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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Orofaciodigital Syndromes (D009958)
..Starting node ..Orofaciodigital syndrome type1 (C537134)
Child Nodes:
Sister Nodes:
..Juberg Hayward syndrome (C537690)
..Oral-facial-digital syndrome, type 2 (C538585)
..Orofaciodigital syndrome 11 (C557821)
..Orofaciodigital Syndrome 12 (C548034)
..Orofaciodigital Syndrome 13 (C548035)
..Orofaciodigital syndrome 3 (C557817)
..Orofaciodigital syndrome 4 (C537133)
..Orofaciodigital syndrome 5 (C557819)
..Orofaciodigital syndrome 6 (C536531)
..Orofaciodigital syndrome 8 (C557820)
..Orofaciodigital syndrome 9 (C557818)
..Orofaciodigital syndrome type1 (C537134)
..Orofaciodigital Syndrome VII (C563104)
..Orofaciodigital Syndrome X (C563491)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8347

Name:

Orofaciodigital syndrome type1

Definition:

Alternative IDs:

OMIM:311200

ParentIDs:

MESH:D009958

TreeNumbers:

C05.116.099.370.652/C537134 |C05.660.207.700/C537134 |C16.131.077.677/C537134 |C16.131.260.830.670/C537134 |C16.131.621.207.700/C537134 |C16.320.180.830.670/C537134

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C537134
MeSH: C537134
OMIM: 311200;

Genes: OFD1;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0001317	Abnormal cerebellum morphology
4	HP:0002536	Abnormal cortical gyration
5	HP:0001627	Abnormal heart morphology
6	HP:0001780	Abnormality of toe
7	HP:0001274	Agenesis of corpus callosum
8	HP:0006349	Agenesis of permanent teeth
9	HP:0001596	Alopecia
10	HP:0009085	Alveolar ridge overgrowth
11	HP:0100702	Arachnoid cyst
12	HP:0010297	Bifid tongue	HP:0040282
13	HP:0001156	Brachydactyly
14	HP:0000670	Carious teeth
15	HP:0000175	Cleft palate
16	HP:0030084	Clinodactyly
17	HP:0000494	Downslanted palpebral fissures
18	HP:0006297	Enamel hypoplasia
19	HP:0000286	Epicanthus
20	HP:0000324	Facial asymmetry
21	HP:0002007	Frontal bossing
22	HP:0000365	Hearing impairment
23	HP:0001407	Hepatic cysts
24	HP:0001395	Hepatic fibrosis
25	HP:0000218	High palate
26	HP:0000238	Hydrocephalus
27	HP:0000316	Hypertelorism
28	HP:0000822	Hypertension
29	HP:0002444	Hypothalamic hamartoma
30	HP:0001249	Intellectual disability
31	HP:0000180	Lobulated tongue
32	HP:0000369	Low-set ears
33	HP:0000161	Median cleft lip
34	HP:0000252	Microcephaly
35	HP:0000308	Microretrognathia
36	HP:0001056	Milia
37	HP:0002475	Myelomeningocele	HP:0040283
38	HP:0002281	obsolete Gray matter heterotopias
39	HP:0000138	Ovarian cyst
40	HP:0001737	Pancreatic cysts	HP:0040284
41	HP:0000113	Polycystic kidney dysplasia
42	HP:0010442	Polydactyly
43	HP:0002132	Porencephalic cyst
44	HP:0000093	Proteinuria
45	HP:0009466	Radial deviation of finger
46	HP:0001250	Seizure
47	HP:0004322	Short stature
48	HP:0008070	Sparse hair
49	HP:0011069	Supernumerary tooth
50	HP:0001159	Syndactyly
51	HP:0000506	Telecanthus
52	HP:0000199	Tongue nodules
53	HP:0000430	Underdeveloped nasal alae
54	HP:0000431	Wide nasal bridge

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_003611.2(OFD1):c.(?_-360)_828+?del	8481	OFD1	Pathogenic	-1	RCV000033949;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13752831	13765072	NM_003611.2:c.(?_-360)_828+?del			dbVar:nssv7487235,dbVar:nsv1197532	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.(?_-311)_1542+?del	8481	OFD1	Pathogenic	-1	RCV000033950;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13752832	13775909	NM_003611.2:c.(?_-311)_1542+?del			dbVar:nssv7487179,dbVar:nsv1197533	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.-296G>T	8481	OFD1	Benign	2285635	RCV000034056;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13752895	13752895	NM_003611.2:c.