254538]	uncertain significance	10	17688058	17688058	Human		name
329351767	CV2455276	single nucleotide variant	NM_003473.4(STAM):c.512A>T (p.Lys171Ile)	not specified [RCV004274789]	uncertain significance	10	17693289	17693289	Human		name
401730972	CV2686816	single nucleotide variant	NM_003473.4(STAM):c.877A>G (p.Ile293Val)	not specified [RCV004301996]	uncertain significance	10	17700244	17700244	Human		name
401735512	CV2699287	single nucleotide variant	NM_003473.4(STAM):c.500T>A (p.Val167Glu)	not specified [RCV004305550]	uncertain significance	10	17693277	17693277	Human		name
405722223	CV3323707	single nucleotide variant	NM_003473.4(STAM):c.627A>C (p.Gln209His)	not specified [RCV004463308]	uncertain significance	10	17695140	17695140	Human		name
405722231	CV3323708	single nucleotide variant	NM_003473.4(STAM):c.977T>C (p.Leu326Pro)	not specified [RCV004463309]	uncertain significance	10	17704495	17704495	Human		name
407495647	CV3485270	single nucleotide variant	NM_003473.4(STAM):c.647G>A (p.Arg216His)	not specified [RCV004667930]	uncertain significance	10	17695160	17695160	Human		name
407530073	CV3485273	single nucleotide variant	NM_003473.4(STAM):c.649G>T (p.Ala217Ser)	not specified [RCV004681614]	uncertain significance	10	17695162	17695162	Human		name
407495659	CV3485274	single nucleotide variant	NM_003473.4(STAM):c.533A>T (p.Lys178Ile)	not specified [RCV004667933]	uncertain significance	10	17693310	17693310	Human		name
597746560	CV3618333	single nucleotide variant	NM_003473.4(STAM):c.646C>T (p.Arg216Cys)	not specified [RCV004865899]	uncertain significance	10	17695159	17695159	Human		name
597746575	CV3618338	single nucleotide variant	NM_003473.4(STAM):c.677A>G (p.Asp226Gly)	not specified [RCV004865902]	uncertain significance	10	17695190	17695190	Human		name
597682560	CV3618339	single nucleotide variant	NM_003473.4(STAM):c.560A>G (p.Gln187Arg)	not specified [RCV004857659]	uncertain significance	10	17695073	17695073	Human		name
597746580	CV3618340	single nucleotide variant	NM_003473.4(STAM):c.745A>G (p.Lys249Glu)	not specified [RCV004865903]	uncertain significance	10	17696791	17696791	Human		name
597746586	CV3618341	single nucleotide variant	NM_003473.4(STAM):c.842C>T (p.Thr281Met)	not specified [RCV004865904]	uncertain significance	10	17700209	17700209	Human		name
598250120	CV3919362	single nucleotide variant	NM_003473.4(STAM):c.463G>A (p.Ala155Thr)	not specified [RCV005277674]	uncertain significance	10	17693240	17693240	Human		name
598250128	CV3919363	single nucleotide variant	NM_003473.4(STAM):c.349G>C (p.Asp117His)	not specified [RCV005277675]	uncertain significance	10	17688078	17688078	Human		name
156259194	CV2204717	single nucleotide variant	NM_003473.4(STAM):c.1490T>G (p.Leu497Arg)	not specified [RCV004074980]	uncertain significance	10	17714647	17714647	Human		name
155947718	CV2245759	single nucleotide variant	NM_003473.4(STAM):c.1603T>C (p.Ser535Pro)	not specified [RCV004111620]	uncertain significance	10	17714760	17714760	Human		name
156271618	CV2315796	single nucleotide variant	NM_003473.4(STAM):c.1587G>T (p.Gln529His)	not specified [RCV004171581]	uncertain significance	10	17714744	17714744	Human		name
156325929	CV2335387	single nucleotide variant	NM_003473.4(STAM):c.1256A>T (p.Asn419Ile)	not specified [RCV004186942]	uncertain significance	10	17708822	17708822	Human		name
156293353	CV2336456	single nucleotide variant	NM_003473.4(STAM):c.1295C>T (p.Pro432Leu)	not specified [RCV004194669]	uncertain significance	10	17708861	17708861	Human		name
155915558	CV2339153	single nucleotide variant	NM_003473.4(STAM):c.1511A>G (p.Asn504Ser)	not specified [RCV004187193]	likely benign	10	17714668	17714668	Human		name
156161121	CV2398242	single nucleotide variant	NM_003473.4(STAM):c.1274T>G (p.Leu425Arg)	not specified [RCV004235155]	uncertain significance	10	17708840	17708840	Human		name
329369827	CV2461239	single nucleotide variant	NM_003473.4(STAM):c.1322C>A (p.Ala441Glu)	not specified [RCV004267424]	uncertain significance	10	17708888	17708888	Human		name
401778218	CV2712859	single nucleotide variant	NM_003473.4(STAM):c.1435G>A (p.Val479Ile)	not specified [RCV004314271]	uncertain significance	10	17714592	17714592	Human		name
401779424	CV2718544	single nucleotide variant	NM_003473.4(STAM):c.1405C>G (p.Gln469Glu)	not specified [RCV004318346]	uncertain significance	10	17714562	17714562	Human		name
401861639	CV2779969	single nucleotide variant	NM_003473.4(STAM):c.1306T>C (p.Ser436Pro)	not specified [RCV004353560]	uncertain significance	10	17708872	17708872	Human		name
405722174	CV3323700	single nucleotide variant	NM_003473.4(STAM):c.1109T>C (p.Leu370Ser)	not specified [RCV004463301]	uncertain significance	10	17705641	17705641	Human		name
405722188	CV3323702	single nucleotide variant	NM_003473.4(STAM):c.1334C>T (p.Pro445Leu)	not specified [RCV004463303]	uncertain significance	10	17708900	17708900	Human		name
405722193	CV3323703	single nucleotide variant	NM_003473.4(STAM):c.1340C>T (p.Ala447Val)	not specified [RCV004463304]	uncertain significance	10	17708906	17708906	Human		name
405722201	CV3323704	single nucleotide variant	NM_003473.4(STAM):c.1579C>T (p.Pro527Ser)	not specified [RCV004463305]	uncertain significance	10	17714736	17714736	Human		name
407495650	CV3485271	single nucleotide variant	NM_003473.4(STAM):c.1526C>G (p.Pro509Arg)	not specified [RCV004667931]	uncertain significance	10	17714683	17714683	Human		name
407495655	CV3485272	single nucleotide variant	NM_003473.4(STAM):c.1430C>T (p.Ala477Val)	not specified [RCV004667932]	uncertain significance	10	17714587	17714587	Human		name
597746565	CV3618334	single nucleotide variant	NM_003473.4(STAM):c.1316G>C (p.Ser439Thr)	not specified [RCV004865900]	uncertain significance	10	17708882	17708882	Human		name
597682551	CV3618335	single nucleotide variant	NM_003473.4(STAM):c.1375G>A (p.Ala459Thr)	not specified [RCV004857658]	uncertain significance	10	17708941	17708941	Human		name
597746570	CV3618337	single nucleotide variant	NM_003473.4(STAM):c.1171C>G (p.Pro391Ala)	not specified [RCV004865901]	uncertain significance	10	17705703	17705703	Human		name
597682569	CV3618342	single nucleotide variant	NM_003473.4(STAM):c.1147A>C (p.Met383Leu)	not specified [RCV004857660]	uncertain significance	10	17705679	17705679	Human		name
597746591	CV3618343	single nucleotide variant	NM_003473.4(STAM):c.1079T>G (p.Leu360Arg)	not specified [RCV004865905]	uncertain significance	10	17705611	17705611	Human		name
598250113	CV3919361	single nucleotide variant	NM_003473.4(STAM):c.1241A>G (p.Tyr414Cys)	not specified [RCV005277673]	uncertain significance	10	17708807	17708807	Human		name
598213912	CV3919365	single nucleotide variant	NM_003473.4(STAM):c.1376C>T (p.Ala459Val)	not specified [RCV005271084]	uncertain significance	10	17708942	17708942	Human		name
598250144	CV3919366	single nucleotide variant	NM_003473.4(STAM):c.1348G>T (p.Ala450Ser)	not specified [RCV005277677]	uncertain significance	10	17708914	17708914	Human		name
598250152	CV3919367	single nucleotide variant	NM_003473.4(STAM):c.1593G>T (p.Gln531His)	not specified [RCV005277678]	uncertain significance	10	17714750	17714750	Human		name
150445503	CV1233189	single nucleotide variant	NM_007347.5(AP4E1):c.1967-91A>G	Hereditary spastic paraplegia 51 [RCV002260248]\|Stuttering, familial persistent, 1 [RCV002260249]\|not provided [RCV001645862]	benign	15	50983931	50983931	Human	3	alternate_id
150456291	CV1235186	duplication	NM_007347.5(AP4E1):c.3096-57dup	Hereditary spastic paraplegia 51 [RCV002260255]\|Stuttering, familial persistent, 1 [RCV002260256]\|not provided [RCV001648602]	benign	15	51000967	51000968	Human	3	alternate_id
150454793	CV1266073	insertion	NM_007347.5(AP4E1):c.222+48_222+49insT	Hereditary spastic paraplegia 51 [RCV002260336]\|Stuttering, familial persistent, 1 [RCV002260337]\|not provided [RCV001692650]	benign	15	50912197	50912198	Human	3	alternate_id
150493517	CV1267162	deletion	NM_007347.5(AP4E1):c.1316+44_1316+54del	Hereditary spastic paraplegia 51 [RCV002260342]\|Stuttering, familial persistent, 1 [RCV002260343]\|not provided [RCV001688190]	benign	15	50948202	50948212	Human	3	alternate_id
150460791	CV1275872	single nucleotide variant	NM_007347.5(AP4E1):c.346+50G>C	Hereditary spastic paraplegia 51 [RCV002260362]\|Stuttering, familial persistent, 1 [RCV002260363]\|not provided [RCV001709810]	benign	15	50915621	50915621	Human	3	alternate_id
