Pmpcb Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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147 records found for search term Pmpcb

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126729688	CV1020315	single nucleotide variant	NM_004279.3(PMPCB):c.-3G>T	Multiple mitochondrial dysfunctions syndrome 6 [RCV001333215]\|PMPCB-related disorder [RCV003963223]	likely benign\|uncertain significance	7	103297457	103297457	Human	1	name , trait , alternate_id
405289181	CV3204964	single nucleotide variant	NM_004279.3(PMPCB):c.-7A>G	PMPCB-related disorder [RCV003961598]	likely benign	7	103297453	103297453	Human		name , trait , alternate_id
150331422	CV1169211	single nucleotide variant	NM_004279.3(PMPCB):c.-23C>T	not provided [RCV001536469]	benign	7	103297437	103297437	Human		name
150337393	CV1165813	single nucleotide variant	NM_004279.3(PMPCB):c.100-8C>T	not provided [RCV001532594]	benign\|likely benign	7	103298560	103298560	Human		name
150500615	CV1224825	single nucleotide variant	NM_004279.3(PMPCB):c.737-3T>C	Multiple mitochondrial dysfunctions syndrome 6 [RCV001789448]\|PMPCB-related disorder [RCV003980809]\|not provided [RCV001620657]	benign	7	103307593	103307593	Human	1	name , trait , alternate_id
150472034	CV1270191	single nucleotide variant	NM_004279.3(PMPCB):c.241-3A>G	not provided [RCV001695479]	benign	7	103299440	103299440	Human		name
152049012	CV1656973	single nucleotide variant	NM_004279.3(PMPCB):c.241-6A>G	not provided [RCV002189167]	likely benign	7	103299437	103299437	Human		name
152033998	CV1669080	single nucleotide variant	NM_004279.3(PMPCB):c.993+1G>A	not provided [RCV002223424]	uncertain significance	7	103309096	103309096	Human		name
156445185	CV1945183	single nucleotide variant	NM_004279.3(PMPCB):c.737-6A>G	not provided [RCV003116123]	uncertain significance	7	103307590	103307590	Human		name
156256196	CV2041268	single nucleotide variant	NM_004279.3(PMPCB):c.458-5A>G	not provided [RCV002806175]	uncertain significance	7	103303837	103303837	Human		name
402465334	CV2916513	single nucleotide variant	NM_004279.3(PMPCB):c.994-7C>A	not provided [RCV003569130]	likely benign	7	103310308	103310308	Human		name
405260583	CV3204202	single nucleotide variant	NM_004279.3(PMPCB):c.241-7C>G	PMPCB-related disorder [RCV003944062]	likely benign	7	103299436	103299436	Human		name , trait , alternate_id
405293615	CV3214314	duplication	NM_004279.3(PMPCB):c.994-9dup	PMPCB-related disorder [RCV003932011]	likely benign	7	103310297	103310298	Human		name , trait , alternate_id
150442369	CV1233686	single nucleotide variant	NM_004279.3(PMPCB):c.994-45G>A	not provided [RCV001645374]	benign	7	103310270	103310270	Human		name
150446911	CV1271939	single nucleotide variant	NM_004279.3(PMPCB):c.328-43T>C	not provided [RCV001691353]	benign	7	103300135	103300135	Human		name
152049912	CV1615218	single nucleotide variant	NM_004279.3(PMPCB):c.1329+4A>G	not provided [RCV002089021]	benign	7	103311900	103311900	Human		name
152124359	CV1665667	single nucleotide variant	NM_004279.3(PMPCB):c.993+19A>G	not provided [RCV002198480]	likely benign	7	103309114	103309114	Human		name
153349758	CV1693922	single nucleotide variant	NM_004279.3(PMPCB):c.99+115C>T	not provided [RCV002276176]	benign	7	103297673	103297673	Human		name
156111498	CV1997065	single nucleotide variant	NM_004279.3(PMPCB):c.1241-7T>C	not provided [RCV002662507]	likely benign	7	103311801	103311801	Human		name
156120991	CV2077741	single nucleotide variant	NM_004279.3(PMPCB):c.736+20T>C	not provided [RCV002871262]	likely benign	7	103304510	103304510	Human		name
