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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Diseases (C)
Parent Node: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
Parent Node: Muscular Atrophy (D009133)
Parent Node: Tremor (D014202)
..Starting node ..MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Child Nodes:
Sister Nodes:
..Fragile X Tremor Ataxia Syndrome (C564105)
..Geniospasm (C537682)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..Primary orthostatic tremor (C536418)
..Tremor hereditary essential, 2 (C536546)
..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7800

Name:

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE

Definition:

Alternative IDs:

DO:DOID:0060822

ParentIDs:

MESH:C567069|MESH:D006130|MESH:D007006|MESH:D009133|MESH:D014202

TreeNumbers:

C10.597.350.850/300354 |C10.597.606.360.455/C567069/300354 |C10.597.613.612/300354 |C16.320.322.500/C567069/300354 |C16.320.400.525/C567069/300354 |C19.391.482/300354 |C23.300.070.500/300354 |C23.550.393/300354 |C23.888.592.350.850/300354 |C23.888.592.608.612/300

Synonyms:

Slim Mappings:

Reference:

MedGen: 300354
MeSH: 300354
OMIM: 300354;
MSeqDR :
Genes: CUL4B;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0012743	Abdominal obesity	HP:0040284
3	HP:0003011	Abnormality of the musculature
4	HP:0000377	Abnormality of the pinna
5	HP:0001344	Absent speech
6	HP:0000718	Aggressive behavior	HP:0040284
7	HP:0001156	Brachydactyly	HP:0040283
8	HP:0006855	Cerebellar vermis atrophy	HP:0040283
9	HP:0000280	Coarse facial features
10	HP:0002539	Cortical dysplasia	HP:0040283
11	HP:0009879	Cortical gyral simplification	HP:0040283
12	HP:0000028	Cryptorchidism
13	HP:0008734	Decreased testicular size	HP:0040284
14	HP:0000823	Delayed puberty NAMDC: Prolonged pubertal growth spurt
15	HP:0000750	Delayed speech and language development NAMDC: Delayed language	HP:0040284
16	HP:0005280	Depressed nasal bridge
17	HP:0008944	Distal lower limb amyotrophy	HP:0040284
18	HP:0002066	Gait ataxia	HP:0040284
19	HP:0001290	Generalized hypotonia
20	HP:0000771	Gynecomastia	HP:0040284
21	HP:0000348	High forehead
22	HP:0000752	Hyperactivity
23	HP:0000135	Hypogonadism NAMDC: Hypoparathyroidism
24	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283
25	HP:0000047	Hypospadias
26	HP:0001249	Intellectual disability
27	HP:0001388	Joint laxity
28	HP:0002808	Kyphosis
29	HP:0000158	Macroglossia
30	HP:0000303	Mandibular prognathia
31	HP:0000054	Micropenis
32	HP:0000720	Mood swings
33	HP:0001270	Motor delay	HP:0040284
34	HP:0001761	Pes cavus
35	HP:0001763	Pes planus	HP:0040284
36	HP:0002126	Polymicrogyria	HP:0040283
37	HP:0004482	Relative macrocephaly
38	HP:0001250	Seizures NAMDC: Seizures	HP:0040284 Infantile onset
39	HP:0001773	Short foot	HP:0040284
40	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
41	HP:0200055	Small hand
42	HP:0001065	Striae distensae
43	HP:0000179	Thick lower lip vermilion	HP:0040284
44	HP:0001337	Tremor	HP:0040284
45	HP:0002119	Ventriculomegaly
46	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_117629935)_(119761021_?)del	8450	CUL4B	Pathogenic	-1	RCV003113287;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	117629935	119761021		-
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)	8450	CUL4B	Uncertain significance	2147314730	RCV001964126;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119660626	119660627	119660626	-
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)	8450	CUL4B	Uncertain significance	768424127	RCV001725875;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119660652	119660652	119660652	-
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)	8450	CUL4B	Uncertain significance	1922994124	RCV001849897;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119660654	119660654	119660654	-
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)	8450	CUL4B	Benign	143580749	RCV000640930\|RCV000615115\|RCV002438551;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	X	119660670	119660670	X:g.119660670C>T	ClinGen:CA10505393	CN169374 not specified;
NM_001079872.2(CUL4B):c.2593-18A>C	8450	CUL4B	Likely benign	1297445532	RCV002193229;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119660729	119660729	119660729	-
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)	8450	CUL4B	Likely pathogenic	-1	RCV003236630;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119663961	119663973		-
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)	8450	CUL4B	Uncertain significance	1556181426	RCV000515477;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119664026	119664026	X:g.119664026C>G	ClinGen:CA414192914	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)	8450	CUL4B	Uncertain significance	-1	RCV003091104;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119664043	119664043	NC_000023.10:g.119664043T>C	-