8658981	CV133841	single nucleotide variant	NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)	Hereditary spastic paraplegia 51 [RCV002259606]\|Hereditary spastic paraplegia [RCV001847659]\|Spastic paraplegia [RCV000633116]\|Stuttering, familial persistent, 1 [RCV002259607]\|not provided [RCV004703378]\|not specified [RCV000116356]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	50941684	50941684	Human	6	alternate_id
8658982	CV133842	single nucleotide variant	NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)	AP4E1-related disorder [RCV003915137]\|Hereditary spastic paraplegia 51 [RCV002259608]\|Hereditary spastic paraplegia [RCV001847660]\|Spastic paraplegia [RCV001080601]\|Stuttering, familial persistent, 1 [RCV002259609]\|not provided [RCV000224329]\|not specified [RCV000116357]	benign\|likely benign	15	50948126	50948126	Human	7	alternate_id
8658983	CV133844	single nucleotide variant	NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)	AP4E1-related disorder [RCV003925122]\|Hereditary spastic paraplegia 51 [RCV002259610]\|Spastic paraplegia [RCV000860888]\|Stuttering, familial persistent, 1 [RCV002259611]\|not provided [RCV004715668]\|not specified [RCV000116359]	benign	15	50997408	50997408	Human	6	alternate_id
8658986	CV133847	single nucleotide variant	NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)	AP4E1-related disorder [RCV003915138]\|Hereditary spastic paraplegia 51 [RCV002259612]\|Hereditary spastic paraplegia [RCV001847661]\|Spastic paraplegia [RCV001085301]\|Stuttering, familial persistent, 1 [RCV002259613]\|not provided [RCV000224527]\|not specified [RCV000116362]	benign\|likely benign	15	50997734	50997734	Human	7	alternate_id
8658987	CV133848	single nucleotide variant	NM_007347.5(AP4E1):c.2905-8A>G	Hereditary spastic paraplegia 51 [RCV002259614]\|Hereditary spastic paraplegia [RCV001847662]\|Spastic paraplegia [RCV000476037]\|Stuttering, familial persistent, 1 [RCV002259615]\|not specified [RCV000116363]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	50999064	50999064	Human	6	alternate_id
8658990	CV133851	single nucleotide variant	NM_007347.5(AP4E1):c.613C>A (p.His205Asn)	Hereditary spastic paraplegia [RCV001847663]\|Inborn genetic diseases [RCV002514584]\|Spastic paraplegia [RCV000460419]\|Stuttering, familial persistent, 1 [RCV000763973]\|not provided [RCV000116366]	uncertain significance	15	50929079	50929079	Human	6	alternate_id
151733681	CV1509924	single nucleotide variant	NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)	Spastic paraplegia [RCV001892513]\|Stuttering, familial persistent, 1 [RCV002506955]	uncertain significance	15	50923966	50923966	Human	4	alternate_id
10403377	CV208211	single nucleotide variant	NM_007347.5(AP4E1):c.1177-9T>C	Hereditary spastic paraplegia 51 [RCV002259730]\|Hereditary spastic paraplegia [RCV001847851]\|Spastic paraplegia [RCV000226376]\|Stuttering, familial persistent, 1 [RCV002259731]\|not provided [RCV001701787]\|not specified [RCV000192376]	benign\|likely benign	15	50948011	50948011	Human	6	alternate_id
597710687	CV3703951	single nucleotide variant	NM_007347.5(AP4E1):c.2731A>G (p.Thr911Ala)	Stuttering, familial persistent, 1 [RCV005009722]	uncertain significance	15	50997710	50997710	Human	2	alternate_id
13216819	CV429697	single nucleotide variant	NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)	Stuttering, familial persistent, 1 [RCV002490829]\|not specified [RCV000504235]	uncertain significance	15	50958618	50958618	Human	2	alternate_id
13214803	CV429701	single nucleotide variant	NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)	Hereditary spastic paraplegia 51 [RCV002259968]\|Hereditary spastic paraplegia [RCV001848865]\|Spastic paraplegia [RCV000870590]\|Stuttering, familial persistent, 1 [RCV002259969]\|not specified [RCV000501720]	benign\|likely benign	15	51001047	51001047	Human	6	alternate_id
13480637	CV465261	single nucleotide variant	NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)	Spastic paraplegia [RCV000551067]\|Stuttering, familial persistent, 1 [RCV000763974]	uncertain significance	15	50993428	50993428	Human	4	alternate_id
13532412	CV505319	single nucleotide variant	NM_007347.5(AP4E1):c.2346+10C>T	Hereditary spastic paraplegia 51 [RCV002260023]\|Spastic paraplegia [RCV000861766]\|Stuttering, familial persistent, 1 [RCV002260024]\|not specified [RCV000601350]	benign\|likely benign	15	50993635	50993635	Human	5	alternate_id
13526701	CV505750	single nucleotide variant	NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)	Hereditary spastic paraplegia 51 [RCV002260021]\|Spastic paraplegia [RCV000862297]\|Stuttering, familial persistent, 1 [RCV002260022]\|not specified [RCV000604495]	benign\|likely benign	15	50999246	50999246	Human	5	alternate_id
13704746	CV539061	microsatellite	NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter)	Stuttering, familial persistent, 1 [RCV000661916]	likely pathogenic	15	50993510	50993511	Human		alternate_id
14734814	CV667017	single nucleotide variant	NM_007347.5(AP4E1):c.1066+51T>C	Hereditary spastic paraplegia 51 [RCV002260065]\|Stuttering, familial persistent, 1 [RCV002260066]\|not provided [RCV000837726]	benign	15	50941615	50941615	Human	3	alternate_id
14734469	CV667890	single nucleotide variant	NM_007347.5(AP4E1):c.150+33A>G	Hereditary spastic paraplegia 51 [RCV002260063]\|Stuttering, familial persistent, 1 [RCV002260064]\|not provided [RCV000837570]	benign	15	50908961	50908961	Human	3	alternate_id
14739119	CV667896	single nucleotide variant	NM_007347.5(AP4E1):c.542+11T>G	Hereditary spastic paraplegia 51 [RCV002260067]\|Spastic paraplegia [RCV002068558]\|Stuttering, familial persistent, 1 [RCV002260068]\|Stuttering, familial persistent, 1 [RCV002501168]\|not provided [RCV000839724]	benign\|likely benign	15	50925230	50925230	Human	5	alternate_id
15118429	CV684545	single nucleotide variant	NM_007347.5(AP4E1):c.171G>A (p.Gln57=)	AP4E1-related disorder [RCV003908155]\|Hereditary spastic paraplegia 51 [RCV002260069]\|Hereditary spastic paraplegia [RCV001849140]\|Spastic paraplegia [RCV000861313]\|Stuttering, familial persistent, 1 [RCV002260070]\|not provided [RCV002260673]	benign\|likely benign	15	50912098	50912098	Human	7	alternate_id
38461556	CV919581	single nucleotide variant	NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr)	Spastic paraplegia [RCV002560241]\|Stuttering, familial persistent, 1 [RCV001197749]	uncertain significance	15	50929083	50929083	Human	4	alternate_id
38461559	CV919582	single nucleotide variant	NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly)	Inborn genetic diseases [RCV003346355]\|Spastic paraplegia [RCV001859196]\|Stuttering, familial persistent, 1 [RCV001197750]	uncertain significance	15	50997792	50997792	Human	5	alternate_id
151709779	CV1501966	single nucleotide variant	NM_213622.4(STAMBP):c.203+5G>A	not provided [RCV001907747]	likely pathogenic\|uncertain significance	2	73831064	73831064	Human		name
152092415	CV1567779	single nucleotide variant	NM_213622.4(STAMBP):c.375+9A>G	not provided [RCV002212908]	likely benign	2	73845271	73845271	Human		name
152128662	CV1637339	single nucleotide variant	NM_213622.4(STAMBP):c.867+9A>G	not provided [RCV002217761]	likely benign	2	73849496	73849496	Human		name
156393448	CV2002417	single nucleotide variant	NM_213622.4(STAMBP):c.376-3T>G	not provided [RCV002680996]	uncertain significance	2	73847384	73847384	Human		name
156023884	CV2025581	single nucleotide variant	NM_213622.4(STAMBP):c.204-5C>G	not provided [RCV002735503]	likely benign	2	73844808	73844808	Human		name
156033957	CV2059292	single nucleotide variant	NM_213622.4(STAMBP):c.868-1G>A	not provided [RCV002796171]	likely pathogenic	2	73850375	73850375	Human		name
155947119	CV2068880	single nucleotide variant	NM_213622.4(STAMBP):c.742+9A>G	not provided [RCV002862138]	likely benign	2	73847762	73847762	Human		name
156083961	CV2144703	single nucleotide variant	NM_213622.4(STAMBP):c.743-3C>T	not provided [RCV003020445]	uncertain significance	2	73849360	73849360	Human		name
405143497	CV2946013	single nucleotide variant	NM_213622.4(STAMBP):c.203+8A>T	not provided [RCV003669472]	likely benign	2	73831067	73831067	Human		name
405176034	CV2951898	single nucleotide variant	NM_213622.4(STAMBP):c.375+7A>G	not provided [RCV003675836]	likely benign	2	73845269	73845269	Human		name
597913161	CV3740459	single nucleotide variant	NM_213622.4(STAMBP):c.376-4G>T	not provided [RCV005073796]	likely benign	2	73847383	73847383	Human		name