-296G>T		NC_000023.10:g.13752895G>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.43_44delAG (p.Gln16Argfs)	8481	OFD1	Pathogenic	312262806	RCV000034023;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13753397	13753398	NM_003611.2:c.43_44delAG	NP_003602.1:p.Gln16Argfs	NC_000023.10:g.13753397_13753398delAG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.65dupA (p.Leu23Alafs)	8481	OFD1	Pathogenic	312262807	RCV000034036;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13753419	13753419	NM_003611.2:c.65dupA	NP_003602.1:p.Leu23Alafs	NC_000023.10:g.13753419dupA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.111G>A (p.Lys37=)	8481	OFD1	Pathogenic	312262808	RCV000033959;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13753465	13753465	NM_003611.2:c.111G>A	NP_003602.1:p.Lys37=	NC_000023.10:g.13753465G>A,NC_000023.10:g.13753465G>C	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.111G>C (p.Lys37Asn)	8481	OFD1	Pathogenic	312262808	RCV000033960;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13753465	13753465	NM_003611.2:c.111G>C	NP_003602.1:p.Lys37Asn	NC_000023.10:g.13753465G>A,NC_000023.10:g.13753465G>C	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.111+2T>C	8481	OFD1	Pathogenic	312262809	RCV000033957; RCV000080338;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN221809	X	13753467	13753467	NM_003611.2:c.111+2T>C		NC_000023.10:g.13753467T>C	HGMD:CS085069	CN221809 not provided; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.111+3A>G	8481	OFD1	Benign	312262804	RCV000033958;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13753468	13753468	NM_003611.2:c.111+3A>G		NC_000023.10:g.13753468A>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.121C>T (p.Arg41Ter)	8481	OFD1	Pathogenic	312262810	RCV000033965;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754606	13754606	NM_003611.2:c.121C>T	NP_003602.1:p.Arg41Ter	NC_000023.10:g.13754606C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.162_166delTGGAG (p.Ser54Argfs)	8481	OFD1	Pathogenic	312262811	RCV000033983;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754647	13754651	NM_003611.2:c.162_166delTGGAG	NP_003602.1:p.Ser54Argfs	NC_000023.10:g.13754647_13754651delTGGAG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.221C>T (p.Ser74Phe)	8481	OFD1	Pathogenic	312262812	RCV000033993;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754706	13754706	NM_003611.2:c.221C>T	NP_003602.1:p.Ser74Phe	NC_000023.10:g.13754706C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.224A>C (p.Asn75Thr)	8481	OFD1	Pathogenic	312262813	RCV000033994;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754709	13754709	NM_003611.2:c.224A>C	NP_003602.1:p.Asn75Thr	NC_000023.10:g.13754709A>C	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.231A>C (p.Leu77Phe)	8481	OFD1	Uncertain significance	587784232	RCV000146982;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754716	13754716	NM_003611.2:c.231A>C	NP_003602.1:p.Leu77Phe	NC_000023.10:g.13754716A>C	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.235G>A (p.Ala79Thr)	8481	OFD1	Pathogenic	312262814	RCV000033998;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754720	13754720	NM_003611.2:c.235G>A	NP_003602.1:p.Ala79Thr	NC_000023.10:g.13754720G>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.241C>G (p.His81Asp)	8481	OFD1	Pathogenic	312262815	RCV000033999;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754726	13754726	NM_003611.2:c.241C>G	NP_003602.1:p.His81Asp	NC_000023.10:g.13754726C>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.243C>G (p.His81Gln)	8481	OFD1	Pathogenic	312262816	RCV000034000;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754728	13754728	NM_003611.2:c.243C>G	NP_003602.1:p.His81Gln	NC_000023.10:g.13754728C>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.247C>T (p.Gln83Ter)	8481	OFD1	Pathogenic	312262817	RCV000034001;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754732	13754732	NM_003611.2:c.247C>T	NP_003602.1:p.Gln83Ter	NC_000023.10:g.13754732C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys)	8481	OFD1	Pathogenic	312262818	RCV000034002;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754745	13754745	NM_003611.2:c.260A>G	NP_003602.1:p.Tyr87Cys	NC_000023.10:g.13754745A>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.274T>C (p.Ser92Pro)	8481	OFD1	Pathogenic	312262819	RCV000034003;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754759	13754759	NM_003611.2:c.274T>C	NP_003602.1:p.Ser92Pro	NC_000023.10:g.13754759T>C	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.290A>G (p.Glu97Gly)	8481	OFD1	Pathogenic	312262820	RCV000034006;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754775	13754775	NM_003611.2:c.290A>G	NP_003602.1:p.Glu97Gly	NC_000023.10:g.13754775A>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.294_312del19 (p.Ser98Argfs)	8481	OFD1	Pathogenic	312262821	RCV000034007;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754779	13754797	NM_003611.2:c.294_312del19	NP_003602.1:p.Ser98Argfs	NC_000023.10:g.13754779_13754797del19	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.312delG (p.Val105Tyrfs)	8481	OFD1	Pathogenic	312262822	RCV000012294;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754797	13754797	NM_003611.2:c.312delG	NP_003602.1:p.Val105Tyrfs	NC_000023.10:g.13754797delG	OMIM Allelic Variant:300170.0002	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.312+2_312+8delTAAAGTC	8481	OFD1	Pathogenic	397507557	RCV000034008;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13754799	13754805	NM_003611.2:c.312+2_312+8delTAAAGTC		NC_000023.10:g.13754799_13754805delTAAAGTC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs)	8481	OFD1	Pathogenic	312262823	RCV000034010;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13756965	13756965	NM_003611.2:c.313dupG	NP_003602.1:p.Val105Glyfs	NC_000023.10:g.13756965dupG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.337C>T (p.Gln113Ter)	8481	OFD1	Pathogenic	312262825	RCV000034011;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13756989	13756989	NM_003611.2:c.337C>T	NP_003602.1:p.Gln113Ter	NC_000023.10:g.13756989C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.355C>A (p.Pro119Thr)	8481	OFD1	Likely benign	202103941	RCV000205740;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757007	13757007	NM_003611.2:c.355C>A	NP_003602.1:p.Pro119Thr		-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.372C>G (p.Tyr124Ter)	8481	OFD1	Pathogenic	312262826	RCV000034012;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757024	13757024	NM_003611.2:c.372C>G	NP_003602.1:p.Tyr124Ter	NC_000023.10:g.13757024C>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.382-3C>G	8481	OFD1	Pathogenic	312262828	RCV000034015;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757118	13757118	NM_003611.2:c.382-3C>G		NC_000023.10:g.13757118C>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.382-2A>G	8481	OFD1	Pathogenic	312262829	RCV000034014;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757119	13757119	NM_003611.2:c.382-2A>G		NC_000023.10:g.13757119A>G	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.382-?_412+?del	8481	OFD1	Pathogenic	-1	RCV000034013;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757121	13757151	NM_003611.2:c.382-?_412+?del			-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs)	8481	OFD1	Pathogenic	312262830	RCV000034016;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757139	13757142	NM_003611.2:c.400_403delGAAA	NP_003602.1:p.Glu134Ilefs	NC_000023.10:g.13757139_13757142delGAAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.411delA (p.Gly138Valfs)	8481	OFD1	Pathogenic	312262831	RCV000034017;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757150	13757150	NM_003611.2:c.411delA	NP_003602.1:p.Gly138Valfs	NC_000023.10:g.13757150delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.412G>A (p.Gly138Ser)	8481	OFD1	Pathogenic	312262827	RCV000034019;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757151	13757151	NM_003611.2:c.412G>A	NP_003602.1:p.Gly138Ser	NC_000023.10:g.13757151G>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.412+2delT	8481	OFD1	Pathogenic	312262832	RCV000034018;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757153	13757153	NM_003611.2:c.412+2delT		