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Hello! Guest! Please Login or Register! Clinician Mode

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: DNA Repair-Deficiency Disorders (D049914)
Parent Node: Photosensitivity Disorders (D010787)
Parent Node: Pigmentation Disorders (D010859)
Parent Node: Precancerous Conditions (D011230)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Xeroderma Pigmentosum (D014983)
Child Nodes:
........De Sanctis-Cacchione syndrome (C535992)
........Trichothiodystrophy, Type 1 (C564734)
........Xeroderma Pigmentosum B-Cockayne Syndrome (C567061)
........Xeroderma Pigmentosum IX (C564731)
........Xeroderma Pigmentosum, Autosomal Dominant, Mild (C565989)
........Xeroderma Pigmentosum, Complementation Group B (C562590)
........Xeroderma Pigmentosum, Complementation Group C (C567886)
........Xeroderma Pigmentosum, Complementation Group D (C562591)
........Xeroderma Pigmentosum, Complementation Group E (C564732)
........Xeroderma Pigmentosum, Complementation Group F (C562592)
........Xeroderma Pigmentosum, Complementation Group G (C562593)
........Xeroderma pigmentosum, type 9 (C536765)
........Xeroderma Pigmentosum, Type G-Cockayne Syndrome (C566879)
........Xeroderma pigmentosum, variant type (C536766)
........XFE Progeroid Syndrome (C567043)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..Dowling-Degos Disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144 C:1
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12917

Name:

Xeroderma Pigmentosum

Definition:

A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.

Alternative IDs:

DO:DOID:0050427|OMIM:278700

ParentIDs:

TreeNumbers:

C04.834.867 |C16.131.831.936 |C16.320.850.970 |C17.800.600.925 |C17.800.621.936 |C17.800.804.936 |C17.800.827.970 |C18.452.284.975