598121849	CV3883474	single nucleotide variant	NM_213622.4(STAMBP):c.376-1G>A	Microcephaly-capillary malformation syndrome [RCV005235849]	likely pathogenic	2	73847386	73847386	Human	1	name
8611959	CV59803	single nucleotide variant	NM_213622.4(STAMBP):c.279+5G>T	Microcephaly-capillary malformation syndrome [RCV000043575]\|not provided [RCV000522284]	pathogenic\|likely pathogenic	2	73844893	73844893	Human	1	name
15130635	CV743977	single nucleotide variant	NM_213622.4(STAMBP):c.376-4G>A	not provided [RCV000897636]	benign	2	73847383	73847383	Human		name
150406196	CV1176216	single nucleotide variant	NM_213622.4(STAMBP):c.375+77A>G	not provided [RCV001545195]	likely benign	2	73845339	73845339	Human		name
150421477	CV1196971	single nucleotide variant	NM_213622.4(STAMBP):c.279+51G>A	not provided [RCV001578053]	likely benign	2	73844939	73844939	Human		name
150499713	CV1209128	single nucleotide variant	NM_213622.4(STAMBP):c.279+43G>A	not provided [RCV001594346]	likely benign	2	73844931	73844931	Human		name
150482289	CV1262723	duplication	NM_213622.4(STAMBP):c.867+18dup	not provided [RCV001687121]\|not specified [RCV001699832]	benign	2	73849495	73849496	Human		name
150545077	CV1315409	single nucleotide variant	NM_213622.4(STAMBP):c.1119-2A>G	Microcephaly-capillary malformation syndrome [RCV001783825]	likely pathogenic	2	73860050	73860050	Human		name
151813577	CV1382771	single nucleotide variant	NM_213622.4(STAMBP):c.1218+4C>T	not provided [RCV002049090]	uncertain significance	2	73860155	73860155	Human		name
152046329	CV1525828	single nucleotide variant	NM_213622.4(STAMBP):c.867+16A>T	not provided [RCV002126685]	likely benign	2	73849503	73849503	Human		name
152112980	CV1586543	single nucleotide variant	NM_213622.4(STAMBP):c.1119-8A>C	not provided [RCV002197028]	likely benign	2	73860044	73860044	Human		name
152043417	CV1618211	single nucleotide variant	NM_213622.4(STAMBP):c.375+12A>G	not provided [RCV002206644]	likely benign	2	73845274	73845274	Human		name
152145977	CV1649457	single nucleotide variant	NM_213622.4(STAMBP):c.376-13T>C	not provided [RCV002121044]	likely benign	2	73847374	73847374	Human		name
156378155	CV1906832	single nucleotide variant	NM_213622.4(STAMBP):c.1118+9A>C	STAMBP-related disorder [RCV003906503]\|not provided [RCV003093046]	likely benign	2	73859375	73859375	Human	1	name , trait , alternate_id
156259055	CV1957302	single nucleotide variant	NM_213622.4(STAMBP):c.279+18T>C	not provided [RCV002576783]	likely benign	2	73844906	73844906	Human		name
156114141	CV1993802	single nucleotide variant	NM_213622.4(STAMBP):c.1219-7A>G	not provided [RCV002662604]	likely benign	2	73862196	73862196	Human		name
156247364	CV2044788	single nucleotide variant	NM_213622.4(STAMBP):c.867+19C>A	not provided [RCV002805889]	benign	2	73849506	73849506	Human		name
10406489	CV207026	single nucleotide variant	NM_213622.4(STAMBP):c.1119-6T>G	Microcephaly-capillary malformation syndrome [RCV000192826]	likely pathogenic	2	73860046	73860046	Human	1	name
156261225	CV2181740	single nucleotide variant	NM_213622.4(STAMBP):c.1119-5T>G	not provided [RCV003044124]	uncertain significance	2	73860047	73860047	Human		name
404985304	CV2851790	single nucleotide variant	NM_213622.4(STAMBP):c.1006-2A>T	Microcephaly-capillary malformation syndrome [RCV003489477]	likely pathogenic	2	73859252	73859252	Human	1	name
405226666	CV2989778	single nucleotide variant	NM_213622.4(STAMBP):c.203+12A>G	not provided [RCV003681378]	likely benign	2	73831071	73831071	Human		name
405252674	CV3178066	single nucleotide variant	NM_213622.4(STAMBP):c.280-10T>C	not provided [RCV003870846]	likely benign	2	73845157	73845157	Human		name
597942852	CV3786323	single nucleotide variant	NM_213622.4(STAMBP):c.279+20G>C	not provided [RCV005134014]	likely benign	2	73844908	73844908	Human		name
597869040	CV3803427	deletion	NM_213622.4(STAMBP):c.867+18del	not provided [RCV005148024]	benign	2	73849496	73849496	Human		name
150424484	CV1183233	single nucleotide variant	NM_213622.4(STAMBP):c.-12-276C>T	not provided [RCV001556714]	likely benign	2	73830569	73830569	Human		name
150426278	CV1186479	deletion	NM_213622.4(STAMBP):c.376-289del	not provided [RCV001559368]	likely benign	2	73847082	73847082	Human		name
150429315	CV1186480	duplication	NM_213622.4(STAMBP):c.376-289dup	not provided [RCV001563441]	likely benign	2	73847081	73847082	Human		name
150474434	CV1202099	single nucleotide variant	NM_213622.4(STAMBP):c.376-306C>A	not provided [RCV001589342]	likely benign	2	73847081	73847081	Human		name
150516671	CV1227181	single nucleotide variant	NM_213622.4(STAMBP):c.743-221C>T	not provided [RCV001639279]	benign	2	73849142	73849142	Human		name
150486406	CV1234591	single nucleotide variant	NM_213622.4(STAMBP):c.1218+51A>G	not provided [RCV001654014]	benign	2	73860202	73860202	Human		name
150485764	CV1262162	single nucleotide variant	NM_213622.4(STAMBP):c.1218+96G>A	not provided [RCV001686853]	benign	2	73860247	73860247	Human		name
150443567	CV1264615	single nucleotide variant	NM_213622.4(STAMBP):c.867+302A>T	not provided [RCV001679599]	benign	2	73849789	73849789	Human		name
150442990	CV1266323	single nucleotide variant	NM_213622.4(STAMBP):c.1118+57T>G	not provided [RCV001690759]	benign	2	73859423	73859423	Human		name
9683947	CV168077	single nucleotide variant	NM_213622.4(STAMBP):c.1218+12T>C	not provided [RCV001522134]\|not specified [RCV000147670]	benign\|likely benign	2	73860163	73860163	Human		name
9683948	CV168078	single nucleotide variant	NM_213622.4(STAMBP):c.1218+20A>G	not provided [RCV001522439]\|not specified [RCV000147671]	benign\|likely benign	2	73860171	73860171	Human		name
156334220	CV1954320	single nucleotide variant	NM_213622.4(STAMBP):c.1119-18G>A	not provided [RCV002580164]	likely benign	2	73860034	73860034	Human		name
156383767	CV1961062	single nucleotide variant	NM_213622.4(STAMBP):c.1118+19G>A	not provided [RCV002583347]	likely benign	2	73859385	73859385	Human		name
156384086	CV1979761	single nucleotide variant	NM_213622.4(STAMBP):c.1005+17T>A	not provided [RCV002634493]	likely benign	2	73850530	73850530	Human		name
156392535	CV1986418	single nucleotide variant	NM_213622.4(STAMBP):c.1218+15A>G	not provided [RCV002604804]	likely benign	2	73860166	73860166	Human		name
405213250	CV2878825	single nucleotide variant	NM_213622.4(STAMBP):c.1119-17C>G	not provided [RCV003552864]	likely benign	2	73860035	73860035	Human		name
405253958	CV3174908	single nucleotide variant	NM_213622.4(STAMBP):c.1218+10T>C	not provided [RCV003871359]	likely benign	2	73860161	73860161	Human		name
150406262	CV1189943	single nucleotide variant	NM_213622.4(STAMBP):c.1005+590A>G	not provided [RCV001564637]	likely benign	2	73851103	73851103	Human		name
150482627	CV1209998	single nucleotide variant	NM_213622.4(STAMBP):c.1218+127C>G	not provided [RCV001590696]	likely benign	2	73860278	73860278	Human		name
150476798	CV1218534	single nucleotide variant	NM_213622.4(STAMBP):c.1005+488T>A	not provided [RCV001616161]	benign	2	73851001	73851001	Human		name
150469134	CV1219023	single nucleotide variant	NM_213622.4(STAMBP):c.1118+166T>A	not provided [RCV001614775]	benign	2	73859532	73859532	Human		name
150516932	CV1227371	single nucleotide variant	NM_213622.4(STAMBP):c.1005+115C>G	not provided [RCV001639472]	benign	2	73850628	73850628	Human		name
150506931	CV1258090	single nucleotide variant	NM_213622.4(STAMBP):c.1219-302A>G	not provided [RCV001678307]	benign	2	73861901	73861901	Human		name
150486583	CV1262598	single nucleotide variant	NM_213622.4(STAMBP):c.1118+194C>A	not provided [RCV001686995]	benign	2	73859560	73859560	Human		name
150484101	CV1263107	duplication	NM_213622.4(STAMBP):c.1006-329dup	not provided [RCV001686507]	benign	2	73858919	73858920	Human		name
150488306	CV1265226	single nucleotide variant	NM_213622.4(STAMBP):c.1218+227G>A	not provided [RCV001687262]	benign	2	73860378	73860378	Human		name
401912100	CV2811997	single nucleotide variant	NM_213622.4(STAMBP):c.1218+394A>G	not provided [RCV003427023]	likely benign	2	73860545	73860545	Human		name
150477702	CV1252053	duplication	NM_213622.4(STAMBP):c.376-291_376-289dup	not provided [RCV001672253]	benign	2	73847081	73847082	Human		name
150510215	CV1286735	duplication	NM_213622.4(STAMBP):c.376-290_376-289dup	not provided [RCV001720970]	benign	2	73847081	73847082	Human		name
150431043	CV1206218	insertion	NM_213622.4(STAMBP):c.1118+337_1118+338insATA	not provided [RCV001580866]	likely benign	2	73859702	73859703	Human		name
