GPHN (gephyrin) - Rat Genome Database

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Gene: GPHN (gephyrin) Homo sapiens
Analyze
Symbol: GPHN
Name: gephyrin
RGD ID: 69477
HGNC Page HGNC:15465
Description: Enables several functions, including identical protein binding activity; molybdopterin cofactor binding activity; and nitrate reductase activity. Involved in gamma-aminobutyric acid receptor clustering; molybdopterin cofactor biosynthetic process; and response to metal ion. Located in dendrite and synaptic membrane. Is active in dendritic spine and postsynaptic membrane. Implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GEPH; GPH; GPHRYN; HKPX1; KIAA1385; MOCODC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381466,508,147 - 67,735,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1466,507,407 - 67,181,803 (+)EnsemblGRCh38hg38GRCh38
GRCh371466,974,865 - 67,648,520 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361466,043,878 - 66,718,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 341466,044,988 - 66,718,268NCBI
Celera1447,033,183 - 47,707,584 (+)NCBICelera
Cytogenetic Map14q23.3-q24.1NCBI
HuRef1447,144,073 - 47,817,837 (+)NCBIHuRef
CHM1_11466,912,247 - 67,587,111 (+)NCBICHM1_1
T2T-CHM13v2.01460,715,132 - 61,942,473 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chloroacetaldehyde  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
coumarin  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
flutamide  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
glafenine  (ISO)
Heliotrine  (EXP)
irinotecan  (ISO)
ivermectin  (EXP)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methoxychlor  (ISO)
N-methyl-D-aspartic acid  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pyrethrins  (ISO)
SB 431542  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
sevoflurane  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of movement  (IAGP)
Abnormality of the eye  (IAGP)
Apnea  (IAGP)
Aspiration  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral palsy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Esophagitis  (IAGP)
Exaggerated startle response  (IAGP)
Fasciculations  (IAGP)
Feeding difficulties  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Hernia  (IAGP)
Hiatus hernia  (IAGP)
Hip dislocation  (IAGP)
Hyperreflexia  (IAGP)
Hypertaurinemia  (IAGP)
Hypertonia  (IAGP)
Hypocystinemia  (IAGP)
Hypokinesia  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypouricemia  (IAGP)
Increased urinary taurine  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Joint dislocation  (IAGP)
Joint stiffness  (IAGP)
Limb hypertonia  (IAGP)
Macular dystrophy  (IAGP)
Molybdenum cofactor deficiency  (IAGP)
Muscle stiffness  (IAGP)
Myoclonus  (IAGP)
Neonatal death  (IAGP)
Neonatal onset  (IAGP)
Nocturnal seizures  (IAGP)
Polymicrogyria  (IAGP)
Poor head control  (IAGP)
Prostate cancer  (IAGP)
Reduced eye contact  (IAGP)
Retinal dystrophy  (IAGP)
Rigidity  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Sleep abnormality  (IAGP)
Spasticity  (IAGP)
Sulfite oxidase deficiency  (IAGP)
Umbilical hernia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Cell biology of molybdenum. Mendel RR and Bittner F, Biochim Biophys Acta. 2006 Jul;1763(7):621-35. Epub 2006 May 12.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. Prior P, etal., Neuron 1992 Jun;8(6):1161-70.
6. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Reiss J and Johnson JL, Hum Mutat 2003 Jun;21(6):569-76.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Biochemical characterization of the high affinity binding between the glycine receptor and gephyrin. Schrader N, etal., J Biol Chem 2004 Apr 30;279(18):18733-41. Epub 2004 Feb 19.
Additional References at PubMed
PMID:1657993   PMID:7546736   PMID:9473484   PMID:9990024   PMID:10037506   PMID:10325225   PMID:10607391   PMID:10718198   PMID:10839351   PMID:10900017   PMID:10947798   PMID:11095995  
PMID:11418245   PMID:11554796   PMID:11727829   PMID:12097491   PMID:12477932   PMID:12535948   PMID:12684523   PMID:12967995   PMID:14622920   PMID:14751928   PMID:15489334   PMID:16376568  
PMID:16964243   PMID:17293395   PMID:17347650   PMID:18315564   PMID:18334916   PMID:18403029   PMID:19615732   PMID:19874574   PMID:19913121   PMID:20206270   PMID:20301437   PMID:20360068  
PMID:20379614   PMID:20468064   PMID:20622020   PMID:20628086   PMID:21071388   PMID:21094642   PMID:21404332   PMID:21726808   PMID:21829170   PMID:21873635   PMID:21988832   PMID:22270318  
PMID:22778260   PMID:22863883   PMID:23077067   PMID:23184456   PMID:23290196   PMID:23393157   PMID:23408424   PMID:24128675   PMID:24297911   PMID:24561070   PMID:24643514   PMID:25025157  
PMID:25531214   PMID:25609649   PMID:25755278   PMID:25813846   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26511642   PMID:26613940   PMID:26972000   PMID:27002143   PMID:27173435  
PMID:28073605   PMID:28514442   PMID:28581483   PMID:28675297   PMID:28883437   PMID:29507755   PMID:29549242   PMID:29778605   PMID:29791485   PMID:30890647   PMID:31006538   PMID:31091453  
PMID:32203420   PMID:32239614   PMID:32296183   PMID:32572027   PMID:32807901   PMID:33060197   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34870926  
PMID:35256949   PMID:35271311   PMID:35509820   PMID:35563538   PMID:35717442   PMID:35944360   PMID:35987950   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36931259   PMID:37071682  
PMID:38113892   PMID:38280479   PMID:38943005   PMID:39147351  


Genomics

Comparative Map Data
GPHN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381466,508,147 - 67,735,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1466,507,407 - 67,181,803 (+)EnsemblGRCh38hg38GRCh38
GRCh371466,974,865 - 67,648,520 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361466,043,878 - 66,718,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 341466,044,988 - 66,718,268NCBI
Celera1447,033,183 - 47,707,584 (+)NCBICelera
Cytogenetic Map14q23.3-q24.1NCBI
HuRef1447,144,073 - 47,817,837 (+)NCBIHuRef
CHM1_11466,912,247 - 67,587,111 (+)NCBICHM1_1
T2T-CHM13v2.01460,715,132 - 61,942,473 (+)NCBIT2T-CHM13v2.0
Gphn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391278,264,099 - 78,731,546 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1278,273,153 - 78,731,546 (+)EnsemblGRCm39 Ensembl
GRCm381278,217,325 - 78,684,772 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1278,226,379 - 78,684,772 (+)EnsemblGRCm38mm10GRCm38
MGSCv371279,327,642 - 79,785,759 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361279,145,574 - 79,603,578 (+)NCBIMGSCv36mm8
Celera1279,690,472 - 80,148,022 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1235.51NCBI
Gphn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86102,687,405 - 103,216,679 (+)NCBIGRCr8
mRatBN7.2696,954,365 - 97,483,617 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl696,892,148 - 97,483,612 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx697,388,022 - 97,920,426 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0697,687,169 - 98,219,588 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0697,077,693 - 97,599,233 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06101,327,874 - 101,859,169 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6101,532,518 - 101,859,164 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06110,709,516 - 111,190,440 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.06111,210,069 - 111,237,661 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46100,833,004 - 101,302,957 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16100,836,459 - 101,306,408 (+)NCBI
Celera695,358,601 - 95,872,910 (+)NCBICelera
Cytogenetic Map6q24NCBI
Gphn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554663,016,479 - 3,526,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554663,017,474 - 3,526,375 (-)NCBIChiLan1.0ChiLan1.0
GPHN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21567,610,429 - 68,285,563 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11466,828,972 - 67,502,075 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01447,081,527 - 47,755,182 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11465,963,473 - 66,634,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1466,137,166 - 66,634,550 (+)Ensemblpanpan1.1panPan2
GPHN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1840,585,625 - 41,204,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl840,585,883 - 41,203,245 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha840,270,522 - 40,895,744 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0840,807,578 - 41,430,716 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl840,807,424 - 41,430,706 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1840,427,159 - 41,049,600 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0840,497,926 - 41,123,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0840,856,432 - 41,482,422 (+)NCBIUU_Cfam_GSD_1.0
Gphn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864063,626,233 - 64,220,771 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364959,972,007 - 10,564,591 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364959,970,683 - 10,565,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPHN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl790,346,714 - 90,916,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1790,345,726 - 90,913,625 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2796,902,547 - 97,222,781 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GPHN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12443,702,384 - 44,421,890 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2443,880,344 - 44,422,276 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605331,896,980 - 32,651,860 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gphn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473433,870,997 - 34,483,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473433,871,664 - 34,483,770 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPHN
1794 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020806.5(GPHN):c.1414-4A>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000546129] Chr14:67111857 [GRCh38]
Chr14:67578574 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.4(GPHN):c.65-?_201+?del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000006336] Chr14:66681106..66776522 [GRCh38]
Chr14:67147824..67243240 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.963+10G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000542586]|not provided [RCV001556992] Chr14:66965335 [GRCh38]
Chr14:67432052 [GRCh37]
Chr14:14q23.3		 benign|likely benign
NM_020806.5(GPHN):c.271G>A (p.Ala91Thr) single nucleotide variant Inborn genetic diseases [RCV002526142]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000548955] Chr14:66824543 [GRCh38]
Chr14:67291261 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.1734T>C (p.Gly578=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000529729]|not provided [RCV004715283] Chr14:67122363 [GRCh38]
Chr14:67589080 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.716C>G (p.Ala239Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000549866] Chr14:66922925 [GRCh38]
Chr14:67389642 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.327A>G (p.Pro109=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000524675] Chr14:66879971 [GRCh38]
Chr14:67346689 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) single nucleotide variant Hyperekplexia 1 [RCV000031964]|Hyperekplexia 1 [RCV002496282]|Hyperekplexia [RCV000006337]|Inborn genetic diseases [RCV002512829]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000697829]|not provided [RCV003480022] Chr14:66508555 [GRCh38]
Chr14:66975273 [GRCh37]
Chr14:14q23.3		 pathogenic|uncertain significance
NM_020806.4(GPHN):c.64+21836G>T single nucleotide variant Lung cancer [RCV000099006] Chr14:66530427 [GRCh38]
Chr14:66997145 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.4(GPHN):c.294+961G>C single nucleotide variant Lung cancer [RCV000099007] Chr14:66825527 [GRCh38]
Chr14:67292245 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.4(GPHN):c.1145-6511A>G single nucleotide variant Lung cancer [RCV000099008] Chr14:67082472 [GRCh38]
Chr14:67549189 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000074361] Chr14:67159416 [GRCh38]
Chr14:67626133 [GRCh37]
Chr14:14q23.3		 pathogenic
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3		 pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3		 pathogenic
GRCh38/hg38 14q23.3(chr14:65850118-66612331)x3 copy number gain See cases [RCV000052062] Chr14:65850118..66612331 [GRCh38]
Chr14:66316836..67079049 [GRCh37]
Chr14:65386589..66148802 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:65850318-66612190)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052081]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052081]|See cases [RCV000052081] Chr14:65850318..66612190 [GRCh38]
Chr14:66317036..67078908 [GRCh37]
Chr14:65386789..66148661 [NCBI36]
Chr14:14q23.3		 uncertain significance
NM_020806.4(GPHN):c.1898T>A (p.Phe633Tyr) single nucleotide variant Malignant melanoma [RCV000070579] Chr14:67159476 [GRCh38]
Chr14:67626193 [GRCh37]
Chr14:66695946 [NCBI36]
Chr14:14q23.3		 not provided
NM_152443.3(RDH12):c.201T>C (p.Tyr67=) single nucleotide variant Leber congenital amaurosis 13 [RCV002065880] Chr14:67725112 [GRCh38]
Chr14:68191829 [GRCh37]
Chr14:14q24.1		 likely benign
NM_020806.5(GPHN):c.1819G>A (p.Val607Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001302744] Chr14:67143432 [GRCh38]
Chr14:67610149 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.3(chr14:66750744-66884969)x1 copy number loss See cases [RCV000136933] Chr14:66750744..66884969 [GRCh38]
Chr14:67217462..67351687 [GRCh37]
Chr14:66287215..66421440 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:65753357-66523450)x3 copy number gain See cases [RCV000137478] Chr14:65753357..66523450 [GRCh38]
Chr14:66220075..66990168 [GRCh37]
Chr14:65289828..66059921 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:66612131-66884969)x1 copy number loss See cases [RCV000138890] Chr14:66612131..66884969 [GRCh38]
Chr14:67078849..67351687 [GRCh37]
Chr14:66148602..66421440 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:66680039-66884969)x1 copy number loss See cases [RCV000138607] Chr14:66680039..66884969 [GRCh38]
Chr14:67146757..67351687 [GRCh37]
Chr14:66216510..66421440 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:66803404-66977069)x1 copy number loss See cases [RCV000141650] Chr14:66803404..66977069 [GRCh38]
Chr14:67270122..67443786 [GRCh37]
Chr14:66339875..66513539 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q23.3(chr14:66345579-66848052)x1 copy number loss See cases [RCV000141800] Chr14:66345579..66848052 [GRCh38]
Chr14:66812297..67314770 [GRCh37]
Chr14:65882050..66384523 [NCBI36]
Chr14:14q23.3		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.3(chr14:66644735-66997452)x1 copy number loss See cases [RCV000143236] Chr14:66644735..66997452 [GRCh38]
Chr14:67111453..67464169 [GRCh37]
Chr14:66181206..66533922 [NCBI36]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) single nucleotide variant Hyperekplexia 1 [RCV002497132]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000546759]|not provided [RCV001577324] Chr14:67143410 [GRCh38]
Chr14:67610127 [GRCh37]
Chr14:14q23.3		 benign|likely benign