NC_000023.10:g.13757153delT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.413-10T>G	8481	OFD1	Pathogenic	312262833	RCV000012296;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13762524	13762524	NM_003611.2:c.413-10T>G		NC_000023.10:g.13762524T>G	OMIM Allelic Variant:300170.0004	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.431T>A (p.Leu144Ter)	8481	OFD1	Pathogenic	312262835	RCV000034021;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13762552	13762552	NM_003611.2:c.431T>A	NP_003602.1:p.Leu144Ter	NC_000023.10:g.13762552T>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.431dupT (p.Leu144Phefs)	8481	OFD1	Pathogenic	312262834	RCV000034022;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13762552	13762552	NM_003611.2:c.431dupT	NP_003602.1:p.Leu144Phefs	NC_000023.10:g.13762552dupT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.454C>T (p.Gln152Ter)	8481	OFD1	Pathogenic	312262836	RCV000034025;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13762575	13762575	NM_003611.2:c.454C>T	NP_003602.1:p.Gln152Ter	NC_000023.10:g.13762575C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.518-?_935+?del	8481	OFD1	Pathogenic	-1	RCV000034026;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764438	13767652	NM_003611.2:c.518-?_935+?del			dbVar:nssv7487188,dbVar:nsv1197534	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.594_598delAAAGC (p.Leu200Terfs)	8481	OFD1	Pathogenic	312262837	RCV000034027;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764514	13764518	NM_003611.2:c.594_598delAAAGC	NP_003602.1:p.Leu200Terfs	NC_000023.10:g.13764514_13764518delAAAGC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.602delA (p.Asn201Metfs)	8481	OFD1	Pathogenic	312262838	RCV000034028;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764522	13764522	NM_003611.2:c.602delA	NP_003602.1:p.Asn201Metfs	NC_000023.10:g.13764522delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.615_620delAGAAAT (p.Ile207_Glu208del)	8481	OFD1	Pathogenic	312262839	RCV000034029;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764535	13764540	NM_003611.2:c.615_620delAGAAAT	NP_003602.1:p.Ile207_Glu208del	NC_000023.10:g.13764535_13764540delAGAAAT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.616_617delGA (p.Glu206Asnfs)	8481	OFD1	Pathogenic	312262840	RCV000034030;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764536	13764537	NM_003611.2:c.616_617delGA	NP_003602.1:p.Glu206Asnfs	NC_000023.10:g.13764536_13764537delGA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.628C>T (p.Gln210Ter)	8481	OFD1	Pathogenic	312262841	RCV000034031;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764548	13764548	NM_003611.2:c.628C>T	NP_003602.1:p.Gln210Ter	NC_000023.10:g.13764548C>T	-	C1510460 311200 Oral-facial-digital syndrome
NG_008872.1:g.16740_20819del4080	8481	OFD1	Pathogenic	-1	RCV000012298;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764571	13768650	-	-		OMIM Allelic Variant:300170.0006,dbVar:nssv3761568,dbVar:nsv1067922	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.653delA (p.Lys218Serfs)	8481	OFD1	Pathogenic	312262842	RCV000034033;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764573	13764573	NM_003611.2:c.653delA	NP_003602.1:p.Lys218Serfs	NC_000023.10:g.13764573delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.654+2_654+4delTAA	8481	OFD1	Pathogenic	397507558	RCV000034035;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764576	13764578	NM_003611.2:c.654+2_654+4delTAA		NC_000023.10:g.13764576_13764578delTAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.654+29G>A	8481	OFD1	Benign	312262805	RCV000034034;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764603	13764603	NM_003611.2:c.654+29G>A		NC_000023.10:g.13764603G>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.675delC (p.Glu226Argfs)	8481	OFD1	Pathogenic	312262844	RCV000034037;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764919	13764919	NM_003611.2:c.675delC	NP_003602.1:p.Glu226Argfs	NC_000023.10:g.13764919delC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)	