Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diseases (C)
Parent Node: Mucolipidosis 2 (C538602)
..Starting node ..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Child Nodes:
Sister Nodes:
..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7424

Name:

MUCOLIPIDOSIS II ALPHA/BETA

Definition:

Alternative IDs:

ParentIDs:

MESH:C538602

TreeNumbers:

C05.116.198.371/C538602/252500 |C10.228.140.163.100.435.590/C538602/252500 |C16.320.565.189.435.590/C538602/252500 |C16.320.565.202.670/C538602/252500 |C16.320.565.595.554.590/C538602/252500 |C18.452.132.100.435.590/C538602/252500 |C18.452.648.189.435.590/C538

Synonyms:

ICD |I-CELL DISEASE |ML II |ML II ALPHA/BETA |MUCOLIPIDOSIS II

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 252500
MeSH: 252500
OMIM: 252500;

Genes: GNPTAB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001547	Abnormal rib cage morphology
3	HP:0000463	Anteverted nares
4	HP:0001659	Aortic regurgitation
5	HP:0003414	Atlantoaxial dislocation
6	HP:0004562	Beaking of vertebral bodies T12-L3
7	HP:0009769	Bullet-shaped phalanges of the hand
8	HP:0001640	Cardiomegaly
9	HP:0001498	Carpal bone hypoplasia
10	HP:0001048	Cavernous hemangioma
11	HP:0000280	Coarse facial features
12	HP:0001635	Congestive heart failure
13	HP:0003819	Death in childhood
14	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase
15	HP:0005280	Depressed nasal bridge
16	HP:0001540	Diastasis recti
17	HP:0000286	Epicanthus
18	HP:0001508	Failure to thrive
19	HP:0002869	Flared iliac wing
20	HP:0003180	Flat acetabular roof
21	HP:0001263	Global developmental delay
22	HP:0030148	Heart murmur
23	HP:0002240	Hepatomegaly
24	HP:0000348	High forehead
25	HP:0002827	Hip dislocation
26	HP:0001609	Hoarse voice
27	HP:0001639	Hypertrophic cardiomyopathy
28	HP:0003311	Hypoplasia of the odontoid process
29	HP:0000882	Hypoplastic scapulae
30	HP:0003333	Increased serum beta-hexosaminidase
31	HP:0003538	Increased serum iduronate sulfatase level
32	HP:0000023	Inguinal hernia
33	HP:0002690	Large sella turcica
34	HP:0000343	Long philtrum
35	HP:0008470	Lower thoracic interpediculate narrowness
36	HP:0000158	Macroglossia
37	HP:0000485	Megalocornea
38	HP:0003016	Metaphyseal widening
39	HP:0008155	Mucopolysacchariduria
40	HP:0002196	Myelopathy
41	HP:0000341	Narrow forehead
42	HP:0001319	Neonatal hypotonia
43	HP:0007759	Opacification of the corneal stroma
44	HP:0000938	Osteopenia
45	HP:0003300	Ovoid vertebral bodies
46	HP:0100540	Palpebral edema
47	HP:0002756	Pathologic fracture
48	HP:0009092	Progressive alveolar ridge hypertropy
49	HP:0001538	Protuberant abdomen
50	HP:0002837	Recurrent bronchitis
51	HP:0000403	Recurrent otitis media
52	HP:0006532	Recurrent pneumonia
53	HP:0011344	Severe global developmental delay
54	HP:0008850	Severe postnatal growth retardation
55	HP:0003026	Short long bone
56	HP:0000535	Sparse and thin eyebrow
57	HP:0001744	Splenomegaly
58	HP:0001171	Split hand
59	HP:0001762	Talipes equinovarus
60	HP:0002684	Thickened calvaria
61	HP:0003423	Thoracolumbar kyphoscoliosis
62	HP:0001537	Umbilical hernia
63	HP:0006362	Varus deformity of humeral neck
64	HP:0006610	Wide intermamillary distance

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_024312.4(GNPTAB):c.3741_3744delAGAA (p.Glu1248Leufs)	79158	GNPTAB	Pathogenic	281865022	RCV000087105; RCV000032345;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102140969	102140972	NM_024312.4:c.3741_3744delAGAA	NP_077288.2:p.Glu1248Leufs	NC_000012.11:g.102140969_102140972delTTCT	-	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3613C>T (p.Arg1205Ter)	79158	GNPTAB	Pathogenic	35333334	RCV000031986; RCV000032344;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102142959	102142959	NM_024312.4:c.3613C>T	NP_077288.2:p.Arg1205Ter	NC_000012.11:g.102142959G>A	-	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3567dupA (p.Asn1190Lysfs)	79158	GNPTAB	Pathogenic	281865039	RCV000031985;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147185	102147185	NM_024312.4:c.3567dupA	NP_077288.2:p.Asn1190Lysfs	