401830230	CV2747946	single nucleotide variant	NM_004279.3(PMPCB):c.1154+5G>C	PMPCB-related ataxia [RCV003329563]	likely pathogenic	7	103310480	103310480	Human		name , trait
402492193	CV2877716	duplication	NM_004279.3(PMPCB):c.1241-4dup	not provided [RCV003544992]	likely benign	7	103311801	103311802	Human		name
405054759	CV3022343	single nucleotide variant	NM_004279.3(PMPCB):c.1406-3T>C	PMPCB-related disorder [RCV003901275]\|not provided [RCV003697183]	benign	7	103312204	103312204	Human	1	name , trait , alternate_id
405179721	CV3119668	single nucleotide variant	NM_004279.3(PMPCB):c.849+15C>G	not provided [RCV003819761]	likely benign	7	103307723	103307723	Human		name
597955860	CV3754491	single nucleotide variant	NM_004279.3(PMPCB):c.240+16A>G	not provided [RCV005080341]	likely benign	7	103298724	103298724	Human		name
597868511	CV3764484	single nucleotide variant	NM_004279.3(PMPCB):c.240+18C>G	not provided [RCV005107284]	likely benign	7	103298726	103298726	Human		name
597919701	CV3851910	single nucleotide variant	NM_004279.3(PMPCB):c.656+20T>C	not provided [RCV005204890]	likely benign	7	103304060	103304060	Human		name
152118168	CV1522292	single nucleotide variant	NM_004279.3(PMPCB):c.1154+11T>C	not provided [RCV002081181]	benign	7	103310486	103310486	Human		name
152065444	CV1601460	single nucleotide variant	NM_004279.3(PMPCB):c.1240+11A>C	not provided [RCV002168585]	likely benign	7	103311739	103311739	Human		name
156069417	CV1952591	single nucleotide variant	NM_004279.3(PMPCB):c.1241-15C>T	not provided [RCV002569559]	likely benign	7	103311793	103311793	Human		name
156216239	CV1963320	single nucleotide variant	NM_004279.3(PMPCB):c.1329+18A>G	not provided [RCV002575343]	likely benign	7	103311914	103311914	Human		name
597861472	CV3748784	single nucleotide variant	NM_004279.3(PMPCB):c.1405+13T>G	not provided [RCV005067416]	likely benign	7	103312144	103312144	Human		name
150332301	CV1171638	deletion	NM_004279.3(PMPCB):c.1154+220del	not provided [RCV001538968]	benign	7	103310675	103310675	Human		name
150456347	CV1278487	single nucleotide variant	NM_004279.3(PMPCB):c.1155-171T>C	not provided [RCV001709102]	benign	7	103311472	103311472	Human		name
156411025	CV1976042	single nucleotide variant	NM_004279.3(PMPCB):c.21A>C (p.Arg7=)	not provided [RCV002587357]	likely benign	7	103297480	103297480	Human		name
155952642	CV2043807	deletion	NM_004279.3(PMPCB):c.328-10_328-9del	PMPCB-related disorder [RCV003963358]\|not provided [RCV002775854]	benign	7	103300166	103300167	Human	1	name , trait , alternate_id
151353510	CV1326658	single nucleotide variant	NM_004279.3(PMPCB):c.8C>T (p.Ala3Val)	Inborn genetic diseases [RCV002542482]\|PMPCB-related disorder [RCV003976213]\|not provided [RCV001816476]	benign\|likely benign	7	103297467	103297467	Human	2	name , trait , alternate_id
152143000	CV1640743	deletion	NM_004279.3(PMPCB):c.657-26_657-14del	not provided [RCV002178303]	likely benign	7	103304383	103304395	Human		name
407471745	CV3467673	single nucleotide variant	NM_004279.3(PMPCB):c.5C>T (p.Ala2Val)	Inborn genetic diseases [RCV004662358]	uncertain significance	7	103297464	103297464	Human	1	name
597850056	CV3824535	single nucleotide variant	NM_004279.3(PMPCB):c.28T>C (p.Leu10=)	not provided [RCV005173574]	likely benign	7	103297487	103297487	Human		name
404999157	CV2850829	single nucleotide variant	NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)	Multiple mitochondrial dysfunctions syndrome 6 [RCV003493130]	uncertain significance	7	103297478	103297478	Human	1	name