NM_152443.3(RDH12):c.81T>G (p.Ala27=) single nucleotide variant Leber congenital amaurosis 13 [RCV001500883] Chr14:67724485 [GRCh38]
Chr14:68191202 [GRCh37]
Chr14:14q24.1		 likely benign
NM_020806.5(GPHN):c.1471A>T (p.Arg491Ter) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374503] Chr14:67111918 [GRCh38]
Chr14:67578635 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) single nucleotide variant GPHN-related disorder [RCV003915563]|Hyperekplexia 1 [RCV002491021]|Inborn genetic diseases [RCV002528404]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000615079]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001084970]|not provided [RCV000525871] Chr14:66924264 [GRCh38]
Chr14:67390981 [GRCh37]
Chr14:14q23.3		 benign|likely benign
NM_020806.5(GPHN):c.909G>A (p.Ser303=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001493904] Chr14:66965271 [GRCh38]
Chr14:67431988 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2080-4G>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001486158] Chr14:67179574 [GRCh38]
Chr14:67646291 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1173T>C (p.Asp391=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000552821] Chr14:67089011 [GRCh38]
Chr14:67555728 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.202-6T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001515625]|not provided [RCV001530595]|not specified [RCV000247914] Chr14:66824468 [GRCh38]
Chr14:67291186 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.65-9T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001518178]|not provided [RCV001689903]|not specified [RCV000252877] Chr14:66681098 [GRCh38]
Chr14:67147816 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67347852-67417278)x1 copy number loss See cases [RCV000240411] Chr14:67347852..67417278 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1586A>G (p.Asn529Ser) single nucleotide variant not provided [RCV000489111] Chr14:67113131 [GRCh38]
Chr14:67579848 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_001395907.1(GARIN2):c.899A>G (p.Lys300Arg) single nucleotide variant not specified [RCV004299473] Chr14:67205076 [GRCh38]
Chr14:67671793 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_016026.4(RDH11):c.749G>A (p.Trp250Ter) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV003159286] Chr14:67685120 [GRCh38]
Chr14:68151837 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_152443.3(RDH12):c.269C>T (p.Ser90Phe) single nucleotide variant Leber congenital amaurosis 13 [RCV002030777] Chr14:67725180 [GRCh38]
Chr14:68191897 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.9:g.(?_66776464)_(66776521_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000585883] Chr14:66776464..66776521 [GRCh38]
Chr14:67243182..67243239 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_152443.3(RDH12):c.72G>C (p.Lys24Asn) single nucleotide variant not provided [RCV003312285] Chr14:67724476 [GRCh38]
Chr14:68191193 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.9:g.(?_66824474)_(66824566_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000585848] Chr14:66824474..66824566 [GRCh38]
Chr14:67291192..67291284 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NC_000014.8:g.(?_67243157)_(67647704_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000585815] Chr14:67243157..67647704 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.381G>A (p.Met127Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642143] Chr14:66880025 [GRCh38]
Chr14:67346743 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1911-6T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642146] Chr14:67165156 [GRCh38]
Chr14:67631873 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2176+9T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000560081] Chr14:67179683 [GRCh38]
Chr14:67646400 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1558A>T (p.Thr520Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000558518] Chr14:67113103 [GRCh38]
Chr14:67579820 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser) single nucleotide variant GPHN-related disorder [RCV003925653]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000610229]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001082363]|not provided [RCV000536404] Chr14:66508553 [GRCh38]
Chr14:66975271 [GRCh37]
Chr14:14q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 14q23.3(chr14:66725803-67125967)x1 copy number loss See cases [RCV000446870] Chr14:66725803..67125967 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67248476-67362863)x1 copy number loss See cases [RCV000446993] Chr14:67248476..67362863 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001081067]|not provided [RCV000440362]|not specified [RCV003114535] Chr14:66681169 [GRCh38]
Chr14:67147887 [GRCh37]
Chr14:14q23.3		 benign|likely benign
GRCh37/hg19 14q23.3(chr14:67276324-67543232)x1 copy number loss See cases [RCV000445707] Chr14:67276324..67543232 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q23.3(chr14:67418622-67701515)x3 copy number gain See cases [RCV000512089] Chr14:67418622..67701515 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003766715]|not provided [RCV000484321] Chr14:66965270 [GRCh38]
Chr14:67431987 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000477777] Chr14:67143444 [GRCh38]
Chr14:67610161 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.2(RDH12):c.57_60delTCCA (p.Ile22Glyfs) deletion Leber congenital amaurosis 13 [RCV000477951] Chr14:67722699..67722702 [GRCh38]
Chr14:68189416..68189419 [GRCh37]
Chr14:14q24.1		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.3(chr14:67010936-67763909)x1 copy number loss See cases [RCV000511079] Chr14:67010936..67763909 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_022474.4(PALS1):c.1547G>A (p.Arg516Gln) single nucleotide variant not specified [RCV004297965] Chr14:67321066 [GRCh38]
Chr14:67787783 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_004569.5(PIGH):c.236A>G (p.Tyr79Cys) single nucleotide variant Inborn genetic diseases [RCV003281837] Chr14:67593897 [GRCh38]
Chr14:68060614 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.165A>G (p.Ala55=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642145] Chr14:66776485 [GRCh38]
Chr14:67243203 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1095A>G (p.Thr365=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001422447] Chr14:67058737 [GRCh38]
Chr14:67525454 [GRCh37]
Chr14:14q23.3		 likely benign
NM_001172.4(ARG2):c.508G>C (p.Glu170Gln) single nucleotide variant not specified [RCV004299713] Chr14:67645788 [GRCh38]
Chr14:68112505 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1004C>A (p.Ala335Asp) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642142] Chr14:67023673 [GRCh38]
Chr14:67490390 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.817A>G (p.Thr273Ala) single nucleotide variant Inborn genetic diseases [RCV003286930] Chr14:66924281 [GRCh38]
Chr14:67390998 [GRCh37]
Chr14:14q23.3		 likely benign
NM_001395907.1(GARIN2):c.239C>G (p.Thr80Ser) single nucleotide variant not specified [RCV004313393] Chr14:67203173 [GRCh38]
Chr14:67669890 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_016445.3(PLEK2):c.889C>T (p.Arg297Cys) single nucleotide variant not specified [RCV004320559] Chr14:67388269 [GRCh38]
Chr14:67854986 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1238C>T (p.Ala413Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642139] Chr14:67100856 [GRCh38]
Chr14:67567573 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1020C>T (p.Val340=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001475065] Chr14:67058662 [GRCh38]
Chr14:67525379 [GRCh37]
Chr14:14q23.3		 likely benign
NM_001172.4(ARG2):c.974A>G (p.Gln325Arg) single nucleotide variant not specified [RCV004329835] Chr14:67650829 [GRCh38]
Chr14:68117546 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr) single nucleotide variant GPHN-related disorder [RCV003918034]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642140] Chr14:67180819 [GRCh38]
Chr14:67647536 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NC_000014.8:g.(?_67243162)_(67391029_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642150] Chr14:67243162..67391029 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1946G>T (p.Gly649Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000559449] Chr14:67165197 [GRCh38]
Chr14:67631914 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.633A>G (p.Gln211=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000537103]|not provided [RCV003403294] Chr14:66922842 [GRCh38]
Chr14:67389559 [GRCh37]
Chr14:14q23.3		 likely benign
NM_016445.3(PLEK2):c.206C>T (p.Pro69Leu) single nucleotide variant not specified [RCV004293471] Chr14:67397663 [GRCh38]
Chr14:67864380 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.307G>A (p.Val103Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642138] Chr14:66879951 [GRCh38]
Chr14:67346669 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.144-10C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642144] Chr14:66776454 [GRCh38]
Chr14:67243172 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2124G>A (p.Arg708=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642148] Chr14:67179622 [GRCh38]
Chr14:67646339 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1971A>C (p.Leu657=) single nucleotide variant GPHN-related disorder [RCV003962522]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000535482]|not provided [RCV003403293] Chr14:67165222 [GRCh38]
Chr14:67631939 [GRCh37]
Chr14:14q23.3		 likely benign
NM_001172.4(ARG2):c.956T>C (p.Ile319Thr) single nucleotide variant not specified [RCV004319807] Chr14:67650811 [GRCh38]
Chr14:68117528 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016445.3(PLEK2):c.556A>C (p.Met186Leu) single nucleotide variant not specified [RCV004307014] Chr14:67392775 [GRCh38]
Chr14:67859492 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_004569.5(PIGH):c.187A>G (p.Met63Val) single nucleotide variant Inborn genetic diseases [RCV003266832] Chr14:67593946 [GRCh38]
Chr14:68060663 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser) single nucleotide variant Inborn genetic diseases [RCV003338709]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642141] Chr14:66681128 [GRCh38]
Chr14:67147846 [GRCh37]
Chr14:14q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000014.8:g.(?_67346637)_(67391029_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642151] Chr14:67346637..67391029 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67059269-67547924)x3 copy number gain See cases [RCV000512165] Chr14:67059269..67547924 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67274666-67387605)x1 copy number loss not provided [RCV000683584] Chr14:67274666..67387605 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:66956069-66991658)x1 copy number loss not provided [RCV000683575] Chr14:66956069..66991658 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:66633216-67032077)x1 copy number loss not provided [RCV000683605] Chr14:66633216..67032077 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000688046] Chr14:67180853 [GRCh38]
Chr14:67647570 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp) single nucleotide variant Hyperekplexia 1 [RCV002499259]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000701613] Chr14:66924290 [GRCh38]
Chr14:67391007 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.543T>G (p.Asp181Glu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000690696] Chr14:66922752 [GRCh38]
Chr14:67389469 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67610059)_(67610186_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000707839] Chr14:67143342..67143469 [GRCh38]
Chr14:67610059..67610186 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NC_000014.8:g.(?_67243182)_(67432042_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000708329] Chr14:67243182..67432042 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) single nucleotide variant Hyperekplexia 1 [RCV002507188]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000686556]|not provided [RCV004721550] Chr14:66681169 [GRCh38]
Chr14:67147887 [GRCh37]
Chr14:14q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_020806.5(GPHN):c.592A>C (p.Thr198Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000707416] Chr14:66922801 [GRCh38]
Chr14:67389518 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.144G>T (p.Leu48Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000695575] Chr14:66776464 [GRCh38]
Chr14:67243182 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1243G>T (p.Asp415Tyr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000695899] Chr14:67100861 [GRCh38]
Chr14:67567578 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1678C>T (p.Arg560Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000697127] Chr14:67122307 [GRCh38]
Chr14:67589024 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.3(chr14:66983034-67042872)x1 copy number loss not provided [RCV000738517] Chr14:66983034..67042872 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67037349-67133334)x1 copy number loss not provided [RCV000738518] Chr14:67037349..67133334 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67045372-67122249)x1 copy number loss not provided [RCV000738519] Chr14:67045372..67122249 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67197950-67276310)x1 copy number loss not provided [RCV000738520] Chr14:67197950..67276310 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67206319-67239192)x1 copy number loss not provided [RCV000738521] Chr14:67206319..67239192 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:67232679-67428666)x3 copy number gain not provided [RCV000738522] Chr14:67232679..67428666 [GRCh37]
Chr14:14q23.3		 benign
NC_000014.9:g.66507125C>T single nucleotide variant not provided [RCV001678711] Chr14:66507125 [GRCh38]
Chr14:66973843 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.651A>G (p.Glu217=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000977572] Chr14:66922860 [GRCh38]
Chr14:67389577 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2177-51C>A single nucleotide variant not provided [RCV001534545] Chr14:67180753 [GRCh38]
Chr14:67647470 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1237+86A>G single nucleotide variant not provided [RCV001667890] Chr14:67089161 [GRCh38]
Chr14:67555878 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1944T>C (p.Asp648=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000895316] Chr14:67165195 [GRCh38]
Chr14:67631912 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.730-1G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001855708]|not provided [RCV000761885] Chr14:66924193 [GRCh38]
Chr14:67390910 [GRCh37]
Chr14:14q23.3		 likely pathogenic|uncertain significance
NM_020715.3(PLEKHH1):c.2485A>G (p.Met829Val) single nucleotide variant not specified [RCV004317825] Chr14:67577325 [GRCh38]
Chr14:68044042 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020715.3(PLEKHH1):c.739G>A (p.Gly247Arg) single nucleotide variant not specified [RCV004320377] Chr14:67562370 [GRCh38]
Chr14:68029087 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.9:g.66507394C>T single nucleotide variant not provided [RCV001663290] Chr14:66507394 [GRCh38]
Chr14:66974112 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.143+123C>T single nucleotide variant not provided [RCV001578060] Chr14:66681308 [GRCh38]