NC_000012.11:g.102147185dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter)	79158	GNPTAB	Pathogenic	137852897	RCV000002892; RCV000002891;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147187	102147187	NM_024312.4:c.3565C>T	NP_077288.2:p.Arg1189Ter	NC_000012.11:g.102147187G>A	OMIM Allelic Variant:607840.0004	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3560_3561delAG (p.Glu1187Valfs)	79158	GNPTAB	Pathogenic	781689303	RCV000175480;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147191	102147192	NM_024312.4:c.3560_3561delAG	NP_077288.2:p.Glu1187Valfs	NC_000012.11:g.102147191_102147192delCT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3523_3529delATGTTCC (p.Met1175Profs)	79158	GNPTAB	Pathogenic	281865021	RCV000032343;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147223	102147229	NM_024312.4:c.3523_3529delATGTTCC	NP_077288.2:p.Met1175Profs	NC_000012.11:g.102147223_102147229delGGAACAT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs)	79158	GNPTAB	Pathogenic	34002892	RCV000002900; RCV000002899; RCV000082192;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102147248	102147249	NM_024312.4:c.3503_3504delTC	NP_077288.2:p.Leu1168Glnfs	NC_000012.11:g.102147248_102147249delGA	HGMD:CD060604,OMIM Allelic Variant:607840.0011	C2673377 252500 I cell disease; CN221809 not provided; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3487_3490delACAG (p.Thr1163Terfs)	79158	GNPTAB	Pathogenic	281865020	RCV000032342;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147262	102147265	NM_024312.4:c.3487_3490delACAG	NP_077288.2:p.Thr1163Terfs	NC_000012.11:g.102147262_102147265delCTGT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3474_3475delTA (p.His1158Glnfs)	79158	GNPTAB	Pathogenic	281865038	RCV000002894;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147277	102147278	NM_024312.4:c.3474_3475delTA	NP_077288.2:p.His1158Glnfs	NC_000012.11:g.102147277_102147278delTA	OMIM Allelic Variant:607840.0006	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3434+1G>A	79158	GNPTAB	Pathogenic	281865036	RCV000031983;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102150989	102150989	NM_024312.4:c.3434+1G>A		NC_000012.11:g.102150989C>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3428dupA (p.Asn1143Lysfs)	79158	GNPTAB	Pathogenic	281865017	RCV000032338;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102150996	102150996	NM_024312.4:c.3428dupA	NP_077288.2:p.Asn1143Lysfs	NC_000012.11:g.102150996dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3410T>A (p.Leu1137Ter)	79158	GNPTAB	Pathogenic	142065232	RCV000032337;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151014	102151014	NM_024312.4:c.3410T>A	NP_077288.2:p.Leu1137Ter	NC_000012.11:g.102151014A>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3392C>T (p.Ser1131Phe)	79158	GNPTAB	Pathogenic	281865016	RCV000032361;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151032	102151032	NM_024312.4:c.3392C>T	NP_077288.2:p.Ser1131Phe	NC_000012.11:g.102151032G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3388_3389insC (p.Val1130Alafs)	79158	GNPTAB	Pathogenic	281865015	RCV000032361;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151035	102151036	NM_024312.4:c.3388_3389insC	NP_077288.2:p.Val1130Alafs	NC_000012.11:g.102151032G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3336-1G>C	79158	GNPTAB	Pathogenic	397507562	RCV000034158;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151089	102151089	NM_024312.4:c.3336-1G>C		NC_000012.11:g.102151089C>G	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3335+6T>G	79158	GNPTAB	Pathogenic	34788341	RCV000002902; RCV000032336; RCV000031982;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C0086647,OMIM:252900,SNOMED CT:41572006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151344	102151344	NM_024312.4:c.3335+6T>G		NC_000012.11:g.102151344A>C	OMIM Allelic Variant:607840.0013	C2673377 252500 I cell disease; C0086647 252900 Mucopolysaccharidosis, MPS-III-A; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3335+1G>A	