405122094	CV3024612	single nucleotide variant	NM_004279.3(PMPCB):c.165T>A (p.Val55=)	not provided [RCV003700806]	likely benign	7	103298633	103298633	Human		name
408366414	CV3510073	single nucleotide variant	NM_004279.3(PMPCB):c.180A>G (p.Val60=)	PMPCB-related disorder [RCV004756693]	likely benign	7	103298648	103298648	Human		name , trait , alternate_id
598223826	CV3894052	single nucleotide variant	NM_004279.3(PMPCB):c.157C>T (p.Leu53=)	not provided [RCV005257295]	likely benign	7	103298625	103298625	Human		name
126727354	CV1016813	single nucleotide variant	NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)	Inborn genetic diseases [RCV002546556]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV001332397]\|not provided [RCV001859291]	likely benign\|uncertain significance	7	103297487	103297487	Human	2	name
151662368	CV1333065	single nucleotide variant	NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001837298]	likely pathogenic	7	103297491	103297491	Human	1	name
152169748	CV1538693	single nucleotide variant	NM_004279.3(PMPCB):c.492C>T (p.Ser164=)	not provided [RCV002182909]	likely benign	7	103303876	103303876	Human		name
152110558	CV1564075	single nucleotide variant	NM_004279.3(PMPCB):c.426T>C (p.Tyr142=)	PMPCB-related disorder [RCV003978887]\|not provided [RCV002174281]	likely benign	7	103300276	103300276	Human	1	name , trait , alternate_id
152075021	CV1599370	deletion	NM_004279.3(PMPCB):c.1330-20_1330-19del	not provided [RCV002075612]	likely benign	7	103312035	103312036	Human		name
152110307	CV1617672	duplication	NM_004279.3(PMPCB):c.1240+15_1240+20dup	not provided [RCV002116460]	likely benign	7	103311741	103311742	Human		name
156381534	CV1873692	single nucleotide variant	NM_004279.3(PMPCB):c.528A>T (p.Gly176=)	PMPCB-related disorder [RCV003963581]\|not provided [RCV003067210]	benign\|likely benign	7	103303912	103303912	Human	1	name , trait , alternate_id
156372039	CV2127584	single nucleotide variant	NM_004279.3(PMPCB):c.303C>T (p.His101=)	PMPCB-related disorder [RCV003961256]\|not provided [RCV002942404]	likely benign	7	103299505	103299505	Human	1	name , trait , alternate_id
405085648	CV2865780	single nucleotide variant	NM_004279.3(PMPCB):c.396C>G (p.Ala132=)	not provided [RCV003549459]	likely benign	7	103300246	103300246	Human		name
405160139	CV3061761	single nucleotide variant	NM_004279.3(PMPCB):c.684T>C (p.Asp228=)	not provided [RCV003727008]	likely benign	7	103304438	103304438	Human		name
405202767	CV3067030	single nucleotide variant	NM_004279.3(PMPCB):c.954G>A (p.Thr318=)	not provided [RCV003730887]	likely benign	7	103309056	103309056	Human		name
597726536	CV3580459	single nucleotide variant	NM_004279.3(PMPCB):c.81C>G (p.Ile27Met)	Inborn genetic diseases [RCV004962315]	uncertain significance	7	103297540	103297540	Human	1	name
597920353	CV3738068	single nucleotide variant	NM_004279.3(PMPCB):c.852T>C (p.Ile284=)	not provided [RCV005074667]	likely benign	7	103308954	103308954	Human		name
597831601	CV3750901	single nucleotide variant	NM_004279.3(PMPCB):c.882G>A (p.Ala294=)	not provided [RCV005084645]	likely benign	7	103308984	103308984	Human		name
597953826	CV3844273	single nucleotide variant	NM_004279.3(PMPCB):c.768A>G (p.Ala256=)	not provided [RCV005190946]	benign	7	103307627	103307627	Human		name
597915982	CV3845710	single nucleotide variant	NM_004279.3(PMPCB):c.754T>C (p.Leu252=)	not provided [RCV005183505]	likely benign	7	103307613	103307613	Human		name
