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: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson Chorioretinal Atrophy (C566236)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3012

Name:

Corneal Dystrophy, Crystalline, of Schnyder

Definition:

Alternative IDs:

DO:DOID:0060456|OMIM:121800

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C535475 |C11.270.162/C535475 |C16.320.290.162/C535475

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C535475
MeSH: C535475
OMIM: 121800;
MSeqDR :
Genes: UBIAD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001131	Corneal dystrophy
3	HP:0007760	Crystalline corneal dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_013319.2(UBIAD1):c.-337C>T	29914	UBIAD1	Uncertain significance	547031506	RCV000322246;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333252	11333252	1:g.11333252C>T	ClinGen:CA10654421	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.-311C>T	29914	UBIAD1	Uncertain significance	886045057	RCV000298203;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333278	11333278	NC_000001.10:g.11333278C>T	ClinGen:CA10607525	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.-310C>T	29914	UBIAD1	Uncertain significance	1471509365	RCV001096648;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333279	11333279	1:g.11333279C>T	-
NM_013319.3(UBIAD1):c.-195G>A	29914	UBIAD1	Benign	114907127	RCV000359966;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333394	11333394	NC_000001.10:g.11333394G>A	ClinGen:CA10607319	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.-104G>A	29914	UBIAD1	Uncertain significance	559993089	RCV000267590;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333485	11333485	NC_000001.10:g.11333485G>A	ClinGen:CA10607526	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.-86G>C	29914	UBIAD1	Uncertain significance	948937923	RCV001096649;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333503	11333503	1:g.11333503G>C	-
NM_013319.3(UBIAD1):c.-78G>C	29914	UBIAD1	Uncertain significance	533754690	RCV001096650;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333511	11333511	1:g.11333511G>C	-
NM_013319.3(UBIAD1):c.-47T>G	29914	UBIAD1	Benign	72856992	RCV000320369;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333542	11333542	NC_000001.10:g.11333542T>G	ClinGen:CA591058	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.-4T>C	29914	UBIAD1	Uncertain significance	770112579	RCV000377189;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333585	11333585	NC_000001.10:g.11333585T>C	ClinGen:CA591074	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn)	29914	UBIAD1	Likely benign	764215999	RCV000271094;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333648	11333648	NC_000001.10:g.11333648A>C	ClinGen:CA591081	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)	29914	UBIAD1	Conflicting interpretations of pathogenicity	761963387	RCV001098378\|RCV002556005;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967\|MeSH:D030342,MedGen:C0950123	1	11333704	11333704	1:g.11333704A>G	-
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)	29914	UBIAD1	Uncertain significance	1651875842	RCV001098379;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333779	11333779	1:g.11333779C>T	-
NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)	29914	UBIAD1	Benign	114000606	RCV000329450\|RCV002519369;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967\|MedGen:C3661900	1	11333812	11333812	NC_000001.10:g.11333812C>T	ClinGen:CA591108,UniProtKB:Q9Y5Z9#VAR_043713	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp)	29914	UBIAD1	Likely benign	201583978	RCV001098380;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333818	11333818	1:g.11333818G>A	-
NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)	29914	UBIAD1	Benign/Likely benign	140612649	RCV000381691\|RCV002522049;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967\|MedGen:C3661900	1	11333886	11333886	NC_000001.10:g.11333886T>G	ClinGen:CA591126	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)	29914	UBIAD1	Pathogenic	118203945	RCV000000904;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333893	11333893	1:g.11333893A>G	ClinGen:CA114575,UniProtKB:Q9Y5Z9#VAR_043714,OMIM:611632.0001	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)	29914	UBIAD1	Pathogenic	118203950	RCV000000909;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333923	11333923	1:g.11333923A>G	ClinGen:CA114580,UniProtKB:Q9Y5Z9#VAR_043715,OMIM:611632.0006	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)	29914	UBIAD1	Pathogenic	118203947	RCV000000906;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333943	11333943	1:g.11333943A>G	ClinGen:CA114577,UniProtKB:Q9Y5Z9#VAR_043717,OMIM:611632.0003	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)	29914	UBIAD1	Benign	748615089	RCV000289699;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11333958	11333958	NC_000001.10:g.11333958C>A	ClinGen:CA591134	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)	29914	UBIAD1	Benign	377764711	RCV000351714;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334005	11334005	NC_000001.10:g.11334005C>T	ClinGen:CA591140	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)	29914	UBIAD1	Benign	138443305	RCV000389691;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334040	11334040	NC_000001.10:g.11334040A>G	ClinGen:CA591149	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys)	29914	UBIAD1	Uncertain significance	886045058	