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: D014983
MeSH: D014983
OMIM: 278700;
MSeqDR :
Genes: XPA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0001266	Choreoathetosis
4	HP:0000509	Conjunctivitis
5	HP:0000992	Cutaneous photosensitivity
6	HP:0003079	Defective DNA repair after ultraviolet radiation damage
7	HP:0004334	Dermal atrophy
8	HP:0000656	Ectropion
9	HP:0000621	Entropion
10	HP:0001265	Hyporeflexia
11	HP:0001249	Intellectual disability
12	HP:0000491	Keratitis
13	HP:0001268	Mental deterioration
14	HP:0000252	Microcephaly
15	HP:0000613	Photophobia
16	HP:0001029	Poikiloderma
17	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
18	HP:0001257	Spasticity NAMDC: Spasticity
19	HP:0001009	Telangiectasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000380.4(XPA):c.*439G>C	7507	XPA	Uncertain significance	rs548728905	RCV001168954;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437282	100437282	C	G	9:g.100437282C>G	-
NM_000380.4(XPA):c.*428T>C	7507	XPA	Uncertain significance	rs143474170	RCV000365861;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437293	100437293	A	G	9:g.100437293A>G	ClinGen:CA10634627	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*278T>C	7507	XPA	Benign	rs3176753	RCV000390745\|RCV001672709;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437443	100437443	A	G	NC_000009.11:g.100437443A>G	ClinGen:CA5148630	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*256G>C	7507	XPA	Uncertain significance	rs886063215	RCV000312878;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437465	100437465	C	G	NC_000009.11:g.100437465C>G	ClinGen:CA10634274	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*236G>A	7507	XPA	Uncertain significance	rs1828314205	RCV001166056;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437485	100437485	C	T	9:g.100437485C>T	-
NM_000380.4(XPA):c.*234C>A	7507	XPA	Benign	rs3176752	RCV000277679\|RCV001618665;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437487	100437487	G	T	NC_000009.11:g.100437487G>T	ClinGen:CA5148635	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*203C>G	7507	XPA	Benign	rs3176751	RCV000332786\|RCV001662345;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437518	100437518	G	C	NC_000009.11:g.100437518G>C	ClinGen:CA5148636	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*178A>C	7507	XPA	Uncertain significance	rs963196708	RCV001166057;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437543	100437543	T	G	9:g.100437543T>G	-
NM_000380.4(XPA):c.*77C>A	7507	XPA	Uncertain significance	rs886063216	RCV000354649;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437644	100437644	G	T	NC_000009.11:g.100437644G>T	ClinGen:CA10627771	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.*54T>C	7507	XPA	Uncertain significance	rs557709427	RCV001166525;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437667	100437667	A	G	9:g.100437667A>G	-
NM_000380.4(XPA):c.817dup (p.Met273fs)	7507	XPA	Uncertain significance	rs754458042	RCV000674725;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437725	100437726	A	AT	9:g.100437725_100437726insT	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)	7507	XPA	Uncertain significance	rs1554699256	RCV000674574;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437733	100437734	CAT	C	9:g.100437733_100437734del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	7507	XPA	Pathogenic/Likely pathogenic	rs778543124	RCV000667095\|RCV001291566;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437758	100437771	AGTACAAGTCTTACG	A	9:g.100437758_100437771del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.774dup (p.Lys259Ter)	7507	XPA	Likely pathogenic	rs752573039	RCV000674229;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437768	100437769	T	TA	9:g.100437768_100437769insA	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.774T>A (p.Arg258=)	7507	XPA	Conflicting interpretations of pathogenicity	rs746694561	RCV000913206\|RCV001166526;	N	MedGen:CN517202\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437769	100437769	A	T	9:g.100437769A>T	-
NM_000380.4(XPA):c.772C>T (p.Arg258Cys)	7507	XPA	Uncertain significance	rs188860873	RCV000122320\|RCV001166527;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437771	100437771	G	A	9:g.100437771G>A	ClinGen:CA162844	CN169374 not specified;
NM_000380.4(XPA):c.766A>G (p.Met256Val)	7507	XPA	Benign/Likely benign	rs57519506	RCV000122318\|RCV000260012\|RCV000861170;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437777	100437777	T	C	9:g.100437777T>C	ClinGen:CA162838,UniProtKB:P23025#VAR_061987	CN169374 not specified;