126739235	CV989002	microsatellite	NM_213622.4(STAMBP):c.1119-10_1119-9insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGTATTGATTTT	not provided [RCV001295580]	benign\|uncertain significance	2	73860038	73860039	Human		name
152118191	CV1594871	single nucleotide variant	NM_213622.4(STAMBP):c.72G>A (p.Ala24=)	STAMBP-related disorder [RCV003893166]\|not provided [RCV002197684]	likely benign	2	73830928	73830928	Human	1	name , trait , alternate_id
156363587	CV1900856	single nucleotide variant	NM_213622.4(STAMBP):c.597C>T (p.Asp199=)	STAMBP-related disorder [RCV003963656]\|not provided [RCV002581903]	likely benign	2	73847608	73847608	Human	1	name , trait , alternate_id
12893961	CV406032	single nucleotide variant	NM_213622.4(STAMBP):c.230A>G (p.His77Arg)	STAMBP-related disorder [RCV003392315]\|not provided [RCV000480964]	likely pathogenic	2	73844839	73844839	Human	1	name , trait , alternate_id
15188965	CV719966	single nucleotide variant	NM_213622.4(STAMBP):c.33C>T (p.Pro11=)	Microcephaly-capillary malformation syndrome [RCV001804057]\|STAMBP-related disorder [RCV003955937]\|not provided [RCV000887688]	likely benign	2	73830889	73830889	Human	1	name , trait , alternate_id
15120947	CV733571	single nucleotide variant	NM_213622.4(STAMBP):c.465G>T (p.Gln155His)	STAMBP-related disorder [RCV003958040]\|not provided [RCV000895978]	likely benign	2	73847476	73847476	Human	1	name , trait , alternate_id
9683951	CV168074	single nucleotide variant	NM_213622.4(STAMBP):c.12T>C (p.His4=)	Microcephaly-capillary malformation syndrome [RCV001808411]\|not provided [RCV001517693]\|not specified [RCV000147674]	benign\|likely benign	2	73830868	73830868	Human	2	name
9683951	CV168074	single nucleotide variant	NM_213622.4(STAMBP):c.12T>C (p.His4=)	Microcephaly-capillary malformation syndrome [RCV001808411]\|not provided [RCV001517693]\|not specified [RCV000147674]	benign\|likely benign	2	73830868	73830869	Human	2	name
156187508	CV2302788	single nucleotide variant	NM_005843.6(STAM2):c.23C>T (p.Pro8Leu)	not specified [RCV004162703]	uncertain significance	2	152175620	152175620	Human		name
405722261	CV3323712	single nucleotide variant	NM_005843.6(STAM2):c.20A>G (p.Asn7Ser)	not specified [RCV004463313]	uncertain significance	2	152175623	152175623	Human		name
597746607	CV3618348	single nucleotide variant	NM_005843.6(STAM2):c.27C>G (p.Phe9Leu)	not specified [RCV004865908]	uncertain significance	2	152175616	152175616	Human		name
597746614	CV3618349	single nucleotide variant	NM_005843.6(STAM2):c.27C>A (p.Phe9Leu)	not specified [RCV004865909]	uncertain significance	2	152175616	152175616	Human		name
151726055	CV1365124	single nucleotide variant	NM_213622.4(STAMBP):c.12T>A (p.His4Gln)	not provided [RCV002040690]	uncertain significance	2	73830868	73830868	Human		name
151802460	CV1404970	single nucleotide variant	NM_213622.4(STAMBP):c.14G>A (p.Gly5Glu)	not provided [RCV001932437]	uncertain significance	2	73830870	73830870	Human		name
152129055	CV1583837	single nucleotide variant	NM_213622.4(STAMBP):c.171A>G (p.Glu57=)	not provided [RCV002199077]	likely benign	2	73831027	73831027	Human		name
156376738	CV1930561	single nucleotide variant	NM_213622.4(STAMBP):c.186C>G (p.Leu62=)	not provided [RCV002633899]	likely benign	2	73831042	73831042	Human		name
156350821	CV2018810	single nucleotide variant	NM_213622.4(STAMBP):c.207C>G (p.Leu69=)	not provided [RCV002720168]	likely benign	2	73844816	73844816	Human		name
156245236	CV2173644	single nucleotide variant	NM_213622.4(STAMBP):c.234A>C (p.Arg78=)	not provided [RCV003043590]	likely benign	2	73844843	73844843	Human		name
156357911	CV2318391	single nucleotide variant	NM_005843.6(STAM2):c.56A>G (p.Glu19Gly)	not specified [RCV004179550]	uncertain significance	2	152150214	152150214	Human		name
401770517	CV2685748	single nucleotide variant	NM_005843.6(STAM2):c.705T>C (p.Ser235=)	not specified [RCV004294740]	likely benign	2	152135603	152135603	Human		name
401924601	CV2804991	duplication	NM_213622.4(STAMBP):c.5_6dup (p.Asp3fs)	Microcephaly-capillary malformation syndrome [RCV003404810]	pathogenic	2	73830859	73830860	Human	1	name
405174285	CV3052589	single nucleotide variant	NM_213622.4(STAMBP):c.207C>T (p.Leu69=)	not provided [RCV003728202]	likely benign	2	73844816	73844816	Human		name
15168310	CV719967	single nucleotide variant	NM_213622.4(STAMBP):c.183C>T (p.Ile61=)	not provided [RCV000883037]	likely benign	2	73831039	73831039	Human		name
151874188	CV1356505	single nucleotide variant	NM_213622.4(STAMBP):c.29C>T (p.Pro10Leu)	not provided [RCV001925604]	uncertain significance	2	73830885	73830885	Human		name
151857108	CV1363748	single nucleotide variant	NM_213622.4(STAMBP):c.49G>C (p.Ala17Pro)	not provided [RCV001904821]	uncertain significance	2	73830905	73830905	Human		name
151824028	CV1397836	single nucleotide variant	NM_213622.4(STAMBP):c.87A>C (p.Glu29Asp)	not provided [RCV001976020]	uncertain significance	2	73830943	73830943	Human		name
151743976	CV1427601	single nucleotide variant	NM_213622.4(STAMBP):c.41G>A (p.Arg14Gln)	not provided [RCV001893560]	uncertain significance	2	73830897	73830897	Human		name
151760081	CV1434967	single nucleotide variant	NM_213622.4(STAMBP):c.71C>T (p.Ala24Val)	Inborn genetic diseases [RCV002555761]\|not provided [RCV001913876]	uncertain significance	2	73830927	73830927	Human	1	name
151880634	CV1475467	single nucleotide variant	NM_213622.4(STAMBP):c.59A>G (p.Gln20Arg)	not provided [RCV001961617]	uncertain significance	2	73830915	73830915	Human		name
152056356	CV1588210	single nucleotide variant	NM_213622.4(STAMBP):c.945C>T (p.Asn315=)	not provided [RCV002190012]	likely benign	2	73850453	73850453	Human		name
9683953	CV168076	single nucleotide variant	NM_213622.4(STAMBP):c.921G>T (p.Gly307=)	Microcephaly-capillary malformation syndrome [RCV001808412]\|not provided [RCV001519786]\|not specified [RCV000147676]	benign\|likely benign	2	73850429	73850429	Human	3	name
9683953	CV168076	single nucleotide variant	NM_213622.4(STAMBP):c.921G>T (p.Gly307=)	Microcephaly-capillary malformation syndrome [RCV001808412]\|not provided [RCV001519786]\|not specified [RCV000147676]	benign\|likely benign	2	73850429	73850430	Human	3	name
155737359	CV1774527	single nucleotide variant	NM_213622.4(STAMBP):c.83A>G (p.Asn28Ser)	not provided [RCV002301983]	uncertain significance	2	73830939	73830939	Human		name
156083118	CV1909063	single nucleotide variant	NM_213622.4(STAMBP):c.771G>T (p.Val257=)	not provided [RCV002591646]	likely benign	2	73849391	73849391	Human		name
156403892	CV1989787	single nucleotide variant	NM_213622.4(STAMBP):c.34G>A (p.Glu12Lys)	not provided [RCV002657930]	uncertain significance	2	73830890	73830890	Human		name
155905079	CV2007290	single nucleotide variant	NM_213622.4(STAMBP):c.67A>G (p.Ser23Gly)	not provided [RCV002681345]	uncertain significance	2	73830923	73830923	Human		name
155907854	CV2027737	single nucleotide variant	NM_213622.4(STAMBP):c.795A>G (p.Pro265=)	not provided [RCV002726584]	likely benign	2	73849415	73849415	Human		name
155945265	CV2039570	single nucleotide variant	NM_213622.4(STAMBP):c.768T>C (p.His256=)	not provided [RCV002775441]	likely benign	2	73849388	73849388	Human		name
156207243	CV2042310	single nucleotide variant	NM_213622.4(STAMBP):c.981C>T (p.Gly327=)	not provided [RCV002766465]	likely benign	2	73850489	73850489	Human		name
156262029	CV2057209	single nucleotide variant	NM_213622.4(STAMBP):c.522A>G (p.Leu174=)	not provided [RCV002792049]	likely benign	2	73847533	73847533	Human		name
156300696	CV2083313	single nucleotide variant	NM_213622.4(STAMBP):c.321G>A (p.Lys107=)	not provided [RCV002857155]	likely benign	2	73845208	73845208	Human		name
156141336	CV2125803	single nucleotide variant	NM_213622.4(STAMBP):c.804C>T (p.Leu268=)	not provided [RCV002954244]	benign	2	73849424	73849424	Human		name
156087984	CV2180743	single nucleotide variant	NM_213622.4(STAMBP):c.666C>T (p.His222=)	not provided [RCV003054258]	likely benign	2	73847677	73847677	Human		name
156375051	CV2204993	single nucleotide variant	NM_005843.6(STAM2):c.205C>A (p.Leu69Ile)	not specified [RCV004077611]	uncertain significance	2	152148119	152148119	Human		name
155922180	CV2218763	single nucleotide variant	NM_020799.4(STAMBPL1):c.9G>T (p.Gln3His)	not specified [RCV004085016]	uncertain significance	10	88901717	88901717	Human		name
155997010	CV2393262	single nucleotide variant	NM_005843.6(STAM2):c.185C>T (p.Ala62Val)	not specified [RCV004228777]	uncertain significance	2	152148241	152148241	Human		name