RCV000293265;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334082	11334082	NC_000001.10:g.11334082T>G	ClinGen:CA10607380	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)	29914	UBIAD1	Pathogenic	118203951	RCV000000910;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334099	11334099	1:g.11334099T>C	ClinGen:CA114581,UniProtKB:Q9Y5Z9#VAR_043719,OMIM:611632.0007	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)	29914	UBIAD1	Pathogenic	118203948	RCV000000907;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334112	11334112	1:g.11334112C>T	ClinGen:CA114578,UniProtKB:Q9Y5Z9#VAR_043720,OMIM:611632.0004	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)	29914	UBIAD1	Pathogenic	118203946	RCV000000905;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11334117	11334117	1:g.11334117G>C	ClinGen:CA114576,OMIM:611632.0002	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)	29914	UBIAD1	Pathogenic	397514669	RCV000034310;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345701	11345701	1:g.11345701G>A	ClinGen:CA130837,UniProtKB:Q9Y5Z9#VAR_069267,OMIM:611632.0010	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)	29914	UBIAD1	Pathogenic	118203952	RCV000000911;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345727	11345727	1:g.11345727G>A	ClinGen:CA114582,UniProtKB:Q9Y5Z9#VAR_043722,OMIM:611632.0008	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile)	29914	UBIAD1	Uncertain significance	773070987	RCV000370908;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345771	11345771	1:g.11345771G>A	ClinGen:CA591187	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)	29914	UBIAD1	Pathogenic	118203949	RCV000000908;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345866	11345866	1:g.11345866A>G	ClinGen:CA114579,UniProtKB:Q9Y5Z9#VAR_043723,OMIM:611632.0005	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)	29914	UBIAD1	Pathogenic	118203953	RCV000000912;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345879	11345879	1:g.11345879C>G	ClinGen:CA114583,UniProtKB:Q9Y5Z9#VAR_043724,OMIM:611632.0009	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile)	29914	UBIAD1	Uncertain significance	776301691	RCV001102234;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345882	11345882	1:g.11345882G>T	-
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)	29914	UBIAD1	Likely pathogenic	371811409	RCV001731228;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345889	11345889	11345889	-
NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala)	29914	UBIAD1	Uncertain significance	1638253298	RCV001102235;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345910	11345910	1:g.11345910A>G	-
NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met)	29914	UBIAD1	Uncertain significance	371649705	RCV000274086;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345911	11345911	1:g.11345911C>T	ClinGen:CA591213	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile)	29914	UBIAD1	Uncertain significance	780282620	RCV000331536;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11345922	11345922	1:g.11345922C>A	ClinGen:CA591215	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.837C>T (p.Cys279=)	29914	UBIAD1	Benign	201111281	RCV000379604;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346008	11346008	NC_000001.10:g.11346008C>T	ClinGen:CA591235	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)	29914	UBIAD1	Benign	113307594	RCV000285093;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346038	11346038	NC_000001.10:g.11346038C>T	ClinGen:CA591245	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*18C>T	29914	UBIAD1	Benign	191663672	RCV000370217;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346206	11346206	NC_000001.10:g.11346206C>T	ClinGen:CA591272	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*48A>G	29914	UBIAD1	Benign	368504935	RCV001098586;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346236	11346236	1:g.11346236A>G	-
NM_013319.3(UBIAD1):c.*94G>A	29914	UBIAD1	Uncertain significance	535726476	RCV000401521;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346282	11346282	NC_000001.10:g.11346282G>A	ClinGen:CA10607383	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*148A>G	29914	UBIAD1	Benign	11580061	RCV000297865;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346336	11346336	NC_000001.10:g.11346336A>G	ClinGen:CA10607384	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*170T>G	29914	UBIAD1	Uncertain significance	1399081788	RCV001098587;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346358	11346358	1:g.11346358T>G	-
NM_013319.3(UBIAD1):c.221_223del	29914	UBIAD1	Uncertain significance	886045069	RCV000357457;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346407	11346409	NC_000001.10:g.11346409_11346411del	ClinGen:CA10607326	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*234C>T	29914	UBIAD1	Uncertain significance	1057311020	RCV001100350;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346422	11346422	1:g.11346422C>T	-
NM_013319.3(UBIAD1):c.*239G>A	29914	UBIAD1	Uncertain significance	766089759	RCV000262219;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346427	11346427	NC_000001.10:g.11346427G>A	ClinGen:CA10607389	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*247T>C	29914	UBIAD1	Uncertain significance	886045070	RCV000322020;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346435	11346435	NC_000001.10:g.11346435T>C	ClinGen:CA10607327	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*295G>A	29914	UBIAD1	Uncertain significance	904203949	RCV001100352;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346483	11346483	1:g.11346483G>A	-