Chr14:67148026 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001067128] Chr14:66965293 [GRCh38]
Chr14:67432010 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.65-98_65-97del deletion not provided [RCV001690622] Chr14:66681000..66681001 [GRCh38]
Chr14:67147718..67147719 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1144+243del deletion not provided [RCV001693222] Chr14:67059015 [GRCh38]
Chr14:67525732 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.2244G>A (p.Lys748=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002540987] Chr14:67180871 [GRCh38]
Chr14:67647588 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.339G>C (p.Leu113=) single nucleotide variant not provided [RCV000976016] Chr14:66879983 [GRCh38]
Chr14:67346701 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1191T>C (p.Asn397=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000981358] Chr14:67089029 [GRCh38]
Chr14:67555746 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1857G>C (p.Leu619=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002065498] Chr14:67159435 [GRCh38]
Chr14:67626152 [GRCh37]
Chr14:14q23.3		 likely benign
NC_000014.9:g.(?_66508508)_(66508611_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001032517] Chr14:66975226..66975329 [GRCh37]
Chr14:14q23.3		 pathogenic
NC_000014.9:g.(?_66965171)_(67100931_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001032462] Chr14:67431888..67567648 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001057393] Chr14:66824550 [GRCh38]
Chr14:67291268 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.390-3C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000799919] Chr14:66916000 [GRCh38]
Chr14:67382717 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1911-7C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000945767] Chr14:67165155 [GRCh38]
Chr14:67631872 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.64+8G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000951634] Chr14:66508599 [GRCh38]
Chr14:66975317 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1563A>G (p.Val521=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002066095] Chr14:67113108 [GRCh38]
Chr14:67579825 [GRCh37]
Chr14:14q23.3		 likely benign
NM_004569.5(PIGH):c.374A>G (p.Asn125Ser) single nucleotide variant Inborn genetic diseases [RCV003270343] Chr14:67593759 [GRCh38]
Chr14:68060476 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1144+9A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001454178] Chr14:67058795 [GRCh38]
Chr14:67525512 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1686T>C (p.Thr562=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001463169] Chr14:67122315 [GRCh38]
Chr14:67589032 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1911-3T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000809570] Chr14:67165159 [GRCh38]
Chr14:67631876 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.9:g.(?_66879919)_(66880053_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000811351] Chr14:66879919..66880053 [GRCh38]
Chr14:67346637..67346771 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1333A>C (p.Thr445Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000812281] Chr14:67110179 [GRCh38]
Chr14:67576896 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1033G>A (p.Val345Met) single nucleotide variant Inborn genetic diseases [RCV002535949]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000822388] Chr14:67058675 [GRCh38]
Chr14:67525392 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000824391] Chr14:67143379 [GRCh38]
Chr14:67610096 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000808752] Chr14:67122295 [GRCh38]
Chr14:67589012 [GRCh37]
Chr14:14q23.3		 pathogenic
NC_000014.9:g.(?_66915983)_(66916089_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001031772] Chr14:67382700..67382806 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NC_000014.9:g.(?_66776444)_(66776541_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001032470] Chr14:67243162..67243259 [GRCh37]
Chr14:14q23.3		 pathogenic
GRCh37/hg19 14q23.3(chr14:67025359-67249621)x1 copy number loss not provided [RCV000847845] Chr14:67025359..67249621 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1989G>A (p.Ser663=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001065957]|not provided [RCV004693563] Chr14:67168946 [GRCh38]
Chr14:67635663 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
GRCh37/hg19 14q23.3(chr14:67242037-67363144)x1 copy number loss not provided [RCV001006644] Chr14:67242037..67363144 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67135019-67197722)x1 copy number loss not provided [RCV000846732] Chr14:67135019..67197722 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.777A>G (p.Glu259=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001208557] Chr14:66924241 [GRCh38]
Chr14:67390958 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.68G>C (p.Ser23Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001223914] Chr14:66681110 [GRCh38]
Chr14:67147828 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1473-5T>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001205047] Chr14:67113013 [GRCh38]
Chr14:67579730 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1738G>A (p.Val580Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001205073] Chr14:67122367 [GRCh38]
Chr14:67589084 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.201+3A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001234718] Chr14:66776524 [GRCh38]
Chr14:67243242 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1769C>T (p.Ala590Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001238253] Chr14:67143382 [GRCh38]
Chr14:67610099 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.389+6A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001218419] Chr14:66880039 [GRCh38]
Chr14:67346757 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1945G>A (p.Gly649Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001239911] Chr14:67165196 [GRCh38]
Chr14:67631913 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.3(RDH12):c.382G>A (p.Val128Ile) single nucleotide variant Inborn genetic diseases [RCV003272423] Chr14:67726089 [GRCh38]
Chr14:68192806 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016445.3(PLEK2):c.799C>T (p.Arg267Cys) single nucleotide variant not specified [RCV004296097] Chr14:67390719 [GRCh38]
Chr14:67857436 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.3(RDH12):c.454T>A (p.Phe152Ile) single nucleotide variant not specified [RCV004699763] Chr14:67726986 [GRCh38]
Chr14:68193703 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.829-134A>G single nucleotide variant not provided [RCV001564354] Chr14:66965057 [GRCh38]
Chr14:67431774 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.685C>T (p.His229Tyr) single nucleotide variant not specified [RCV004700102] Chr14:67729217 [GRCh38]
Chr14:68195934 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1749-152G>T single nucleotide variant not provided [RCV001588790] Chr14:67143210 [GRCh38]
Chr14:67609927 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1975+247_1975+268del microsatellite not provided [RCV001638650] Chr14:67165449..67165470 [GRCh38]
Chr14:67632166..67632187 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1626+191A>G single nucleotide variant not provided [RCV001665383] Chr14:67113362 [GRCh38]
Chr14:67580079 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1144+187A>G single nucleotide variant not provided [RCV001586245] Chr14:67058973 [GRCh38]
Chr14:67525690 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1748+333G>A single nucleotide variant not provided [RCV001541283] Chr14:67122710 [GRCh38]
Chr14:67589427 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.143+221C>G single nucleotide variant not provided [RCV001683901] Chr14:66681406 [GRCh38]
Chr14:67148124 [GRCh37]
Chr14:14q23.3		 benign
NM_020715.3(PLEKHH1):c.827G>A (p.Arg276Lys) single nucleotide variant not specified [RCV004300982] Chr14:67562458 [GRCh38]
Chr14:68029175 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1414-10G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000983556] Chr14:67111851 [GRCh38]
Chr14:67578568 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2034A>G (p.Lys678=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001395776] Chr14:67168991 [GRCh38]
Chr14:67635708 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.369A>G (p.Thr123=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000886049] Chr14:66880013 [GRCh38]
Chr14:67346731 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1164T>C (p.Leu388=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002065758] Chr14:67089002 [GRCh38]
Chr14:67555719 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2307A>G (p.Leu769=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001443998] Chr14:67180934 [GRCh38]
Chr14:67647651 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1722G>A (p.Thr574=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001462678] Chr14:67122351 [GRCh38]
Chr14:67589068 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001231499] Chr14:67180836 [GRCh38]
Chr14:67647553 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001034808] Chr14:67122373 [GRCh38]
Chr14:67589090 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.9:g.(?_66508508)_(66681205_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001033869] Chr14:66975226..67147923 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.357A>G (p.Ser119=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001422066] Chr14:66880001 [GRCh38]
Chr14:67346719 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.456+252C>G single nucleotide variant not provided [RCV001594600] Chr14:66916321 [GRCh38]
Chr14:67383038 [GRCh37]
Chr14:14q23.3		 benign
NM_016026.4(RDH11):c.74+16T>A single nucleotide variant not provided [RCV002681149] Chr14:67695614 [GRCh38]
Chr14:68162331 [GRCh37]
Chr14:14q24.1		 likely benign
NM_020806.5(GPHN):c.2079+82C>T single nucleotide variant not provided [RCV001558535] Chr14:67169118 [GRCh38]
Chr14:67635835 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1237+218T>C single nucleotide variant not provided [RCV001689060] Chr14:67089293 [GRCh38]
Chr14:67556010 [GRCh37]
Chr14:14q23.3		 benign
GRCh37/hg19 14q23.3(chr14:66292120-67111443)x3 copy number gain not provided [RCV002473488] Chr14:66292120..67111443 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:66903247-67363144)x1 copy number loss not provided [RCV002473875] Chr14:66903247..67363144 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1293+2T>G single nucleotide variant Seizure [RCV001263315] Chr14:67100913 [GRCh38]
Chr14:67567630 [GRCh37]
Chr14:14q23.3		 likely pathogenic
GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3 copy number gain not provided [RCV001006646] Chr14:67331167..68451970 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_020806.5(GPHN):c.1144+193T>C single nucleotide variant not provided [RCV001659044] Chr14:67058979 [GRCh38]
Chr14:67525696 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1472+219T>A single nucleotide variant not provided [RCV001659405] Chr14:67112138 [GRCh38]
Chr14:67578855 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1293+290dup duplication not provided [RCV001616139] Chr14:67101191..67101192 [GRCh38]
Chr14:67567908..67567909 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.2079+56A>G single nucleotide variant not provided [RCV001696304] Chr14:67169092 [GRCh38]
Chr14:67635809 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.829-212A>G single nucleotide variant not provided [RCV001678181] Chr14:66964979 [GRCh38]
Chr14:67431696 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1473-269T>G single nucleotide variant not provided [RCV001688473] Chr14:67112749 [GRCh38]
Chr14:67579466 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.2080-38G>T single nucleotide variant not provided [RCV001617638] Chr14:67179540 [GRCh38]
Chr14:67646257 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1911-232dup duplication not provided [RCV001594182] Chr14:67164917..67164918 [GRCh38]
Chr14:67631634..67631635 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.202-38A>G single nucleotide variant not provided [RCV001674279] Chr14:66824436 [GRCh38]
Chr14:67291154 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.715G>A (p.Ala239Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001228366] Chr14:66922924 [GRCh38]
Chr14:67389641 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.670G>A (p.Val224Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001067690] Chr14:66922879 [GRCh38]
Chr14:67389596 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.9:g.(?_65957717)_(66508591_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001033489] Chr14:66424435..66975309 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67346657-67488531)x1 copy number loss not provided [RCV001092396] Chr14:67346657..67488531 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1238-3C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001068970] Chr14:67100853 [GRCh38]
Chr14:67567570 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.143+90T>C single nucleotide variant not provided [RCV001671983] Chr14:66681275 [GRCh38]
Chr14:67147993 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1836+29A>G single nucleotide variant not provided [RCV001589580] Chr14:67143478 [GRCh38]
Chr14:67610195 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.964-300T>C single nucleotide variant not provided [RCV001670431] Chr14:67023333 [GRCh38]
Chr14:67490050 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.143+232A>T single nucleotide variant not provided [RCV001708295] Chr14:66681417 [GRCh38]
Chr14:67148135 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001048059] Chr14:66776492 [GRCh38]
Chr14:67243210 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.9:g.(?_67122236)_(67122397_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001033862] Chr14:67588953..67589114 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1237+250G>A single nucleotide variant not provided [RCV001583596] Chr14:67089325 [GRCh38]
Chr14:67556042 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1911-206A>G single nucleotide variant not provided [RCV001672034] Chr14:67164956 [GRCh38]
Chr14:67631673 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1709A>G (p.His570Arg) single nucleotide variant not provided [RCV001531197] Chr14:67122338 [GRCh38]
Chr14:67589055 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1837-220C>T single nucleotide variant not provided [RCV001612852] Chr14:67159195 [GRCh38]
Chr14:67625912 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.64+6C>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001060238] Chr14:66508597 [GRCh38]
Chr14:66975315 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1272G>A (p.Gly424=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001217463] Chr14:67100890 [GRCh38]
Chr14:67567607 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.2079+2T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001057847] Chr14:67169038 [GRCh38]
Chr14:67635755 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001040358] Chr14:67058734 [GRCh38]