8481	OFD1	Pathogenic	312262846	RCV000034039;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764951	13764963	NM_003611.2:c.707_719delAAAAGTATGAAAA	NP_003602.1:p.Lys236Argfs	NC_000023.10:g.13764951_13764963delAAAAGTATGAAAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.709_710delAA (p.Lys237Valfs)	8481	OFD1	Pathogenic	312262847	RCV000034040;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764953	13764954	NM_003611.2:c.709_710delAA	NP_003602.1:p.Lys237Valfs	NC_000023.10:g.13764953_13764954delAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs)	8481	OFD1	Pathogenic	312262848	RCV000034041;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764954	13764954	NM_003611.2:c.710delA	NP_003602.1:p.Lys237Serfs	NC_000023.10:g.13764954delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.710dupA (p.Tyr238Valfs)	8481	OFD1	Pathogenic	312262845	RCV000034042;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764954	13764954	NM_003611.2:c.710dupA	NP_003602.1:p.Tyr238Valfs	NC_000023.10:g.13764954dupA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.712delT (p.Tyr238Metfs)	8481	OFD1	Pathogenic	312262849	RCV000034043;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13764956	13764956	NM_003611.2:c.712delT	NP_003602.1:p.Tyr238Metfs	NC_000023.10:g.13764956delT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.790dupG (p.Glu264Glyfs)	8481	OFD1	Pathogenic	312262850	RCV000034044;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13765034	13765034	NM_003611.2:c.790dupG	NP_003602.1:p.Glu264Glyfs	NC_000023.10:g.13765034dupG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.823C>T (p.Gln275Ter)	8481	OFD1	Pathogenic	312262851	RCV000034045;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13765067	13765067	NM_003611.2:c.823C>T	NP_003602.1:p.Gln275Ter	NC_000023.10:g.13765067C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.837_841delAAAAG (p.Lys280Asnfs)	8481	OFD1	Pathogenic	312262853	RCV000034047;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767554	13767558	NM_003611.2:c.837_841delAAAAG	NP_003602.1:p.Lys280Asnfs	NC_000023.10:g.13767554_13767558delAAAAG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.839_840delAA (p.Lys280Argfs)	8481	OFD1	Pathogenic	312262852	RCV000034048;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767556	13767557	NM_003611.2:c.839_840delAA	NP_003602.1:p.Lys280Argfs	NC_000023.10:g.13767556_13767557delAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.843_844delAA (p.Glu281Aspfs)	8481	OFD1	Pathogenic	312262855	RCV000034049;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767560	13767561	NM_003611.2:c.843_844delAA	NP_003602.1:p.Glu281Aspfs	NC_000023.10:g.13767560_13767561delAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.858delG (p.Arg286Serfs)	8481	OFD1	Pathogenic	312262856	RCV000034050;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767575	13767575	NM_003611.2:c.858delG	NP_003602.1:p.Arg286Serfs	NC_000023.10:g.13767575delG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.871A>T (p.Lys291Ter)	8481	OFD1	Pathogenic	312262857	RCV000034051;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767588	13767588	NM_003611.2:c.871A>T	NP_003602.1:p.Lys291Ter	NC_000023.10:g.13767588A>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs)	8481	OFD1	Pathogenic	312262858	RCV000034052;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767594	13767595	NM_003611.2:c.877_878delAT	NP_003602.1:p.Met293Glyfs	NC_000023.10:g.13767594_13767595delAT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.898_899dupGA (p.Ala301Lysfs)	8481	OFD1	Pathogenic	312262859	RCV000034053;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767615	13767616	NM_003611.2:c.898_899dupGA	NP_003602.1:p.Ala301Lysfs	NC_000023.10:g.13767615_13767616dupGA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.919delG (p.Val307Leufs)	8481	OFD1	Pathogenic	312262860	RCV000034054;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13767636	13767636	NM_003611.2:c.919delG	NP_003602.1:p.Val307Leufs	NC_000023.10:g.13767636delG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.936-?