126727352	CV1016814	single nucleotide variant	NM_004279.3(PMPCB):c.150A>C (p.Gln50His)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001332396]	uncertain significance	7	103298618	103298618	Human	1	name
150444002	CV1258456	single nucleotide variant	NM_004279.3(PMPCB):c.104T>C (p.Leu35Ser)	not provided [RCV001679654]	benign	7	103298572	103298572	Human		name
151869967	CV1416828	single nucleotide variant	NM_004279.3(PMPCB):c.290A>G (p.Asn97Ser)	See cases [RCV002252745]\|not provided [RCV001998202]	uncertain significance	7	103299492	103299492	Human		name
155797209	CV1863221	single nucleotide variant	NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)	Inborn genetic diseases [RCV002571490]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV002470495]	uncertain significance	7	103298590	103298590	Human	2	name
156440284	CV1946645	single nucleotide variant	NM_004279.3(PMPCB):c.1332T>G (p.Ala444=)	not provided [RCV003110315]	likely benign	7	103312058	103312058	Human		name
156410116	CV1962117	single nucleotide variant	NM_004279.3(PMPCB):c.1146A>G (p.Gln382=)	not provided [RCV002587052]	likely benign	7	103310467	103310467	Human		name
156113180	CV2212669	single nucleotide variant	NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)	Inborn genetic diseases [RCV002707340]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV003492808]	uncertain significance	7	103298604	103298604	Human	2	name
402503397	CV2937764	single nucleotide variant	NM_004279.3(PMPCB):c.1210C>T (p.Leu404=)	not provided [RCV003661813]	uncertain significance	7	103311698	103311698	Human		name
405140727	CV2961996	single nucleotide variant	NM_004279.3(PMPCB):c.1239T>C (p.Asp413=)	not provided [RCV003673199]	uncertain significance	7	103311727	103311727	Human		name
405237847	CV3077798	single nucleotide variant	NM_004279.3(PMPCB):c.221C>G (p.Ser74Cys)	not provided [RCV003736246]	uncertain significance	7	103298689	103298689	Human		name
405253602	CV3178279	single nucleotide variant	NM_004279.3(PMPCB):c.1009C>T (p.Leu337=)	not provided [RCV003871060]	likely benign	7	103310330	103310330	Human		name
405285318	CV3212304	single nucleotide variant	NM_004279.3(PMPCB):c.1251A>C (p.Pro417=)	PMPCB-related disorder [RCV003958924]\|not provided [RCV005102915]	likely benign	7	103311818	103311818	Human	1	name , trait , alternate_id
405652191	CV3376441	single nucleotide variant	NM_004279.3(PMPCB):c.229T>C (p.Ser77Pro)	Inborn genetic diseases [RCV004509650]	uncertain significance	7	103298697	103298697	Human	1	name
597726529	CV3580458	single nucleotide variant	NM_004279.3(PMPCB):c.278A>G (p.Asn93Ser)	Inborn genetic diseases [RCV004962314]	uncertain significance	7	103299480	103299480	Human	1	name
598186651	CV4003362	single nucleotide variant	NM_004279.3(PMPCB):c.167C>G (p.Pro56Arg)	Inborn genetic diseases [RCV005395796]	uncertain significance	7	103298635	103298635	Human	1	name
598186654	CV4003363	single nucleotide variant	NM_004279.3(PMPCB):c.212C>T (p.Ser71Leu)	Inborn genetic diseases [RCV005395797]	uncertain significance	7	103298680	103298680	Human	1	name
126727356	CV1016815	single nucleotide variant	NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001332398]\|not provided [RCV004779076]	uncertain significance	7	103303854	103303854	Human	1	name
150547237	CV1315847	single nucleotide variant	NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)	Inborn genetic diseases [RCV002541228]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV001785197]	uncertain significance	7	103304415	103304415	Human	2	name