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)	7507	XPA	Uncertain significance	rs758358436	RCV000668503;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437782	100437784	ATCT	A	9:g.100437782_100437784del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.754C>G (p.Leu252Val)	7507	XPA	Benign/Likely benign	rs3176750	RCV000122319\|RCV000319809\|RCV000860760;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437789	100437789	G	C	9:g.100437789G>C	ClinGen:CA162841,UniProtKB:P23025#VAR_020324	CN169374 not specified;
NM_000380.4(XPA):c.732dup (p.Glu245Ter)	7507	XPA	Pathogenic/Likely pathogenic	rs1554699296	RCV000667814\|RCV001388621;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437810	100437811	C	CA	9:g.100437810_100437811insA	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.731A>G (p.His244Arg)	7507	XPA	Uncertain significance	rs144725456	RCV000668335;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437812	100437812	T	C	NC_000009.11:g.100437812T>C	ClinGen:CA5148691,UniProtKB:P23025#VAR_007731	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)	7507	XPA	Uncertain significance	rs1554699326	RCV000671297;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437848	100437850	GCTT	G	9:g.100437848_100437850del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.683G>A (p.Arg228Gln)	7507	XPA	Uncertain significance	rs1805160	RCV000122321\|RCV000665473;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100437860	100437860	C	T	9:g.100437860C>T	ClinGen:CA162847,UniProtKB:P23025#VAR_014799	CN169374 not specified;
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	7507	XPA	Pathogenic	rs104894132	RCV000001050\|RCV000781924\|RCV000815514;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910\|MedGen:CN517202	9	100437861	100437861	G	A	9:g.100437861G>A	ClinGen:CA251650,OMIM:611153.0004	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.677T>A (p.Leu226Ter)	7507	XPA	Pathogenic/Likely pathogenic	rs1554699334	RCV000670364\|RCV001035389;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100437866	100437866	A	T	9:g.100437866A>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.673+2T>C	7507	XPA	Likely pathogenic	rs1019535182	RCV000674401;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447203	100447203	A	G	9:g.100447203A>G	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.666dup (p.Val223fs)	7507	XPA	Pathogenic/Likely pathogenic	rs1554701103	RCV000668902\|RCV000781922\|RCV001230774;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910\|MedGen:CN517202	9	100447211	100447212	C	CT	9:g.100447211_100447212insT	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.651G>T (p.Lys217Asn)	7507	XPA	Uncertain significance	-1	RCV001761800;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447227	100447227	C	A	100447227	-
NM_000380.4(XPA):c.648_649del (p.Lys217fs)	7507	XPA	Pathogenic	rs1057519018	RCV000415712\|RCV001865309;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100447229	100447230	TTC	T	9:g.100447229_100447230del	ClinGen:CA16043982	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.642_645dup (p.Gln216fs)	7507	XPA	Pathogenic/Likely pathogenic	rs764582394	RCV000674093\|RCV001868278;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100447232	100447233	G	GTTTC	9:g.100447232_100447233insTTTC	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.646C>T (p.Gln216Ter)	7507	XPA	Pathogenic/Likely pathogenic	rs761978351	RCV000669338\|RCV001855518;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100447232	100447232	G	A	9:g.100447232G>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.631dup (p.Arg211fs)	7507	XPA	Likely pathogenic	rs1554701129	RCV000670038;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447246	100447247	C	CG	9:g.100447246_100447247insG	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	7507	XPA	Pathogenic/Likely pathogenic	rs149226993	RCV000666956\|RCV001045901\|RCV000781923;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910	9	100447247	100447247	G	A	9:g.100447247G>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.620G>A (p.Arg207Gln)	7507	XPA	Uncertain significance	-1	RCV001761801;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447258	100447258	C	T	100447258	-
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	7507	XPA	Pathogenic	rs104894133	RCV000001051\|RCV000657642\|RCV001420782;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910	9	100447259	100447259	G	A	9:g.100447259G>A	ClinGen:CA251653,OMIM:611153.0005	CN517202 not provided;
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup)	7507	XPA	Uncertain significance	rs1554701135	RCV000670857;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447268	100447269	T	TTGCTTCTTCTAA	9:g.100447268_100447269insTGCTTCTTCTAA	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.601_602del (p.Glu201fs)	7507	XPA	Likely pathogenic	rs1554701139	RCV000672325;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447276	100447277	TTC	T	9:g.100447276_100447277del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.599T>G (p.Leu200Ter)	7507	XPA	Likely pathogenic	rs755803064	RCV000674552;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447279	100447279	A	C	9:g.100447279A>C	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.572_573del (p.Leu191fs)	7507	XPA	Likely pathogenic	rs1554701144	RCV000671796;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447305	100447306	CAA	C	9:g.100447305_100447306del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.571C>G (p.Leu191Val)	7507	XPA	Conflicting interpretations of pathogenicity	rs562768588	RCV000122316\|RCV000665704\|RCV000930543;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100447307	100447307	G	C	9:g.100447307G>C	ClinGen:CA162832	CN169374 not specified;
NM_000380.4(XPA):c.568T>G (p.Ser190Ala)	7507	XPA	Likely benign	rs555812588	RCV000122317\|RCV000284878\|RCV000907023;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100447310	100447310	A	C	9:g.100447310A>C	ClinGen:CA162835	CN169374 not specified;
NM_000380.4(XPA):c.563del (p.Lys188fs)	7507	XPA	Likely pathogenic	rs1554701152	RCV000674742;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100447315	100447315	CT	C	9:g.100447315_100447315del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.555+2T>A	7507	XPA	Likely pathogenic	rs1554701478	RCV000668662;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449376	100449376	A	T	9:g.100449376A>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.555+1G>A	7507	XPA	Likely pathogenic	rs1554701481	RCV000670923;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449377	100449377	C	T	9:g.100449377C>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.555G>C (p.Gln185His)	7507	XPA	Pathogenic/Likely pathogenic	rs746617574	RCV000665444\|RCV001174635\|RCV001855442;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910\|MedGen:CN517202	9	100449378	100449378	C	G	9:g.100449378C>G	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.553C>T (p.Gln185Ter)	7507	XPA	Pathogenic	rs1828741490	RCV001172311\|RCV001386670;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100449380	100449380	G	A	9:g.100449380G>A	-
NM_000380.4(XPA):c.548del (p.Lys183fs)	7507	XPA	Likely pathogenic	rs1554701488	RCV000665796;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449385	100449385	CT	C	9:g.100449385_100449385del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs)	7507	XPA	Pathogenic	rs786205205	RCV000170428;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449387	100449388	T	TTA	9:g.100449387_100449388insTA	ClinGen:CA274751	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.532dup (p.Met178fs)	7507	XPA	Likely pathogenic	rs1326841833	RCV000673845;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449400	100449401	A	AT	9:g.100449400_100449401insT	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.494T>C (p.Ile165Thr)	7507	XPA	Uncertain significance	rs1828743987	RCV001166528;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449439	100449439	A	G	9:g.100449439A>G	-
NM_000380.4(XPA):c.476_477del (p.Glu159fs)	7507	XPA	Likely pathogenic	rs781195170	RCV000671391;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449456	100449457	GCT	G	9:g.100449456_100449457del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.472dup (p.Arg158fs)	7507	XPA	Likely pathogenic	rs1554701520	RCV000670758;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449460	100449461	C	CT	9:g.100449460_100449461insT	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer)	7507	XPA	Pathogenic/Likely pathogenic	rs1240801740	RCV000670444\|RCV001385775;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100449473	100449474	TCA	T	9:g.100449473_100449474del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.460G>C (p.Asp154His)	7507	XPA	Uncertain significance	-1	RCV001761802;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449473	100449473	C	G	100449473	-
NM_000380.4(XPA):c.452A>G (p.Lys151Arg)	7507	XPA	Uncertain significance	rs983722547	RCV001168272;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449481	100449481	T	C	9:g.100449481T>C	-
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)	7507	XPA	Likely pathogenic	rs1554701532	RCV000669539;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449482	100449482	T	A	9:g.100449482T>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.438_443del (p.Gln146_Tyr148delinsHis)	7507	XPA	Likely pathogenic	rs1564045331	RCV000754105;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449490	100449495	ATATTCT	A	NC_000009.11:g.100449491_100449496del	-
NM_000380.4(XPA):c.439_441del (p.Glu147del)	7507	XPA	Uncertain significance	rs1554701535	RCV000666912;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449492	100449494	ATTC	A	9:g.100449492_100449494del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.428_429del (p.Glu143fs)	7507	XPA	Pathogenic/Likely pathogenic	rs1554701540	RCV000670791\|RCV001861798;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100449504	100449505	CCT	C	9:g.100449504_100449505del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del)	7507	XPA	Uncertain significance	rs1554701553	RCV000674693;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449531	100449533	TATC	T	9:g.100449531_100449533del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.391del (p.Asp131fs)	7507	XPA	Likely pathogenic	rs1554701563	RCV000673546;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100449542	100449542	TC	T	9:g.100449542_100449542del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.390-1G>C	7507	XPA	Pathogenic	rs750218942	RCV000246304\|RCV001063951\|RCV001255518;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910	9	100449544	100449544	C	G	9:g.100449544C>G	ClinGen:CA5148823,OMIM:611153.0001	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.389+1G>A	7507	XPA	Likely pathogenic	rs1554701931	RCV000673551;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451815	100451815	C	T	9:g.100451815C>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)	7507	XPA	Uncertain significance	rs1324310300	RCV000666137;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451816	100451816	C	T	9:g.100451816C>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	7507	XPA	Uncertain significance	rs1451780491	RCV000668799;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451827	100451827	A	C	9:g.100451827A>C	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.374del (p.Thr125fs)	7507	XPA	Pathogenic	rs1828818571	RCV001172312;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451831	100451831	AG	A	9:g.100451831_100451831del	-
NM_000380.4(XPA):c.349_353del (p.Leu117fs)	7507	XPA	Pathogenic	rs1200172747	RCV000001049\|RCV000780797\|RCV001057886;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910\|MedGen:CN517202	9	100451852	100451856	CATAAG	C	9:g.100451852_100451856del	ClinGen:CA589324705,OMIM:611153.0003	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter)	7507	XPA	Pathogenic	rs104894134	RCV000001052;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451857	100451857	A	T	9:g.100451857A>T	OMIM:611153.0006,ClinGen:CA251656	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.344_346del (p.Ser115del)	7507	XPA	Uncertain significance	rs1554701942	RCV000672670;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451859	100451861	TAAG	T	9:g.100451859_100451861del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.338_339del (p.Met113fs)	7507	XPA	Pathogenic/Likely pathogenic	rs748286715	RCV000668826\|RCV001855507;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100451866	100451867	CCA	C	9:g.100451866_100451867del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer)	7507	XPA	Pathogenic	rs886039226	RCV000254511;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451867	100451870	ATAA	TTTCTTATG	9:g.100451867_100451868insTTCTTATG	ClinGen:CA10587998	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)	7507	XPA	Pathogenic	rs769255883	RCV000674100\|RCV001194216\|RCV001230906;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910\|MedGen:CN517202	9	100451874	100451874	C	A	9:g.100451874C>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	7507	XPA	Uncertain significance	rs104894131	RCV000001048;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451882	100451882	C	A	9:g.100451882C>A	UniProtKB:P23025#VAR_007728,OMIM:611153.0002,ClinGen:CA251648	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	7507	XPA	Conflicting interpretations of pathogenicity	rs104894131	RCV000492893\|RCV000672811;	N	MedGen:CN517202\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451882	100451882	C	T	9:g.100451882C>T	ClinGen:CA374187825	CN517202 not provided;
NM_000380.4(XPA):c.289G>A (p.Val97Ile)	7507	XPA	Benign/Likely benign	rs10983315	RCV000903901\|RCV001168273;	N	MedGen:CN517202\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100451916	100451916	C	T	9:g.100451916C>T	-
NM_000380.4(XPA):c.283+1_283+6del	7507	XPA	Likely pathogenic	rs1554702597	RCV000670391;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100455925	100455930	ACTTTAC	A	9:g.100455925_100455930del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del)	7507	XPA	Uncertain significance	rs3176652	RCV000670938;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100455962	100455967	GTTCTTC	G	9:g.100455962_100455967del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del)	7507	XPA	Uncertain significance	rs1554702607	RCV000670368;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100455972	100455977	TTCTTCC	T	9:g.100455972_100455977del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.235G>T (p.Glu79Ter)	7507	XPA	Likely pathogenic	rs1554702608	RCV000671257;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100455979	100455979	C	A	9:g.100455979C>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.197del (p.Pro66fs)	7507	XPA	Likely pathogenic	rs1554702629	RCV000671795;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100456017	100456017	TG	T	9:g.100456017_100456017del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.172+11C>T	7507	XPA	Likely benign	rs766386535	RCV000380374;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459392	100459392	G	A	NC_000009.11:g.100459392G>A	ClinGen:CA5148902	C0043346 Xeroderma pigmentosum;