_1129+?del	8481	OFD1	Pathogenic	-1	RCV000034055;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13769368	13771560	NM_003611.2:c.936-?_1129+?del			dbVar:nssv7487145,dbVar:nsv1197535	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs)	8481	OFD1	Uncertain significance	864622390	RCV000204073;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13769439	13769439	NM_003611.2:c.1007dupA	NP_003602.1:p.Ser337Glufs		-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1056-2A>T	8481	OFD1	Pathogenic	312262861	RCV000033952;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13771485	13771485	NM_003611.2:c.1056-2A>T		NC_000023.10:g.13771485A>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr)	8481	OFD1	Pathogenic	312262862	RCV000033954;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13771502	13771509	NM_003611.2:c.1071_1078delGAAGGATGinsTTTTTCCT	NP_003602.1:p.Lys358_Asp360delinsPheSerTyr	NC_000023.10:g.13771502_13771509delGAAGGATGinsTTTTTCCT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter)	8481	OFD1	Pathogenic	312262863	RCV000033955;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13771530	13771530	NM_003611.2:c.1099C>T	NP_003602.1:p.Arg367Ter	NC_000023.10:g.13771530C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln)	8481	OFD1	Pathogenic	312262864	RCV000033956;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13771531	13771531	NM_003611.2:c.1100G>A	NP_003602.1:p.Arg367Gln	NC_000023.10:g.13771531G>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1130-22_1130-19delAATT	8481	OFD1	Pathogenic	312262865	RCV000033961;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13773248	13773251	NM_003611.2:c.1130-22_1130-19delAATT		NC_000023.10:g.13773248_13773251delAATT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1178dupA (p.Glu394Glyfs)	8481	OFD1	Pathogenic	312262866	RCV000033962;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13773318	13773318	NM_003611.2:c.1178dupA	NP_003602.1:p.Glu394Glyfs	NC_000023.10:g.13773318dupA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1185delA (p.Glu395Aspfs)	8481	OFD1	Pathogenic	312262867	RCV000033963;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13773325	13773325	NM_003611.2:c.1185delA	NP_003602.1:p.Glu395Aspfs	NC_000023.10:g.13773325delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs)	8481	OFD1	Pathogenic	312262868	RCV000033964; RCV000146976;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN221809	X	13773333	13773336	NM_003611.2:c.1193_1196delAATC	NP_003602.1:p.Gln398Leufs	NC_000023.10:g.13773333_13773336delAATC	-	CN221809 not provided; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1220_1221+1delAGG	8481	OFD1	Pathogenic	312262869	RCV000033966;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13773360	13773362	NM_003611.2:c.1220_1221+1delAGG		NC_000023.10:g.13773360_13773362delAGG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1221+1delG	8481	OFD1	Pathogenic	312262870	RCV000033967;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13773362	13773362	NM_003611.2:c.1221+1delG		NC_000023.10:g.13773362delG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1268_1272delAAAAC (p.Gln423Profs)	8481	OFD1	Pathogenic	312262871	RCV000033969;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774743	13774747	NM_003611.2:c.1268_1272delAAAAC	NP_003602.1:p.Gln423Profs	NC_000023.10:g.13774743_13774747delAAAAC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu)	8481	OFD1	Uncertain significance	142352920	RCV000168046;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774769	13774769	NM_003611.2:c.1294A>G	NP_003602.1:p.Lys432Glu	NC_000023.10:g.13774769A>G	-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg)	8481	OFD1	Pathogenic	122460150	RCV000012293;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774778	13774778	NM_003611.2:c.1303A>C	NP_003602.1:p.Ser435Arg	NC_000023.10:g.13774778A>C	OMIM Allelic Variant:300170.0001	