Chr14:67525451 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.9:g.(?_67058629)_(67180957_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001033636] Chr14:67525346..67647674 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001052111] Chr14:66965303 [GRCh38]
Chr14:67432020 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.715G>C (p.Ala239Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001219540] Chr14:66922924 [GRCh38]
Chr14:67389641 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001055780] Chr14:66879969 [GRCh38]
Chr14:67346687 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67242121-67285061)x1 copy number loss not provided [RCV001006645] Chr14:67242121..67285061 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001050321] Chr14:66681142 [GRCh38]
Chr14:67147860 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001037729] Chr14:66922894 [GRCh38]
Chr14:67389611 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001203111] Chr14:67058690 [GRCh38]
Chr14:67525407 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.65-1G>C single nucleotide variant Seizure [RCV001078183]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003883166] Chr14:66681106 [GRCh38]
Chr14:67147824 [GRCh37]
Chr14:14q23.3		 likely pathogenic|uncertain significance
GRCh37/hg19 14q23.3(chr14:67605566-67640134)x1 copy number loss not provided [RCV001259784] Chr14:67605566..67640134 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_006370.3(VTI1B):c.221G>A (p.Arg74Gln) single nucleotide variant not specified [RCV004683349] Chr14:67659876 [GRCh38]
Chr14:68126593 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.137G>A (p.Gly46Asp) single nucleotide variant Leber congenital amaurosis 13 [RCV004691625] Chr14:67724541 [GRCh38]
Chr14:68191258 [GRCh37]
Chr14:14q24.1		 likely pathogenic
GRCh37/hg19 14q23.3(chr14:66292119-67104882)x3 copy number gain See cases [RCV002285040] Chr14:66292119..67104882 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:66881928-67493801)x1 copy number loss See cases [RCV001264399] Chr14:66881928..67493801 [GRCh37]
Chr14:14q23.3		 risk factor
NM_020806.5(GPHN):c.2177-139A>G single nucleotide variant not provided [RCV001575708] Chr14:67180665 [GRCh38]
Chr14:67647382 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1170A>T (p.Gln390His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001329794] Chr14:67089008 [GRCh38]
Chr14:67555725 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.175G>A (p.Val59Ile) single nucleotide variant Hyperekplexia 1 [RCV001329795] Chr14:66776495 [GRCh38]
Chr14:67243213 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1930A>G (p.Thr644Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001309439] Chr14:67165181 [GRCh38]
Chr14:67631898 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.148G>A (p.Gly50Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001306923] Chr14:66776468 [GRCh38]
Chr14:67243186 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001305097] Chr14:67179674 [GRCh38]
Chr14:67646391 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.867C>T (p.Leu289=) single nucleotide variant not provided [RCV004598970] Chr14:66965229 [GRCh38]
Chr14:67431946 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_65937790)_(68354021_?)dup duplication Leber congenital amaurosis 13 [RCV001341311]|not provided [RCV001314756] Chr14:65937790..68354021 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 14q23.3(chr14:67157668-67391036)x1 copy number loss See cases [RCV001270259] Chr14:67157668..67391036 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67490330)_(67635773_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001305479] Chr14:67490330..67635773 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1592T>C (p.Phe531Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001314701] Chr14:67113137 [GRCh38]
Chr14:67579854 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.144-147T>C single nucleotide variant not provided [RCV001786821] Chr14:66776317 [GRCh38]
Chr14:67243035 [GRCh37]
Chr14:14q23.3		 likely benign
NC_000014.8:g.(?_66975246)_(66975319_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001314895] Chr14:66975246..66975319 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.262A>C (p.Thr88Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001370225] Chr14:66824534 [GRCh38]
Chr14:67291252 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.212T>A (p.Ile71Lys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001360624] Chr14:66824484 [GRCh38]
Chr14:67291202 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.603C>G (p.Pro201=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001397313] Chr14:66922812 [GRCh38]
Chr14:67389529 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.163G>T (p.Ala55Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001335075] Chr14:66776483 [GRCh38]
Chr14:67243201 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.294+5G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001300293] Chr14:66824571 [GRCh38]
Chr14:67291289 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001345063] Chr14:67165175 [GRCh38]
Chr14:67631892 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.692C>G (p.Ser231Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001295312] Chr14:66922901 [GRCh38]
Chr14:67389618 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.198C>G (p.Ile66Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001338195]|not provided [RCV003442856] Chr14:66776518 [GRCh38]
Chr14:67243236 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln) single nucleotide variant Inborn genetic diseases [RCV002544986]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001304877] Chr14:67110174 [GRCh38]
Chr14:67576891 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1676A>G (p.Asn559Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001370399] Chr14:67122305 [GRCh38]
Chr14:67589022 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001366142] Chr14:67159469 [GRCh38]
Chr14:67626186 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67431888)_(67567648_?)dup duplication Molybdenum cofactor deficiency, complementation group C [RCV001305480] Chr14:67431888..67567648 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1905A>G (p.Lys635=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001412433] Chr14:67159483 [GRCh38]
Chr14:67626200 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.771C>T (p.His257=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001458342] Chr14:66924235 [GRCh38]
Chr14:67390952 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.295-8A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001499404] Chr14:66879931 [GRCh38]
Chr14:67346649 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1620G>A (p.Gly540=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001450857] Chr14:67113165 [GRCh38]
Chr14:67579882 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.484C>T (p.Leu162=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001455296] Chr14:66922693 [GRCh38]
Chr14:67389410 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1156_1159dup (p.Val387fs) duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001380809] Chr14:67088992..67088993 [GRCh38]
Chr14:67555709..67555710 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.516C>T (p.Ala172=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403037] Chr14:66922725 [GRCh38]
Chr14:67389442 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1845C>T (p.Leu615=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001506877] Chr14:67159423 [GRCh38]
Chr14:67626140 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1976-7C>T single nucleotide variant GPHN-related disorder [RCV003938862]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001481001] Chr14:67168926 [GRCh38]
Chr14:67635643 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1140C>T (p.Tyr380=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001434506] Chr14:67058782 [GRCh38]
Chr14:67525499 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1281A>G (p.Gln427=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001470910] Chr14:67100899 [GRCh38]
Chr14:67567616 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.582C>T (p.Ser194=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001445846] Chr14:66922791 [GRCh38]
Chr14:67389508 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.65-97del deletion not provided [RCV001539797] Chr14:66681000 [GRCh38]
Chr14:67147718 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1389C>A (p.Thr463=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403162] Chr14:67110235 [GRCh38]
Chr14:67576952 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1441C>T (p.Leu481=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001446868] Chr14:67111888 [GRCh38]
Chr14:67578605 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.64+7G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001449231] Chr14:66508598 [GRCh38]
Chr14:66975316 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.828+7C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001407900] Chr14:66924299 [GRCh38]
Chr14:67391016 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1488C>T (p.Asp496=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001429174] Chr14:67113033 [GRCh38]
Chr14:67579750 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1113G>A (p.Pro371=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001444845] Chr14:67058755 [GRCh38]
Chr14:67525472 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1842T>C (p.Tyr614=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001401458] Chr14:67159420 [GRCh38]
Chr14:67626137 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1293+8T>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001431505] Chr14:67100919 [GRCh38]
Chr14:67567636 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.357A>T (p.Ser119=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001408542] Chr14:66880001 [GRCh38]
Chr14:67346719 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1975+15T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001447773] Chr14:67165241 [GRCh38]
Chr14:67631958 [GRCh37]
Chr14:14q23.3		 likely benign
NC_000014.8:g.(?_67243172)_(67291294_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001388762] Chr14:67243172..67291294 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.315A>G (p.Glu105=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001473325] Chr14:66879959 [GRCh38]
Chr14:67346677 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1472+91A>G single nucleotide variant not provided [RCV001687801] Chr14:67112010 [GRCh38]
Chr14:67578727 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.156T>C (p.Thr52=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001459526] Chr14:66776476 [GRCh38]
Chr14:67243194 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1896T>G (p.Val632=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001496801] Chr14:67159474 [GRCh38]
Chr14:67626191 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.730-276del deletion not provided [RCV001687605] Chr14:66923909 [GRCh38]
Chr14:67390626 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.723T>G (p.Ala241=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001459834] Chr14:66922932 [GRCh38]
Chr14:67389649 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1342G>T (p.Ala448Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001866132]|not provided [RCV001589716] Chr14:67110188 [GRCh38]
Chr14:67576905 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.201+258A>G single nucleotide variant not provided [RCV001616188] Chr14:66776779 [GRCh38]
Chr14:67243497 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.2176+109T>C single nucleotide variant not provided [RCV001716485] Chr14:67179783 [GRCh38]
Chr14:67646500 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.64+9G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001487856] Chr14:66508600 [GRCh38]
Chr14:66975318 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2022T>C (p.Pro674=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001482819]|not provided [RCV003405683] Chr14:67168979 [GRCh38]
Chr14:67635696 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1404A>G (p.Glu468=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403512] Chr14:67110250 [GRCh38]
Chr14:67576967 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.963+7A>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001506778] Chr14:66965332 [GRCh38]
Chr14:67432049 [GRCh37]
Chr14:14q23.3		 likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_020806.5(GPHN):c.1414-15C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001513955]|not provided [RCV004715441] Chr14:67111846 [GRCh38]
Chr14:67578563 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.64+10G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001465976] Chr14:66508601 [GRCh38]
Chr14:66975319 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.669T>C (p.Gly223=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001485114] Chr14:66922878 [GRCh38]
Chr14:67389595 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.457-15T>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001423695] Chr14:66922651 [GRCh38]
Chr14:67389368 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1472+8C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001434788] Chr14:67111927 [GRCh38]
Chr14:67578644 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2080-14A>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001522233]|not provided [RCV001615213] Chr14:67179564 [GRCh38]
Chr14:67646281 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.1305A>G (p.Thr435=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001456662] Chr14:67110151 [GRCh38]
Chr14:67576868 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.763A>G (p.Met255Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003108777] Chr14:66924227 [GRCh38]
Chr14:67390944 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_016026.4(RDH11):c.323G>A (p.Arg108Gln) single nucleotide variant not provided [RCV002037050]|not specified [RCV004044905] Chr14:67692464 [GRCh38]
Chr14:68159181 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_004569.5(PIGH):c.1A>T (p.Met1Leu) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 17 [RCV000656656] Chr14:67600203 [GRCh38]
Chr14:68066920 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_004569.5(PIGH):c.307T>C (p.Ser103Pro) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 17 [RCV000656657] Chr14:67593826 [GRCh38]
Chr14:68060543 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.152T>C (p.Ile51Thr) single nucleotide variant Retinitis pigmentosa [RCV000678607] Chr14:67724556 [GRCh38]
Chr14:68191273 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.202A>G (p.Ile68Val) single nucleotide variant Leber congenital amaurosis 13 [RCV001957993] Chr14:67725113 [GRCh38]
Chr14:68191830 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_006370.3(VTI1B):c.254G>A (p.Arg85Gln) single nucleotide variant not specified [RCV004683348] Chr14:67659843 [GRCh38]
Chr14:68126560 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_006370.3(VTI1B):c.533A>C (p.Lys178Thr) single nucleotide variant not specified [RCV004683350] Chr14:67656423 [GRCh38]
Chr14:68123140 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.964-34A>G single nucleotide variant not provided [RCV001786818] Chr14:67023599 [GRCh38]
