dbVar data for all organisms

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Supporting Variant Placements for nstd45 (displaying 100 of 397 variants)
Study ID	Variant ID	Variant Call type	Sampleset ID	Method	Analysis ID	Validation	Subject phenotype	Clinical Interpretation	Assembly	Accession	Chr	Inner-Start	Inner-End	Placement Type	Remap Score
nstd45	nssv1184516	copy number loss	1	Curated	Curated	No	CHROMOSOME 1p36 DELETION SYNDROME	Pathogenic	GRCh38.p12	NC_000001.11	1	898703	6229913	Remapped	0.97715
nstd45	nssv1184518	copy number loss	1	Curated	Curated	No	CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB	Pathogenic	GRCh38.p12	NC_000001.11	1	147105904	147922392	Remapped	0.99935
nstd45	nssv1184519	copy number gain	1	Curated	Curated	No	CHROMOSOME 1q21.1 DUPLICATION SYNDROME	Pathogenic	GRCh38.p12	NC_000001.11	1	147105904	147922392	Remapped	0.99935
nstd45	nssv1184520	copy number loss	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000007.14	7	61006478	62429617	Remapped	1.57898
nstd45	nssv1184521	copy number gain	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000007.14	7	61006478	62429617	Remapped	1.57898
nstd45	nssv1184564	copy number loss	1	Curated	Curated	No	MOWAT-WILSON SYNDROME; MOWS	Pathogenic	GRCh38.p12	NC_000002.12	2	144384375	144520391	Remapped	1
nstd45	nssv1184566	copy number loss	1	Curated	Curated	No	CHROMOSOME 2q37 DELETION SYNDROME	Pathogenic	GRCh38.p12	NC_000002.12	2	239032997	241988449	Remapped	0.99313
nstd45	nssv1184567	copy number loss	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000002.12	2	241988449	242157305	Remapped	0.98243
nstd45	nssv1184568	copy number gain	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000002.12	2	241988449	242157305	Remapped	0.98243
nstd45	nssv1184576	copy number loss	1	Curated	Curated	No	CHROMOSOME 3q29 DELETION SYNDROME	Pathogenic	GRCh38.p12	NC_000003.12	3	196029183	197617791	Remapped	1
nstd45	nssv1184578	copy number loss	1	Curated	Curated	No	CRI-DU-CHAT SYNDROME	Pathogenic	GRCh38.p12	NC_000005.10	5	37695	11347150	Remapped	0.99999
nstd45	nssv1184579	copy number loss	1	Curated	Curated	No	SOTOS SYNDROME 1; SOTOS1	Pathogenic	GRCh38.p12	NC_000005.10	5	176301976	177620792	Remapped	1
nstd45	nssv1184580	copy number loss	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000006.12	6	259528	339802	Remapped	1
nstd45	nssv1184581	copy number gain	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000006.12	6	259528	339802	Remapped	1
nstd45	nssv1184582	copy number loss	1	Curated	Curated	No	WILLIAMS-BEUREN SYNDROME; WBS	Pathogenic	GRCh38.p12	NC_000007.14	7	73330452	74728172	Remapped	0.99976
nstd45	nssv1184583	copy number gain	1	Curated	Curated	No	WILLIAMS-BEUREN REGION DUPLICATION SYNDROME	Pathogenic	GRCh38.p12	NC_000007.14	7	73330452	74728172	Remapped	0.99976
nstd45	nssv13656560	copy number loss	1	Curated	Curated	No	DERMATITIS, ATOPIC, 2; ATOD2;ICHTHYOSIS VULGARIS	Pathogenic	GRCh38.p12	NC_000001.11	1	152302175	152325203	Remapped	1
nstd45	nssv13656566	copy number loss	1	Curated	Curated	No	GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2	Pathogenic	GRCh38.p12	NC_000001.11	1	42925375	42959176	Remapped	1
nstd45	nssv14043479	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22	Pathogenic	GRCh38.p12	NC_000001.11	1	243124428	245154985	Remapped	1