329360833	CV2463029	single nucleotide variant	NM_005843.6(STAM2):c.128C>T (p.Ala43Val)	not specified [RCV004272848]	uncertain significance	2	152148298	152148298	Human		name
401799145	CV2741722	single nucleotide variant	NM_213622.4(STAMBP):c.32C>T (p.Pro11Leu)	not provided [RCV003323130]	uncertain significance	2	73830888	73830888	Human		name
401912099	CV2811996	single nucleotide variant	NM_213622.4(STAMBP):c.348A>G (p.Lys116=)	not provided [RCV003427022]	likely benign	2	73845235	73845235	Human		name
405243102	CV2974867	single nucleotide variant	NM_213622.4(STAMBP):c.690A>G (p.Pro230=)	not provided [RCV003684508]	likely benign	2	73847701	73847701	Human		name
405205266	CV3068120	single nucleotide variant	NM_213622.4(STAMBP):c.318G>C (p.Leu106=)	not provided [RCV003731253]	likely benign	2	73845205	73845205	Human		name
405044165	CV3074315	single nucleotide variant	NM_213622.4(STAMBP):c.963C>T (p.Leu321=)	not provided [RCV003740140]	likely benign	2	73850471	73850471	Human		name
402472168	CV3171719	single nucleotide variant	NM_213622.4(STAMBP):c.735A>G (p.Ser245=)	not provided [RCV003874503]	likely benign	2	73847746	73847746	Human		name
405722269	CV3323713	single nucleotide variant	NM_005843.6(STAM2):c.259C>T (p.Arg87Cys)	not specified [RCV004463314]	uncertain significance	2	152148065	152148065	Human		name
405722277	CV3323714	single nucleotide variant	NM_005843.6(STAM2):c.260G>A (p.Arg87His)	not specified [RCV004463315]	uncertain significance	2	152148064	152148064	Human		name
597682588	CV3618347	single nucleotide variant	NM_005843.6(STAM2):c.127G>A (p.Ala43Thr)	not specified [RCV004857662]	uncertain significance	2	152148299	152148299	Human		name
597897305	CV3744602	single nucleotide variant	NM_213622.4(STAMBP):c.996C>G (p.Gly332=)	not provided [RCV005071881]	likely benign	2	73850504	73850504	Human		name
597841184	CV3752762	single nucleotide variant	NM_213622.4(STAMBP):c.400C>A (p.Arg134=)	not provided [RCV005086491]	likely benign	2	73847411	73847411	Human		name
597949817	CV3772332	single nucleotide variant	NM_213622.4(STAMBP):c.327G>A (p.Glu109=)	not provided [RCV005120651]	likely benign	2	73845214	73845214	Human		name
598250162	CV3919368	single nucleotide variant	NM_005843.6(STAM2):c.146C>T (p.Ala49Val)	not specified [RCV005277679]	uncertain significance	2	152148280	152148280	Human		name
15151246	CV733572	single nucleotide variant	NM_213622.4(STAMBP):c.891C>T (p.Thr297=)	not provided [RCV000901324]\|not specified [RCV003396537]	likely benign	2	73850399	73850399	Human		name
126744185	CV1019690	single nucleotide variant	NM_213622.4(STAMBP):c.218A>G (p.Lys73Arg)	Microcephaly-capillary malformation syndrome [RCV001336967]\|not provided [RCV002546802]	likely benign\|uncertain significance	2	73844827	73844827	Human	1	name
150529133	CV1288676	single nucleotide variant	NM_213622.4(STAMBP):c.188A>G (p.Tyr63Cys)	Microcephaly-capillary malformation syndrome [RCV004762171]\|not provided [RCV001727144]	likely pathogenic\|uncertain significance	2	73831044	73831044	Human	1	name
151349565	CV1324414	single nucleotide variant	NM_213622.4(STAMBP):c.112C>G (p.Arg38Gly)	Microcephaly-capillary malformation syndrome [RCV001808859]\|not provided [RCV002074227]	uncertain significance	2	73830968	73830968	Human	1	name
151733384	CV1355715	single nucleotide variant	NM_213622.4(STAMBP):c.197A>T (p.Tyr66Phe)	Inborn genetic diseases [RCV004970729]\|not provided [RCV001984435]	uncertain significance	2	73831053	73831053	Human	1	name
151765195	CV1407762	single nucleotide variant	NM_213622.4(STAMBP):c.100C>T (p.Arg34Cys)	not provided [RCV002044708]	uncertain significance	2	73830956	73830956	Human		name
9683949	CV168079	single nucleotide variant	NM_213622.4(STAMBP):c.1230C>T (p.His410=)	Microcephaly-capillary malformation syndrome [RCV000147672]	uncertain significance	2	73862214	73862214	Human	1	name
156358064	CV1897703	single nucleotide variant	NM_213622.4(STAMBP):c.257C>T (p.Pro86Leu)	Inborn genetic diseases [RCV004073430]\|not provided [RCV002602306]	uncertain significance	2	73844866	73844866	Human	1	name
156313729	CV1910062	single nucleotide variant	NM_213622.4(STAMBP):c.212T>C (p.Ile71Thr)	not provided [RCV002599810]	uncertain significance	2	73844821	73844821	Human		name
156116891	CV1972867	single nucleotide variant	NM_213622.4(STAMBP):c.1023C>T (p.Thr341=)	not provided [RCV002592982]	likely benign	2	73859271	73859271	Human		name
156027629	CV2088500	duplication	NM_213622.4(STAMBP):c.487dup (p.His163fs)	not provided [RCV002866911]	pathogenic	2	73847496	73847497	Human		name
156142396	CV2125932	single nucleotide variant	NM_213622.4(STAMBP):c.1254G>A (p.Val418=)	not provided [RCV002954277]	likely benign	2	73862238	73862238	Human		name
156326226	CV2184360	single nucleotide variant	NM_213622.4(STAMBP):c.243A>C (p.Lys81Asn)	not provided [RCV003046950]	uncertain significance	2	73844852	73844852	Human		name
156331052	CV2210754	single nucleotide variant	NM_005843.6(STAM2):c.624A>T (p.Arg208Ser)	not specified [RCV004085850]	uncertain significance	2	152143907	152143907	Human		name
155932692	CV2228711	single nucleotide variant	NM_005843.6(STAM2):c.577C>G (p.Pro193Ala)	not specified [RCV004093191]	uncertain significance	2	152143954	152143954	Human		name
155918562	CV2236860	single nucleotide variant	NM_005843.6(STAM2):c.988G>A (p.Gly330Ser)	not specified [RCV004112617]	uncertain significance	2	152132151	152132151	Human		name
155907409	CV2276383	single nucleotide variant	NM_005843.6(STAM2):c.953A>G (p.Asp318Gly)	not specified [RCV004144118]	uncertain significance	2	152133190	152133190	Human		name
156304035	CV2308540	single nucleotide variant	NM_005843.6(STAM2):c.840G>T (p.Glu280Asp)	not specified [RCV004166817]	uncertain significance	2	152133444	152133444	Human		name
156339590	CV2367612	single nucleotide variant	NM_005843.6(STAM2):c.713A>G (p.Asn238Ser)	not specified [RCV004211538]	uncertain significance	2	152135595	152135595	Human		name
329391530	CV2452889	single nucleotide variant	NM_213622.4(STAMBP):c.190A>G (p.Asn64Asp)	Inborn genetic diseases [RCV003217324]	uncertain significance	2	73831046	73831046	Human	1	name
401752418	CV2682813	single nucleotide variant	NM_005843.6(STAM2):c.758C>T (p.Ser253Phe)	not specified [RCV004281784]	uncertain significance	2	152135550	152135550	Human		name
401883574	CV2754471	single nucleotide variant	NM_213622.4(STAMBP):c.256C>A (p.Pro86Thr)	Inborn genetic diseases [RCV003350972]	uncertain significance	2	73844865	73844865	Human	1	name
401897287	CV2789985	single nucleotide variant	NM_005843.6(STAM2):c.511G>T (p.Ala171Ser)	not specified [RCV004363947]	uncertain significance	2	152144894	152144894	Human		name
404994649	CV2851197	single nucleotide variant	NM_213622.4(STAMBP):c.1011C>T (p.His337=)	Microcephaly-capillary malformation syndrome [RCV003491620]	uncertain significance	2	73859259	73859259	Human	1	name
405170056	CV3149975	single nucleotide variant	NM_213622.4(STAMBP):c.1041C>T (p.Val347=)	not provided [RCV003841446]	likely benign	2	73859289	73859289	Human		name
405691748	CV3227529	single nucleotide variant	NM_213622.4(STAMBP):c.113G>A (p.Arg38His)	Microcephaly-capillary malformation syndrome [RCV003991874]\|not provided [RCV004723564]	uncertain significance	2	73830969	73830969	Human	1	name
405722930	CV3323715	single nucleotide variant	NM_005843.6(STAM2):c.302C>T (p.Ala101Val)	not specified [RCV004463316]	uncertain significance	2	152147307	152147307	Human		name
405722293	CV3323716	single nucleotide variant	NM_005843.6(STAM2):c.800C>T (p.Ala267Val)	not specified [RCV004463317]	uncertain significance	2	152133484	152133484	Human		name
405722301	CV3323717	single nucleotide variant	NM_005843.6(STAM2):c.946T>C (p.Ser316Pro)	not specified [RCV004463318]	uncertain significance	2	152133197	152133197	Human		name
407495664	CV3485275	single nucleotide variant	NM_005843.6(STAM2):c.772A>G (p.Thr258Ala)	not specified [RCV004667934]	uncertain significance	2	152135536	152135536	Human		name
407530074	CV3485276	single nucleotide variant	NM_005843.6(STAM2):c.613C>T (p.Arg205Trp)	not specified [RCV004681615]	uncertain significance	2	152143918	152143918	Human		name
407530075	CV3485278	single nucleotide variant	NM_005843.6(STAM2):c.437C>T (p.Ala146Val)	not specified [RCV004681616]	uncertain significance	2	152147172	152147172	Human		name
407495679	CV3485282	single nucleotide variant	NM_213622.4(STAMBP):c.104G>A (p.Arg35Gln)	Inborn genetic diseases [RCV004667938]	uncertain significance	2	73830960	73830960	Human	1	name