Chr14:67490316 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1294-187C>T single nucleotide variant not provided [RCV001786918] Chr14:67109953 [GRCh38]
Chr14:67576670 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.577_578del (p.Leu193fs) microsatellite Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003771985]|not provided [RCV001763558] Chr14:66922784..66922785 [GRCh38]
Chr14:67389501..67389502 [GRCh37]
Chr14:14q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_020806.5(GPHN):c.2054C>T (p.Pro685Leu) single nucleotide variant not provided [RCV001764123] Chr14:67169011 [GRCh38]
Chr14:67635728 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.550G>A (p.Glu184Lys) single nucleotide variant not provided [RCV001766930] Chr14:66922759 [GRCh38]
Chr14:67389476 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.950G>T (p.Cys317Phe) single nucleotide variant not provided [RCV001768952] Chr14:66965312 [GRCh38]
Chr14:67432029 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.749G>T (p.Ser250Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505182]|not provided [RCV001764764] Chr14:66924213 [GRCh38]
Chr14:67390930 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.457-109T>C single nucleotide variant not provided [RCV001786750] Chr14:66922557 [GRCh38]
Chr14:67389274 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1238-31T>C single nucleotide variant not provided [RCV001786837] Chr14:67100825 [GRCh38]
Chr14:67567542 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1627-105G>A single nucleotide variant not provided [RCV001786796] Chr14:67122151 [GRCh38]
Chr14:67588868 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1910+118del deletion not provided [RCV001762895] Chr14:67159598 [GRCh38]
Chr14:67626315 [GRCh37]
Chr14:14q23.3		 benign
NM_020806.5(GPHN):c.202-78A>G single nucleotide variant not provided [RCV001786843] Chr14:66824396 [GRCh38]
Chr14:67291114 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.2071A>T (p.Lys691Ter) single nucleotide variant not provided [RCV001758256] Chr14:67169028 [GRCh38]
Chr14:67635745 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.-1C>T single nucleotide variant not provided [RCV001752255] Chr14:66508527 [GRCh38]
Chr14:66975245 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.589C>A (p.Pro197Thr) single nucleotide variant not provided [RCV001806512] Chr14:66922798 [GRCh38]
Chr14:67389515 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1136A>T (p.Asn379Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002041824] Chr14:67058778 [GRCh38]
Chr14:67525495 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.2123G>A (p.Arg708Gln) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001947319] Chr14:67179621 [GRCh38]
Chr14:67646338 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1466A>G (p.Asp489Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002045615] Chr14:67111913 [GRCh38]
Chr14:67578630 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1642G>C (p.Asp548His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001896193] Chr14:67122271 [GRCh38]
Chr14:67588988 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.238A>C (p.Asn80His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001874330] Chr14:66824510 [GRCh38]
Chr14:67291228 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.277C>T (p.Arg93Ter) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001949542] Chr14:66824549 [GRCh38]
Chr14:67291267 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.158T>C (p.Ile53Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002006689] Chr14:66776478 [GRCh38]
Chr14:67243196 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1413+2T>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002024387] Chr14:67110261 [GRCh38]
Chr14:67576978 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1350A>G (p.Ile450Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001895928] Chr14:67110196 [GRCh38]
Chr14:67576913 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1804A>G (p.Ile602Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001892176] Chr14:67143417 [GRCh38]
Chr14:67610134 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.595A>G (p.Thr199Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002024591] Chr14:66922804 [GRCh38]
Chr14:67389521 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1977G>T (p.Gly659=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002039886] Chr14:67168934 [GRCh38]
Chr14:67635651 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67137765-67315163) copy number loss not specified [RCV002053107] Chr14:67137765..67315163 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1732G>A (p.Gly578Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002040604] Chr14:67122361 [GRCh38]
Chr14:67589078 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1129A>G (p.Ile377Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001969185] Chr14:67058771 [GRCh38]
Chr14:67525488 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67248476-67362863) copy number loss not specified [RCV002053108] Chr14:67248476..67362863 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67147805)_(67291304_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001946946] Chr14:67147805..67291304 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002041060] Chr14:67180902 [GRCh38]
Chr14:67647619 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1249C>G (p.Pro417Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002039581] Chr14:67100867 [GRCh38]
Chr14:67567584 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1414-14G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001927822] Chr14:67111847 [GRCh38]
Chr14:67578564 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67243162)_(67490412_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001949464] Chr14:67243162..67490412 [GRCh37]
Chr14:14q23.3		 pathogenic
NC_000014.8:g.(?_67291172)_(67391029_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001912935] Chr14:67291172..67391029 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1987T>C (p.Ser663Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001982665] Chr14:67168944 [GRCh38]
Chr14:67635661 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.828+1G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001823444] Chr14:66924293 [GRCh38]
Chr14:67391010 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1300C>G (p.Gln434Glu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001928744] Chr14:67110146 [GRCh38]
Chr14:67576863 [GRCh37]
Chr14:14q23.3		 uncertain significance
GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682) copy number gain not specified [RCV002053109] Chr14:67443801..68153682 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_020806.5(GPHN):c.1790G>A (p.Arg597His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001913373] Chr14:67143403 [GRCh38]
Chr14:67610120 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_64746679)_(66975329_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002007295] Chr14:64746679..66975329 [GRCh37]
Chr14:14q23.2-23.3		 pathogenic
NM_020806.5(GPHN):c.1334C>T (p.Thr445Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001913113] Chr14:67110180 [GRCh38]
Chr14:67576897 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.188T>C (p.Ile63Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001984268] Chr14:66776508 [GRCh38]
Chr14:67243226 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.496A>G (p.Ile166Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001893397] Chr14:66922705 [GRCh38]
Chr14:67389422 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.3(RDH12):c.210dup (p.Arg71fs) duplication Leber congenital amaurosis 13 [RCV001067765]|Leber congenital amaurosis [RCV001826911]|Retinal dystrophy [RCV001073904]|not provided [RCV000330650] Chr14:67725120..67725121 [GRCh38]
Chr14:68191837..68191838 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_020806.5(GPHN):c.1976-3C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002004352] Chr14:67168930 [GRCh38]
Chr14:67635647 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_016026.4(RDH11):c.747G>A (p.Met249Ile) single nucleotide variant not provided [RCV001235745]|not specified [RCV004033289] Chr14:67685122 [GRCh38]
Chr14:68151839 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q23.3(chr14:67035959-67496522)x1 copy number loss not provided [RCV001834209] Chr14:67035959..67496522 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.2205C>T (p.Ser735=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001999699] Chr14:67180832 [GRCh38]
Chr14:67647549 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.828+8_828+9del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002037579] Chr14:66924300..66924301 [GRCh38]
Chr14:67391017..67391018 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1144G>C (p.Asp382His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002038037] Chr14:67058786 [GRCh38]
Chr14:67525503 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.346C>G (p.Leu116Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001943888] Chr14:66879990 [GRCh38]
Chr14:67346708 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1503A>C (p.Glu501Asp) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001957085] Chr14:67113048 [GRCh38]
Chr14:67579765 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1735A>G (p.Ile579Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002000700] Chr14:67122364 [GRCh38]
Chr14:67589081 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1067T>C (p.Leu356Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001907495] Chr14:67058709 [GRCh38]
Chr14:67525426 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.136C>T (p.Pro46Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001905318] Chr14:66681178 [GRCh38]
Chr14:67147896 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.884C>T (p.Ser295Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001887742] Chr14:66965246 [GRCh38]
Chr14:67431963 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp) single nucleotide variant Leber congenital amaurosis 13 [RCV001850657]|Retinal dystrophy [RCV003888726]|Retinitis Pigmentosa, Recessive [RCV000381378]|Retinitis pigmentosa [RCV001109345] Chr14:67725194 [GRCh38]
Chr14:68191911 [GRCh37]
Chr14:14q24.1		 benign|uncertain significance
NC_000014.8:g.(?_67567553)_(67589114_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002036520] Chr14:67567553..67589114 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1712G>A (p.Gly571Asp) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001996017] Chr14:67122341 [GRCh38]
Chr14:67589058 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67431888)_(67525523_?)dup duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002036537] Chr14:67431888..67525523 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1827G>A (p.Met609Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001981529] Chr14:67143440 [GRCh38]
Chr14:67610157 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.914G>A (p.Arg305His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002012329] Chr14:66965276 [GRCh38]
Chr14:67431993 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.779A>G (p.Gln260Arg) single nucleotide variant Inborn genetic diseases [RCV004044042]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001943447] Chr14:66924243 [GRCh38]
Chr14:67390960 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1911-5T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001901310] Chr14:67165157 [GRCh38]
Chr14:67631874 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.535G>A (p.Val179Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002033706] Chr14:66922744 [GRCh38]
Chr14:67389461 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1234C>T (p.Arg412Ter) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001941687] Chr14:67089072 [GRCh38]
Chr14:67555789 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1739T>C (p.Val580Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001921136] Chr14:67122368 [GRCh38]
Chr14:67589085 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1414-13_1414-12insTCGG insertion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029283] Chr14:67111845..67111846 [GRCh38]
Chr14:67578562..67578563 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NC_000014.8:g.(?_67147805)_(67243259_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001972662] Chr14:67147805..67243259 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.508C>T (p.Arg170Cys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001952973] Chr14:66922717 [GRCh38]
Chr14:67389434 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1363G>A (p.Asp455Asn) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001931009] Chr14:67110209 [GRCh38]
Chr14:67576926 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1199C>A (p.Pro400His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001876350] Chr14:67089037 [GRCh38]
Chr14:67555754 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.322G>A (p.Ala108Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001933809] Chr14:66879966 [GRCh38]
Chr14:67346684 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1144+6A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001933993] Chr14:67058792 [GRCh38]
Chr14:67525509 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67346637)_(67391029_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001923158] Chr14:67346637..67391029 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1935G>C (p.Leu645Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001866331] Chr14:67165186 [GRCh38]
Chr14:67631903 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1765A>G (p.Asn589Asp) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029936] Chr14:67143378 [GRCh38]
Chr14:67610095 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1907dup (p.Gly637fs) duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001994508] Chr14:67159483..67159484 [GRCh38]
Chr14:67626200..67626201 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.413A>G (p.Lys138Arg) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002013310] Chr14:66916026 [GRCh38]
Chr14:67382743 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.728A>G (p.Lys243Arg) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001936521] Chr14:66922937 [GRCh38]
Chr14:67389654 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.796A>T (p.Ile266Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001954913] Chr14:66924260 [GRCh38]
Chr14:67390977 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1328G>T (p.Arg443Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029058] Chr14:67110174 [GRCh38]
Chr14:67576891 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67243162)_(67525523_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001972454] Chr14:67243162..67525523 [GRCh37]
Chr14:14q23.3		 pathogenic
NC_000014.8:g.(?_67382700)_(67432062_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001959012] Chr14:67382700..67432062 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1060T>C (p.Phe354Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002018776] Chr14:67058702 [GRCh38]
Chr14:67525419 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67525346)_(67567648_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001975229] Chr14:67525346..67567648 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1679G>A (p.Arg560His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002017097] Chr14:67122308 [GRCh38]