nstd45	nssv14252545	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31	Pathogenic	GRCh38.p12	NC_000005.10	5	140114123	140119416	Remapped	1
nstd45	nssv14252548	copy number loss	1	Curated	Curated	No	COFFIN-SIRIS SYNDROME 2; CSS2	Pathogenic	GRCh38.p12	NC_000001.11	1	26696031	26782110	Remapped	1
nstd45	nssv14252549	copy number loss	1	Curated	Curated	No	autism spectrum disorder	Pathogenic	GRCh38.p12	NC_000004.12	4	112818083	113383740	Remapped	1
nstd45	nssv14252552	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19	Pathogenic	GRCh38.p12	NC_000003.12	3	41199424	41240453	Remapped	1
nstd45	nssv14252556	copy number loss	1	Curated	Curated	No	CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR	Pathogenic	GRCh38.p12	NC_000001.11	1	6785324	7769706	Remapped	1
nstd45	nssv14252558	copy number loss	1	Curated	Curated	No	developmental disorder of mental health	Pathogenic	GRCh38.p12	NC_000001.11	1	155335261	155562533	Remapped	1
nstd45	nssv14252559	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18	Pathogenic	GRCh38.p12	NC_000001.11	1	153804907	153922975	Remapped	1
nstd45	nssv14252560	copy number loss	1	Curated	Curated	No	WHITE-SUTTON SYNDROME; WHSUS	Pathogenic	GRCh38.p12	NC_000001.11	1	151402724	151459465	Remapped	1
nstd45	nssv14252561	copy number loss	1	Curated	Curated	No	developmental disorder of mental health	Pathogenic	GRCh38.p12	NC_000002.12	2	182924851	183038858	Remapped	1
nstd45	nssv14252564	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44	Pathogenic	GRCh38.p12	NC_000005.10	5	14143702	14510204	Remapped	1
nstd45	nssv14252565	copy number loss	1	Curated	Curated	No	mental disorder	Pathogenic	GRCh38.p12	NC_000002.12	2	161416094	161425867	Remapped	1
nstd45	nssv14252568	copy number loss	1	Curated	Curated	No	EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC	Pathogenic	GRCh38.p12	NC_000002.12	2	188974373	189012746	Remapped	1
nstd45	nssv14252569	copy number loss	1	Curated	Curated	No	BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD	Pathogenic	GRCh38.p12	NC_000001.11	1	61077274	61462788	Remapped	1
nstd45	nssv14252575	copy number loss	1	Curated	Curated	No	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Pathogenic	GRCh38.p12	NC_000002.12	2	60451167	60553498	Remapped	1
nstd45	nssv14252578	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27	Pathogenic	GRCh38.p12	NC_000002.12	2	5692667	5701385	Remapped	1
nstd45	nssv14252579	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39	Pathogenic	GRCh38.p12	NC_000002.12	2	1789113	2331313	Remapped	1
nstd45	nssv14472005	copy number loss	1	Curated	Curated	No	XIA-GIBBS SYNDROME	Pathogenic	GRCh38.p12	NC_000001.11	1	27534245	27603632	Remapped	1
nstd45	nssv14472006	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49	Pathogenic	GRCh38.p12	NC_000002.12	2	229763837	229922009	Remapped	1
nstd45	nssv14472007	copy number loss	1	Curated	Curated	No	complex neurodevelopmental disorder	Pathogenic	GRCh38.p12	NC_000003.12	3	10992734	11039249	Remapped	1
nstd45	nssv14472008	copy number loss	1	Curated	Curated	No	complex neurodevelopmental disorder	Pathogenic	GRCh38.p12	NC_000004.12	4	84669537	84966391	Remapped	1
nstd45	nssv14472009	copy number loss	1	Curated	Curated	No	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A	Pathogenic	GRCh38.p12	NC_000004.12	4	148078764	148442520	Remapped	1
nstd45	nssv14472010	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53	Pathogenic	GRCh38.p12	NC_000005.10	5	150219491	150289840	Remapped	1
nstd45	nssv14472011	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43	Pathogenic	GRCh38.p12	NC_000006.12	6	142751467	142945201	Remapped	1
nstd45	nssv15119394	copy number loss	1	Curated	Curated	No	RAHMAN SYNDROME; RMNS	Pathogenic	GRCh38.p12	NC_000006.12	6	26156331	26157115	Remapped	1
nstd45	nssv15119397	copy number loss	1	Curated	Curated	No	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	GRCh38.p12	NC_000001.11	1	55039476	55064853	Remapped	1
nstd45	nssv15768576	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41	Pathogenic	GRCh38.p12	NC_000003.12	3	177019355	177197326	Remapped	1
nstd45	nssv15768579	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22	Pathogenic	GRCh38.p12	NC_000001.11	1	244048939	244057476	Remapped	1
nstd45	nssv3442521	copy number loss	1	Curated	Curated	No	PULMONARY HYPERTENSION, PRIMARY, 1; PPH1	Pathogenic	GRCh38.p12	NC_000002.12	2	202376327	202567751	Remapped	1
nstd45	nssv3442527	copy number loss	1	Curated	Curated	No	DYSTONIA 11, MYOCLONIC; DYT11	Pathogenic	GRCh38.p12	NC_000007.14	7	94585224	94656209	Remapped	1
nstd45	nssv3442528	copy number loss	1	Curated	Curated	No	CHROMOSOME 2p16.3 DELETION SYNDROME	Pathogenic	GRCh38.p12	NC_000002.12	2	49918505	51032536	Remapped	1
nstd45	nssv3442529	copy number loss	1	Curated	Curated	No	WAARDENBURG SYNDROME, TYPE 2A; WS2A	Pathogenic	GRCh38.p12	NC_000003.12	3	69739435	69968337	Remapped	1
nstd45	nssv3442530	copy number loss	1	Curated	Curated	No	FEINGOLD SYNDROME 1; FGLDS1	Pathogenic	GRCh38.p12	NC_000002.12	2	15940438	15947007	Remapped	1
nstd45	nssv3442547	copy number gain	1	Curated	Curated	No	LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD	Pathogenic	GRCh38.p12	NC_000005.10	5	126776623	126837020	Remapped	1
nstd45	nssv3442550	copy number loss	1	Curated	Curated	No	MICROPHTHALMIA, SYNDROMIC 3; MCOPS3	Pathogenic	GRCh38.p12	NC_000003.12	3	181711924	181714436	Remapped	1
nstd45	nssv3442551	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5	Pathogenic	GRCh38.p12	NC_000006.12	6	33420070	33453689	Remapped	1
nstd45	nssv3442554	copy number loss	1	Curated	Curated	No	POLYCYSTIC KIDNEY DISEASE 2; PKD2	Pathogenic	GRCh38.p12	NC_000004.12	4	88007647	88077779	Remapped	1
nstd45	nssv3442555	copy number loss	1	Curated	Curated	No	PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4	Pathogenic	GRCh38.p12	NC_000001.11	1	180230298	180275053	Remapped	1
nstd45	nssv3442556	copy number loss	1	Curated	Curated	No	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6	Pathogenic	GRCh38.p12	NC_000002.12	2	165989160	166149132	Remapped	1
nstd45	nssv3442557	copy number loss	1	Curated	Curated	No	VAN DER WOUDE SYNDROME 1; VWS1	Pathogenic	GRCh38.p12	NC_000001.11	1	209785623	209806175	Remapped	1
nstd45	nssv3442558	copy number loss	1	Curated	Curated	No	VON HIPPEL-LINDAU SYNDROME; VHLS	Pathogenic	GRCh38.p12	NC_000003.12	3	10141635	10153670	Remapped	1
nstd45	nssv3442560	copy number loss	1	Curated	Curated	No	FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1	Pathogenic	GRCh38.p12	NC_000005.10	5	112707505	112846239	Remapped	1
nstd45	nssv3442563	copy number loss	1	Curated	Curated	No	TREACHER COLLINS SYNDROME 1; TCS1	Pathogenic	GRCh38.p12	NC_000005.10	5	150357639	150400308	Remapped	1
nstd45	nssv3442566	copy number loss	1	Curated	Curated	No	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1	Pathogenic	GRCh38.p12	NC_000004.12	4	110617423	110642123	Remapped	1
nstd45	nssv3442568	copy number loss	1	Curated	Curated	No	SUPRAVALVULAR AORTIC STENOSIS; SVAS	Pathogenic	GRCh38.p12	NC_000007.14	7	74027789	74069907	Remapped	1
nstd45	nssv3442574	copy number loss	1	Curated	Curated	No	HOLOPROSENCEPHALY 9; HPE9	Pathogenic	GRCh38.p12	NC_000002.12	2	120797291	120992653	Remapped	1
nstd45	nssv3442591	copy number loss	1	Curated	Curated	No	COFFIN-SIRIS SYNDROME 1; CSS1;MOVED TO 135900	Pathogenic	GRCh38.p12	NC_000006.12	6	156777855	157210779	Remapped	1
nstd45	nssv3442592	copy number loss	1	Curated	Curated	No	Congenital heart disease	Pathogenic	GRCh38.p12	NC_000005.10	5	173232104	173235312	Remapped	1
nstd45	nssv3442596	copy number loss	1	Curated	Curated	No	CARDIOMYOPATHY, DILATED, 1J; CMD1J;DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10	Pathogenic	GRCh38.p12	NC_000006.12	6	133241357	133532120	Remapped	1
nstd45	nssv3442603	copy number loss	1	Curated	Curated	No	PARIETAL FORAMINA 1; PFM1;PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD	Pathogenic	GRCh38.p12	NC_000005.10	5	174724572	174730899	Remapped	1
nstd45	nssv3442609	copy number loss	1	Curated	Curated	No	WAARDENBURG SYNDROME, TYPE 1; WS1	Pathogenic	GRCh38.p12	NC_000002.12	2	222199887	222298996	Remapped	1
nstd45	nssv3442610	copy number loss	1	Curated	Curated	No	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11;SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3	Pathogenic	GRCh38.p12	NC_000002.12	2	165239402	165392310	Remapped	1
nstd45	nssv3442611	copy number loss	1	Curated	Curated	No	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM;PARKES WEBER SYNDROME	Pathogenic	GRCh38.p12	NC_000005.10	5	87268253	87391926	Remapped	1
nstd45	nssv3442613	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1	Pathogenic	GRCh38.p12	NC_000002.12	2	148021011	148513477	Remapped	1
nstd45	nssv3442615	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20	Pathogenic	GRCh38.p12	NC_000005.10	5	88718241	88904105	Remapped	1
nstd45	nssv3442624	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES	Pathogenic	GRCh38.p12	NC_000003.12	3	70954714	71583989	Remapped	1
nstd45	nssv3442625	copy number loss	1	Curated	Curated	No	SOTOS SYNDROME 1; SOTOS1	Pathogenic	GRCh38.p12	NC_000005.10	5	177133079	177300213	Remapped	1
nstd45	nssv3442636	copy number loss	1	Curated	Curated	No	APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG;LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	Pathogenic	GRCh38.p12	NC_000005.10	5	44304995	44388682	Remapped	1
nstd45	nssv3442639	copy number loss	1	Curated	Curated	No	GLOMUVENOUS MALFORMATIONS; GVM	Pathogenic	GRCh38.p12	NC_000001.11	1	92246398	92299009	Remapped	1
nstd45	nssv3442650	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26	Pathogenic	GRCh38.p12	NC_000007.14	7	69598919	70793068	Remapped	1
nstd45	nssv3442657	copy number loss	1	Curated	Curated	No	CLEFT PALATE, ISOLATED; CPI	Pathogenic	GRCh38.p12	NC_000002.12	2	199269500	199471266	Remapped	1
nstd45	nssv3442658	copy number loss	1	Curated	Curated	No	BRACHYDACTYLY, TYPE D; BDD;BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD;SYNDACTYLY, TYPE V; SDTY5;SYNPOLYDACTYLY 1; SPD1	Pathogenic	GRCh38.p12	NC_000002.12	2	176092804	176095938	Remapped	1
nstd45	nssv3442659	copy number loss	1	Curated	Curated	No	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3	Pathogenic	GRCh38.p12	NC_000006.12	6	1610446	1613897	Remapped	1
nstd45	nssv3442684	copy number loss	1	Curated	Curated	No	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS	Pathogenic	GRCh38.p12	NC_000007.14	7	41960949	42237019	Remapped	1
nstd45	nssv3442695	copy number gain	1	Curated	Curated	No	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	Pathogenic	GRCh38.p12	NC_000006.12	6	143922155	144095424	Remapped	1
nstd45	nssv3442696	copy number loss	1	Curated	Curated	No	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES	Pathogenic	GRCh38.p12	NC_000003.12	3	138944224	138947140	Remapped	1
nstd45	nssv3442707	copy number loss	1	Curated	Curated	No	SAETHRE-CHOTZEN SYNDROME; SCS	Pathogenic	GRCh38.p12	NC_000007.14	7	19115468	19117672	Remapped	1
nstd45	nssv3442709	copy number loss	1	Curated	Curated	No	CORNELIA DE LANGE SYNDROME 1; CDLS1	Pathogenic	GRCh38.p12	NC_000005.10	5	36876759	37065819	Remapped	1
nstd45	nssv3442731	copy number loss	1	Curated	Curated	No	HOLOPROSENCEPHALY 2; HPE2	Pathogenic	GRCh38.p12	NC_000002.12	2	44941898	44946077	Remapped	1
nstd45	nssv3442745	copy number loss	1	Curated	Curated	No	WOLF-HIRSCHHORN SYNDROME; WHS	Pathogenic	GRCh38.p12	NC_000004.12	4	337779	2009235	Remapped	0.99527
nstd45	nssv3442746	copy number loss	1	Curated	Curated	No	CHROMOSOME 2p16.1-p15 DELETION SYNDROME	Pathogenic	GRCh38.p12	NC_000002.12	2	58912065	62261736	Remapped	1
nstd45	nssv4004213	copy number loss	1	Curated	Curated	No	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1	Pathogenic	GRCh38.p12	NC_000001.11	1	149923317	149928252	Remapped	1
nstd45	nssv4004214	copy number loss	1	Curated	Curated	No	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23	Pathogenic	GRCh38.p12	NC_000003.12	3	9397700	9478154	Remapped	1
nstd45	nssv4004215	copy number gain	1	Curated	Curated	No		Pathogenic	GRCh38.p12	NC_000005.10	5	176301976	177620792	Remapped	1
nstd45	nssv8635330	copy number loss	1	Curated	Curated	No	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4	Pathogenic	GRCh38.p12	NC_000007.14	7	5970925	6009106	Remapped	1
nstd45	nssv8635331	copy number loss	1	Curated	Curated	No	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2;LYNCH SYNDROME I	Pathogenic	GRCh38.p12	NC_000003.12	3	36993350	37050846	Remapped	1
nstd45	nssv8635332	copy number loss	1	Curated	Curated	No	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5	Pathogenic	GRCh38.p12	NC_000002.12	2	47783082	47806953	Remapped	1
nstd45	nssv8635339	copy number loss	1	Curated	Curated	No	IMMUNODEFICIENCY 21; IMD21;LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	Pathogenic	GRCh38.p12	NC_000003.12	3	128479422	128493187	Remapped	1
nstd45	nssv8635341	copy number loss	1	Curated	Curated	No	LYNCH SYNDROME I	Pathogenic	GRCh38.p12	NC_000002.12	2	47403067	47483228	Remapped	1
nstd45	nssv8635342	copy number loss	1	Curated	Curated	No	PARAGANGLIOMAS 4; PGL4;SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB	Pathogenic	GRCh38.p12	NC_000001.11	1	17018722	17054170	Remapped	1
nstd45	nssv8635344	copy number loss	1	Curated	Curated	No	CHAR SYNDROME; CHAR	Pathogenic	GRCh38.p12	NC_000006.12	6	50818726	50847613	Remapped	1
nstd45	nssv8635345	copy number loss	1	Curated	Curated	No	PARAGANGLIOMAS 3; PGL3	Pathogenic	GRCh38.p12	NC_000001.11	1	161314376	161364751	Remapped	1

dbVar

Database of genomic structural variation

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