151663386	CV1333920	single nucleotide variant	NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001839095]	likely pathogenic	7	103303990	103303990	Human	1	name
151886946	CV1514204	single nucleotide variant	NM_004279.3(PMPCB):c.378G>A (p.Met126Ile)	not provided [RCV001962869]	uncertain significance	7	103300228	103300228	Human		name
152130864	CV1523592	single nucleotide variant	NM_004279.3(PMPCB):c.935G>A (p.Cys312Tyr)	Multiple mitochondrial dysfunctions syndrome 6 [RCV002494298]\|not provided [RCV002136900]	benign\|likely benign	7	103309037	103309037	Human	1	name
156339373	CV1973989	single nucleotide variant	NM_004279.3(PMPCB):c.871A>G (p.Met291Val)	not provided [RCV002601198]	uncertain significance	7	103308973	103308973	Human		name
156204087	CV2110188	single nucleotide variant	NM_004279.3(PMPCB):c.881C>T (p.Ala294Val)	not provided [RCV002957488]	uncertain significance	7	103308983	103308983	Human		name
156323867	CV2134360	single nucleotide variant	NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)	Inborn genetic diseases [RCV004065079]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV003108139]\|not provided [RCV002963392]	uncertain significance	7	103300205	103300205	Human	2	name
156234069	CV2180551	single nucleotide variant	NM_004279.3(PMPCB):c.886C>T (p.Leu296Phe)	not provided [RCV003043199]	uncertain significance	7	103308988	103308988	Human		name
156397469	CV2200565	single nucleotide variant	NM_004279.3(PMPCB):c.980T>C (p.Phe327Ser)	Inborn genetic diseases [RCV002655136]	uncertain significance	7	103309082	103309082	Human	1	name
156089382	CV2259120	single nucleotide variant	NM_004279.3(PMPCB):c.820C>G (p.Leu274Val)	Inborn genetic diseases [RCV002798410]	uncertain significance	7	103307679	103307679	Human	1	name
156151398	CV2268950	single nucleotide variant	NM_004279.3(PMPCB):c.682G>A (p.Asp228Asn)	Inborn genetic diseases [RCV002826803]	uncertain significance	7	103304436	103304436	Human	1	name
156361012	CV2269153	single nucleotide variant	NM_004279.3(PMPCB):c.479T>C (p.Ile160Thr)	Inborn genetic diseases [RCV002812823]\|not provided [RCV004725595]	uncertain significance	7	103303863	103303863	Human	1	name
156077055	CV2351002	single nucleotide variant	NM_004279.3(PMPCB):c.838A>T (p.Thr280Ser)	Inborn genetic diseases [RCV003001070]\|not provided [RCV003730349]	likely benign	7	103307697	103307697	Human	1	name
156169824	CV2380529	single nucleotide variant	NM_004279.3(PMPCB):c.894A>G (p.Ile298Met)	Inborn genetic diseases [RCV002698755]	uncertain significance	7	103308996	103308996	Human	1	name
156144902	CV2383962	single nucleotide variant	NM_004279.3(PMPCB):c.392A>G (p.Asn131Ser)	Inborn genetic diseases [RCV002709303]	uncertain significance	7	103300242	103300242	Human	1	name
156053780	CV2388561	single nucleotide variant	NM_004279.3(PMPCB):c.698A>G (p.His233Arg)	Inborn genetic diseases [RCV002759498]	uncertain significance	7	103304452	103304452	Human	1	name
156260052	CV2395520	single nucleotide variant	NM_004279.3(PMPCB):c.973C>T (p.Arg325Cys)	Inborn genetic diseases [RCV002769390]	uncertain significance	7	103309075	103309075	Human	1	name
401855224	CV2752821	duplication	NM_004279.3(PMPCB):c.1078dup (p.Thr360fs)	Multiple mitochondrial dysfunctions syndrome 6 [RCV003337875]	likely pathogenic	7	103310398	103310399	Human	1	name
401856549	CV2764862	single nucleotide variant	NM_004279.3(PMPCB):c.625C>T (p.Arg209Trp)	Inborn genetic diseases [RCV003340461]	uncertain significance	7	103304009	103304009	Human	1	name