Chr14:67589025 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1753G>C (p.Asp585His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001906922] Chr14:67143366 [GRCh38]
Chr14:67610083 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.64+6C>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050909] Chr14:66508597 [GRCh38]
Chr14:66975315 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1445T>G (p.Val482Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001898237] Chr14:67111892 [GRCh38]
Chr14:67578609 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1927G>A (p.Ala643Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001973184] Chr14:67165178 [GRCh38]
Chr14:67631895 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.25A>G (p.Thr9Ala) single nucleotide variant Inborn genetic diseases [RCV004040627]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001879274] Chr14:66508552 [GRCh38]
Chr14:66975270 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.509G>A (p.Arg170His) single nucleotide variant Inborn genetic diseases [RCV004041566]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001919754] Chr14:66922718 [GRCh38]
Chr14:67389435 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1738G>T (p.Val580Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001997931] Chr14:67122367 [GRCh38]
Chr14:67589084 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1975+2T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050084] Chr14:67165228 [GRCh38]
Chr14:67631945 [GRCh37]
Chr14:14q23.3		 likely pathogenic
NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002012490]|not provided [RCV003408055] Chr14:67110182 [GRCh38]
Chr14:67576899 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.394G>C (p.Val132Leu) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001881008] Chr14:66916007 [GRCh38]
Chr14:67382724 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.857T>G (p.Val286Gly) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002016012] Chr14:66965219 [GRCh38]
Chr14:67431936 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.111A>G (p.Ile37Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001878649] Chr14:66681153 [GRCh38]
Chr14:67147871 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.652_654del (p.Glu218del) deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001898840] Chr14:66922861..66922863 [GRCh38]
Chr14:67389578..67389580 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67147815)_(67147913_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001958864] Chr14:67147815..67147913 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1594C>T (p.Pro532Ser) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001932847] Chr14:67113139 [GRCh38]
Chr14:67579856 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.2185A>G (p.Met729Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001883634] Chr14:67180812 [GRCh38]
Chr14:67647529 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.49G>A (p.Val17Ile) single nucleotide variant Inborn genetic diseases [RCV003170132]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001997304] Chr14:66508576 [GRCh38]
Chr14:66975294 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NM_020806.5(GPHN):c.2177-8C>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029709] Chr14:67180796 [GRCh38]
Chr14:67647513 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser) single nucleotide variant Inborn genetic diseases [RCV002557586]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001935181] Chr14:67143381 [GRCh38]
Chr14:67610098 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.922G>C (p.Ala308Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002031819] Chr14:66965284 [GRCh38]
Chr14:67432001 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.422T>C (p.Ile141Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001972228] Chr14:66916035 [GRCh38]
Chr14:67382752 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67346637)_(67432062_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001951272] Chr14:67346637..67432062 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.767C>T (p.Ala256Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050181] Chr14:66924231 [GRCh38]
Chr14:67390948 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.201+12C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001936701] Chr14:66776533 [GRCh38]
Chr14:67243251 [GRCh37]
Chr14:14q23.3		 likely benign|uncertain significance
NC_000014.8:g.(?_67626112)_(67647654_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001919041] Chr14:67626112..67647654 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_020806.5(GPHN):c.994A>G (p.Ile332Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002013015] Chr14:67023663 [GRCh38]
Chr14:67490380 [GRCh37]
Chr14:14q23.3		 uncertain significance
NC_000014.8:g.(?_67490330)_(67555812_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001972453] Chr14:67490330..67555812 [GRCh37]
Chr14:14q23.3		 pathogenic
NM_020806.5(GPHN):c.1479C>T (p.Ile493=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001951464] Chr14:67113024 [GRCh38]
Chr14:67579741 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.281T>C (p.Val94Ala) single nucleotide variant Leber congenital amaurosis 13 [RCV002036663] Chr14:67725192 [GRCh38]
Chr14:68191909 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) single nucleotide variant Leber congenital amaurosis 13 [RCV001057696]|Leber congenital amaurosis [RCV001420746] Chr14:67724543 [GRCh38]
Chr14:68191260 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) single nucleotide variant Leber congenital amaurosis 13 [RCV001223788]|Leber congenital amaurosis [RCV003155010]|RDH12-related disorder [RCV004734494]|Retinal dystrophy [RCV001073666]|Retinitis pigmentosa 53 [RCV000002142]|Retinitis pigmentosa [RCV000132691]|not provided [RCV001558134] Chr14:67726084 [GRCh38]
Chr14:68192801 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152443.3(RDH12):c.590G>T (p.Gly197Val) single nucleotide variant Leber congenital amaurosis 13 [RCV001361658]|Leber congenital amaurosis [RCV001277614] Chr14:67727122 [GRCh38]
Chr14:68193839 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.560A>G (p.Asp187Gly) single nucleotide variant Leber congenital amaurosis 13 [RCV001304561]|Retinal dystrophy [RCV001074473] Chr14:67727092 [GRCh38]
Chr14:68193809 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.216T>G (p.Asp72Glu) single nucleotide variant Leber congenital amaurosis 13 [RCV003768997]|Retinal dystrophy [RCV001074491] Chr14:67725127 [GRCh38]
Chr14:68191844 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.200G>A (p.Arg67Gln) single nucleotide variant not provided [RCV001886706] Chr14:67692587 [GRCh38]
Chr14:68159304 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) single nucleotide variant Leber congenital amaurosis 13 [RCV001387781]|not provided [RCV001268128] Chr14:67725137 [GRCh38]
Chr14:68191854 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) single nucleotide variant Leber congenital amaurosis 13 [RCV001387782]|Leber congenital amaurosis [RCV001831398] Chr14:67725137 [GRCh38]
Chr14:68191854 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.849-260G>C single nucleotide variant not provided [RCV001658530] Chr14:67733486 [GRCh38]
Chr14:68200203 [GRCh37]
Chr14:14q24.1		 benign
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) single nucleotide variant Leber congenital amaurosis 13 [RCV001000291]|Leber congenital amaurosis [RCV001277205]|Retinal dystrophy [RCV003888727]|Retinitis Pigmentosa, Recessive [RCV000292002]|Retinitis pigmentosa [RCV001109348]|not provided [RCV001683261]|not specified [RCV001805013] Chr14:67727014 [GRCh38]
Chr14:68193731 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.305C>G (p.Ser102Cys) single nucleotide variant not provided [RCV002041055] Chr14:67692482 [GRCh38]
Chr14:68159199 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV001246206]|Leber congenital amaurosis [RCV001827142]|Macular dystrophy [RCV000993748]|not specified [RCV004768764] Chr14:67724589 [GRCh38]
Chr14:68191306 [GRCh37]
Chr14:14q24.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) duplication Leber congenital amaurosis 13 [RCV001388911]|Leber congenital amaurosis [RCV003155408] Chr14:67727111..67727112 [GRCh38]
Chr14:68193828..68193829 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.32TCT[1] (p.Phe12del) microsatellite Leber congenital amaurosis 13 [RCV001983355] Chr14:67722672..67722674 [GRCh38]
Chr14:68189389..68189391 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.938T>C (p.Ile313Thr) single nucleotide variant Leber congenital amaurosis 13 [RCV001912916] Chr14:67733835 [GRCh38]
Chr14:68200552 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.542A>G (p.His181Arg) single nucleotide variant not provided [RCV002011279] Chr14:67690334 [GRCh38]
Chr14:68157051 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.456T>G (p.Gly152=) single nucleotide variant not provided [RCV000973042] Chr14:67690420 [GRCh38]
Chr14:68157137 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.69-16T>G single nucleotide variant Leber congenital amaurosis 13 [RCV002073438] Chr14:67724457 [GRCh38]
Chr14:68191174 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) single nucleotide variant Leber congenital amaurosis 13 [RCV001212314]|Leber congenital amaurosis [RCV003324554]|Retinal dystrophy [RCV001075351] Chr14:67727037 [GRCh38]
Chr14:68193754 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys) single nucleotide variant Leber congenital amaurosis 13 [RCV001255716]|Retinal dystrophy [RCV001075659] Chr14:67727131 [GRCh38]
Chr14:68193848 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.891_893dup (p.Asn297dup) duplication Leber congenital amaurosis 13 [RCV001363652] Chr14:67733785..67733786 [GRCh38]
Chr14:68200502..68200503 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.300C>T (p.Ser100=) single nucleotide variant Leber congenital amaurosis 13 [RCV001088243]|Leber congenital amaurosis [RCV001275428]|Retinitis pigmentosa [RCV001109346]|not provided [RCV000179018] Chr14:67725211 [GRCh38]
Chr14:68191928 [GRCh37]
Chr14:14q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) microsatellite Leber congenital amaurosis 13 [RCV001351335]|Leber congenital amaurosis [RCV001836353] Chr14:67722668..67722670 [GRCh38]
Chr14:68189385..68189387 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.798G>A (p.Leu266=) single nucleotide variant Leber congenital amaurosis 13 [RCV001406760]|Retinal dystrophy [RCV003888111] Chr14:67729330 [GRCh38]
Chr14:68196047 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) single nucleotide variant Leber congenital amaurosis [RCV003399392]|Retinal dystrophy [RCV001591833] Chr14:67729199 [GRCh38]
Chr14:68195916 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_152443.3(RDH12):c.*54G>C single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000353116]|Retinitis pigmentosa [RCV001111670] Chr14:67733902 [GRCh38]
Chr14:68200619 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.709C>T (p.Leu237=) single nucleotide variant Leber congenital amaurosis 13 [RCV001396771] Chr14:67729241 [GRCh38]
Chr14:68195958 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.*310T>C single nucleotide variant Retinitis pigmentosa [RCV001112134] Chr14:67734158 [GRCh38]
Chr14:68200875 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.665-11C>T single nucleotide variant not provided [RCV002088952] Chr14:67685215 [GRCh38]
Chr14:68151932 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.795C>T (p.Ser265=) single nucleotide variant Leber congenital amaurosis 13 [RCV001471591] Chr14:67729327 [GRCh38]
Chr14:68196044 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) single nucleotide variant Leber congenital amaurosis 13 [RCV001225544]|Retinal dystrophy [RCV001074758]|not provided [RCV002282454] Chr14:67726153 [GRCh38]
Chr14:68192870 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_016026.4(RDH11):c.798C>T (p.Thr266=) single nucleotide variant not provided [RCV002125467] Chr14:67685071 [GRCh38]
Chr14:68151788 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.30C>T (p.Ser10=) single nucleotide variant Leber congenital amaurosis 13 [RCV001408011] Chr14:67722672 [GRCh38]
Chr14:68189389 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.665-10C>T single nucleotide variant not provided [RCV002210496] Chr14:67685214 [GRCh38]
Chr14:68151931 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.659-12T>C single nucleotide variant Leber congenital amaurosis 13 [RCV001510147]|Retinitis Pigmentosa, Recessive [RCV000408169]|Retinitis pigmentosa [RCV001109350] Chr14:67729179 [GRCh38]
Chr14:68195896 [GRCh37]
Chr14:14q24.1		 benign|likely benign|uncertain significance
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) single nucleotide variant Leber congenital amaurosis 13 [RCV001235347]|Leber congenital amaurosis [RCV001828319]|Retinitis Pigmentosa, Recessive [RCV000408171]|Retinitis pigmentosa [RCV001111667] Chr14:67729280 [GRCh38]
Chr14:68195997 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.133G>A (p.Val45Met) single nucleotide variant RDH11-related disorder [RCV004731208]|not provided [RCV001950369] Chr14:67692994 [GRCh38]
Chr14:68159711 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.771G>A (p.Thr257=) single nucleotide variant Leber congenital amaurosis 13 [RCV000797654]|Leber congenital amaurosis [RCV001277206] Chr14:67729303 [GRCh38]
Chr14:68196020 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.600T>C (p.Tyr200=) single nucleotide variant Leber congenital amaurosis 13 [RCV000982244] Chr14:67727132 [GRCh38]
Chr14:68193849 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) single nucleotide variant Inborn genetic diseases [RCV002553383]|Leber congenital amaurosis 13 [RCV001059834]|Leber congenital amaurosis [RCV001275432]|RDH12-related disorder [RCV004735950] Chr14:67727101 [GRCh38]
Chr14:68193818 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.863_864del (p.His288fs) deletion not provided [RCV001244163] Chr14:67678414..67678415 [GRCh38]
Chr14:68145131..68145132 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) single nucleotide variant Macular dystrophy [RCV000993750]|Retinal dystrophy [RCV001075448] Chr14:67726147 [GRCh38]
Chr14:68192864 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_152443.3(RDH12):c.895A>C (p.Thr299Pro) single nucleotide variant Retinal dystrophy [RCV001075602] Chr14:67733792 [GRCh38]
Chr14:68200509 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) single nucleotide variant Leber congenital amaurosis 13 [RCV000002136]|Leber congenital amaurosis [RCV001277202]|Retinal dystrophy [RCV001075855]|Retinitis pigmentosa [RCV000993758]|not provided [RCV000594844] Chr14:67725206 [GRCh38]
Chr14:68191923 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.659-10T>C single nucleotide variant Leber congenital amaurosis 13 [RCV001401044] Chr14:67729181 [GRCh38]
Chr14:68195898 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.-275+12C>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000294464]|Retinitis pigmentosa [RCV001114985] Chr14:67701947 [GRCh38]
Chr14:68168664 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.905C>T (p.Ala302Val) single nucleotide variant not provided [RCV001308511] Chr14:67678373 [GRCh38]
Chr14:68145090 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.658+286G>T single nucleotide variant not provided [RCV001716430] Chr14:67727476 [GRCh38]
Chr14:68194193 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.454+2T>A single nucleotide variant not provided [RCV001825284] Chr14:67691138 [GRCh38]
Chr14:68157855 [GRCh37]
Chr14:14q24.1		 pathogenic|not provided
NM_152443.3(RDH12):c.138C>T (p.Gly46=) single nucleotide variant Leber congenital amaurosis 13 [RCV000884795]|Retinitis Pigmentosa, Recessive [RCV001114991] Chr14:67724542 [GRCh38]
Chr14:68191259 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.449-2A>G single nucleotide variant Leber congenital amaurosis 13 [RCV002046829] Chr14:67726979 [GRCh38]
Chr14:68193696 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_004094.5(EIF2S1):c.897A>G (p.Glu299=) single nucleotide variant not provided [RCV000879383] Chr14:67383389 [GRCh38]
Chr14:67850106 [GRCh37]
Chr14:14q23.3		 benign
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) single nucleotide variant Leber congenital amaurosis 13 [RCV001255720] Chr14:67722680 [GRCh38]
Chr14:68189397 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_020806.5(GPHN):c.582C>G (p.Ser194=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002104369] Chr14:66922791 [GRCh38]
Chr14:67389508 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.380G>A (p.Gly127Glu) single nucleotide variant Leber congenital amaurosis 13 [RCV002041061] Chr14:67726087 [GRCh38]
Chr14:68192804 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.187+60G>A single nucleotide variant Leber congenital amaurosis 13 [RCV001533482]|not provided [RCV001673136] Chr14:67724651 [GRCh38]
Chr14:68191368 [GRCh37]
Chr14:14q24.1		 benign
NM_152443.3(RDH12):c.552C>T (p.Pro184=) single nucleotide variant Leber congenital amaurosis 13 [RCV001426622]|Leber congenital amaurosis [RCV001275431] Chr14:67727084 [GRCh38]
Chr14:68193801 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.630T>C (p.Phe210=) single nucleotide variant Leber congenital amaurosis 13 [RCV001408748] Chr14:67727162 [GRCh38]
Chr14:68193879 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) single nucleotide variant Leber congenital amaurosis 13 [RCV001053170]|Leber congenital amaurosis [RCV001828100]|Retinal dystrophy [RCV000225474] Chr14:67733807 [GRCh38]
Chr14:68200524 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016026.4(RDH11):c.361C>T (p.Leu121Phe) single nucleotide variant not provided [RCV001352507] Chr14:67691233 [GRCh38]
Chr14:68157950 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.931C>T (p.Leu311=) single nucleotide variant Leber congenital amaurosis 13 [RCV000897085]|Leber congenital amaurosis [RCV001275437] Chr14:67733828 [GRCh38]
Chr14:68200545 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV001876344] Chr14:67692498 [GRCh38]
Chr14:68159215 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.483A>G (p.Leu161=) single nucleotide variant not provided [RCV001412214] Chr14:67690393 [GRCh38]
Chr14:68157110 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.375T>C (p.Asn125=) single nucleotide variant Leber congenital amaurosis 13 [RCV000980202] Chr14:67726082 [GRCh38]
Chr14:68192799 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.849-6C>G single nucleotide variant Leber congenital amaurosis 13 [RCV001367282] Chr14:67733740 [GRCh38]
Chr14:68200457 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.*230A>C single nucleotide variant Retinitis pigmentosa [RCV001112132] Chr14:67734078 [GRCh38]
Chr14:68200795 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.*305G>A single nucleotide variant Retinitis Pigmentosa, Recessive [RCV001112133] Chr14:67734153 [GRCh38]
Chr14:68200870 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.*434A>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000367990]|Retinitis pigmentosa [RCV001112137] Chr14:67734282 [GRCh38]
Chr14:68200999 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.*557C>T single nucleotide variant Retinitis pigmentosa [RCV001112139]|not provided [RCV004693682] Chr14:67734405 [GRCh38]
Chr14:68201122 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.567G>A (p.Gln189=) single nucleotide variant Leber congenital amaurosis 13 [RCV001499570] Chr14:67727099 [GRCh38]
Chr14:68193816 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) single nucleotide variant Leber congenital amaurosis 13 [RCV001069487]|Leber congenital amaurosis [RCV001275429]|Retinitis Pigmentosa, Recessive [RCV001109347]|not provided [RCV000179016] Chr14:67725228 [GRCh38]
Chr14:68191945 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.777G>C (p.Arg259=) single nucleotide variant Leber congenital amaurosis 13 [RCV001505460] Chr14:67729309 [GRCh38]
Chr14:68196026 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV000148297]|not provided [RCV001302099] Chr14:67692465 [GRCh38]
Chr14:68159182 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_020806.5(GPHN):c.1975+19T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002073821] Chr14:67165245 [GRCh38]
Chr14:67631962 [GRCh37]
Chr14:14q23.3		 likely benign
NM_020806.5(GPHN):c.1836+18C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002112223] Chr14:67143467 [GRCh38]
Chr14:67610184 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) deletion Leber congenital amaurosis 13 [RCV001038076] Chr14:67729212..67729215 [GRCh38]
Chr14:68195929..68195932 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_016026.4(RDH11):c.55A>G (p.Met19Val) single nucleotide variant not provided [RCV001866757] Chr14:67695649 [GRCh38]
Chr14:68162366 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.405C>T (p.Tyr135=) single nucleotide variant not provided [RCV002109163] Chr14:67691189 [GRCh38]
Chr14:68157906 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.-152A>G single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000295115]|Retinitis pigmentosa [RCV001114987] Chr14:67722491 [GRCh38]
Chr14:68189208 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV000924444] Chr14:67685191 [GRCh38]
Chr14:68151908 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) single nucleotide variant Leber congenital amaurosis 13 [RCV001866151]|Retinitis pigmentosa [RCV001591830] Chr14:67724552 [GRCh38]
Chr14:68191269 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_020806.5(GPHN):c.201+11G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002168336] Chr14:66776532 [GRCh38]
Chr14:67243250 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.784dup (p.Ala262fs) duplication Leber congenital amaurosis 13 [RCV000803399] Chr14:67729311..67729312 [GRCh38]
Chr14:68196028..68196029 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.108G>C (p.Gln36His) single nucleotide variant Leber congenital amaurosis 13 [RCV002033724] Chr14:67724512 [GRCh38]
Chr14:68191229 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.715dup (p.Arg239fs) duplication Leber congenital amaurosis 13 [RCV001862488]|Retinal dystrophy [RCV001073230] Chr14:67729245..67729246 [GRCh38]
Chr14:68195962..68195963 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_016026.4(RDH11):c.856G>A (p.Asp286Asn) single nucleotide variant not provided [RCV001248728] Chr14:67678422 [GRCh38]
Chr14:68145139 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.350-4G>T single nucleotide variant not provided [RCV000940846] Chr14:67691248 [GRCh38]
Chr14:68157965 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.290G>A (p.Arg97Gln) single nucleotide variant not provided [RCV002023944] Chr14:67692497 [GRCh38]
Chr14:68159214 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.69-66_69-64del deletion not provided [RCV001709303] Chr14:67724393..67724395 [GRCh38]
Chr14:68191110..68191112 [GRCh37]
Chr14:14q24.1		 benign
NM_152443.3(RDH12):c.344-9G>A single nucleotide variant Leber congenital amaurosis 13 [RCV001506107] Chr14:67726042 [GRCh38]
Chr14:68192759 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.267A>T (p.Thr89=) single nucleotide variant RDH11-related disorder [RCV003963297]|not provided [RCV001409343] Chr14:67692520 [GRCh38]
Chr14:68159237 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) single nucleotide variant Cone-rod dystrophy [RCV002267718]|Leber congenital amaurosis 13 [RCV000002130]|Leber congenital amaurosis [RCV001277201]|not provided [RCV001091051] Chr14:67724550 [GRCh38]
Chr14:68191267 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.465C>T (p.Thr155=) single nucleotide variant Leber congenital amaurosis 13 [RCV001476944]|Leber congenital amaurosis [RCV001277612] Chr14:67726997 [GRCh38]
Chr14:68193714 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.712G>C (p.Val238Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV001303479] Chr14:67729244 [GRCh38]
Chr14:68195961 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.687T>C (p.Ser229=) single nucleotide variant not provided [RCV002166724] Chr14:67685182 [GRCh38]
Chr14:68151899 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.530C>T (p.Ala177Val) single nucleotide variant Leber congenital amaurosis 13 [RCV002539692]|not provided [RCV001700863] Chr14:67727062 [GRCh38]
Chr14:68193779 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_016026.4(RDH11):c.219G>C (p.Arg73=) single nucleotide variant not provided [RCV001469045] Chr14:67692568 [GRCh38]
Chr14:68159285 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.68+192A>C single nucleotide variant not provided [RCV001679637] Chr14:67722902 [GRCh38]
Chr14:68189619 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.194-8G>T single nucleotide variant not provided [RCV001455864] Chr14:67692601 [GRCh38]
Chr14:68159318 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) single nucleotide variant Leber congenital amaurosis 13 [RCV000002129] Chr14:67727097 [GRCh38]
Chr14:68193814 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.69-5G>A single nucleotide variant Leber congenital amaurosis 13 [RCV001434691]|RDH12-related disorder [RCV004540321] Chr14:67724468 [GRCh38]
Chr14:68191185 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.714C>T (p.Val238=) single nucleotide variant Leber congenital amaurosis 13 [RCV002084836] Chr14:67729246 [GRCh38]
Chr14:68195963 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) single nucleotide variant Leber congenital amaurosis 13 [RCV000989237] Chr14:67724529 [GRCh38]
Chr14:68191246 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_152443.3(RDH12):c.240C>T (p.Ala80=) single nucleotide variant Leber congenital amaurosis 13 [RCV001484663] Chr14:67725151 [GRCh38]
Chr14:68191868 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.658+186G>C single nucleotide variant not provided [RCV001668796] Chr14:67727376 [GRCh38]
Chr14:68194093 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.442G>A (p.Val148Ile) single nucleotide variant not provided [RCV001976853] Chr14:67691152 [GRCh38]
Chr14:68157869 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.630T>G (p.Phe210Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV002046687] Chr14:67727162 [GRCh38]
Chr14:68193879 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.677C>T (p.Thr226Met) single nucleotide variant not provided [RCV002047023] Chr14:67685192 [GRCh38]
Chr14:68151909 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.784del (p.Ala262fs) deletion Leber congenital amaurosis 13 [RCV001975030]|Leber congenital amaurosis [RCV003485755] Chr14:67729312 [GRCh38]
Chr14:68196029 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.384A>G (p.Val128=) single nucleotide variant Leber congenital amaurosis 13 [RCV001466720]|Leber congenital amaurosis [RCV001832127] Chr14:67726091 [GRCh38]
Chr14:68192808 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer) deletion Leber congenital amaurosis 13 [RCV001993303] Chr14:67722693 [GRCh38]
Chr14:68189410 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.498C>A (p.Ala166=) single nucleotide variant Leber congenital amaurosis 13 [RCV000934786] Chr14:67727030 [GRCh38]
Chr14:68193747 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.576C>T (p.Gly192=) single nucleotide variant not provided [RCV001231925] Chr14:67690300 [GRCh38]
Chr14:68157017 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.455-14G>C single nucleotide variant not provided [RCV001520338] Chr14:67690435 [GRCh38]
Chr14:68157152 [GRCh37]
Chr14:14q24.1		 benign
NM_152443.3(RDH12):c.187+5G>A single nucleotide variant Leber congenital amaurosis [RCV001277609] Chr14:67724596 [GRCh38]
Chr14:68191313 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.540T>G (p.Ile180Met) single nucleotide variant Leber congenital amaurosis [RCV001277613] Chr14:67727072 [GRCh38]
Chr14:68193789 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.812C>T (p.Ala271Val) single nucleotide variant not provided [RCV001923084] Chr14:67685057 [GRCh38]
Chr14:68151774 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.390-4T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002188116] Chr14:66915999 [GRCh38]
Chr14:67382716 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.354G>A (p.Gln118=) single nucleotide variant Leber congenital amaurosis 13 [RCV001477035] Chr14:67726061 [GRCh38]
Chr14:68192778 [GRCh37]
Chr14:14q24.1		 likely benign
NM_020806.5(GPHN):c.202-16T>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002191234] Chr14:66824458 [GRCh38]
Chr14:67291176 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) indel Leber congenital amaurosis 13 [RCV001038512]|not specified [RCV001732019] Chr14:67729230..67729231 [GRCh38]
Chr14:68195947..68195948 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|uncertain significance
NM_022474.4(PALS1):c.963+10C>T single nucleotide variant not provided [RCV000884034] Chr14:67302581 [GRCh38]
Chr14:67769298 [GRCh37]
Chr14:14q23.3		 benign
NM_016026.4(RDH11):c.523G>A (p.Val175Met) single nucleotide variant not provided [RCV001239503] Chr14:67690353 [GRCh38]
Chr14:68157070 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_022474.4(PALS1):c.94C>T (p.His32Tyr) single nucleotide variant Atypical Rett syndrome [RCV001564028] Chr14:67279264 [GRCh38]
Chr14:67745981 [GRCh37]
Chr14:14q23.3		 uncertain significance
NM_152443.3(RDH12):c.456C>T (p.Phe152=) single nucleotide variant Leber congenital amaurosis 13 [RCV001487288] Chr14:67726988 [GRCh38]
Chr14:68193705 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) single nucleotide variant Leber congenital amaurosis 13 [RCV001205016]|Leber congenital amaurosis [RCV001828646]|not specified [RCV004690012] Chr14:67726114 [GRCh38]
Chr14:68192831 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_152443.3(RDH12):c.69-1G>A single nucleotide variant Leber congenital amaurosis 13 [RCV002017204] Chr14:67724472 [GRCh38]
Chr14:68191189 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_016026.4(RDH11):c.350-4G>A single nucleotide variant not provided [RCV001442025] Chr14:67691248 [GRCh38]
Chr14:68157965 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.141C>A (p.Ala47=) single nucleotide variant Leber congenital amaurosis 13 [RCV001436616]|not provided [RCV004706149] Chr14:67724545 [GRCh38]
Chr14:68191262 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.340T>C (p.Phe114Leu) single nucleotide variant not provided [RCV001226242] Chr14:67692447 [GRCh38]
Chr14:68159164 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.63C>T (p.Ser21=) single nucleotide variant Leber congenital amaurosis 13 [RCV001444262] Chr14:67722705 [GRCh38]
Chr14:68189422 [GRCh37]
Chr14:14q24.1		 likely benign