597682580	CV3618345	single nucleotide variant	NM_005843.6(STAM2):c.926C>T (p.Pro309Leu)	not specified [RCV004857661]	uncertain significance	2	152133217	152133217	Human		name
597746602	CV3618346	single nucleotide variant	NM_005843.6(STAM2):c.655A>G (p.Asn219Asp)	not specified [RCV004865907]	uncertain significance	2	152143876	152143876	Human		name
597633239	CV3618352	single nucleotide variant	NM_213622.4(STAMBP):c.101G>A (p.Arg34His)	Inborn genetic diseases [RCV004969049]	uncertain significance	2	73830957	73830957	Human	1	name
597836098	CV3828360	single nucleotide variant	NM_213622.4(STAMBP):c.1104C>T (p.Ser368=)	not provided [RCV005171252]	likely benign	2	73859352	73859352	Human		name
598250193	CV3919373	single nucleotide variant	NM_213622.4(STAMBP):c.119G>T (p.Gly40Val)	Inborn genetic diseases [RCV005277683]	uncertain significance	2	73830975	73830975	Human	1	name
8611956	CV59800	single nucleotide variant	NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)	Microcephaly-capillary malformation syndrome [RCV000043572]\|not provided [RCV004719680]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	73830981	73830981	Human	1	name
8611958	CV59802	single nucleotide variant	NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	Microcephaly-capillary malformation syndrome [RCV000043574]\|not provided [RCV000426675]	pathogenic\|likely pathogenic	2	73830968	73830968	Human	1	name
8572443	CV59806	deletion	NM_213622.4(STAMBP):c.411del (p.Ile138fs)	Microcephaly-capillary malformation syndrome [RCV000043578]	pathogenic	2	73847421	73847421	Human	1	name
15161195	CV747773	single nucleotide variant	NM_213622.4(STAMBP):c.1005T>C (p.His335=)	not provided [RCV000925636]	likely benign	2	73850513	73850513	Human		name
25318568	CV805321	single nucleotide variant	NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)	not provided [RCV001008704]	likely pathogenic	2	73844841	73844841	Human		name
126744190	CV1019691	single nucleotide variant	NM_213622.4(STAMBP):c.475C>G (p.Gln159Glu)	Microcephaly-capillary malformation syndrome [RCV001336968]	uncertain significance	2	73847486	73847486	Human	1	name
151355988	CV1328752	single nucleotide variant	NM_213622.4(STAMBP):c.414C>G (p.Ile138Met)	Inborn genetic diseases [RCV003346700]\|not specified [RCV001822341]	uncertain significance	2	73847425	73847425	Human	1	name
151716337	CV1349799	single nucleotide variant	NM_213622.4(STAMBP):c.400C>T (p.Arg134Trp)	Inborn genetic diseases [RCV003247204]\|not provided [RCV001965283]	uncertain significance	2	73847411	73847411	Human	1	name
151718988	CV1373604	single nucleotide variant	NM_213622.4(STAMBP):c.899T>C (p.Leu300Pro)	not provided [RCV001890785]	uncertain significance	2	73850407	73850407	Human		name
151750593	CV1381138	single nucleotide variant	NM_213622.4(STAMBP):c.457A>G (p.Lys153Glu)	not provided [RCV002023335]	uncertain significance	2	73847468	73847468	Human		name
151777395	CV1411716	deletion	NM_213622.4(STAMBP):c.1214del (p.Phe405fs)	not provided [RCV001930108]	pathogenic	2	73860146	73860146	Human		name
151868712	CV1426158	single nucleotide variant	NM_213622.4(STAMBP):c.337C>T (p.Arg113Ter)	not provided [RCV002035381]	pathogenic	2	73845224	73845224	Human		name
151745217	CV1485033	single nucleotide variant	NM_213622.4(STAMBP):c.509G>A (p.Arg170Gln)	not provided [RCV002006234]	uncertain significance	2	73847520	73847520	Human		name
9683952	CV168075	single nucleotide variant	NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys)	Microcephaly-capillary malformation syndrome [RCV000147675]\|not provided [RCV000901879]	likely benign\|uncertain significance	2	73847510	73847510	Human	1	name
155716038	CV1780449	single nucleotide variant	NM_213622.4(STAMBP):c.348A>C (p.Lys116Asn)	Inborn genetic diseases [RCV004681482]\|not provided [RCV002306054]	uncertain significance	2	73845235	73845235	Human	1	name
156006447	CV1902728	single nucleotide variant	NM_213622.4(STAMBP):c.401G>A (p.Arg134Gln)	not provided [RCV003099053]	uncertain significance	2	73847412	73847412	Human		name
156093508	CV1909930	single nucleotide variant	NM_213622.4(STAMBP):c.945C>G (p.Asn315Lys)	not provided [RCV002591998]	uncertain significance	2	73850453	73850453	Human		name
156025296	CV1918618	single nucleotide variant	NM_213622.4(STAMBP):c.406A>G (p.Met136Val)	Inborn genetic diseases [RCV002611881]\|not provided [RCV002636912]	likely benign\|uncertain significance	2	73847417	73847417	Human	1	name
156330006	CV1954023	single nucleotide variant	NM_213622.4(STAMBP):c.557G>A (p.Gly186Glu)	Inborn genetic diseases [RCV004965911]\|not provided [RCV002579944]	uncertain significance	2	73847568	73847568	Human	1	name
156229733	CV1959098	single nucleotide variant	NM_213622.4(STAMBP):c.829C>T (p.Arg277Trp)	not provided [RCV002596763]	uncertain significance	2	73849449	73849449	Human		name
156201158	CV1978246	single nucleotide variant	NM_213622.4(STAMBP):c.508C>T (p.Arg170Trp)	Inborn genetic diseases [RCV004065697]\|not provided [RCV002625731]	uncertain significance	2	73847519	73847519	Human	1	name
156185839	CV2033843	single nucleotide variant	NM_213622.4(STAMBP):c.487C>T (p.His163Tyr)	not provided [RCV002765757]	uncertain significance	2	73847498	73847498	Human		name
156005275	CV2064762	single nucleotide variant	NM_213622.4(STAMBP):c.653C>G (p.Pro218Arg)	not provided [RCV002843598]	uncertain significance	2	73847664	73847664	Human		name
10404375	CV207025	single nucleotide variant	NM_213622.4(STAMBP):c.997T>G (p.Trp333Gly)	not specified [RCV000194917]	uncertain significance	2	73850505	73850505	Human		name
156114799	CV2093122	single nucleotide variant	NM_213622.4(STAMBP):c.424C>G (p.Leu142Val)	not provided [RCV002913924]	uncertain significance	2	73847435	73847435	Human		name
156018247	CV2120694	single nucleotide variant	NM_213622.4(STAMBP):c.814A>G (p.Ser272Gly)	not provided [RCV002976017]	uncertain significance	2	73849434	73849434	Human		name
156356592	CV2126102	single nucleotide variant	NM_213622.4(STAMBP):c.443G>A (p.Arg148Lys)	Inborn genetic diseases [RCV004966233]\|not provided [RCV002966706]	uncertain significance	2	73847454	73847454	Human	1	name
156074459	CV2230064	single nucleotide variant	NM_005843.6(STAM2):c.1426G>T (p.Ala476Ser)	not specified [RCV004105856]	uncertain significance	2	152120726	152120726	Human		name
156158607	CV2236115	single nucleotide variant	NM_020799.4(STAMBPL1):c.68C>T (p.Ser23Phe)	not specified [RCV004114262]	uncertain significance	10	88905480	88905480	Human		name
156244119	CV2243040	single nucleotide variant	NM_005843.6(STAM2):c.1453G>A (p.Val485Met)	not specified [RCV004109959]	uncertain significance	2	152120699	152120699	Human		name
156036859	CV2250036	single nucleotide variant	NM_005843.6(STAM2):c.1382A>G (p.Tyr461Cys)	not specified [RCV004116866]	uncertain significance	2	152120770	152120770	Human		name
156254933	CV2280933	single nucleotide variant	NM_213622.4(STAMBP):c.702C>G (p.Asp234Glu)	Inborn genetic diseases [RCV002855063]	uncertain significance	2	73847713	73847713	Human	1	name
156055159	CV2326562	single nucleotide variant	NM_005843.6(STAM2):c.1461G>A (p.Met487Ile)	not specified [RCV004183107]	uncertain significance	2	152120691	152120691	Human		name
156071146	CV2328479	single nucleotide variant	NM_213622.4(STAMBP):c.409G>A (p.Ala137Thr)	Inborn genetic diseases [RCV002912355]	uncertain significance	2	73847420	73847420	Human	1	name
156044297	CV2340095	single nucleotide variant	NM_213622.4(STAMBP):c.301C>T (p.Pro101Ser)	Inborn genetic diseases [RCV002977414]	uncertain significance	2	73845188	73845188	Human	1	name
156049883	CV2378342	single nucleotide variant	NM_005843.6(STAM2):c.1378A>G (p.Thr460Ala)	not specified [RCV004226368]	uncertain significance	2	152120774	152120774	Human		name
401772485	CV2687707	single nucleotide variant	NM_213622.4(STAMBP):c.470T>G (p.Leu157Trp)	Inborn genetic diseases [RCV003285061]	uncertain significance	2	73847481	73847481	Human	1	name
401731755	CV2693969	single nucleotide variant	NM_005843.6(STAM2):c.1543C>G (p.Gln515Glu)	not specified [RCV004300261]	uncertain significance	2	152120609	152120609	Human		name
401722682	CV2703461	single nucleotide variant	NM_213622.4(STAMBP):c.673G>T (p.Val225Leu)	Inborn genetic diseases [RCV003268097]	uncertain significance	2	73847684	73847684	Human	1	name
401779321	CV2718492	single nucleotide variant	NM_213622.4(STAMBP):c.658G>A (p.Asp220Asn)	Inborn genetic diseases [RCV003287525]	uncertain significance	2	73847669	73847669	Human	1	name