401897718	CV2772860	single nucleotide variant	NM_004279.3(PMPCB):c.688A>G (p.Ile230Val)	Inborn genetic diseases [RCV003375888]	uncertain significance	7	103304442	103304442	Human	1	name
401900033	CV2780224	single nucleotide variant	NM_004279.3(PMPCB):c.587A>C (p.Tyr196Ser)	Inborn genetic diseases [RCV003378382]	uncertain significance	7	103303971	103303971	Human	1	name
401932501	CV2799363	single nucleotide variant	NM_004279.3(PMPCB):c.626G>A (p.Arg209Gln)	Inborn genetic diseases [RCV004661643]\|PMPCB-related disorder [RCV003408628]\|not provided [RCV004775397]	uncertain significance	7	103304010	103304010	Human	2	name , trait , alternate_id
405038892	CV3140946	single nucleotide variant	NM_004279.3(PMPCB):c.716T>C (p.Ile239Thr)	not provided [RCV003831239]	uncertain significance	7	103304470	103304470	Human		name
405288628	CV3193735	microsatellite	NM_004279.3(PMPCB):c.43_47dup (p.Arg17fs)	PMPCB-related disorder [RCV003982741]	uncertain significance	7	103297494	103297495	Human		name , trait , alternate_id
405652196	CV3376443	single nucleotide variant	NM_004279.3(PMPCB):c.781G>A (p.Gly261Ser)	Inborn genetic diseases [RCV004509652]	uncertain significance	7	103307640	103307640	Human	1	name
405652198	CV3376444	single nucleotide variant	NM_004279.3(PMPCB):c.853C>T (p.Arg285Cys)	Inborn genetic diseases [RCV004509653]	uncertain significance	7	103308955	103308955	Human	1	name
405652203	CV3376446	single nucleotide variant	NM_004279.3(PMPCB):c.947C>T (p.Ala316Val)	Inborn genetic diseases [RCV004509655]	uncertain significance	7	103309049	103309049	Human	1	name
405652206	CV3376447	single nucleotide variant	NM_004279.3(PMPCB):c.995A>G (p.Asn332Ser)	Inborn genetic diseases [RCV004509656]	uncertain significance	7	103310316	103310316	Human	1	name
407519488	CV3467671	single nucleotide variant	NM_004279.3(PMPCB):c.617C>G (p.Ala206Gly)	Inborn genetic diseases [RCV004651523]	uncertain significance	7	103304001	103304001	Human	1	name
596923451	CV3530433	single nucleotide variant	NM_004279.3(PMPCB):c.317T>C (p.Met106Thr)	not provided [RCV004777032]	uncertain significance	7	103299519	103299519	Human		name
596924790	CV3536748	single nucleotide variant	NM_004279.3(PMPCB):c.986G>A (p.Gly329Glu)	Multiple mitochondrial dysfunctions syndrome 6 [RCV004785741]	uncertain significance	7	103309088	103309088	Human	1	name
597910508	CV3782146	single nucleotide variant	NM_004279.3(PMPCB):c.592C>T (p.His198Tyr)	not provided [RCV005128638]	uncertain significance	7	103303976	103303976	Human		name
597930140	CV3837532	single nucleotide variant	NM_004279.3(PMPCB):c.931A>G (p.Ile311Val)	not provided [RCV005185690]	likely benign	7	103309033	103309033	Human		name
598186658	CV4003364	single nucleotide variant	NM_004279.3(PMPCB):c.416C>A (p.Thr139Asn)	Inborn genetic diseases [RCV005395798]	uncertain significance	7	103300266	103300266	Human	1	name
598186663	CV4003365	single nucleotide variant	NM_004279.3(PMPCB):c.832A>C (p.Lys278Gln)	Inborn genetic diseases [RCV005395799]	uncertain significance	7	103307691	103307691	Human	1	name
13607414	CV513764	single nucleotide variant	NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys)	Inborn genetic diseases [RCV001267319]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV000626411]\|PMPCB-related mitochondrial disorder [RCV001249736]\|not provided [RCV003727788]	pathogenic\|likely pathogenic	7	103303907	103303907	Human	2	name , trait