79158	GNPTAB	Pathogenic	34940801	RCV000002901;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151349	102151349	NM_024312.4:c.3335+1G>A		NC_000012.11:g.102151349C>T	OMIM Allelic Variant:607840.0012	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3328dupA (p.Tyr1111Ilefs)	79158	GNPTAB	Pathogenic	281865014	RCV000032335;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151357	102151357	NM_024312.4:c.3328dupA	NP_077288.2:p.Tyr1111Ilefs	NC_000012.11:g.102151357dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3326dupA (p.Asn1109Lysfs)	79158	GNPTAB	Pathogenic	797044663	RCV000175232;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151359	102151359	NM_024312.4:c.3326dupA	NP_077288.2:p.Asn1109Lysfs	NC_000012.11:g.102151359dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3310delG (p.Ala1104Hisfs)	79158	GNPTAB	Pathogenic	281865013	RCV000032334;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151375	102151375	NM_024312.4:c.3310delG	NP_077288.2:p.Ala1104Hisfs	NC_000012.11:g.102151375delC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3252delA (p.Pro1085Argfs)	79158	GNPTAB	Pathogenic	281865035	RCV000031981;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151433	102151433	NM_024312.4:c.3252delA	NP_077288.2:p.Pro1085Argfs	NC_000012.11:g.102151433delT	-	C2673377 252500 I cell disease
NG_021243.1:g.78209A>G	79158	GNPTAB	Pathogenic	-1	RCV000211681;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151437	102151437	NM_024312.4:c.3250-2A>G			-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3249+1G>A	79158	GNPTAB	Pathogenic	281865012	RCV000031980;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153807	102153807	NM_024312.4:c.3249+1G>A		NC_000012.11:g.102153807C>G,NC_000012.11:g.102153807C>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3249+1G>C	79158	GNPTAB	Pathogenic	281865012	RCV000032333;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153807	102153807	NM_024312.4:c.3249+1G>C		NC_000012.11:g.102153807C>G,NC_000012.11:g.102153807C>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3231_3234dupCTAC (p.Tyr1079Leufs)	79158	GNPTAB	Pathogenic	34256381	RCV000031979;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153823	102153826	NM_024312.4:c.3231_3234dupCTAC	NP_077288.2:p.Tyr1079Leufs	NC_000012.11:g.102153823_102153826dupGTAG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3232delT (p.Tyr1078Thrfs)	79158	GNPTAB	Pathogenic	281865011	RCV000032332;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153825	102153825	NM_024312.4:c.3232delT	NP_077288.2:p.Tyr1078Thrfs	NC_000012.11:g.102153825delA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3173C>G (p.Ser1058Ter)	79158	GNPTAB	Pathogenic	137852898	RCV000002893;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153884	102153884	NM_024312.4:c.3173C>G	NP_077288.2:p.Ser1058Ter	NC_000012.11:g.102153884G>C	OMIM Allelic Variant:607840.0005	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3160C>G (p.Leu1054Val)	79158	GNPTAB	Pathogenic	281865010	RCV000032331;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153897	102153897	NM_024312.4:c.3160C>G	NP_077288.2:p.Leu1054Val	NC_000012.11:g.102153897G>C	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3145_3146insC (p.Gly1049Alafs)	79158	GNPTAB	Pathogenic	281865033	RCV000031978;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102153911	102153912	NM_024312.4:c.3145_3146insC	NP_077288.2:p.Gly1049Alafs	NC_000012.11:g.102153911_102153912insG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3091C>T (p.Arg1031Ter)	79158	GNPTAB	Pathogenic	281865009	RCV000032330;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102154949	102154949	NM_024312.4:c.3091C>T	NP_077288.2:p.Arg1031Ter	NC_000012.11:g.102154949G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3061C>T (p.Gln1021Ter)	79158	GNPTAB	Pathogenic	281865008	RCV000032329;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102154979	102154979	NM_024312.4:c.3061C>T	NP_077288.2:p.Gln1021Ter	