401734021	CV2736930	single nucleotide variant	NM_213622.4(STAMBP):c.692C>G (p.Pro231Arg)	not provided [RCV003313693]	uncertain significance	2	73847703	73847703	Human		name
401877275	CV2790111	single nucleotide variant	NM_005843.6(STAM2):c.1019T>C (p.Ile340Thr)	not specified [RCV004364053]	uncertain significance	2	152132120	152132120	Human		name
401917147	CV2819114	single nucleotide variant	NM_005843.6(STAM2):c.1174A>G (p.Met392Val)	not provided [RCV003429304]	likely benign	2	152126231	152126231	Human		name
401940436	CV2839277	single nucleotide variant	NM_213622.4(STAMBP):c.824C>G (p.Thr275Ser)	Microcephaly-capillary malformation syndrome [RCV003448835]	uncertain significance	2	73849444	73849444	Human	1	name
404995927	CV2851198	single nucleotide variant	NM_213622.4(STAMBP):c.767A>T (p.His256Leu)	Microcephaly-capillary malformation syndrome [RCV003491621]	uncertain significance	2	73849387	73849387	Human	1	name
405069268	CV3030936	single nucleotide variant	NM_213622.4(STAMBP):c.398C>T (p.Ala133Val)	Inborn genetic diseases [RCV004371912]\|not provided [RCV003698138]	uncertain significance	2	73847409	73847409	Human	1	name
405722250	CV3323710	single nucleotide variant	NM_005843.6(STAM2):c.1445G>A (p.Gly482Glu)	not specified [RCV004463311]	uncertain significance	2	152120707	152120707	Human		name
405722254	CV3323711	single nucleotide variant	NM_005843.6(STAM2):c.1562A>C (p.Gln521Pro)	not specified [RCV004463312]	uncertain significance	2	152120590	152120590	Human		name
405722308	CV3323718	single nucleotide variant	NM_213622.4(STAMBP):c.362A>G (p.Tyr121Cys)	Inborn genetic diseases [RCV004463319]	uncertain significance	2	73845249	73845249	Human	1	name
405722316	CV3323719	single nucleotide variant	NM_213622.4(STAMBP):c.583C>T (p.Pro195Ser)	Inborn genetic diseases [RCV004463320]	uncertain significance	2	73847594	73847594	Human	1	name
405722324	CV3323720	single nucleotide variant	NM_213622.4(STAMBP):c.584C>T (p.Pro195Leu)	Inborn genetic diseases [RCV004463321]	uncertain significance	2	73847595	73847595	Human	1	name
405722330	CV3323721	single nucleotide variant	NM_213622.4(STAMBP):c.670A>G (p.Thr224Ala)	Inborn genetic diseases [RCV004463322]	likely benign	2	73847681	73847681	Human	1	name
405722344	CV3323723	single nucleotide variant	NM_213622.4(STAMBP):c.763C>T (p.Arg255Cys)	Inborn genetic diseases [RCV004463324]	uncertain significance	2	73849383	73849383	Human	1	name
405722350	CV3323724	single nucleotide variant	NM_213622.4(STAMBP):c.830G>A (p.Arg277Gln)	Inborn genetic diseases [RCV004463325]	uncertain significance	2	73849450	73849450	Human	1	name
405722356	CV3323725	single nucleotide variant	NM_213622.4(STAMBP):c.942G>T (p.Glu314Asp)	Inborn genetic diseases [RCV004463326]	uncertain significance	2	73850450	73850450	Human	1	name
407495668	CV3485277	single nucleotide variant	NM_005843.6(STAM2):c.1199A>G (p.His400Arg)	not specified [RCV004667935]	uncertain significance	2	152123916	152123916	Human		name
407495673	CV3485279	single nucleotide variant	NM_213622.4(STAMBP):c.784C>T (p.Arg262Trp)	Inborn genetic diseases [RCV004667936]	uncertain significance	2	73849404	73849404	Human	1	name
407530076	CV3485281	single nucleotide variant	NM_213622.4(STAMBP):c.833G>T (p.Gly278Val)	Inborn genetic diseases [RCV004681617]	uncertain significance	2	73849453	73849453	Human	1	name
597746596	CV3618344	single nucleotide variant	NM_005843.6(STAM2):c.1105C>T (p.Pro369Ser)	not specified [RCV004865906]	uncertain significance	2	152126300	152126300	Human		name
597633232	CV3618350	single nucleotide variant	NM_213622.4(STAMBP):c.371A>G (p.Glu124Gly)	Inborn genetic diseases [RCV004969047]	uncertain significance	2	73845258	73845258	Human	1	name
597633235	CV3618351	single nucleotide variant	NM_213622.4(STAMBP):c.892C>A (p.His298Asn)	Inborn genetic diseases [RCV004969048]	uncertain significance	2	73850400	73850400	Human	1	name
597714170	CV3733087	single nucleotide variant	NM_213622.4(STAMBP):c.640T>C (p.Ser214Pro)	Microcephaly-capillary malformation syndrome [RCV005052276]	uncertain significance	2	73847651	73847651	Human	1	name
598128692	CV3887900	single nucleotide variant	NM_020799.4(STAMBPL1):c.540C>T (p.Phe180=)	not provided [RCV005244074]	likely benign	10	88913220	88913220	Human		name
598250169	CV3919369	single nucleotide variant	NM_005843.6(STAM2):c.1343A>G (p.Tyr448Cys)	not specified [RCV005277680]	uncertain significance	2	152123772	152123772	Human		name
598213906	CV3919371	single nucleotide variant	NM_005843.6(STAM2):c.1375C>T (p.Pro459Ser)	not specified [RCV005271085]	uncertain significance	2	152120777	152120777	Human		name
598250184	CV3919372	single nucleotide variant	NM_005843.6(STAM2):c.1274T>C (p.Ile425Thr)	not specified [RCV005277682]	uncertain significance	2	152123841	152123841	Human		name
598250200	CV3919374	single nucleotide variant	NM_213622.4(STAMBP):c.374A>C (p.Lys125Thr)	Inborn genetic diseases [RCV005277684]	uncertain significance	2	73845261	73845261	Human	1	name
12893637	CV406033	single nucleotide variant	NM_213622.4(STAMBP):c.932G>T (p.Cys311Phe)	not provided [RCV000479666]	likely pathogenic	2	73850440	73850440	Human		name
12895674	CV406034	single nucleotide variant	NM_213622.4(STAMBP):c.938C>T (p.Thr313Ile)	not provided [RCV000487330]	pathogenic	2	73850446	73850446	Human		name
12906066	CV413538	single nucleotide variant	NM_213622.4(STAMBP):c.362A>T (p.Tyr121Phe)	not provided [RCV000488376]	uncertain significance	2	73845249	73845249	Human		name
13216374	CV428099	single nucleotide variant	NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter)	Microcephaly-capillary malformation syndrome [RCV000503679]	pathogenic	2	73847660	73847660	Human	1	name
13212989	CV428100	single nucleotide variant	NM_213622.4(STAMBP):c.764G>A (p.Arg255His)	Microcephaly-capillary malformation syndrome [RCV001803786]\|not provided [RCV000893127]\|not specified [RCV000499427]	benign\|likely benign\|uncertain significance	2	73849384	73849384	Human	1	name
13674137	CV485890	single nucleotide variant	NM_213622.4(STAMBP):c.707C>T (p.Ser236Phe)	Microcephaly-capillary malformation syndrome [RCV000656661]	pathogenic	2	73847718	73847718	Human	1	name
8611957	CV59801	single nucleotide variant	NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)	Microcephaly-capillary malformation syndrome [RCV000043573]\|not provided [RCV002305442]	pathogenic\|likely pathogenic	2	73847543	73847543	Human	1	name
8611961	CV59805	single nucleotide variant	NM_213622.4(STAMBP):c.299T>A (p.Phe100Tyr)	Microcephaly-capillary malformation syndrome [RCV000043577]	pathogenic	2	73845186	73845186	Human	1	name
15183597	CV708360	single nucleotide variant	NM_213622.4(STAMBP):c.785G>A (p.Arg262Gln)	not provided [RCV000974913]	likely benign	2	73849405	73849405	Human		name
21404421	CV801983	single nucleotide variant	NM_213622.4(STAMBP):c.946G>A (p.Glu316Lys)	Microcephaly-capillary malformation syndrome [RCV001004761]	uncertain significance	2	73850454	73850454	Human	1	name
26915028	CV827028	single nucleotide variant	NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter)	not provided [RCV001038428]	pathogenic\|likely pathogenic	2	73847429	73847429	Human		name
151353618	CV1327170	single nucleotide variant	NM_213622.4(STAMBP):c.1181G>C (p.Gly394Ala)	not provided [RCV002542512]\|not specified [RCV001817113]	uncertain significance	2	73860114	73860114	Human		name
151771620	CV1451756	single nucleotide variant	NM_213622.4(STAMBP):c.1110G>C (p.Lys370Asn)	Inborn genetic diseases [RCV002579549]\|not provided [RCV001988293]	uncertain significance	2	73859358	73859358	Human	1	name
151724992	CV1462017	single nucleotide variant	NM_213622.4(STAMBP):c.1052C>G (p.Thr351Ser)	not provided [RCV001966474]	uncertain significance	2	73859300	73859300	Human		name
151827248	CV1465241	single nucleotide variant	NM_213622.4(STAMBP):c.1110G>T (p.Lys370Asn)	not provided [RCV002013961]	uncertain significance	2	73859358	73859358	Human		name
151787599	CV1479116	single nucleotide variant	NM_213622.4(STAMBP):c.1172G>A (p.Arg391His)	not provided [RCV002046781]	uncertain significance	2	73860105	73860105	Human		name
151879667	CV1490904	single nucleotide variant	NM_213622.4(STAMBP):c.1145A>G (p.His382Arg)	not provided [RCV001940833]	likely benign\|uncertain significance	2	73860078	73860078	Human		name
155722016	CV1773516	single nucleotide variant	NM_213622.4(STAMBP):c.1207C>T (p.Pro403Ser)	not provided [RCV002301331]	uncertain significance	2	73860140	73860140	Human		name
156293692	CV1958641	single nucleotide variant	NM_213622.4(STAMBP):c.1057T>C (p.Cys353Arg)	not provided [RCV002577932]	uncertain significance	2	73859305	73859305	Human		name