13607416	CV513765	single nucleotide variant	NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)	Inborn genetic diseases [RCV001267318]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV000626412]\|not provided [RCV002221567]	pathogenic\|likely pathogenic\|uncertain significance	7	103303985	103303985	Human	2	name
13606616	CV513766	single nucleotide variant	NM_004279.3(PMPCB):c.524G>A (p.Arg175His)	Multiple mitochondrial dysfunctions syndrome 6 [RCV000626413]	pathogenic\|likely pathogenic	7	103303908	103303908	Human	1	name
13627203	CV513767	single nucleotide variant	NM_004279.3(PMPCB):c.530T>G (p.Val177Gly)	Multiple mitochondrial dysfunctions syndrome 6 [RCV000626414]	pathogenic	7	103303914	103303914	Human	1	name
126727348	CV1016816	single nucleotide variant	NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001332395]\|not provided [RCV004779075]	uncertain significance	7	103310408	103310408	Human	1	name
150431643	CV1234227	single nucleotide variant	NM_004279.3(PMPCB):c.1188G>T (p.Glu396Asp)	PMPCB-related disorder [RCV003980860]\|not provided [RCV001641880]	benign	7	103311676	103311676	Human	1	name , trait , alternate_id
150529388	CV1288947	single nucleotide variant	NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)	Inborn genetic diseases [RCV004656641]\|Multiple mitochondrial dysfunctions syndrome 6 [RCV002471137]\|PMPCB-related disorder [RCV003910980]\|not provided [RCV001727416]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	103312062	103312062	Human	2	name , trait , alternate_id
151663388	CV1333921	single nucleotide variant	NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys)	Multiple mitochondrial dysfunctions syndrome 6 [RCV001839096]\|PMPCB-related disorder [RCV003956407]\|not provided [RCV002542820]	likely pathogenic\|likely benign\|uncertain significance	7	103312263	103312263	Human	1	name , trait , alternate_id
155955975	CV1907272	single nucleotide variant	NM_004279.3(PMPCB):c.1441C>T (p.Arg481Cys)	not provided [RCV003095587]	uncertain significance	7	103312242	103312242	Human		name
155957749	CV1911834	single nucleotide variant	NM_004279.3(PMPCB):c.1255T>A (p.Cys419Ser)	not provided [RCV002616572]	uncertain significance	7	103311822	103311822	Human		name
156345170	CV1981866	single nucleotide variant	NM_004279.3(PMPCB):c.1463G>A (p.Arg488His)	not provided [RCV002631640]	uncertain significance	7	103312264	103312264	Human		name
156334721	CV2000902	single nucleotide variant	NM_004279.3(PMPCB):c.1182A>C (p.Glu394Asp)	not provided [RCV002650012]	uncertain significance	7	103311670	103311670	Human		name
156290864	CV2055216	single nucleotide variant	NM_004279.3(PMPCB):c.1399G>A (p.Ala467Thr)	not provided [RCV002833198]	uncertain significance	7	103312125	103312125	Human		name
156101628	CV2103568	single nucleotide variant	NM_004279.3(PMPCB):c.1123G>A (p.Ala375Thr)	PMPCB-related disorder [RCV003926514]\|not provided [RCV002927070]	benign	7	103310444	103310444	Human	1	name , trait , alternate_id
156237182	CV2193541	single nucleotide variant	NM_004279.3(PMPCB):c.1300C>T (p.Pro434Ser)	Inborn genetic diseases [RCV002645336]	uncertain significance	7	103311867	103311867	Human	1	name
156061750	CV2240018	single nucleotide variant	NM_004279.3(PMPCB):c.1417C>G (p.Gln473Glu)	Inborn genetic diseases [RCV002782647]	uncertain significance	7	103312218	103312218	Human	1	name
156047763	CV2315718	single nucleotide variant	NM_004279.3(PMPCB):c.1029T>G (p.His343Gln)	Inborn genetic diseases [RCV002924281]	uncertain significance	7	103310350	103310350	Human	1	name