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1318delC (p.Leu440Terfs)	8481	OFD1	Pathogenic	312262872	RCV000033971;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774793	13774793	NM_003611.2:c.1318delC	NP_003602.1:p.Leu440Terfs	NC_000023.10:g.13774793delC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1319delT (p.Leu440Glnfs)	8481	OFD1	Pathogenic	312262873	RCV000033972;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774794	13774794	NM_003611.2:c.1319delT	NP_003602.1:p.Leu440Glnfs	NC_000023.10:g.13774794delT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1322_1326delAAGAA (p.Lys441Argfs)	8481	OFD1	Pathogenic	312262874	RCV000033973;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774797	13774801	NM_003611.2:c.1322_1326delAAGAA	NP_003602.1:p.Lys441Argfs	NC_000023.10:g.13774797_13774801delAAGAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1323_1326delAGAA (p.Glu442Argfs)	8481	OFD1	Pathogenic	312262875	RCV000033974;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774798	13774801	NM_003611.2:c.1323_1326delAGAA	NP_003602.1:p.Glu442Argfs	NC_000023.10:g.13774798_13774801delAGAA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1334_1335delTG (p.Leu445Argfs)	8481	OFD1	Pathogenic	312262876	RCV000033975;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774809	13774810	NM_003611.2:c.1334_1335delTG	NP_003602.1:p.Leu445Argfs	NC_000023.10:g.13774809_13774810delTG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1358T>A (p.Leu453Ter)	8481	OFD1	Pathogenic	312262877	RCV000033976;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774833	13774833	NM_003611.2:c.1358T>A	NP_003602.1:p.Leu453Ter	NC_000023.10:g.13774833T>A	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1360_1363delCTTA (p.Leu454Asnfs)	8481	OFD1	Pathogenic	312262878	RCV000033977;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774835	13774838	NM_003611.2:c.1360_1363delCTTA	NP_003602.1:p.Leu454Asnfs	NC_000023.10:g.13774835_13774838delCTTA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser)	8481	OFD1	Uncertain significance	140561107	RCV000196961;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774874	13774874	NM_003611.2:c.1399C>A	NP_003602.1:p.Arg467Ser	NC_000023.10:g.13774874C>A,NC_000023.10:g.13774874C>T	-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1409delA (p.Asn470Thrfs)	8481	OFD1	Pathogenic	312262879	RCV000033978;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774884	13774884	NM_003611.2:c.1409delA	NP_003602.1:p.Asn470Thrfs	NC_000023.10:g.13774884delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter)	8481	OFD1	Pathogenic	312262880	RCV000033979;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13775787	13775787	NM_003611.2:c.1420C>T	NP_003602.1:p.Gln474Ter	NC_000023.10:g.13775787C>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1445_1446delTT (p.Phe482Serfs)	8481	OFD1	Pathogenic	312262881	RCV000033980;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13775812	13775813	NM_003611.2:c.1445_1446delTT	NP_003602.1:p.Phe482Serfs	NC_000023.10:g.13775812_13775813delTT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1452_1458delAGAACTA (p.Lys484Asnfs)	8481	OFD1	Pathogenic	312262882	RCV000033981;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13775819	13775825	NM_003611.2:c.1452_1458delAGAACTA	NP_003602.1:p.Lys484Asnfs	NC_000023.10:g.13775819_13775825delAGAACTA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1587delA (p.Ala530Leufs)	8481	OFD1	Pathogenic	312262883	RCV000033982;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13776500	13776500	NM_003611.2:c.1587delA	NP_003602.1:p.Ala530Leufs	NC_000023.10:g.13776500delA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1757delG (p.Ser586Metfs)	8481	OFD1	Pathogenic	312262884	RCV000033984;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778336	13778336	NM_003611.2:c.1757delG	NP_003602.1:p.Ser586Metfs	NC_000023.10:g.13778336delG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1821delG (p.Ile608Serfs)	8481	OFD1	Pathogenic	