NM_001079872.2(CUL4B):c.2439+11C>A	8450	CUL4B	Likely benign	-1	RCV002871220;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119666266	119666266	NC_000023.10:g.119666266G>T	-
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)	8450	CUL4B	Uncertain significance	-1	RCV003153077;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119666312	119666312		-
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)	8450	CUL4B	Uncertain significance	-1	RCV003063877;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119666326	119666326	NC_000023.10:g.119666326T>A	-
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)	8450	CUL4B	Uncertain significance	-1	RCV003412575;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119666360	119666360		-
NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)	8450	CUL4B	Likely benign	-1	RCV002635709;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119666426	119666426		-
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)	8450	CUL4B	Pathogenic	-1	RCV002468695;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119668336	119668337	NC_000023.10:g.119668338_119668339dup	-
NM_001079872.2(CUL4B):c.2161-15T>G	8450	CUL4B	Benign	183114462	RCV000421167\|RCV002062506;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119668456	119668456	X:g.119668456A>C	ClinGen:CA10505434	CN169374 not specified;
NM_001079872.2(CUL4B):c.2161-15T>C	8450	CUL4B	Benign	183114462	RCV002129727;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119668456	119668456	119668456	-
NM_001079872.2(CUL4B):c.2160+8G>A	8450	CUL4B	Likely benign	-1	RCV003042389;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119669677	119669677	NC_000023.10:g.119669677C>T	-
NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=)	8450	CUL4B	Likely benign	-1	RCV002824227;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119669727	119669727		-
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)	8450	CUL4B	Uncertain significance	2147325555	RCV002273361;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119669753	119669753	119669753	-
NM_001079872.2(CUL4B):c.2046+6A>C	8450	CUL4B	Benign	-1	RCV002634037;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119670776	119670776	NC_000023.10:g.119670776T>G	-
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)	8450	CUL4B	Benign	-1	RCV003073856;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119670805	119670805	NC_000023.10:g.119670805T>C	-
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)	8450	CUL4B	Benign	185389157	RCV000893153\|RCV001818680;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:CN169374	X	119670866	119670866	X:g.119670866C>T	-
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)	8450	CUL4B	Benign/Likely benign	148700620	RCV000175044\|RCV000600141\|RCV000711343\|RCV002317009;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	119672060	119672060	X:g.119672060G>A	ClinGen:CA201270	CN169374 not specified;
NM_001079872.2(CUL4B):c.1853-19G>A	8450	CUL4B	Benign	-1	RCV002982530;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672083	119672083	NC_000023.10:g.119672083C>T	-
NM_001079872.2(CUL4B):c.1852+3A>G	8450	CUL4B	Uncertain significance	-1	RCV003145929;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672512	119672512	NC_000023.10:g.119672512T>C	-
NM_001079872.2(CUL4B):c.1852+1G>T	8450	CUL4B	Pathogenic	797044862	RCV000190824\|RCV001795310;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|	X	119672514	119672514	NC_000023.10:g.119672514C>A	ClinGen:CA358351,OMIM:300304.0005	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro)	8450	CUL4B	Uncertain significance	2147328180	RCV002250896;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672532	119672532	119672532	-
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)	8450	CUL4B	Benign/Likely benign	751833365	RCV001636492\|RCV002072965\|RCV002414288\|RCV001821936;	N	MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	X	119672570	119672570	119672570	-
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)	8450	CUL4B	Conflicting interpretations of pathogenicity	1556200641	RCV000501059\|RCV003335433;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672581	119672581	X:g.119672581G>A	ClinGen:CA414195545	CN169374 not specified;
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)	8450	CUL4B	Uncertain significance	-1	RCV002301077;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672620	119672620	119672620	-
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)	8450	CUL4B	Uncertain significance	-1	RCV003228580;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119672624	119672624		-
NM_001079872.2(CUL4B):c.1741+4_1741+7del	8450	CUL4B	Likely pathogenic	1569389364	RCV000770976;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119673116	119673119	NC_000023.10:g.119673119_119673122del	-
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)	8450	CUL4B	Uncertain significance	1923849803	RCV001056755\|RCV001759806;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:CN517202	X	119673126	119673126	X:g.119673126A>G	-
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)	8450	CUL4B	Pathogenic	1057519396	RCV000417055;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119673181	119673182	NC_000023.10:g.119673181_119673182delTG	ClinGen:CA16044367	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)	8450	CUL4B	Pathogenic	121434615	RCV000012091\|RCV001564415;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:CN517202	X	119673204	119673204	X:g.119673204G>A	ClinGen:CA214661,UniProtKB:Q13620#VAR_032274,OMIM:300304.0001	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr)	8450	CUL4B	Uncertain significance	2147328768	RCV001785214;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119673213	119673213	119673213	-
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)	8450	CUL4B	Uncertain significance	1923919394	RCV001333139;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119674263	119674263	119674263	-
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)	8450	CUL4B	Uncertain significance	1923920343	RCV001330206;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119674273	119674273	119674273	-
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)	8450	CUL4B	Uncertain significance	2147329944	RCV001973470;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119674381	119674381	119674381	-
NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)	8450	CUL4B	Likely benign	-1	RCV003065717;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119674409	119674409		-
NM_001079872.2(CUL4B):c.1444-4T>G	8450	CUL4B	Likely benign	766196936	RCV002090038;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119674421	119674421	119674421	-
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)	8450	CUL4B	Likely pathogenic	1924000101	RCV001253208;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675472	119675472	X:g.119675472C>T	-
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)	8450	CUL4B	Likely pathogenic	-1	RCV002290058;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675477	119675477	119675476	-
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)	8450	CUL4B	Pathogenic	1556206910	RCV000627044;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675495	119675496	X:g.119675495_119675496del	ClinGen:CA658799848	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)	8450	CUL4B	Uncertain significance	-1	RCV002671244;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675501	119675501	NC_000023.10:g.119675501C>A	-
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)	8450	CUL4B	Likely pathogenic	905353542	RCV000824885;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675504	119675504	X:g.119675504G>A	-
NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)	8450	CUL4B	Likely benign	-1	RCV003074069;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675508	119675508		-
NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=)	8450	CUL4B	Likely benign	-1	RCV003016450;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675511	119675511		-
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)	8450	CUL4B	Pathogenic	1602577238	RCV000990935;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119675514	119675514	X:g.119675514_119675514del	-
NM_001079872.2(CUL4B):c.1324+15G>A	8450	CUL4B	Benign	143921252	RCV000430097\|RCV002058894\|RCV002379294;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MeSH:D030342,MedGen:C0950123	X	119676806	119676806	X:g.119676806C>T	ClinGen:CA10505550	CN169374 not specified;
NM_001079872.2(CUL4B):c.1324+9C>A	8450	CUL4B	Likely benign	751888920	RCV001398094;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119676812	119676812	119676812	-
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)	8450	CUL4B	Uncertain significance	757649304	RCV000503200\|RCV001857088\|RCV002383965;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MeSH:D030342,MedGen:C0950123	X	119676836	119676836	NC_000023.10:g.119676836C>T	ClinGen:CA10505554	CN169374 not specified;
NM_001079872.2(CUL4B):c.1257-9dup	8450	CUL4B	Benign/Likely benign	746854249	RCV000174083\|RCV001577597\|RCV002516613;	N	MedGen:CN169374\|MedGen:CN517202\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119676897	119676897	X:g.119676896_119676897insA	ClinGen:CA200824	CN169374 not specified;
NM_001079872.2(CUL4B):c.1257-9del	8450	CUL4B	Benign	746854249	RCV001515383\|RCV001712923;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:C3661900	X	119676897	119676897	119676896	-
NM_001079872.2(CUL4B):c.1257-19T>C	8450	CUL4B	Benign	201629851	RCV002113535;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119676907	119676907	119676907	-
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln)	8450	CUL4B	Uncertain significance	750866615	RCV000193656\|RCV002517928;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119677637	119677637	NC_000023.10:g.119677637T>G	ClinGen:CA207283	CN169374 not specified;
NM_001079872.2(CUL4B):c.1174-20G>A	8450	CUL4B	Benign	5957408	RCV001621898\|RCV002072937;	N	MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119677684	119677684	119677684	-
NM_001079872.2(CUL4B):c.1173+16G>A	8450	CUL4B	Likely benign	-1	RCV003047447;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119677953	119677953	NC_000023.10:g.119677953C>T	-
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)	8450	CUL4B	Benign/Likely benign	-1	RCV002353828\|RCV003098164;	N	MeSH:D030342,MedGen:C0950123\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119677978	119677978		-
NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser)	8450	CUL4B	Uncertain significance	1300720472	RCV002226979;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119677985	119677985	119677985	-
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)	8450	CUL4B	Uncertain significance	-1	RCV002962917;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678012	119678012	NC_000023.10:g.119678012C>T	-
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)	8450	CUL4B	Pathogenic	121434616	RCV000012092\|RCV000415116\|RCV003325302;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ont	X	119678034	119678034	X:g.119678034G>A	ClinGen:CA214662,OMIM:300304.0002	C0424503 Abnormal facial shape;
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg)	8450	CUL4B	Uncertain significance	1556213268	RCV000546039;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678036	119678036	X:g.119678036T>C	ClinGen:CA414198602	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1044T>C (p.Ser348=)	8450	CUL4B	Likely benign	-1	RCV002600911;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678375	119678375		-
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)	8450	CUL4B	Benign	-1	RCV003073270;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678389	119678389	NC_000023.10:g.119678389C>T	-
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)	8450	CUL4B	Uncertain significance	1924204795	RCV001089951;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678424	119678424	X:g.119678424A>G	-
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)	8450	CUL4B	Uncertain significance	-1	RCV003145928;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678431	119678431	NC_000023.10:g.119678431C>G	-
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)	8450	CUL4B	Uncertain significance	-1	RCV002289154;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678433	119678433	119678433	-
NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)	8450	CUL4B	Likely benign	-1	RCV003036588;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678435	119678435		-
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)	8450	CUL4B	Pathogenic	1085307760	RCV000489216\|RCV000590902;	N	MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678462	119678466	X:g.119678462_119678466del	ClinGen:CA645294134	CN517202 not provided;
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del)	8450	CUL4B	Uncertain significance	1556214312	RCV000640927\|RCV001771869;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:CN517202	X	119678463	119678465	X:g.119678463_119678465del	ClinGen:CA658799849	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)	8450	CUL4B	Likely benign	-1	RCV003114755;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678465	119678465		-
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)	8450	CUL4B	Uncertain significance	-1	RCV003066375;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678487	119678487	NC_000023.10:g.119678487A>T	-
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)	8450	CUL4B	Likely pathogenic	-1	RCV001270368;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119678496	119678498	NC_000023.10:g.119678496_119678498delinsGGT	-
NM_001079872.2(CUL4B):c.920+9G>A	8450	CUL4B	Uncertain significance	-1	RCV003145926;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119679290	119679290	NC_000023.10:g.119679290C>T	-
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)	8450	CUL4B	Uncertain significance	-1	RCV003148273;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119679308	119679308		-