NM_013319.3(UBIAD1):c.*420C>T	29914	UBIAD1	Benign	112789142	RCV000358216;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346608	11346608	NC_000001.10:g.11346608C>T	ClinGen:CA10607390	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.465_466del	29914	UBIAD1	Uncertain significance	777958656	RCV000268207;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346653	11346654	NC_000001.10:g.11346653_11346654del	ClinGen:CA10607402	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*467G>A	29914	UBIAD1	Benign	112285480	RCV001100353;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346655	11346655	1:g.11346655G>A	-
NM_013319.3(UBIAD1):c.*519G>A	29914	UBIAD1	Uncertain significance	937500463	RCV001100354;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346707	11346707	1:g.11346707G>A	-
NM_013319.3(UBIAD1):c.*531C>A	29914	UBIAD1	Uncertain significance	550736303	RCV000323298;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346719	11346719	NC_000001.10:g.11346719C>A	ClinGen:CA10607403	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*552G>A	29914	UBIAD1	Benign	111991610	RCV000382607;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346740	11346740	NC_000001.10:g.11346740G>A	ClinGen:CA10607328	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*612T>C	29914	UBIAD1	Uncertain significance	886045071	RCV000288346;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346800	11346800	NC_000001.10:g.11346800T>C	ClinGen:CA10607405	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*619A>G	29914	UBIAD1	Uncertain significance	886045072	RCV000329309;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346807	11346807	NC_000001.10:g.11346807A>G	ClinGen:CA10607536	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*675A>G	29914	UBIAD1	Uncertain significance	376227906	RCV000383235;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346863	11346863	NC_000001.10:g.11346863A>G	ClinGen:CA10607409	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*684C>A	29914	UBIAD1	Benign	375520410	RCV000293583;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346872	11346872	NC_000001.10:g.11346872C>A	ClinGen:CA10607329	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*709C>T	29914	UBIAD1	Uncertain significance	752647371	RCV001102333;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11346897	11346897	1:g.11346897C>T	-
NM_013319.3(UBIAD1):c.*819G>A	29914	UBIAD1	Benign	75287995	RCV000348372;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347007	11347007	NC_000001.10:g.11347007G>A	ClinGen:CA10607333	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*847A>T	29914	UBIAD1	Uncertain significance	886045073	RCV000389017;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347035	11347035	NC_000001.10:g.11347035A>T	ClinGen:CA10607455	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*904T>C	29914	UBIAD1	Benign	3765906	RCV000294531;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347092	11347092	NC_000001.10:g.11347092T>C	ClinGen:CA10607335	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.969_970insTTTG	29914	UBIAD1	Benign	3063961	RCV000335467;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347155	11347156	NC_000001.10:g.11347157_11347158insTTTG	ClinGen:CA10607456	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*990T>C	29914	UBIAD1	Uncertain significance	1638286979	RCV001096934;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347178	11347178	1:g.11347178T>C	-
NM_013319.3(UBIAD1):c.*997C>T	29914	UBIAD1	Uncertain significance	886045074	RCV000393271;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347185	11347185	NC_000001.10:g.11347185C>T	ClinGen:CA10607540	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1010C>T	29914	UBIAD1	Uncertain significance	886045075	RCV000337070;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347198	11347198	NC_000001.10:g.11347198C>T	ClinGen:CA10607544	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1060G>A	29914	UBIAD1	Benign	115210853	RCV000398620;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347248	11347248	NC_000001.10:g.11347248G>A	ClinGen:CA10607546	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1167C>T	29914	UBIAD1	Uncertain significance	886045076	RCV000301858;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347355	11347355	NC_000001.10:g.11347355C>T	ClinGen:CA10607336	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1189A>G	29914	UBIAD1	Uncertain significance	776390306	RCV001096935;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347377	11347377	1:g.11347377A>G	-
NM_013319.3(UBIAD1):c.*1228A>G	29914	UBIAD1	Uncertain significance	917463872	RCV001098681;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347416	11347416	1:g.11347416A>G	-
NM_013319.3(UBIAD1):c.*1265T>A	29914	UBIAD1	Uncertain significance	372234308	RCV000361232;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347453	11347453	NC_000001.10:g.11347453T>A	ClinGen:CA10607547	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1304C>T	29914	UBIAD1	Benign	17036631	RCV000266840;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347492	11347492	NC_000001.10:g.11347492C>T	ClinGen:CA10607553	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1426C>T	29914	UBIAD1	Uncertain significance	886045077	RCV000307956;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347614	11347614	NC_000001.10:g.11347614C>T	ClinGen:CA10607339	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1427T>C	29914	UBIAD1	Uncertain significance	886045078	RCV000362554;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347615	11347615	NC_000001.10:g.11347615T>C	ClinGen:CA10607554	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1459T>A	29914	UBIAD1	Uncertain significance	886045079	RCV000272715;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347647	11347647	NC_000001.10:g.11347647T>A	ClinGen:CA10607342	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1494A>G	29914	UBIAD1	Uncertain significance	868102858	RCV000331382;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347682	11347682	NC_000001.10:g.11347682A>G	ClinGen:CA10607555	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1495T>C	29914	UBIAD1	Uncertain significance	886045080	RCV000385857;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347683	11347683	NC_000001.10:g.11347683T>C	ClinGen:CA10607343	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1506T>C	29914	UBIAD1	Uncertain significance	896437124	RCV001100483;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347694	11347694	1:g.11347694T>C	-
NM_013319.3(UBIAD1):c.*1532C>T	29914	UBIAD1	Benign	77270119	RCV000277543;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347720	11347720	NC_000001.10:g.11347720C>T	ClinGen:CA10607410	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1535A>T	29914	UBIAD1	Uncertain significance	536904644	RCV000332629;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347723	11347723	NC_000001.10:g.11347723A>T	ClinGen:CA10607462	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1564C>T	29914	UBIAD1	Benign	111893018	RCV000373288;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347752	11347752	NC_000001.10:g.11347752C>T	ClinGen:CA10607345	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1565G>A	29914	UBIAD1	Uncertain significance	1028565043	RCV001100484;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347753	11347753	1:g.11347753G>A	-
NM_013319.3(UBIAD1):c.*1570G>A	29914	UBIAD1	Uncertain significance	955630598	RCV001100485;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347758	11347758	1:g.11347758G>A	-
NM_013319.3(UBIAD1):c.*1580C>T	29914	UBIAD1	Uncertain significance	961079383	RCV001100486;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347768	11347768	1:g.11347768C>T	-
NM_013319.3(UBIAD1):c.*1586C>T	29914	UBIAD1	Uncertain significance	886045081	RCV000278396;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347774	11347774	1:g.11347774C>T	ClinGen:CA10607414	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1671G>A	29914	UBIAD1	Benign	544393884	RCV000338091;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347859	11347859	1:g.11347859G>A	ClinGen:CA10607466	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1719A>G	29914	UBIAD1	Uncertain significance	886045082	RCV000374053;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347907	11347907	1:g.11347907A>G	ClinGen:CA10607556	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1779C>T	29914	UBIAD1	Uncertain significance	886045083	RCV000284133;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347967	11347967	1:g.11347967C>T	ClinGen:CA10607597	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1810del	29914	UBIAD1	Uncertain significance	781564164	RCV000339229;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347986	11347986	1:g.11347986_11347986del	ClinGen:CA10607347	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1811G>C	29914	UBIAD1	Uncertain significance	867059451	RCV001102441;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11347999	11347999	1:g.11347999G>C	-
NM_013319.3(UBIAD1):c.1817_1820del	29914	UBIAD1	Benign	371474267	RCV000395834;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348002	11348005	NC_000001.10:g.11348005_11348008del	ClinGen:CA10607348	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1876G>A	29914	UBIAD1	Uncertain significance	959093111	RCV001102442;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348064	11348064	1:g.11348064G>A	-
NM_013319.3(UBIAD1):c.*2091G>A	29914	UBIAD1	Uncertain significance	1235983002	RCV001102443;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348279	11348279	1:g.11348279G>A	-
NM_013319.3(UBIAD1):c.*2115C>G	29914	UBIAD1	Uncertain significance	886045085	RCV000304147;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348303	11348303	NC_000001.10:g.11348303C>G	ClinGen:CA10607415	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*2187G>A	29914	UBIAD1	Uncertain significance	886045086	RCV000344818;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348375	11348375	NC_000001.10:g.11348375G>A	ClinGen:CA10607350	C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*2201C>A	29914	UBIAD1	Uncertain significance	897434247	RCV001097034;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348389	11348389	1:g.11348389C>A	-
NM_013319.3(UBIAD1):c.*2213C>T	29914	UBIAD1	Uncertain significance	760259916	RCV001097035;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348401	11348401	1:g.11348401C>T	-
NM_001330349.2(UBIAD1):c.618+2704C>T	29914	UBIAD1	Likely benign	573522173	RCV000376638;	N	Human Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:98967	1	11348493	11348493	1:g.11348493C>T	ClinGen:CA10654422	C0271287 121800 Schnyder crystalline corneal dystrophy;

MSeqDR Portal

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