312262885	RCV000033985;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778400	13778400	NM_003611.2:c.1821delG	NP_003602.1:p.Ile608Serfs	NC_000023.10:g.13778400delG	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs)	8481	OFD1	Pathogenic	312262886	RCV000012297;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778466	13778467	NM_003611.2:c.1887_1888insAT	NP_003602.1:p.Asn630Ilefs	NC_000023.10:g.13778466_13778467insAT	OMIM Allelic Variant:300170.0005	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1923G>A (p.Glu641=)	8481	OFD1	Benign;Likely benign	145300245	RCV000033987; RCV000080341; RCV000206456;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374	X	13778502	13778502	NM_003611.2:c.1923G>A	NP_003602.1:p.Glu641=	NC_000023.10:g.13778502G>A	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1979_1980delCT (p.Ser660Cysfs)	8481	OFD1	Pathogenic	312262887	RCV000033988;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778558	13778559	NM_003611.2:c.1979_1980delCT	NP_003602.1:p.Ser660Cysfs	NC_000023.10:g.13778558_13778559delCT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2044dupA (p.Ile682Asnfs)	8481	OFD1	Pathogenic	312262888	RCV000033989;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778623	13778623	NM_003611.2:c.2044dupA	NP_003602.1:p.Ile682Asnfs	NC_000023.10:g.13778623dupA	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2056delT (p.Ser686Profs)	8481	OFD1	Pathogenic	312262889	RCV000033990;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778635	13778635	NM_003611.2:c.2056delT	NP_003602.1:p.Ser686Profs	NC_000023.10:g.13778635delT	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2123_2126dupAAGA (p.Asn711Lysfs)	8481	OFD1	Pathogenic	312262890	RCV000033991; RCV000012299;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C1846175,OMIM:300209,ORPHA:79022	X	13778702	13778705	NM_003611.2:c.2123_2126dupAAGA	NP_003602.1:p.Asn711Lysfs	NC_000023.10:g.13778702_13778705dupAAGA	OMIM Allelic Variant:300170.0007	C1510460 311200 Oral-facial-digital syndrome; C1846175 300209 Simpson-Golabi-Behmel syndrome, type 2
NM_003611.2(OFD1):c.2176delC (p.Arg726Alafs)	8481	OFD1	Pathogenic	312262891	RCV000033992;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13778755	13778755	NM_003611.2:c.2176delC	NP_003602.1:p.Arg726Alafs	NC_000023.10:g.13778755delC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2261-1G>T	8481	OFD1	Pathogenic	312262892	RCV000033995;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13779203	13779203	NM_003611.2:c.2261-1G>T		NC_000023.10:g.13779203G>T	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2261-?_2387+?del	8481	OFD1	Pathogenic	-1	RCV000033996;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13779204	13779330	NM_003611.2:c.2261-?_2387+?del			-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2349delC (p.Ile784Serfs)	8481	OFD1	Pathogenic	312262893	RCV000033997;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13779292	13779292	NM_003611.2:c.2349delC	NP_003602.1:p.Ile784Serfs	NC_000023.10:g.13779292delC	-	C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2376G>A (p.Glu792=)	8481	OFD1	Benign	183241931	RCV000146983; RCV000205304;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374	X	13779319	13779319	NM_003611.2:c.2376G>A	NP_003602.1:p.Glu792=	NC_000023.10:g.13779319G>A	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs)	8481	OFD1	Pathogenic	312262894	RCV000034004; RCV000012301;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804	X	13786182	13786182	NM_003611.2:c.2767delG	NP_003602.1:p.Glu923Lysfs	NC_000023.10:g.13786182delG	OMIM Allelic Variant:300170.0009	C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs)	8481	OFD1	Pathogenic	312262895	RCV000034005; RCV000012300;	N	MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804	X	13786256	13786262	NM_003611.2:c.2841_2847delAAAAGAC	NP_003602.1:p.Lys948Asnfs	NC_000023.10:g.13786256_13786262delAAAAGAC	OMIM Allelic Variant:300170.0008	C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome