MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Autoimmune Diseases (D001327)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
Child Nodes:
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2763

Name:

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

Definition:

Alternative IDs:

OMIM:607944

ParentIDs:

MESH:D001327|MESH:D007153|MESH:D010009

TreeNumbers:

C05.116.099.708/C564307 |C16.320.728/C564307 |C20.111/C564307 |C20.673/C564307

Synonyms:

COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA |ROIFMAN IMMUNOSKELETAL SYNDROME |SPENCD |SPENCDI |Spondyloenchondrodysplasia with Immune Dysregulation

Slim Mappings:

Genetic disease (inborn)|Immune system disease|Musculoskeletal disease

Reference:

MedGen: C564307
MeSH: C564307
OMIM: 607944;
MSeqDR :
Genes: ACP5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001973	Autoimmune thrombocytopenia
3	HP:0003621	Juvenile onset
4	HP:0005374	Cellular immunodeficiency
5	HP:0005387	Combined immunodeficiency
6	HP:0005403	Decrease in T cell count
7	HP:0001034	Hypermelanotic macule
8	HP:0007526	Hypopigmented skin patches on arms
9	HP:0000821	Hypothyroidism NAMDC: Hypothyroidism
10	HP:0002958	Immune dysregulation
11	HP:0001256	Intellectual disability, mild	HP:0040283
12	HP:0003301	Irregular vertebral endplates
13	HP:0002751	Kyphoscoliosis
14	HP:0000369	Low-set ears
15	HP:0002938	Lumbar hyperlordosis
16	HP:0002716	Lymphadenopathy
17	HP:0003025	Metaphyseal irregularity
18	HP:0004979	Metaphyseal sclerosis
19	HP:0000460	Narrow nose
20	HP:0000926	Platyspondyly
21	HP:0002090	Pneumonia
22	HP:0002478	Progressive spastic quadriplegia
23	HP:0000979	Purpura
24	HP:0000403	Recurrent otitis media
25	HP:0002205	Recurrent respiratory infections
26	HP:0011108	Recurrent sinusitis
27	HP:0002091	Restrictive ventilatory defect
28	HP:0001370	Rheumatoid arthritis
29	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
30	HP:0001264	Spastic diplegia
31	HP:0002657	Spondylometaphyseal dysplasia
32	HP:0005576	Tubulointerstitial fibrosis
33	HP:0001045	Vitiligo

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000019.10:g.(?_11574990)_(11577337_?)dup	54	ACP5	Uncertain significance	-1	RCV001031628;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685805	11688152	-1	-
NC_000019.9:g.(?_11685805)_(11688152_?)del	54	ACP5	Pathogenic	-1	RCV001385269;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685805	11688152	-1	-
NC_000019.9:g.(?_11685825)_(11688132_?)del	54	ACP5	Pathogenic	-1	RCV003105414;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685825	11688132		-
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)	54	ACP5	Uncertain significance	-1	RCV002852529;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685827	11685827	NC_000019.9:g.11685827A>G	-
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser)	54	ACP5	Uncertain significance	1024960552	RCV001908927;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685830	11685830	11685830	-
NM_001611.5(ACP5):c.971G>T (p.Arg324Met)	54	ACP5	Uncertain significance	145265651	RCV000813227;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685832	11685832	19:g.11685832C>A	-
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)	54	ACP5	Uncertain significance	145265651	RCV000819431;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685832	11685832	19:g.11685832C>T	-
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)	54	ACP5	Uncertain significance	-1	RCV002736504;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685833	11685833	NC_000019.9:g.11685833T>C	-
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln)	54	ACP5	Uncertain significance	149133430	RCV001966400;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685838	11685838	11685838	-
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)	54	ACP5	Uncertain significance	146436811	RCV001052020;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685839	11685839	19:g.11685839G>A	-
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly)	54	ACP5	Uncertain significance	146436811	RCV001937447;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685839	11685839	11685839	-
NM_001611.5(ACP5):c.963G>A (p.Arg321=)	54	ACP5	Likely benign	2145080770	RCV002206710;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685840	11685840	11685840	-
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu)	54	ACP5	Uncertain significance	745604493	RCV001975827;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685844	11685844	11685844	-
NM_001611.5(ACP5):c.955C>T (p.Leu319=)	54	ACP5	Benign	141909893	RCV000884132;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685848	11685848	19:g.11685848G>A	-
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)	54	ACP5	Uncertain significance	375523195	RCV001054493;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685853	11685853	19:g.11685853G>C	-
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)	54	ACP5	Uncertain significance	-1	RCV002915059;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685854	11685854	NC_000019.9:g.11685854T>C	-
NM_001611.5(ACP5):c.930G>A (p.Ser310=)	54	ACP5	Likely benign	-1	RCV002750523;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685873	11685873		-
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)	54	ACP5	Uncertain significance	-1	RCV003090423;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685881	11685881	NC_000019.9:g.11685881C>T	-
NM_001611.5(ACP5):c.921C>G (p.Ile307Met)	54	ACP5	Uncertain significance	763811862	RCV000803657;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685882	11685882	19:g.11685882G>C	-
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)	54	ACP5	Uncertain significance	-1	RCV002299387;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685883	11685883	11685883	-
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe)	54	ACP5	Uncertain significance	1483232010	RCV001318436;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685884	11685884	11685884	-
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile)	54	ACP5	Uncertain significance	2145081185	RCV001370822;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685889	11685889	11685889	-
NM_001611.5(ACP5):c.909T>C (p.Thr303=)	54	ACP5	Likely benign	2145081214	RCV002208652;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685894	11685894	11685894	-
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)	54	ACP5	Uncertain significance	-1	RCV002705340;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685901	11685901	NC_000019.9:g.11685901T>C	-
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp)	54	ACP5	Uncertain significance	913182619	RCV001359991;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685931	11685931	11685931	-
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg)	54	ACP5	Uncertain significance	752091275	RCV001954929;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685932	11685932	11685932	-
NM_001611.5(ACP5):c.870T>C (p.Gly290=)	54	ACP5	Likely benign	-1	RCV002832930;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685933	11685933		-
NM_001611.5(ACP5):c.861C>T (p.Asp287=)	54	ACP5	Benign	147115345	RCV000640595;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685942	11685942	19:g.11685942G>A	ClinGen:CA9215301	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)	54	ACP5	Likely benign	62638748	RCV000966327;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685943	11685943	19:g.11685943T>G	-
NM_001611.5(ACP5):c.855T>C (p.Thr285=)	54	ACP5	Benign	77911902	RCV000548882\|RCV001653895;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11685948	11685948	19:g.11685948A>G	ClinGen:CA9215303	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile)	54	ACP5	Uncertain significance	1369048725	RCV002039500;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685949	11685949	11685949	-
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu)	54	ACP5	Uncertain significance	1973079948	RCV001344053;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685952	11685952	11685952	-
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys)	54	ACP5	Uncertain significance	931778512	RCV002029191;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685955	11685955	11685955	-
NM_001611.5(ACP5):c.846C>G (p.His282Gln)	54	ACP5	Uncertain significance	749645391	RCV000813226;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685957	11685957	19:g.11685957G>C	-
NM_001611.5(ACP5):c.839G>A (p.Arg280His)	54	ACP5	Uncertain significance	771458690	RCV001325726;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685964	11685964	11685964	-
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)	54	ACP5	Uncertain significance	774428695	RCV001233695;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685965	11685965	19:g.11685965G>A	-
NM_001611.5(ACP5):c.831_833del (p.Tyr278del)	54	ACP5	Uncertain significance	387906671	RCV000022710;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685970	11685972	19:g.11685970_11685972del	ClinGen:CA128680,OMIM:171640.0006	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.832T>C (p.Tyr278His)	54	ACP5	Uncertain significance	1248410622	RCV001984307;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685971	11685971	11685971	-
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)	54	ACP5	Uncertain significance	377528244	RCV000792697;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685974	11685974	19:g.11685974C>T	-
NM_001611.5(ACP5):c.828C>T (p.Asn276=)	54	ACP5	Likely benign	371003771	RCV000930104;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685975	11685975	19:g.11685975G>A	-
NM_001611.5(ACP5):c.825C>A (p.Pro275=)	54	ACP5	Likely benign	760569679	RCV002201129;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685978	11685978	11685978	-
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)	54	ACP5	Uncertain significance	1973082559	RCV001223563;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685979	11685979	19:g.11685979G>A	-
NM_001611.5(ACP5):c.816dup (p.Lys273fs)	54	ACP5	Pathogenic	879255600	RCV000210950;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685986	11685987	19:g.11685986_11685987insG	ClinGen:CA10576049,OMIM:171640.0009	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.815G>A (p.Arg272His)	54	ACP5	Uncertain significance	150107007	RCV001243646;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685988	11685988	19:g.11685988C>T	-
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)	54	ACP5	Conflicting interpretations of pathogenicity	147025508	RCV000179812\|RCV000514245\|RCV000537794;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685989	11685989	19:g.11685989G>A	ClinGen:CA203459	CN517202 not provided;
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)	54	ACP5	Uncertain significance	749985898	RCV001940932\|RCV002561411;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11685997	11685997	11685997	-
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)	54	ACP5	Uncertain significance	199986980	RCV000792233\|RCV002280141;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11685998	11685998	19:g.11685998G>A	-
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn)	54	ACP5	Uncertain significance	1973084550	RCV001345677;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11685999	11685999	11685999	-
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)	54	ACP5	Uncertain significance	-1	RCV003084681;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686001	11686001	NC_000019.9:g.11686001T>C	-
NM_001611.5(ACP5):c.799del (p.Ser267fs)	54	ACP5	Pathogenic	1294990891	RCV001942203;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686004	11686004	11686003	-
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)	54	ACP5	Likely pathogenic	387906670	RCV000022707;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686012	11686012	19:g.11686012A>T	ClinGen:CA128678,UniProtKB:P13686#VAR_065927,OMIM:171640.0003	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	54	ACP5	Likely pathogenic	878853218	RCV000210955;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686013	11686031	NC_000019.9:g.11686013_11686031del	ClinGen:CA10576050,OMIM:171640.0010	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.783G>A (p.Gly261=)	54	ACP5	Likely benign	141519703	RCV002189665;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686020	11686020	11686020	-
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)	54	ACP5	Uncertain significance	2145082191	RCV002030751;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686022	11686022	11686022	-
NM_001611.5(ACP5):c.780T>C (p.Ala260=)	54	ACP5	Likely benign	2145082207	RCV002085278;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686023	11686023	11686023	-
NM_001611.5(ACP5):c.777G>T (p.Gly259=)	54	ACP5	Likely benign	368442469	RCV002150230;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686026	11686026	11686026	-
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg)	54	ACP5	Uncertain significance	2145082240	RCV001881717;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686028	11686028	11686028	-
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)	54	ACP5	Uncertain significance	146196342	RCV000795826;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686037	11686037	19:g.11686037C>G	-
NM_001611.5(ACP5):c.766G>A (p.Val256Met)	54	ACP5	Uncertain significance	146196342	RCV002042244;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686037	11686037	11686037	-
NM_001611.5(ACP5):c.765C>T (p.Tyr255=)	54	ACP5	Likely benign	549955384	RCV002202920;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686038	11686038	11686038	-
NM_001611.5(ACP5):c.758T>C (p.Val253Ala)	54	ACP5	Uncertain significance	775386822	RCV002031576;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686045	11686045	11686045	-
NM_001611.5(ACP5):c.757G>A (p.Val253Met)	54	ACP5	Uncertain significance	371116310	RCV001061098;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686046	11686046	19:g.11686046C>T	-
NM_001611.5(ACP5):c.756C>T (p.Gly252=)	54	ACP5	Likely benign	139096747	RCV002199726;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686047	11686047	11686047	-
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)	54	ACP5	Uncertain significance	-1	RCV003070681;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686048	11686048	NC_000019.9:g.11686048C>T	-
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)	54	ACP5	Pathogenic/Likely pathogenic	761798208	RCV000640594\|RCV001766374;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:CN517202	19	11686065	11686065	19:g.11686065G>T	ClinGen:CA9215330	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)	54	ACP5	Likely benign	-1	RCV002711758;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686065	11686065		-
NM_001611.5(ACP5):c.736-2A>G	54	ACP5	Pathogenic	1973089024	RCV001332836;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686069	11686069	11686069	-
NM_001611.5(ACP5):c.736-3C>T	54	ACP5	Uncertain significance	773090099	RCV001863651;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686070	11686070	11686070	-
NM_001611.5(ACP5):c.736-6C>T	54	ACP5	Likely benign	-1	RCV002862167;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686073	11686073	NC_000019.9:g.11686073G>A	-
NM_001611.5(ACP5):c.736-7T>A	54	ACP5	Uncertain significance	766031438	RCV002039174;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11686074	11686074	11686074	-
NM_001611.5(ACP5):c.735+18G>A	54	ACP5	Likely benign	1413963470	RCV001501858;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687040	11687040	11687040	-
NM_001611.5(ACP5):c.735+14G>A	54	ACP5	Likely benign	-1	RCV003024196;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687044	11687044	NC_000019.9:g.11687044C>T	-
NM_001611.5(ACP5):c.735+10del	54	ACP5	Likely benign	-1	RCV002848009;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687048	11687048	NC_000019.9:g.11687050del	-
NM_001611.5(ACP5):c.735+8C>T	54	ACP5	Likely benign	781252304	RCV002095158;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687050	11687050	11687050	-
NM_001611.5(ACP5):c.735+7G>T	54	ACP5	Likely benign	1484884500	RCV002175000;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687051	11687051	11687051	-
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter)	54	ACP5	Pathogenic	1973142593	RCV001386586;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687060	11687060	11687060	-
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)	54	ACP5	Uncertain significance	1453335064	RCV001045331;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687062	11687062	19:g.11687062A>G	-
NM_001611.5(ACP5):c.730C>T (p.Leu244=)	54	ACP5	Likely benign	-1	RCV002603689;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687063	11687063		-
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)	54	ACP5	Pathogenic	2145087630	RCV002014054;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687072	11687072	11687072	-
NM_001611.5(ACP5):c.720C>T (p.His240=)	54	ACP5	Likely benign	374919506	RCV001415280;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687073	11687073	11687073	-
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)	54	ACP5	Pathogenic	-1	RCV003117885;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687075	11687083	NC_000019.9:g.11687077_11687085del	-
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)	54	ACP5	Uncertain significance	762775321	RCV001054702\|RCV002553779;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687078	11687078	19:g.11687078C>T	-
NM_001611.5(ACP5):c.714C>T (p.Cys238=)	54	ACP5	Likely benign	199512530	RCV001478840;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687079	11687079	11687079	-
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)	54	ACP5	Pathogenic	2145087756	RCV001951243;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687081	11687081	11687081	-
NM_001611.5(ACP5):c.702T>G (p.Thr234=)	54	ACP5	Likely benign	-1	RCV003079431;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687091	11687091		-
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg)	54	ACP5	Uncertain significance	374180791	RCV001221749;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687099	11687099	19:g.11687099C>T	-
NM_001611.5(ACP5):c.693C>T (p.Tyr231=)	54	ACP5	Benign	373030121	RCV000557211;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687100	11687100	19:g.11687100G>A	ClinGen:CA9215356	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.682C>G (p.Leu228Val)	54	ACP5	Uncertain significance	142623076	RCV001334780;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687111	11687111	11687111	-
NM_001611.5(ACP5):c.678A>C (p.Pro226=)	54	ACP5	Likely benign	1257952148	RCV001435741;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687115	11687115	11687115	-
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)	54	ACP5	Uncertain significance	765756315	RCV001233098\|RCV002563788;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687120	11687120	19:g.11687120G>A	-
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)	54	ACP5	Uncertain significance	-1	RCV002816579;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687120	11687121	NC_000019.9:g.11687120_11687121inv	-
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)	54	ACP5	Pathogenic	387906669	RCV000022706;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687126	11687126	19:g.11687126G>A	OMIM:171640.0002,ClinGen:CA128676	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.663C>G (p.Val221=)	54	ACP5	Likely benign	2145088053	RCV002083189;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687130	11687130	11687130	-
NM_001611.5(ACP5):c.661G>A (p.Val221Ile)	54	ACP5	Benign	2229532	RCV000544535\|RCV001572880\|RCV001702504;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900\|MedGen:CN169374	19	11687132	11687132	NC_000019.9:g.11687132C>T	ClinGen:CA9215361	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.660G>C (p.Leu220=)	54	ACP5	Likely benign	1433238601	RCV002118930;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687133	11687133	11687133	-
NM_001611.5(ACP5):c.658C>T (p.Leu220=)	54	ACP5	Likely benign	-1	RCV003074152;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687135	11687135		-
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)	54	ACP5	Pathogenic	-1	RCV002881254;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687135	11687139	NC_000019.9:g.11687135_11687139del	-
NM_001611.5(ACP5):c.652C>T (p.His218Tyr)	54	ACP5	Uncertain significance	148656335	RCV001038443;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687141	11687141	19:g.11687141G>A	-
NM_001611.5(ACP5):c.651C>A (p.Thr217=)	54	ACP5	Likely benign	-1	RCV002876726;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687142	11687142		-
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr)	54	ACP5	Uncertain significance	1372135711	RCV001223472;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687147	11687147	19:g.11687147G>T	-
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg)	54	ACP5	Pathogenic	781199182	RCV000022708;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687150	11687150	NC_000019.9:g.11687150C>G	ClinGen:CA404146374,OMIM:171640.0004	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)	54	ACP5	Pathogenic/Likely pathogenic	781199182	RCV000694951\|RCV002510960;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11687150	11687150	19:g.11687150C>T	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.642C>T (p.His214=)	54	ACP5	Likely benign	748235353	RCV002141678;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687151	11687151	11687151	-
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln)	54	ACP5	Likely benign	142179752	RCV000936196;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687156	11687156	19:g.11687156C>G	-
NM_001611.5(ACP5):c.636C>T (p.Ala212=)	54	ACP5	Likely benign	368852148	RCV002178258;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687157	11687157	11687157	-
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)	54	ACP5	Pathogenic	-1	RCV003042216;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687159	11687165	NC_000019.9:g.11687159_11687165delinsGGTAGG	-
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr)	54	ACP5	Uncertain significance	770788576	RCV001214543;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687161	11687161	19:g.11687161A>G	-
NM_001611.5(ACP5):c.625_626del (p.Trp209fs)	54	ACP5	Pathogenic	1599634435	RCV000990151;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687167	11687168	19:g.11687167_11687168del	-
NM_001611.5(ACP5):c.622G>A (p.Val208Met)	54	ACP5	Uncertain significance	535257196	RCV001297374;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687171	11687171	11687171	-
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)	54	ACP5	Uncertain significance	-1	RCV002690394;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687171	11687171	NC_000019.9:g.11687171C>A	-
NM_001611.5(ACP5):c.621C>T (p.Pro207=)	54	ACP5	Likely benign	372107388	RCV001443954;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687172	11687172	19:g.11687172G>A	-
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr)	54	ACP5	Uncertain significance	1973150471	RCV001350078;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687174	11687174	11687174	-
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)	54	ACP5	Uncertain significance	-1	RCV002304513;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687176	11687176	11687176	-
NM_001611.5(ACP5):c.612C>A (p.Gly204=)	54	ACP5	Likely benign	-1	RCV002801153;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687181	11687181		-
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp)	54	ACP5	Uncertain significance	775336126	RCV001368785;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687182	11687182	11687182	-
NM_001611.5(ACP5):c.604G>C (p.Val202Leu)	54	ACP5	Uncertain significance	1188745377	RCV001985913;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687189	11687189	11687189	-
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)	54	ACP5	Uncertain significance	387906672	RCV000022711;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687191	11687191	19:g.11687191A>G	ClinGen:CA128682,UniProtKB:P13686#VAR_065923,OMIM:171640.0007	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.601C>T (p.Leu201=)	54	ACP5	Benign/Likely benign	568957938	RCV000640596\|RCV000996764;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11687192	11687192	19:g.11687192G>A	ClinGen:CA9215375	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.598G>A (p.Val200Met)	54	ACP5	Benign	2229531	RCV000245115\|RCV001539664\|RCV001522650;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687195	11687195	19:g.11687195C>T	ClinGen:CA9215376,UniProtKB:P13686#VAR_020603	CN169374 not specified;
NM_001611.5(ACP5):c.597C>T (p.Tyr199=)	54	ACP5	Likely benign	750930124	RCV001408412;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687196	11687196	11687196	-
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys)	54	ACP5	Uncertain significance	1599634603	RCV000791659;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687206	11687206	19:g.11687206C>T	-
NM_001611.5(ACP5):c.585C>G (p.Ala195=)	54	ACP5	Likely benign	766688951	RCV002154224;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687208	11687208	11687208	-
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)	54	ACP5	Uncertain significance	-1	RCV003340984;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687209	11687209		-
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)	54	ACP5	Uncertain significance	-1	RCV002909413;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687210	11687210	NC_000019.9:g.11687210C>T	-
NM_001611.5(ACP5):c.582G>A (p.Ala194=)	54	ACP5	Likely benign	367699467	RCV001424800;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687211	11687211	11687211	-
NM_001611.5(ACP5):c.581C>T (p.Ala194Val)	54	ACP5	Uncertain significance	755385110	RCV001932187;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687212	11687212	11687212	-
NM_001611.5(ACP5):c.579G>A (p.Ala193=)	54	ACP5	Likely benign	752926629	RCV002092777;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687214	11687214	11687214	-
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu)	54	ACP5	Uncertain significance	756201795	RCV001211971;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687215	11687215	19:g.11687215G>T	-
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)	54	ACP5	Uncertain significance	-1	RCV002696061;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687215	11687215	NC_000019.9:g.11687215G>A	-
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)	54	ACP5	Uncertain significance	-1	RCV002979390;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687223	11687223	NC_000019.9:g.11687223T>A	-
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)	54	ACP5	Uncertain significance	-1	RCV003113087;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687226	11687226	NC_000019.9:g.11687226C>A	-
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)	54	ACP5	Pathogenic	-1	RCV003044829;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687243	11687243	NC_000019.9:g.11687243G>A	-
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg)	54	ACP5	Uncertain significance	371719196	RCV001905512;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687245	11687245	11687245	-
NM_001611.5(ACP5):c.545G>A (p.Arg182His)	54	ACP5	Uncertain significance	778805198	RCV001068408;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687248	11687248	19:g.11687248C>T	-
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys)	54	ACP5	Uncertain significance	202169550	RCV001050624;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687249	11687249	19:g.11687249G>A	-
NM_001611.5(ACP5):c.543C>A (p.Ala181=)	54	ACP5	Conflicting interpretations of pathogenicity	139822120	RCV000179369\|RCV001078878;	N	MedGen:CN517202\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687250	11687250	19:g.11687250G>T	ClinGen:CA246612	CN169374 not specified;
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp)	54	ACP5	Uncertain significance	745457954	RCV001317696;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687251	11687251	11687251	-
NM_001611.5(ACP5):c.532G>A (p.Val178Met)	54	ACP5	Uncertain significance	-1	RCV002922215;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687261	11687261	NC_000019.9:g.11687261C>T	-
NM_001611.5(ACP5):c.531C>T (p.Asp177=)	54	ACP5	Likely benign	-1	RCV003067507;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687262	11687262		-
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn)	54	ACP5	Uncertain significance	766846705	RCV001211158;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687264	11687264	19:g.11687264C>T	-
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln)	54	ACP5	Uncertain significance	774878498	RCV001358844\|RCV003298559;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687266	11687266	11687266	-
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)	54	ACP5	Pathogenic	1025967277	RCV000622352\|RCV002283498;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687267	11687267	19:g.11687267G>A	ClinGen:CA305358935	C0950123 Inborn genetic diseases;
NM_001611.5(ACP5):c.526del (p.Arg176fs)	54	ACP5	Pathogenic	2145089035	RCV001875223;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687267	11687267	11687266	-
NM_001611.5(ACP5):c.522G>A (p.Arg174=)	54	ACP5	Likely benign	376767095	RCV000907431;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687271	11687271	19:g.11687271C>T	-
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)	54	ACP5	Uncertain significance	-1	RCV003084683;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687273	11687273	NC_000019.9:g.11687273T>C	-
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys)	54	ACP5	Uncertain significance	1973158210	RCV001301396;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687276	11687276	11687276	-
NM_001611.5(ACP5):c.516T>A (p.Pro172=)	54	ACP5	Likely benign	887425978	RCV000919730;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687277	11687277	19:g.11687277A>T	-
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)	54	ACP5	Uncertain significance	764197394	RCV002035159;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687293	11687293	11687293	-
NM_001611.5(ACP5):c.495T>C (p.Asp165=)	54	ACP5	Likely benign	757465602	RCV000915303;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687298	11687298	19:g.11687298A>G	-
NM_001611.5(ACP5):c.480A>G (p.Leu160=)	54	ACP5	Likely benign	373684791	RCV001495960;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687313	11687313	11687313	-
NM_001611.5(ACP5):c.477A>C (p.Thr159=)	54	ACP5	Likely benign	147105591	RCV001413177;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687316	11687316	11687316	-
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)	54	ACP5	Uncertain significance	1399049173	RCV000706171;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687324	11687324	NC_000019.9:g.11687324T>C	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.459T>C (p.Phe153=)	54	ACP5	Likely benign	-1	RCV002619333;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687334	11687334		-
NM_001611.5(ACP5):c.442G>A (p.Val148Met)	54	ACP5	Benign	2305799	RCV000253285\|RCV001522651\|RCV001651151;	N	MedGen:CN169374\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11687351	11687351	NC_000019.9:g.11687351C>T	ClinGen:CA9215409,UniProtKB:P13686#VAR_020602	CN169374 not specified;
NM_001611.5(ACP5):c.438C>T (p.Thr146=)	54	ACP5	Likely benign	2145089524	RCV002188815;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687355	11687355	11687355	-
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu)	54	ACP5	Uncertain significance	776392911	RCV001962641;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687359	11687359	11687359	-
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)	54	ACP5	Uncertain significance	-1	RCV003337999;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687360	11687360		-
NM_001611.5(ACP5):c.421T>G (p.Phe141Val)	54	ACP5	Uncertain significance	201716955	RCV001359654\|RCV002547727;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687372	11687372	11687372	-
NM_001611.5(ACP5):c.420C>T (p.His140=)	54	ACP5	Likely benign	1281816540	RCV002158262;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687373	11687373	11687373	-
NM_001611.5(ACP5):c.418C>T (p.His140Tyr)	54	ACP5	Uncertain significance	2145089608	RCV001979283\|RCV002469443;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:CN169374	19	11687375	11687375	11687375	-
NM_001611.5(ACP5):c.417G>A (p.Leu139=)	54	ACP5	Likely benign	2145089622	RCV002197207;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687376	11687376	11687376	-
NM_001611.5(ACP5):c.413G>A (p.Arg138His)	54	ACP5	Uncertain significance	143362935	RCV001338989;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687380	11687380	11687380	-
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)	54	ACP5	Uncertain significance	-1	RCV003071790;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687381	11687381	NC_000019.9:g.11687381G>A	-
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys)	54	ACP5	Uncertain significance	760044774	RCV001241772\|RCV001751480;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:CN517202	19	11687383	11687383	19:g.11687383T>C	-
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu)	54	ACP5	Uncertain significance	2145089685	RCV001949115;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687387	11687387	11687387	-
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg)	54	ACP5	Uncertain significance	1243676385	RCV000802214;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687395	11687395	19:g.11687395G>C	-
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys)	54	ACP5	Uncertain significance	767853623	RCV001324106;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687400	11687400	11687400	-
NM_001611.5(ACP5):c.390-11C>G	54	ACP5	Benign	182019242	RCV001516852;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687414	11687414	11687414	-
NM_001611.5(ACP5):c.390-11C>T	54	ACP5	Likely benign	182019242	RCV002186398;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687414	11687414	11687414	-
NM_001611.5(ACP5):c.390-17C>T	54	ACP5	Likely benign	-1	RCV003009407;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687420	11687420	NC_000019.9:g.11687420G>A	-
NM_001611.5(ACP5):c.389+17C>T	54	ACP5	Likely benign	-1	RCV003038299;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687514	11687514	NC_000019.9:g.11687514G>A	-
NM_001611.5(ACP5):c.389+15G>T	54	ACP5	Likely benign	562918956	RCV002121086;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687516	11687516	11687516	-
NM_001611.5(ACP5):c.389+13C>T	54	ACP5	Likely benign	-1	RCV002824536;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687518	11687518	NC_000019.9:g.11687518G>A	-
NM_001611.5(ACP5):c.389+9C>T	54	ACP5	Likely benign	-1	RCV002618052;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687522	11687522	NC_000019.9:g.11687522G>A	-
NM_001611.5(ACP5):c.386G>A (p.Arg129His)	54	ACP5	Uncertain significance	199580546	RCV000532055;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687534	11687534	19:g.11687534C>T	ClinGen:CA9215438	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)	54	ACP5	Uncertain significance	-1	RCV002598491;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687535	11687535	NC_000019.9:g.11687535G>A	-
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg)	54	ACP5	Uncertain significance	750563102	RCV001878542;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687537	11687537	11687537	-
NM_001611.5(ACP5):c.381C>T (p.Ser127=)	54	ACP5	Likely benign	2145090669	RCV001477418;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687539	11687539	11687539	-
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter)	54	ACP5	Pathogenic	1171155255	RCV001896863;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687544	11687545	11687544	-
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)	54	ACP5	Pathogenic	-1	RCV002572194;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687547	11687548	NC_000019.9:g.11687548dup	-
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)	54	ACP5	Pathogenic	747619825	RCV001091770\|RCV001862699;	N	MedGen:C3661900\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687551	11687551	19:g.11687551G>T	-
NM_001611.5(ACP5):c.366A>C (p.Ala122=)	54	ACP5	Likely benign	-1	RCV002847619;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687554	11687554		-
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)	54	ACP5	Uncertain significance	-1	RCV002814285;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687558	11687558	NC_000019.9:g.11687558A>G	-
NM_001611.5(ACP5):c.361del (p.Ile121fs)	54	ACP5	Pathogenic	749753832	RCV001999723;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687559	11687559	11687558	-
NM_001611.5(ACP5):c.354T>C (p.Ser118=)	54	ACP5	Likely benign	1337015672	RCV002199380;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687566	11687566	11687566	-
NM_001611.5(ACP5):c.351C>T (p.Val117=)	54	ACP5	Likely benign	2145090791	RCV001482576;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687569	11687569	11687569	-
NM_001611.5(ACP5):c.351C>A (p.Val117=)	54	ACP5	Likely benign	-1	RCV002829242;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687569	11687569		-
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe)	54	ACP5	Uncertain significance	763172932	RCV001897782\|RCV002553474;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687580	11687580	11687580	-
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn)	54	ACP5	Uncertain significance	1252610234	RCV002012620\|RCV002274245;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11687586	11687586	11687586	-
NM_001611.5(ACP5):c.333T>C (p.His111=)	54	ACP5	Likely benign	-1	RCV003028493;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687587	11687587		-
NM_001611.5(ACP5):c.332A>G (p.His111Arg)	54	ACP5	Uncertain significance	-1	RCV002745803;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687588	11687588	NC_000019.9:g.11687588T>C	-
NM_001611.5(ACP5):c.331C>T (p.His111Tyr)	54	ACP5	Uncertain significance	1195620494	RCV001910077;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687589	11687589	11687589	-
NM_001611.5(ACP5):c.330C>T (p.Asn110=)	54	ACP5	Likely benign	2145090965	RCV002202579;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687590	11687590	11687590	-
NM_001611.5(ACP5):c.327A>G (p.Gly109=)	54	ACP5	Likely benign	1973176548	RCV001393325;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687593	11687593	11687593	-
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	54	ACP5	Pathogenic/Likely pathogenic	781050795	RCV000022709\|RCV000624296\|RCV003421931;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123\|	19	11687595	11687595	19:g.11687595C>T	ClinGen:CA9215447,UniProtKB:P13686#VAR_065922,OMIM:171640.0005	C0950123 Inborn genetic diseases;
NM_001611.5(ACP5):c.316G>A (p.Val106Met)	54	ACP5	Uncertain significance	148219285	RCV000806559\|RCV002290451\|RCV002534829;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	11687604	11687604	19:g.11687604C>T	-
NM_001611.5(ACP5):c.315C>T (p.Tyr105=)	54	ACP5	Likely benign	2229530	RCV001503418;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687605	11687605	11687605	-
NM_001611.5(ACP5):c.299G>A (p.Arg100His)	54	ACP5	Likely benign	141651325	RCV000728906\|RCV000960520;	N	MedGen:CN169374\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687621	11687621	NC_000019.9:g.11687621C>T	-
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)	54	ACP5	Uncertain significance	-1	RCV002785616;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687622	11687622	NC_000019.9:g.11687622G>A	-
NM_001611.5(ACP5):c.290G>A (p.Arg97His)	54	ACP5	Uncertain significance	777140546	RCV000695790;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687630	11687630	NC_000019.9:g.11687630C>T	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys)	54	ACP5	Uncertain significance	1231519014	RCV002025587;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687631	11687631	11687631	-
NM_001611.5(ACP5):c.279A>G (p.Val93=)	54	ACP5	Likely benign	1351504233	RCV001416385;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687641	11687641	11687641	-
NM_001611.5(ACP5):c.277G>A (p.Val93Ile)	54	ACP5	Uncertain significance	568576678	RCV001057168\|RCV002553823;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687643	11687643	19:g.11687643C>T	-
NM_001611.5(ACP5):c.276C>T (p.Asp92=)	54	ACP5	Benign	34375794	RCV000560827;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687644	11687644	19:g.11687644G>A	ClinGen:CA9215458	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.266_272del (p.Thr89fs)	54	ACP5	Pathogenic	2145091349	RCV002037747;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687648	11687654	11687647	-
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile)	54	ACP5	Pathogenic	387906668	RCV000022705;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687654	11687654	19:g.11687654G>A	ClinGen:CA128674,UniProtKB:P13686#VAR_065921,OMIM:171640.0001	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.262-15_262-12del	54	ACP5	Uncertain significance	-1	RCV002776520;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687670	11687673	NC_000019.9:g.11687672_11687675del	-
NM_001611.5(ACP5):c.262-14T>C	54	ACP5	Uncertain significance	1973181435	RCV001334779;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687672	11687672	11687672	-
NM_001611.5(ACP5):c.262-15A>G	54	ACP5	Likely benign	200250079	RCV001452523;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687673	11687673	11687673	-
NM_001611.5(ACP5):c.262-20G>A	54	ACP5	Likely benign	200885075	RCV001956363;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687678	11687678	11687678	-
NM_001611.5(ACP5):c.261+13C>T	54	ACP5	Likely benign	-1	RCV002605796;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687859	11687859	NC_000019.9:g.11687859G>A	-
NM_001611.5(ACP5):c.261+6T>C	54	ACP5	Uncertain significance	775396112	RCV001230676;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687866	11687866	19:g.11687866A>G	-
NM_001611.5(ACP5):c.259del (p.Gln87fs)	54	ACP5	Pathogenic	2145092472	RCV001902500;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687874	11687874	11687873	-
NM_001611.5(ACP5):c.257del (p.Phe86fs)	54	ACP5	Pathogenic	2145092503	RCV001388705;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687876	11687876	11687875	-
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu)	54	ACP5	Uncertain significance	563929774	RCV001212203;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687884	11687884	19:g.11687884G>C	-
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser)	54	ACP5	Uncertain significance	202233676	RCV000543872;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687888	11687888	NC_000019.9:g.11687888T>C	ClinGen:CA404148805	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)	54	ACP5	Uncertain significance	528748445	RCV000686302\|RCV002544744;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687895	11687895	19:g.11687895C>T	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.225C>T (p.Phe75=)	54	ACP5	Benign	62638747	RCV000248093\|RCV001522652\|RCV001711555;	N	MedGen:CN169374\|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11687908	11687908	NC_000019.9:g.11687908G>A	ClinGen:CA9215507	CN169374 not specified;
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter)	54	ACP5	Pathogenic	965741395	RCV001898909;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687911	11687911	11687911	-
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly)	54	ACP5	Uncertain significance	765370739	RCV001936830;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687942	11687942	11687942	-
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)	54	ACP5	Uncertain significance	-1	RCV002972566;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687945	11687945	NC_000019.9:g.11687945G>A	-
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln)	54	ACP5	Uncertain significance	922892618	RCV000703324;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687966	11687966	19:g.11687966C>T	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp)	54	ACP5	Uncertain significance	371591030	RCV001980985\|RCV002608074;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687967	11687967	11687967	-
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr)	54	ACP5	Uncertain significance	529545521	RCV000793506;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687970	11687970	19:g.11687970C>T	-
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)	54	ACP5	Uncertain significance	-1	RCV002797398;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687981	11687981	NC_000019.9:g.11687981G>T	-
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)	54	ACP5	Uncertain significance	189825826	RCV000803148\|RCV002537154;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11687984	11687984	19:g.11687984T>C	-
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)	54	ACP5	Uncertain significance	-1	RCV002796026;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687989	11687989	NC_000019.9:g.11687989C>T	-
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln)	54	ACP5	Uncertain significance	201184983	RCV000531109;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687996	11687996	19:g.11687996C>T	ClinGen:CA9215517	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp)	54	ACP5	Uncertain significance	780116316	RCV001362074;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687997	11687997	11687997	-
NM_001611.5(ACP5):c.136del (p.Arg46fs)	54	ACP5	Pathogenic	2145093044	RCV001957731;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11687997	11687997	11687996	-
NM_001611.5(ACP5):c.132G>A (p.Thr44=)	54	ACP5	Likely benign	150582430	RCV000961610;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688001	11688001	19:g.11688001C>T	-
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)	54	ACP5	Conflicting interpretations of pathogenicity	369804864	RCV000210945\|RCV002223820;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MedGen:C3661900	19	11688002	11688002	NC_000019.9:g.11688002G>A	ClinGen:CA9215522,OMIM:171640.0008	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)	54	ACP5	Uncertain significance	-1	RCV003003016;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688003	11688003	NC_000019.9:g.11688003T>C	-
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)	54	ACP5	Uncertain significance	-1	RCV003035331;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688024	11688024	NC_000019.9:g.11688024C>T	-
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn)	54	ACP5	Uncertain significance	2145093288	RCV001999675;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688036	11688036	11688036	-
NM_001611.5(ACP5):c.91G>A (p.Val31Met)	54	ACP5	Uncertain significance	765947561	RCV001228789;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688042	11688042	19:g.11688042C>T	-
NM_001611.5(ACP5):c.90C>T (p.Ala30=)	54	ACP5	Likely benign	-1	RCV003079593;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688043	11688043		-
NM_001611.5(ACP5):c.85G>A (p.Val29Ile)	54	ACP5	Uncertain significance	1297907616	RCV002046187;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688048	11688048	11688048	-
NM_001611.5(ACP5):c.80G>A (p.Arg27His)	54	ACP5	Uncertain significance	376043348	RCV001985175;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688053	11688053	11688053	-
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys)	54	ACP5	Uncertain significance	369579418	RCV000818588;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688054	11688054	19:g.11688054G>A	-
NM_001611.5(ACP5):c.69C>T (p.Thr23=)	54	ACP5	Likely benign	-1	RCV002576713;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688064	11688064		-
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile)	54	ACP5	Uncertain significance	939236666	RCV001326040;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688065	11688065	11688065	-
NM_001611.5(ACP5):c.44_65del (p.Leu15fs)	54	ACP5	Pathogenic	1973203506	RCV001226079;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688068	11688089	19:g.11688068_11688089del	-
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg)	54	ACP5	Uncertain significance	757630659	RCV001043846;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688072	11688072	19:g.11688072C>G	-
NM_001611.5(ACP5):c.60T>C (p.Asp20=)	54	ACP5	Likely benign	-1	RCV002928000;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688073	11688073		-
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)	54	ACP5	Uncertain significance	-1	RCV002585276;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688077	11688077	NC_000019.9:g.11688077G>A	-
NM_001611.5(ACP5):c.51C>A (p.Ser17=)	54	ACP5	Likely benign	-1	RCV002852137;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688082	11688082		-
NM_001611.5(ACP5):c.47C>A (p.Pro16His)	54	ACP5	Uncertain significance	201047202	RCV001324493;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688086	11688086	11688086	-
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr)	54	ACP5	Uncertain significance	2145093640	RCV001993884;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688087	11688087	11688087	-
NM_001611.5(ACP5):c.30G>T (p.Leu10=)	54	ACP5	Likely benign	139654624	RCV000960532;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688103	11688103	19:g.11688103C>A	-
NM_001611.5(ACP5):c.28C>T (p.Leu10=)	54	ACP5	Likely benign	-1	RCV002595286;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688105	11688105		-
NM_001611.5(ACP5):c.18G>A (p.Ala6=)	54	ACP5	Likely benign	-1	RCV002988877;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688115	11688115		-
NM_001611.5(ACP5):c.17C>T (p.Ala6Val)	54	ACP5	Conflicting interpretations of pathogenicity	182776939	RCV001228683\|RCV002563708;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855\|MeSH:D030342,MedGen:C0950123	19	11688116	11688116	19:g.11688116G>A	-
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr)	54	ACP5	Uncertain significance	1599637550	RCV000817493;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688117	11688117	19:g.11688117C>T	-
NM_001611.5(ACP5):c.15G>T (p.Thr5=)	54	ACP5	Likely benign	772911511	RCV002536809;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688118	11688118	19:g.11688118C>A	-
NM_001611.5(ACP5):c.15G>A (p.Thr5=)	54	ACP5	Likely benign	772911511	RCV002140505;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688118	11688118	11688118	-
NM_001611.5(ACP5):c.14C>T (p.Thr5Met)	54	ACP5	Uncertain significance	556637113	RCV000701843;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688119	11688119	19:g.11688119G>A	-	C1842763 607944 Spondyloenchondrodysplasia with immune dysregulation;
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala)	54	ACP5	Uncertain significance	2145093839	RCV001988774;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688120	11688120	11688120	-
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)	54	ACP5	Uncertain significance	-1	RCV003087491;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688125	11688125	NC_000019.9:g.11688125A>G	-
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)	54	ACP5	Uncertain significance	-1	RCV003057240;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688128	11688128	NC_000019.9:g.11688128T>G	-
NM_001611.5(ACP5):c.1A>G (p.Met1Val)	54	ACP5	Uncertain significance	2145093934	RCV001943895;	N	MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944, Orphanet:1855	19	11688132	11688132	11688132	-

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