NC_000012.11:g.102154979G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3053A>G (p.Asp1018Gly)	79158	GNPTAB	Pathogenic	281865007	RCV000034157;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102154987	102154987	NM_024312.4:c.3053A>G	NP_077288.2:p.Asp1018Gly	NC_000012.11:g.102154987T>C	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.3002T>C (p.Leu1001Pro)	79158	GNPTAB	Pathogenic	281865006	RCV000032328;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102155038	102155038	NM_024312.4:c.3002T>C	NP_077288.2:p.Leu1001Pro	NC_000012.11:g.102155038A>G	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2917dupT (p.Glu975Terfs)	79158	GNPTAB	Pathogenic	281865032	RCV000031977;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102155123	102155123	NM_024312.4:c.2917dupT	NP_077288.2:p.Glu975Terfs	NC_000012.11:g.102155123dupA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2896delA (p.Met966Cysfs)	79158	GNPTAB	Pathogenic	398124398	RCV000174796; RCV000082190;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102155361	102155361	NM_024312.4:c.2896delA	NP_077288.2:p.Met966Cysfs	NC_000012.11:g.102155361delT	-	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.2864C>T (p.Ala955Val)	79158	GNPTAB	Pathogenic	138390866	RCV000032360;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102155393	102155393	NM_024312.4:c.2864C>T	NP_077288.2:p.Ala955Val	NC_000012.11:g.102155393G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2783A>G (p.Lys928Arg)	79158	GNPTAB	Pathogenic	281865003	RCV000032360;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102155474	102155474	NM_024312.4:c.2783A>G	NP_077288.2:p.Lys928Arg	NC_000012.11:g.102155393G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2693dupA (p.Tyr899Valfs)	79158	GNPTAB	Pathogenic	281864999	RCV000032322;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158002	102158002	NM_024312.4:c.2693dupA	NP_077288.2:p.Tyr899Valfs	NC_000012.11:g.102158002dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2681G>A (p.Trp894Ter)	79158	GNPTAB	Pathogenic	137852899	RCV000002895;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158014	102158014	NM_024312.4:c.2681G>A	NP_077288.2:p.Trp894Ter	NC_000012.11:g.102158014C>T	OMIM Allelic Variant:607840.0007	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2664C>G (p.Tyr888Ter)	79158	GNPTAB	Pathogenic	281864998	RCV000032321;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158031	102158031	NM_024312.4:c.2664C>G	NP_077288.2:p.Tyr888Ter	NC_000012.11:g.102158031G>C	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2659dupA (p.Ser887Lysfs)	79158	GNPTAB	Pathogenic	281865030	RCV000031975;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158036	102158036	NM_024312.4:c.2659dupA	NP_077288.2:p.Ser887Lysfs	NC_000012.11:g.102158036dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2591_2592insG (p.Asn865Lysfs)	79158	GNPTAB	Pathogenic	281864997	RCV000034156;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158103	102158104	NM_024312.4:c.2591_2592insG	NP_077288.2:p.Asn865Lysfs	NC_000012.11:g.102158103_102158104insC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2550_2554delGAAAA (p.Lys850Asnfs)	79158	GNPTAB	Pathogenic	281864996	RCV000032320;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158141	102158145	NM_024312.4:c.2550_2554delGAAAA	NP_077288.2:p.Lys850Asnfs	NC_000012.11:g.102158141_102158145delTTTTC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2544delA (p.Glu849Lysfs)	79158	GNPTAB	Pathogenic	281864995	RCV000032319;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158151	102158151	NM_024312.4:c.2544delA	NP_077288.2:p.Glu849Lysfs	NC_000012.11:g.102158151delT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2533C>T (p.Gln845Ter)	79158	GNPTAB	Pathogenic	281865028	RCV000031973;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158162	102158162	NM_024312.4:c.2533C>T	NP_077288.2:p.Gln845Ter	NC_000012.11:g.102158162G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2427delC (p.Leu810Trpfs)	79158	GNPTAB	Pathogenic	281864994	RCV000032317;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158268	102158268	NM_024312.4:c.2427delC	NP_077288.2:p.Leu810Trpfs	NC_000012.11:g.102158268delG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2422delC (p.Leu808Trpfs)	79158	GNPTAB	Pathogenic	281864993	RCV000032316;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158273	102158273	NM_024312.4:c.2422delC	NP_077288.2:p.Leu808Trpfs	NC_000012.11:g.102158273delG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2275_2276delAA (p.Asn759Terfs)	79158	GNPTAB	Pathogenic	281864992	RCV000032314;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158419	102158420	NM_024312.4:c.2275_2276delAA	NP_077288.2:p.Asn759Terfs	NC_000012.11:g.102158419_102158420delTT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2249dupA (p.Asn750Lysfs)	79158	GNPTAB	Pathogenic	281864991	RCV000032313;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158446	102158446	NM_024312.4:c.2249dupA	NP_077288.2:p.Asn750Lysfs	NC_000012.11:g.102158446dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2220_2221dupGA (p.Met741Argfs)	79158	GNPTAB	Pathogenic	281864990	RCV000032312;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158474	102158475	NM_024312.4:c.2220_2221dupGA	NP_077288.2:p.Met741Argfs	NC_000012.11:g.102158474_102158475dupTC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2196G>T (p.Lys732Asn)	79158	GNPTAB	Pathogenic	281864989	RCV000032311;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158499	102158499	NM_024312.4:c.2196G>T	NP_077288.2:p.Lys732Asn	NC_000012.11:g.102158499C>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2189delT (p.Leu730Cysfs)	79158	GNPTAB	Pathogenic	281864988	RCV000034155;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158506	102158506	NM_024312.4:c.2189delT	NP_077288.2:p.Leu730Cysfs	NC_000012.11:g.102158506delA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2188delTinsAAA (p.Leu730Lysfs)	79158	GNPTAB	Pathogenic	34161232	RCV000031972;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158507	102158507	NM_024312.4:c.2188delTinsAAA	NP_077288.2:p.Leu730Lysfs	NC_000012.11:g.102158507delAinsTTT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.2089dupC (p.Leu697Profs)	79158	GNPTAB	Pathogenic	281864987	RCV000032310;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158606	102158606	NM_024312.4:c.2089dupC	NP_077288.2:p.Leu697Profs	NC_000012.11:g.102158606dupG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1999_2000insT (p.Glu667Valfs)	79158	GNPTAB	Pathogenic	281864986	RCV000032309;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158695	102158696	NM_024312.4:c.1999_2000insT	NP_077288.2:p.Glu667Valfs	NC_000012.11:g.102158695_102158696insA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1999G>T (p.Glu667Ter)	79158	GNPTAB	Pathogenic	281864985	RCV000032308;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158696	102158696	NM_024312.4:c.1999G>T	NP_077288.2:p.Glu667Ter	NC_000012.11:g.102158696C>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1965delC (p.Ile656Terfs)	79158	GNPTAB	Pathogenic	281864984	RCV000032307;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158730	102158730	NM_024312.4:c.1965delC	NP_077288.2:p.Ile656Terfs	NC_000012.11:g.102158730delG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1959_1962delTAGT (p.Ser654Profs)	79158	GNPTAB	Pathogenic	281864983	RCV000032306;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158733	102158736	NM_024312.4:c.1959_1962delTAGT	NP_077288.2:p.Ser654Profs	NC_000012.11:g.102158733_102158736delACTA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1906dupA (p.Arg636Lysfs)	79158	GNPTAB	Pathogenic	747789493	RCV000174596;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158789	102158789	NM_024312.4:c.1906dupA	NP_077288.2:p.Arg636Lysfs	NC_000012.11:g.102158789dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1759C>T (p.Arg587Ter)	79158	GNPTAB	Pathogenic	281864982	RCV000032305;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158936	102158936	NM_024312.4:c.1759C>T	NP_077288.2:p.Arg587Ter	NC_000012.11:g.102158936G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1738_1741[3] (p.Ser581Ilefs)	79158	GNPTAB	Pathogenic	397507443	RCV000031969;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102158954	102158957	NM_024312.4:c.1738_1741[3]	NP_077288.2:p.Ser581Ilefs		-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1625_1626insC (p.Glu542Aspfs)	79158	GNPTAB	Pathogenic	281865027	RCV000002898;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102159069	102159070	NM_024312.4:c.1625_1626insC	NP_077288.2:p.Glu542Aspfs	NC_000012.11:g.102159069_102159070insG	OMIM Allelic Variant:607840.0010	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1580delC (p.Cys528Valfs)	79158	GNPTAB	Pathogenic	36007394	RCV000031968;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102159901	102159901	NM_024312.4:c.1580delC	NP_077288.2:p.Cys528Valfs	NC_000012.11:g.102159901delG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1519C>T (p.Gln507Ter)	79158	GNPTAB	Pathogenic	281864981	RCV000032301;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102159962	102159962	NM_024312.4:c.1519C>T	NP_077288.2:p.Gln507Ter	NC_000012.11:g.102159962G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1402T>A (p.Cys468Ser)	79158	GNPTAB	Pathogenic	281864979	RCV000034154;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102161821	102161821	NM_024312.4:c.1402T>A	NP_077288.2:p.Cys468Ser	NC_000012.11:g.102161821A>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1399delG (p.Asp467Ilefs)	79158	GNPTAB	Pathogenic	397507448	RCV000032299;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102161824	102161824	NM_024312.4:c.1399delG	NP_077288.2:p.Asp467Ilefs	NC_000012.11:g.102161824delC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1381T>G (p.Cys461Gly)	79158	GNPTAB	Pathogenic	281864977	RCV000032297;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102161842	102161842	NM_024312.4:c.1381T>G	NP_077288.2:p.Cys461Gly	NC_000012.11:g.102161842A>C	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1331dupG (p.Ser445Phefs)	79158	GNPTAB	Pathogenic	281864976	RCV000032295;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102161892	102161892	NM_024312.4:c.1331dupG	NP_077288.2:p.Ser445Phefs	NC_000012.11:g.102161892dupC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1298G>A (p.Trp433Ter)	79158	GNPTAB	Pathogenic	398124397	RCV000174163; RCV000082187;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102161925	102161925	NM_024312.4:c.1298G>A	NP_077288.2:p.Trp433Ter	NC_000012.11:g.102161925C>T	-	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.1206dupT (p.Ile403Tyrfs)	79158	GNPTAB	Pathogenic	281864972	RCV000032290;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102163877	102163877	NM_024312.4:c.1206dupT	NP_077288.2:p.Ile403Tyrfs	NC_000012.11:g.102163877dupA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1191_1194dupGCTG (p.Ser399Alafs)	79158	GNPTAB	Pathogenic	281864971	RCV000032289;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102163889	102163892	NM_024312.4:c.1191_1194dupGCTG	NP_077288.2:p.Ser399Alafs	NC_000012.11:g.102163889_102163892dupCAGC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1123C>T (p.Arg375Ter)	79158	GNPTAB	Pathogenic	397507447	RCV000032287; RCV000082186;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102163960	102163960	NM_024312.4:c.1123C>T	NP_077288.2:p.Arg375Ter	NC_000012.11:g.102163960G>A	HGMD:CM096593	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu)	79158	GNPTAB	Pathogenic	137852900	RCV000002904; RCV000002905;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102163963	102163963	NM_024312.4:c.1120T>C	NP_077288.2:p.Phe374Leu	NC_000012.11:g.102163963A>G	OMIM Allelic Variant:607840.0015	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter)	79158	GNPTAB	Pathogenic	200646278	RCV000032286;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164207	102164207	NM_024312.4:c.1090C>T	NP_077288.2:p.Arg364Ter	NC_000012.11:g.102164207G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu)	79158	GNPTAB	Pathogenic	