156087386	CV2336964	single nucleotide variant	NM_004279.3(PMPCB):c.1034A>G (p.Asn345Ser)	Inborn genetic diseases [RCV002952163]	uncertain significance	7	103310355	103310355	Human	1	name
401898163	CV2781020	single nucleotide variant	NM_004279.3(PMPCB):c.1325T>C (p.Ile442Thr)	Inborn genetic diseases [RCV003376315]	uncertain significance	7	103311892	103311892	Human	1	name
405172725	CV2955308	single nucleotide variant	NM_004279.3(PMPCB):c.1246A>G (p.Thr416Ala)	not provided [RCV003675555]	uncertain significance	7	103311813	103311813	Human		name
405290400	CV3219871	single nucleotide variant	NM_004279.3(PMPCB):c.1321A>G (p.Arg441Gly)	PMPCB-related disorder [RCV003962265]	uncertain significance	7	103311888	103311888	Human		name , trait , alternate_id
405652182	CV3376437	single nucleotide variant	NM_004279.3(PMPCB):c.1348A>G (p.Ile450Val)	Inborn genetic diseases [RCV004509646]	likely benign	7	103312074	103312074	Human	1	name
405652184	CV3376438	single nucleotide variant	NM_004279.3(PMPCB):c.1356A>T (p.Glu452Asp)	Inborn genetic diseases [RCV004509647]	uncertain significance	7	103312082	103312082	Human	1	name
405652187	CV3376439	single nucleotide variant	NM_004279.3(PMPCB):c.1385G>T (p.Ser462Ile)	Inborn genetic diseases [RCV004509648]	uncertain significance	7	103312111	103312111	Human	1	name
405652189	CV3376440	single nucleotide variant	NM_004279.3(PMPCB):c.1406G>A (p.Gly469Asp)	Inborn genetic diseases [RCV004509649]	uncertain significance	7	103312207	103312207	Human	1	name
408368479	CV3500658	single nucleotide variant	NM_004279.3(PMPCB):c.1195C>G (p.Arg399Gly)	Multiple mitochondrial dysfunctions syndrome 6 [RCV004723730]	uncertain significance	7	103311683	103311683	Human	1	name
408380860	CV3501719	single nucleotide variant	NM_004279.3(PMPCB):c.1007A>G (p.Lys336Arg)	not provided [RCV004729247]	uncertain significance	7	103310328	103310328	Human		name
597726521	CV3580457	single nucleotide variant	NM_004279.3(PMPCB):c.1438A>C (p.Ile480Leu)	Inborn genetic diseases [RCV004962313]	uncertain significance	7	103312239	103312239	Human	1	name
597726541	CV3580460	single nucleotide variant	NM_004279.3(PMPCB):c.1452G>A (p.Met484Ile)	Inborn genetic diseases [RCV004962316]	uncertain significance	7	103312253	103312253	Human	1	name
598186646	CV4003361	single nucleotide variant	NM_004279.3(PMPCB):c.1336A>C (p.Asn446His)	Inborn genetic diseases [RCV005395795]	uncertain significance	7	103312062	103312062	Human	1	name
13607418	CV513768	single nucleotide variant	NM_004279.3(PMPCB):c.1265T>C (p.Ile422Thr)	Multiple mitochondrial dysfunctions syndrome 6 [RCV000626415]	pathogenic	7	103311832	103311832	Human	1	name
329846595	CV2523809	microsatellite	NM_004279.3(PMPCB):c.543_544del (p.Glu181fs)	Multiple mitochondrial dysfunctions syndrome 6 [RCV003226099]	likely pathogenic	7	103303922	103303923	Human		name
156357022	CV1917747	deletion	NM_004279.3(PMPCB):c.1450_1451del (p.Met484fs)	not provided [RCV002632411]	uncertain significance	7	103312251	103312252	Human		name
596946156	CV3550440	microsatellite	NM_004279.3(PMPCB):c.1164_1165del (p.Cys389fs)	Multiple mitochondrial dysfunctions syndrome 6 [RCV004818981]	uncertain significance	7	103311650	103311651	Human		name
402483643	CV3036709	insertion	NM_004279.3(PMPCB):c.559_560insAAAAGTATGTTTCAGAAAGTAATTTTCCCCCTGGTAATCTAAGTGAAACTGTAGTTAGCT (p.Thr187delinsLysLysTyrValSerGluSerAsnPheProProGlyAsnLeuSerGluThrValValSerSer)	not provided [RCV003713095]	uncertain significance	7	103303943	103303944	Human		name

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