NM_000380.4(XPA):c.172+2T>G	7507	XPA	Pathogenic	rs1587755557	RCV000001053;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459401	100459401	A	C	9:g.100459401A>C	OMIM:611153.0007	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.172+1G>T	7507	XPA	Likely pathogenic	rs1554703119	RCV000672997;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459402	100459402	C	A	9:g.100459402C>A	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.172+1G>A	7507	XPA	Likely pathogenic	rs1554703119	RCV000667207\|RCV001855476;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100459402	100459402	C	T	9:g.100459402C>T	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.152C>G (p.Thr51Arg)	7507	XPA	Uncertain significance	-1	RCV001761803;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459423	100459423	G	C	100459423	-
NM_000380.4(XPA):c.122C>T (p.Ala41Val)	7507	XPA	Uncertain significance	-1	RCV001761804;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459453	100459453	G	A	100459453	-
NM_000380.4(XPA):c.110T>A (p.Met37Lys)	7507	XPA	Uncertain significance	-1	RCV001761805;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459465	100459465	A	T	100459465	-
NM_000380.4(XPA):c.47A>G (p.Gln16Arg)	7507	XPA	Uncertain significance	rs756527969	RCV001168274;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459528	100459528	T	C	9:g.100459528T>C	-
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del)	7507	XPA	Uncertain significance	rs755109935	RCV000671878;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459537	100459563	AGCCGCCGCCTCCGGCAAAGCCCCGTCG	A	9:g.100459537_100459563del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del)	7507	XPA	Likely pathogenic	rs1554703183	RCV000672862;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459549	100459578	CGGCAAAGCCCCGTCGGCCGCCGCCATCTCT	C	9:g.100459549_100459578del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.13G>T (p.Asp5Tyr)	7507	XPA	Uncertain significance	rs574504791	RCV001168275;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459562	100459562	C	A	9:g.100459562C>A	-
NM_000380.4(XPA):c.10del (p.Ala4fs)	7507	XPA	Pathogenic/Likely pathogenic	rs779161471	RCV000666403\|RCV000809436;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100459565	100459565	GC	G	NC_000009.11:g.100459566del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.2T>C (p.Met1Thr)	7507	XPA	Likely pathogenic	rs1253496792	RCV000666994;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459573	100459573	A	G	9:g.100459573A>G	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_000380.4(XPA):c.-4A>G	7507	XPA	Benign	rs1800975	RCV000170427\|RCV000286055\|RCV001509817;	N	MedGen:CN169374\|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910\|MedGen:CN517202	9	100459578	100459578	T	C	9:g.100459578T>C	ClinGen:CA199614	CN169374 not specified;
NM_000380.4(XPA):c.-43G>A	7507	XPA	Uncertain significance	rs886063217	RCV000674155;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459617	100459617	C	T	NC_000009.11:g.100459617C>T	ClinGen:CA10630695	C0043346 Xeroderma pigmentosum;
NM_000380.3(XPA):c.-72_-47del	7507	XPA	Uncertain significance	rs1249073186	RCV000672399;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459621	100459646	ACTGCACGCCGAGGCGAGCCAGCCGCC	A	9:g.100459621_100459646del	-	C0268135 278700 Xeroderma pigmentosum, type 1;
NM_001354975.1(XPA):c.-1199G>T	7507	XPA	Uncertain significance	rs1237254220	RCV001169010;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459624	100459624	C	A	9:g.100459624C>A	-
NM_000380.3(XPA):c.-66T>G	7507	XPA	Uncertain significance	rs886063218	RCV000669719;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459640	100459640	A	C	NC_000009.11:g.100459640A>C	ClinGen:CA10634281	C0043346 Xeroderma pigmentosum;
NM_000380.3(XPA):c.-74A>C	7507	XPA	Uncertain significance	rs3176631	RCV000292108;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459648	100459648	T	G	9:g.100459648T>G	ClinGen:CA5148980	C0043346 Xeroderma pigmentosum;
NM_000380.3(XPA):c.-88C>A	7507	XPA	Uncertain significance	rs371959589	RCV000347034;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	9	100459662	100459662	G	T	9:g.100459662G>T	ClinGen:CA5148987	C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.2034-1G>A	7508	XPC	Likely pathogenic	rs869025275	RCV000207299;	N	MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910	3	14193917	14193917	C	T	NC_000003.11:g.14193917C>T	ClinGen:CA353867	C0268135 278700 Xeroderma pigmentosum, type 1;

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