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile)	8450	CUL4B	Uncertain significance	367660624	RCV000800231;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119679330	119679330	X:g.119679330C>T	-
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)	8450	CUL4B	Uncertain significance	866840262	RCV002273052;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119679338	119679338	119679338	-
NM_001079872.2(CUL4B):c.847-2A>G	8450	CUL4B	Pathogenic	786200913	RCV000012093;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119679374	119679374	NC_000023.10:g.119679374T>C	ClinGen:CA214664,OMIM:300304.0003	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.847-10del	8450	CUL4B	Benign/Likely benign	762094686	RCV000480729\|RCV000640929\|RCV001081350\|RCV002374884;	N	MedGen:CN169374\|MedGen:CN517202\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MeSH:D030342,MedGen:C0950123	X	119679382	119679382	X:g.119679382_119679382del	ClinGen:CA10505618	CN169374 not specified;
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met)	8450	CUL4B	Pathogenic	1379343211	RCV001528174;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680464	119680464	119680464	-
NM_001079872.2(CUL4B):c.783A>G (p.Ser261=)	8450	CUL4B	Likely benign	-1	RCV002922755;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680465	119680465		-
NM_001079872.2(CUL4B):c.777-12C>T	8450	CUL4B	Benign	192860595	RCV000609172\|RCV002062193;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680483	119680483	X:g.119680483G>A	ClinGen:CA10505635	CN169374 not specified;
NM_001079872.2(CUL4B):c.776+13A>G	8450	CUL4B	Likely benign	-1	RCV003063597;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680978	119680978	NC_000023.10:g.119680978T>C	-
NM_001079872.2(CUL4B):c.776+7dup	8450	CUL4B	Benign	200461872	RCV001713357\|RCV002073347;	N	MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680979	119680980	119680979	-
NM_001079872.2(CUL4B):c.776+12A>G	8450	CUL4B	Likely benign	-1	RCV002942044;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119680979	119680979	NC_000023.10:g.119680979T>C	-
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)	8450	CUL4B	Pathogenic	1556220623	RCV000622687\|RCV002531888;	N	MeSH:D030342,MedGen:C0950123\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119681046	119681046	NC_000023.10:g.119681046G>A	ClinGen:CA414201094	C0950123 Inborn genetic diseases;
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)	8450	CUL4B	Uncertain significance	-1	RCV002833715;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119681072	119681072	NC_000023.10:g.119681072T>A	-
NM_001079872.2(CUL4B):c.672+18T>C	8450	CUL4B	Likely benign	-1	RCV002853367;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119691761	119691761	NC_000023.10:g.119691761A>G	-
NM_001079872.2(CUL4B):c.557-11A>G	8450	CUL4B	Likely benign	-1	RCV002591832;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119691905	119691905	NC_000023.10:g.119691905T>C	-
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)	8450	CUL4B	Benign	-1	RCV002590238;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119693975	119693975		-
NM_001079872.2(CUL4B):c.510C>T (p.Asn170=)	8450	CUL4B	Likely benign	-1	RCV002756298;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119693984	119693984		-
NM_001079872.2(CUL4B):c.378A>C (p.Ser126=)	8450	CUL4B	Likely benign	-1	RCV002590553;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694116	119694116		-
NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del)	8450	CUL4B	Likely benign	754330779	RCV000640928\|RCV001467101;	N	MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694117	119694119	NC_000023.10:g.119694119GGA[5]	ClinGen:CA10505700	CN169374 not specified;
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)	8450	CUL4B	Conflicting interpretations of pathogenicity	754330779	RCV000599361\|RCV001045420;	N	MedGen:CN517202\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694117	119694125	X:g.119694117_119694125del	ClinGen:CA10505704	CN517202 not provided;
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)	8450	CUL4B	Benign	-1	RCV002664081;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694128	119694128		-
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)	8450	CUL4B	Uncertain significance	-1	RCV003333554;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694153	119694153		-
NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)	8450	CUL4B	Conflicting interpretations of pathogenicity	760294805	RCV000640926\|RCV001547950\|RCV002360568;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	119694175	119694175	X:g.119694175G>C	ClinGen:CA10505713	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)	8450	CUL4B	Uncertain significance	755306871	RCV000532515\|RCV001252215;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ont	X	119694200	119694200	X:g.119694200C>A	ClinGen:CA10505718	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)	8450	CUL4B	Uncertain significance	-1	RCV003338114;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694215	119694215		-
NM_001079872.2(CUL4B):c.270T>C (p.Ala90=)	8450	CUL4B	Likely benign	371312556	RCV002152520;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694224	119694224	119694224	-
NM_001079872.2(CUL4B):c.243G>T (p.Ser81=)	8450	CUL4B	Likely benign	-1	RCV003046331;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694251	119694251		-
NM_001079872.2(CUL4B):c.228A>G (p.Ala76=)	8450	CUL4B	Likely benign	972696850	RCV001486326;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694266	119694266	119694266	-
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)	8450	CUL4B	Uncertain significance	-1	RCV002571971;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694270	119694270	NC_000023.10:g.119694270G>A	-
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)	8450	CUL4B	Uncertain significance	-1	RCV002856542;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694306	119694306	NC_000023.10:g.119694306G>A	-
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)	8450	CUL4B	Likely pathogenic	-1	RCV003387585;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694312	119694313		-
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)	8450	CUL4B	Uncertain significance	2147350219	RCV001976148;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694330	119694330	119694330	-
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)	8450	CUL4B	Uncertain significance	-1	RCV002573109;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694347	119694348	NC_000023.10:g.119694350GCT[3]	-
NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly)	8450	CUL4B	Likely benign	145134351	RCV001394022;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694355	119694355	NC_000023.10:g.119694355T>C	-	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)	8450	CUL4B	Pathogenic	869320682	RCV000190825;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694399	119694399	X:g.119694399G>A	ClinGen:CA358848,OMIM:300304.0006	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)	8450	CUL4B	Uncertain significance	-1	RCV002979334;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694418	119694418	NC_000023.10:g.119694418C>T	-
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser)	8450	CUL4B	Uncertain significance	757541076	RCV000558589;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694431	119694431	NC_000023.10:g.119694431T>A	ClinGen:CA10505743	C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)	8450	CUL4B	Uncertain significance	1199433297	RCV001232844;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694441	119694441	X:g.119694441T>C	-
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr)	8450	CUL4B	Uncertain significance	1925231122	RCV001330207;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694451	119694451	119694451	-
NM_003588.4(CUL4B):c.67+10T>C	8450	CUL4B	Conflicting interpretations of pathogenicity	-1	RCV002367165\|RCV003098338;	N	MeSH:D030342,MedGen:C0950123\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119708396	119708396	119708396	-
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)	8450	CUL4B	Benign/Likely benign	145808703	RCV000608920\|RCV002060618\|RCV003456419;	N	MedGen:CN169374\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MedGen:C3661900	X	119708408	119708408	X:g.119708408C>T	ClinGen:CA10505798	CN169374 not specified;
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)	8450	CUL4B	Uncertain significance	2147360370	RCV002273249;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119708444	119708444	119708444	-
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)	8450	CUL4B	Benign/Likely benign	149016283	RCV000417477\|RCV001572672\|RCV002059696\|RCV002436312;	N	MedGen:CN169374\|MedGen:C3661900\|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293\|MeSH:D030342,MedGen:C0950123	X	119708447	119708447	X:g.119708447C>T	ClinGen:CA10505805	CN169374 not specified;
NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)	8450	CUL4B	Uncertain significance	-1	RCV002569534;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119708468	119708468	NC_000023.10:g.119708468A>G	-
NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)	-1	CUL4B;LOC113845788	Uncertain significance	-1	RCV003412547;	N	Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293	X	119694297	119694297		-

MSeqDR Portal

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