7958709	RCV000032285;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164255	102164255	NM_024312.4:c.1042A>C	NP_077288.2:p.Ile348Leu	NC_000012.11:g.102164255T>G	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1036_1037delAT (p.Ile346Phefs)	79158	GNPTAB	Pathogenic	398124396	RCV000180685; RCV000082185;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102164260	102164261	NM_024312.4:c.1036_1037delAT	NP_077288.2:p.Ile346Phefs	NC_000012.11:g.102164260_102164261delAT	-	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.1001G>T (p.Arg334Leu)	79158	GNPTAB	Pathogenic	281864970	RCV000032284;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164296	102164296	NM_024312.4:c.1001G>T	NP_077288.2:p.Arg334Leu	NC_000012.11:g.102164296C>A,NC_000012.11:g.102164296C>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter)	79158	GNPTAB	Pathogenic	281864969	RCV000032282; RCV000180686; RCV000082184;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102164297	102164297	NM_024312.4:c.1000C>T	NP_077288.2:p.Arg334Ter	NC_000012.11:g.102164297G>A	HGMD:CM100334	C2673377 252500 I cell disease; CN221809 not provided; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.940C>T (p.Gln314Ter)	79158	GNPTAB	Pathogenic	281864968	RCV000032359;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164357	102164357	NM_024312.4:c.940C>T	NP_077288.2:p.Gln314Ter	NC_000012.11:g.102164357G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.914dupA (p.Asp305Glufs)	79158	GNPTAB	Pathogenic	281864967	RCV000032358;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164793	102164793	NM_024312.4:c.914dupA	NP_077288.2:p.Asp305Glufs	NC_000012.11:g.102164793dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.857dupA (p.Asn287Glufs)	79158	GNPTAB	Pathogenic	281864966	RCV000032357;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164850	102164850	NM_024312.4:c.857dupA	NP_077288.2:p.Asn287Glufs	NC_000012.11:g.102164850dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.848delA (p.Thr284Leufs)	79158	GNPTAB	Pathogenic	34517004	RCV000031992;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102164859	102164859	NM_024312.4:c.848delA	NP_077288.2:p.Thr284Leufs	NC_000012.11:g.102164859delT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.755_759delCCTCT (p.Ser252Terfs)	79158	GNPTAB	Pathogenic	281864965	RCV000032356;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102173942	102173946	NM_024312.4:c.755_759delCCTCT	NP_077288.2:p.Ser252Terfs	NC_000012.11:g.102173942_102173946delAGAGG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.749dupA (p.Asn250Lysfs)	79158	GNPTAB	Pathogenic	281864964	RCV000032354;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102173952	102173952	NM_024312.4:c.749dupA	NP_077288.2:p.Asn250Lysfs	NC_000012.11:g.102173952dupT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.732_733delAA (p.Lys244Asnfs)	79158	GNPTAB	Pathogenic	398124400	RCV000179972; RCV000082196;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102173968	102173969	NM_024312.4:c.732_733delAA	NP_077288.2:p.Lys244Asnfs	NC_000012.11:g.102173968_102173969delTT	-	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.648_651delAGAA (p.Glu217Serfs)	79158	GNPTAB	Pathogenic	281864963	RCV000032353;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102174050	102174053	NM_024312.4:c.648_651delAGAA	NP_077288.2:p.Glu217Serfs	NC_000012.11:g.102174050_102174053delTTCT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.637-1G>A	79158	GNPTAB	Pathogenic	281864962	RCV000032352;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102174065	102174065	NM_024312.4:c.637-1G>A		NC_000012.11:g.102174065C>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.625_629delAGGGG (p.Arg209Leufs)	79158	GNPTAB	Pathogenic	281864961	RCV000032351;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102174342	102174346	NM_024312.4:c.625_629delAGGGG	NP_077288.2:p.Arg209Leufs	NC_000012.11:g.102174342_102174346delCCCCT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.616_619delACAG (p.Thr206Tyrfs)	79158	GNPTAB	Pathogenic	281865024	RCV000031989; RCV000082195;	N	MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102174352	102174355	NM_024312.4:c.616_619delACAG	NP_077288.2:p.Thr206Tyrfs	NC_000012.11:g.102174352_102174355delCTGT	HGMD:CD060603	C2673377 252500 I cell disease; CN221809 not provided
NM_024312.4(GNPTAB):c.614A>C (p.Gln205Pro)	79158	GNPTAB	Pathogenic	281864959	RCV000032362;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102174357	102174357	NM_024312.4:c.614A>C	NP_077288.2:p.Gln205Pro	NC_000012.11:g.102174357T>G	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)	79158	GNPTAB	Pathogenic	-1	RCV000031987;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102179805	102179806	NM_024312.4:c.555_556ins296	NP_077288.2:p.?		dbVar:nssv3761601,dbVar:nsv1067888	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.545T>A (p.Val182Asp)	79158	GNPTAB	Pathogenic	281864958	RCV000032362;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102179816	102179816	NM_024312.4:c.545T>A	NP_077288.2:p.Val182Asp	NC_000012.11:g.102174357T>G	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.440delC (p.Asn148Thrfs)	79158	GNPTAB	Pathogenic	281864955	RCV000032346;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102179921	102179921	NM_024312.4:c.440delC	NP_077288.2:p.Asn148Thrfs	NC_000012.11:g.102179921delG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.377T>A (p.Leu126Ter)	79158	GNPTAB	Pathogenic	774506925	RCV000178995;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102179984	102179984	NM_024312.4:c.377T>A	NP_077288.2:p.Leu126Ter	NC_000012.11:g.102179984A>T	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.342_343delCA (p.Thr115Asnfs)	79158	GNPTAB	Pathogenic	281864954	RCV000032339;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102182348	102182349	NM_024312.4:c.342_343delCA	NP_077288.2:p.Thr115Asnfs	NC_000012.11:g.102182348_102182349delTG	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.310C>T (p.Gln104Ter)	79158	GNPTAB	Pathogenic	137852896	RCV000002890;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102183729	102183729	NM_024312.4:c.310C>T	NP_077288.2:p.Gln104Ter	NC_000012.11:g.102183729G>A	OMIM Allelic Variant:607840.0003	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.118-?_203+?dup86	79158	GNPTAB	Pathogenic	-1	RCV000032288;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190455	102190540	NM_024312.4:c.118-?_203+?dup86			-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.171delA (p.Asp58Thrfs)	79158	GNPTAB	Pathogenic	281864951	RCV000032304;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190487	102190487	NM_024312.4:c.171delA	NP_077288.2:p.Asp58Thrfs	NC_000012.11:g.102190487delT	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.163dupT (p.Ser55Phefs)	79158	GNPTAB	Pathogenic	281864949	RCV000032302;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190495	102190495	NM_024312.4:c.163dupT	NP_077288.2:p.Ser55Phefs	NC_000012.11:g.102190495dupA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.157_160delTTTG (p.Phe53Ilefs)	79158	GNPTAB	Pathogenic	794727302	RCV000175943;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190498	102190501	NM_024312.4:c.157_160delTTTG	NP_077288.2:p.Phe53Ilefs	NC_000012.11:g.102190498_102190501delCAAA	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter)	79158	GNPTAB	Pathogenic	78347057	RCV000032296;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190522	102190522	NM_024312.4:c.136C>T	NP_077288.2:p.Arg46Ter	NC_000012.11:g.102190522G>A	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.121delG (p.Val41Phefs)	79158	GNPTAB	Pathogenic	281864948	RCV000032292;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190537	102190537	NM_024312.4:c.121delG	NP_077288.2:p.Val41Phefs	NC_000012.11:g.102190537delC	-	C2673377 252500 I cell disease
NM_024312.4(GNPTAB):c.118-2A>G	79158	GNPTAB	Pathogenic	281865023	RCV000031966;	N	MedGen:C2673377,OMIM:252500,ORPHA:576	12	102190542	102190542	NM_024312.4:c.118-2A>G		NC_000012.11:g.102190542T>C	-	C2673377 252500 I cell disease