156269136	CV2004009	single nucleotide variant	NM_213622.4(STAMBP):c.1231G>A (p.Val411Met)	not provided [RCV002646473]	uncertain significance	2	73862215	73862215	Human		name
10403975	CV207027	single nucleotide variant	NM_213622.4(STAMBP):c.1172G>C (p.Arg391Pro)	not specified [RCV000193879]	uncertain significance	2	73860105	73860105	Human		name
156388096	CV2122179	single nucleotide variant	NM_213622.4(STAMBP):c.1105C>T (p.Pro369Ser)	not provided [RCV002943645]	uncertain significance	2	73859353	73859353	Human		name
156012258	CV2122980	single nucleotide variant	NM_213622.4(STAMBP):c.1180G>A (p.Gly394Arg)	not provided [RCV002975710]	uncertain significance	2	73860113	73860113	Human		name
156230154	CV2164978	single nucleotide variant	NM_213622.4(STAMBP):c.1124G>T (p.Gly375Val)	not provided [RCV003043055]	uncertain significance	2	73860057	73860057	Human		name
156264559	CV2312100	single nucleotide variant	NM_213622.4(STAMBP):c.1271G>C (p.Arg424Pro)	Inborn genetic diseases [RCV002920715]	uncertain significance	2	73862255	73862255	Human	1	name
329378930	CV2460047	single nucleotide variant	NM_213622.4(STAMBP):c.1241T>C (p.Val414Ala)	Inborn genetic diseases [RCV003212312]	uncertain significance	2	73862225	73862225	Human	1	name
405722383	CV3323728	single nucleotide variant	NM_020799.4(STAMBPL1):c.278G>A (p.Arg93Gln)	not specified [RCV004463329]	uncertain significance	10	88908731	88908731	Human		name
407495677	CV3485280	single nucleotide variant	NM_213622.4(STAMBP):c.1121C>G (p.Thr374Ser)	Inborn genetic diseases [RCV004667937]	uncertain significance	2	73860054	73860054	Human	1	name
597746619	CV3618356	single nucleotide variant	NM_020799.4(STAMBPL1):c.220G>T (p.Ala74Ser)	not specified [RCV004865910]	uncertain significance	10	88905632	88905632	Human		name
598250203	CV3919375	single nucleotide variant	NM_213622.4(STAMBP):c.1202A>T (p.Asp401Val)	Inborn genetic diseases [RCV005277685]	uncertain significance	2	73860135	73860135	Human	1	name
8611960	CV59804	single nucleotide variant	NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)	Microcephaly-capillary malformation syndrome [RCV000043576]\|not provided [RCV000725319]	pathogenic\|likely pathogenic	2	73862254	73862254	Human	1	name
156124268	CV2227327	single nucleotide variant	NM_020799.4(STAMBPL1):c.904A>T (p.Thr302Ser)	not specified [RCV004091866]	uncertain significance	10	88916680	88916680	Human		name
156163258	CV2246626	single nucleotide variant	NM_020799.4(STAMBPL1):c.428A>G (p.Tyr143Cys)	not specified [RCV004110368]	uncertain significance	10	88913108	88913108	Human		name
155998542	CV2260988	single nucleotide variant	NM_020799.4(STAMBPL1):c.668T>C (p.Leu223Pro)	not specified [RCV004125866]	uncertain significance	10	88913348	88913348	Human		name
156037090	CV2313416	single nucleotide variant	NM_020799.4(STAMBPL1):c.502C>T (p.Arg168Cys)	not specified [RCV004163737]	uncertain significance	10	88913182	88913182	Human		name
156279057	CV2316728	single nucleotide variant	NM_020799.4(STAMBPL1):c.332A>C (p.Lys111Thr)	not specified [RCV004171951]	uncertain significance	10	88910923	88910923	Human		name
155932695	CV2400074	single nucleotide variant	NM_020799.4(STAMBPL1):c.671A>G (p.Asn224Ser)	not specified [RCV004246988]	uncertain significance	10	88913351	88913351	Human		name
329365597	CV2440918	single nucleotide variant	NM_020799.4(STAMBPL1):c.722A>G (p.His241Arg)	not specified [RCV004261308]	uncertain significance	10	88913402	88913402	Human		name
329380134	CV2466438	single nucleotide variant	NM_020799.4(STAMBPL1):c.997A>C (p.Asn333His)	not specified [RCV004273995]	uncertain significance	10	88916773	88916773	Human		name
401727240	CV2684528	single nucleotide variant	NM_020799.4(STAMBPL1):c.689C>A (p.Pro230His)	not specified [RCV004291596]	uncertain significance	10	88913369	88913369	Human		name
401866320	CV2782827	single nucleotide variant	NM_020799.4(STAMBPL1):c.503G>A (p.Arg168His)	not specified [RCV004361639]	uncertain significance	10	88913183	88913183	Human		name
405722391	CV3323729	single nucleotide variant	NM_020799.4(STAMBPL1):c.351G>C (p.Arg117Ser)	not specified [RCV004463330]	uncertain significance	10	88910942	88910942	Human		name
405722398	CV3323730	single nucleotide variant	NM_020799.4(STAMBPL1):c.391G>A (p.Val131Ile)	not specified [RCV004463331]	likely benign	10	88910982	88910982	Human		name
405722406	CV3323731	single nucleotide variant	NM_020799.4(STAMBPL1):c.574G>A (p.Gly192Ser)	not specified [RCV004463332]	uncertain significance	10	88913254	88913254	Human		name
405722414	CV3323732	single nucleotide variant	NM_020799.4(STAMBPL1):c.612G>C (p.Glu204Asp)	not specified [RCV004463333]	uncertain significance	10	88913292	88913292	Human		name
405722420	CV3323733	single nucleotide variant	NM_020799.4(STAMBPL1):c.833A>G (p.Lys278Arg)	not specified [RCV004463334]	likely benign	10	88914588	88914588	Human		name
405722426	CV3323734	single nucleotide variant	NM_020799.4(STAMBPL1):c.863T>G (p.Val288Gly)	not specified [RCV004463335]	uncertain significance	10	88914618	88914618	Human		name
407495683	CV3485283	single nucleotide variant	NM_020799.4(STAMBPL1):c.344T>C (p.Phe115Ser)	not specified [RCV004667939]	uncertain significance	10	88910935	88910935	Human		name
407495687	CV3485284	single nucleotide variant	NM_020799.4(STAMBPL1):c.329T>C (p.Leu110Pro)	not specified [RCV004667940]	uncertain significance	10	88910920	88910920	Human		name
407495694	CV3485285	single nucleotide variant	NM_020799.4(STAMBPL1):c.397T>C (p.Tyr133His)	not specified [RCV004667941]	uncertain significance	10	88910988	88910988	Human		name
597682606	CV3618354	single nucleotide variant	NM_020799.4(STAMBPL1):c.494C>T (p.Ala165Val)	not specified [RCV004857664]	uncertain significance	10	88913174	88913174	Human		name
597682617	CV3618355	single nucleotide variant	NM_020799.4(STAMBPL1):c.584G>A (p.Arg195Gln)	not specified [RCV004857665]	uncertain significance	10	88913264	88913264	Human		name
597682626	CV3618359	single nucleotide variant	NM_020799.4(STAMBPL1):c.339T>G (p.Ile113Met)	not specified [RCV004857666]	uncertain significance	10	88910930	88910930	Human		name
598250210	CV3919376	single nucleotide variant	NM_020799.4(STAMBPL1):c.784G>A (p.Val262Met)	not specified [RCV005277686]	uncertain significance	10	88914539	88914539	Human		name
598250217	CV3919377	single nucleotide variant	NM_020799.4(STAMBPL1):c.749C>T (p.Thr250Met)	not specified [RCV005277687]	uncertain significance	10	88913429	88913429	Human		name
598250245	CV3919380	single nucleotide variant	NM_020799.4(STAMBPL1):c.379A>G (p.Lys127Glu)	not specified [RCV005277690]	uncertain significance	10	88910970	88910970	Human		name
126744193	CV1019692	deletion	NM_213622.4(STAMBP):c.843_844del (p.Cys282fs)	Microcephaly-capillary malformation syndrome [RCV001336969]	pathogenic	2	73849463	73849464	Human	1	name
405722367	CV3323726	single nucleotide variant	NM_020799.4(STAMBPL1):c.1027C>G (p.Leu343Val)	not specified [RCV004463327]	uncertain significance	10	88916803	88916803	Human		name
405722373	CV3323727	single nucleotide variant	NM_020799.4(STAMBPL1):c.1058C>G (p.Thr353Ser)	not specified [RCV004463328]	uncertain significance	10	88921299	88921299	Human		name
597682600	CV3618353	single nucleotide variant	NM_020799.4(STAMBPL1):c.1285A>C (p.Lys429Gln)	not specified [RCV004857663]	uncertain significance	10	88923198	88923198	Human		name
597746623	CV3618357	single nucleotide variant	NM_020799.4(STAMBPL1):c.1109T>C (p.Met370Thr)	not specified [RCV004865911]	uncertain significance	10	88921350	88921350	Human		name
598250226	CV3919378	single nucleotide variant	NM_020799.4(STAMBPL1):c.1205G>A (p.Cys402Tyr)	not specified [RCV005277688]	uncertain significance	10	88922387	88922387	Human		name
598250237	CV3919379	single nucleotide variant	NM_020799.4(STAMBPL1):c.1240C>T (p.Pro414Ser)	not specified [RCV005277689]	uncertain significance	10	88922422	88922422	Human		name
13521076	CV495160	deletion	NM_213622.4(STAMBP):c.503_524del (p.Met168fs)	not provided [RCV000599156]	pathogenic	2	73847511	73847532	Human		name
9683950	CV168080	deletion	NM_213622.4(STAMBP):c.1259_1261del (p.Ile420del)	Microcephaly-capillary malformation syndrome [RCV000147673]\|not provided [RCV002515985]	uncertain significance	2	73862241	73862243	Human	1	name
11633706	CV271066	indel	NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)	not provided [RCV000363268]	pathogenic	2	73830962	73830964	Human		name

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