NM_020806.5(GPHN):c.389+13C>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002089868] Chr14:66880046 [GRCh38]
Chr14:67346764 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.236C>T (p.Ala79Val) single nucleotide variant Leber congenital amaurosis 13 [RCV001919638] Chr14:67725147 [GRCh38]
Chr14:68191864 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.69-181C>T single nucleotide variant not provided [RCV001647861] Chr14:67724292 [GRCh38]
Chr14:68191009 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.23T>C (p.Leu8Pro) single nucleotide variant not provided [RCV001907358] Chr14:67695681 [GRCh38]
Chr14:68162398 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.936C>T (p.Leu312=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002168968] Chr14:66965298 [GRCh38]
Chr14:67432015 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.451C>A (p.His151Asn) single nucleotide variant Leber congenital amaurosis 13 [RCV000002133] Chr14:67726983 [GRCh38]
Chr14:68193700 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.216T>C (p.Asp72=) single nucleotide variant Leber congenital amaurosis 13 [RCV001414717] Chr14:67725127 [GRCh38]
Chr14:68191844 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.368T>C (p.Val123Ala) single nucleotide variant not provided [RCV001297425] Chr14:67691226 [GRCh38]
Chr14:68157943 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1473-7C>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002165582] Chr14:67113011 [GRCh38]
Chr14:67579728 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.*27G>A single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000298273]|Retinitis pigmentosa [RCV001111669] Chr14:67733875 [GRCh38]
Chr14:68200592 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV000993755]|Leber congenital amaurosis [RCV000754982]|not provided [RCV001584547] Chr14:67727056 [GRCh38]
Chr14:68193773 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) single nucleotide variant Leber congenital amaurosis 13 [RCV000993754] Chr14:67725126 [GRCh38]
Chr14:68191843 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_016026.4(RDH11):c.645A>T (p.Glu215Asp) single nucleotide variant not provided [RCV001349181]|not specified [RCV004036575] Chr14:67690231 [GRCh38]
Chr14:68156948 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.839G>A (p.Ser280Asn) single nucleotide variant not provided [RCV001305312] Chr14:67685030 [GRCh38]
Chr14:68151747 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.848+14A>G single nucleotide variant Leber congenital amaurosis 13 [RCV002207963] Chr14:67729394 [GRCh38]
Chr14:68196111 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) single nucleotide variant Leber congenital amaurosis 13 [RCV001202459]|Leber congenital amaurosis [RCV001833781] Chr14:67727114 [GRCh38]
Chr14:68193831 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.69-65_69-64del deletion not provided [RCV001682466] Chr14:67724393..67724394 [GRCh38]
Chr14:68191110..68191111 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.171A>G (p.Thr57=) single nucleotide variant not provided [RCV001458534] Chr14:67692956 [GRCh38]
Chr14:68159673 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.208T>G (p.Leu70Val) single nucleotide variant not provided [RCV002027652] Chr14:67692579 [GRCh38]
Chr14:68159296 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.709T>C (p.Ser237Pro) single nucleotide variant not provided [RCV001233119] Chr14:67685160 [GRCh38]
Chr14:68151877 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.121G>A (p.Gly41Arg) single nucleotide variant not provided [RCV001342050]|not specified [RCV004035981] Chr14:67693006 [GRCh38]
Chr14:68159723 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) single nucleotide variant Leber congenital amaurosis 13 [RCV001340739] Chr14:67724550 [GRCh38]
Chr14:68191267 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016026.4(RDH11):c.673G>C (p.Val225Leu) single nucleotide variant not provided [RCV001895328] Chr14:67685196 [GRCh38]
Chr14:68151913 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.46C>G (p.Leu16Val) single nucleotide variant not provided [RCV001360476]|not specified [RCV004036765] Chr14:67695658 [GRCh38]
Chr14:68162375 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001172.4(ARG2):c.108G>A (p.Gly36=) single nucleotide variant not provided [RCV000886906] Chr14:67620085 [GRCh38]
Chr14:68086802 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.235G>A (p.Glu79Lys) single nucleotide variant not provided [RCV001510698] Chr14:67692552 [GRCh38]
Chr14:68159269 [GRCh37]
Chr14:14q24.1		 benign
NM_020806.5(GPHN):c.2256C>T (p.Tyr752=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002127793] Chr14:67180883 [GRCh38]
Chr14:67647600 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.203T>C (p.Ile68Thr) single nucleotide variant Leber congenital amaurosis 13 [RCV001043007] Chr14:67725114 [GRCh38]
Chr14:68191831 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) single nucleotide variant Leber congenital amaurosis [RCV001733411] Chr14:67729230 [GRCh38]
Chr14:68195947 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.165G>A (p.Thr55=) single nucleotide variant Leber congenital amaurosis 13 [RCV001397083]|Leber congenital amaurosis [RCV001277608] Chr14:67724569 [GRCh38]
Chr14:68191286 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) single nucleotide variant Leber congenital amaurosis 13 [RCV000821787]|Leber congenital amaurosis [RCV001830813] Chr14:67727141 [GRCh38]
Chr14:68193858 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) single nucleotide variant Leber congenital amaurosis 13 [RCV000002127]|Retinal dystrophy [RCV001073384]|not provided [RCV001092306] Chr14:67729209 [GRCh38]
Chr14:68195926 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.745C>A (p.Arg249=) single nucleotide variant Leber congenital amaurosis 13 [RCV001438677] Chr14:67729277 [GRCh38]
Chr14:68195994 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.423A>G (p.Glu141=) single nucleotide variant Leber congenital amaurosis 13 [RCV001438790] Chr14:67726130 [GRCh38]
Chr14:68192847 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.684G>T (p.Val228=) single nucleotide variant Leber congenital amaurosis 13 [RCV001426520] Chr14:67729216 [GRCh38]
Chr14:68195933 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.448+14G>A single nucleotide variant Leber congenital amaurosis 13 [RCV001426535] Chr14:67726169 [GRCh38]
Chr14:68192886 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.907C>T (p.Leu303=) single nucleotide variant Leber congenital amaurosis 13 [RCV001446838] Chr14:67733804 [GRCh38]
Chr14:68200521 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.227A>G (p.Glu76Gly) single nucleotide variant not provided [RCV001991046] Chr14:67692560 [GRCh38]
Chr14:68159277 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV001383004]|Retinal dystrophy [RCV001075033] Chr14:67729229 [GRCh38]
Chr14:68195946 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.157_187+178del deletion Leber congenital amaurosis 13 [RCV000820774] Chr14:67724560..67724768 [GRCh38]
Chr14:68191277..68191485 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_016026.4(RDH11):c.220G>C (p.Asp74His) single nucleotide variant not provided [RCV002036435] Chr14:67692567 [GRCh38]
Chr14:68159284 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) single nucleotide variant Leber congenital amaurosis 13 [RCV001043460]|Leber congenital amaurosis [RCV001836079] Chr14:67727140 [GRCh38]
Chr14:68193857 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.759del (p.Phe254fs) deletion Leber congenital amaurosis 13 [RCV003769395]|Retinal dystrophy [RCV003890160]|Retinitis pigmentosa [RCV001003157] Chr14:67729287 [GRCh38]
Chr14:68196004 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) single nucleotide variant Leber congenital amaurosis 13 [RCV001387133]|Retinal dystrophy [RCV001073785] Chr14:67727133 [GRCh38]
Chr14:68193850 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) single nucleotide variant Leber congenital amaurosis 13 [RCV001316202]|Leber congenital amaurosis [RCV001826912]|RDH12-related disorder [RCV004725029]|not provided [RCV000179020] Chr14:67725213 [GRCh38]
Chr14:68191930 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) single nucleotide variant Leber congenital amaurosis 13 [RCV001243650]|Leber congenital amaurosis [RCV001833694]|Retinal dystrophy [RCV001075651]|not provided [RCV003117741]|not specified [RCV002222667] Chr14:67725195 [GRCh38]
Chr14:68191912 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_152443.3(RDH12):c.659-2A>C single nucleotide variant Leber congenital amaurosis 13 [RCV002038789] Chr14:67729189 [GRCh38]
Chr14:68195906 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_016026.4(RDH11):c.946C>G (p.Pro316Ala) single nucleotide variant not provided [RCV002010287] Chr14:67678332 [GRCh38]
Chr14:68145049 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_022474.4(PALS1):c.802-8A>T single nucleotide variant not provided [RCV000891289] Chr14:67302402 [GRCh38]
Chr14:67769119 [GRCh37]
Chr14:14q23.3		 benign
NM_152443.3(RDH12):c.345G>C (p.Glu115Asp) single nucleotide variant Leber congenital amaurosis 13 [RCV001578813] Chr14:67726052 [GRCh38]
Chr14:68192769 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) single nucleotide variant Leber congenital amaurosis 13 [RCV001043608]|Leber congenital amaurosis [RCV001277203] Chr14:67726144 [GRCh38]
Chr14:68192861 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) single nucleotide variant Leber congenital amaurosis 13 [RCV000645726]|Leber congenital amaurosis [RCV001835041]|Retinitis pigmentosa [RCV001003156] Chr14:67729248 [GRCh38]
Chr14:68195965 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|uncertain significance
NM_152443.3(RDH12):c.117C>A (p.Gly39=) single nucleotide variant Leber congenital amaurosis 13 [RCV001468646] Chr14:67724521 [GRCh38]
Chr14:68191238 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.636T>C (p.Arg212=) single nucleotide variant Leber congenital amaurosis 13 [RCV001402959] Chr14:67727168 [GRCh38]
Chr14:68193885 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.436A>G (p.Ile146Val) single nucleotide variant not provided [RCV001963552]|not specified [RCV004044531] Chr14:67691158 [GRCh38]
Chr14:68157875 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.241A>T (p.Ser81Cys) single nucleotide variant Leber congenital amaurosis 13 [RCV002022455] Chr14:67725152 [GRCh38]
Chr14:68191869 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.69-6C>T single nucleotide variant Leber congenital amaurosis 13 [RCV001498910] Chr14:67724467 [GRCh38]
Chr14:68191184 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys) single nucleotide variant Leber congenital amaurosis 13 [RCV001248489]|Leber congenital amaurosis [RCV001835338] Chr14:67727166 [GRCh38]
Chr14:68193883 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.1293+7T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002210841] Chr14:67100918 [GRCh38]
Chr14:67567635 [GRCh37]
Chr14:14q23.3		 likely benign
NM_016026.4(RDH11):c.193+20A>G single nucleotide variant not provided [RCV002017655] Chr14:67692914 [GRCh38]
Chr14:68159631 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) single nucleotide variant Leber congenital amaurosis 13 [RCV000002134] Chr14:67729220 [GRCh38]
Chr14:68195937 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.459C>T (p.Leu153=) single nucleotide variant Leber congenital amaurosis 13 [RCV001434652] Chr14:67726991 [GRCh38]
Chr14:68193708 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) single nucleotide variant Leber congenital amaurosis 13 [RCV002557895]|Retinal dystrophy [RCV001073667] Chr14:67729247 [GRCh38]
Chr14:68195964 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.496del (p.Ala166fs) deletion Leber congenital amaurosis 13 [RCV001385024] Chr14:67727028 [GRCh38]
Chr14:68193745 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.68+1G>A single nucleotide variant Leber congenital amaurosis 13 [RCV001964550]|Leber congenital amaurosis [RCV003331233] Chr14:67722711 [GRCh38]
Chr14:68189428 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) single nucleotide variant Leber congenital amaurosis 13 [RCV001046958]|Retinal dystrophy [RCV001074474] Chr14:67729281 [GRCh38]
Chr14:68195998 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.579C>T (p.Arg193=) single nucleotide variant Leber congenital amaurosis 13 [RCV000878596]|Leber congenital amaurosis [RCV001825779] Chr14:67727111 [GRCh38]
Chr14:68193828 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.310A>G (p.Thr104Ala) single nucleotide variant not provided [RCV002030306] Chr14:67692477 [GRCh38]
Chr14:68159194 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) single nucleotide variant Leber congenital amaurosis 13 [RCV001041798]|Leber congenital amaurosis [RCV001277208]|Retinal dystrophy [RCV001075352]|not provided [RCV000293076]|not specified [RCV003155148] Chr14:67733766 [GRCh38]
Chr14:68200483 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|uncertain significance
NM_152443.3(RDH12):c.570C>T (p.Ser190=) single nucleotide variant Leber congenital amaurosis 13 [RCV000951682]|Leber congenital amaurosis [RCV001275433]|Retinal dystrophy [RCV003888728]|Retinitis Pigmentosa, Recessive [RCV000346851]|Retinitis pigmentosa [RCV001109349] Chr14:67727102 [GRCh38]
Chr14:68193819 [GRCh37]
Chr14:14q24.1		 benign|uncertain significance
NM_016026.4(RDH11):c.386G>A (p.Gly129Glu) single nucleotide variant not provided [RCV001319202] Chr14:67691208 [GRCh38]
Chr14:68157925 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.577G>A (p.Glu193Lys) single nucleotide variant not provided [RCV001983841] Chr14:67690299 [GRCh38]
Chr14:68157016 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_020806.5(GPHN):c.389+19T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002166573] Chr14:66880052 [GRCh38]
Chr14:67346770 [GRCh37]
Chr14:14q23.3		 likely benign
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr) single nucleotide variant Leber congenital amaurosis 13 [RCV001578814] Chr14:67724496 [GRCh38]
Chr14:68191213 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.340G>T (p.Ala114Ser) single nucleotide variant Leber congenital amaurosis 13 [RCV002050672] Chr14:67725251 [GRCh38]
Chr14:68191968 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.372G>C (p.Leu124Phe) single nucleotide variant not provided [RCV001345296] Chr14:67691222 [GRCh38]
Chr14:68157939 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.68+208T>G single nucleotide variant not provided [RCV001695098] Chr14:67722918 [GRCh38]
Chr14:68189635 [GRCh37]
Chr14:14q24.1		 benign
NM_152443.3(RDH12):c.343+10T>C single nucleotide variant Leber congenital amaurosis 13 [RCV001500804] Chr14:67725264 [GRCh38]
Chr14:68191981 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.177C>T (p.Leu59=) single nucleotide variant Leber congenital amaurosis 13 [RCV001429151] Chr14:67724581 [GRCh38]
Chr14:68191298 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.237dup (p.Leu80fs) duplication not provided [RCV001941126] Chr14:67692549..67692550 [GRCh38]
Chr14:68159266..68159267 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_016026.4(RDH11):c.50T>C (p.Leu17Pro) single nucleotide variant not provided [RCV002019078] Chr14:67695654 [GRCh38]
Chr14:68162371 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) single nucleotide variant Leber congenital amaurosis 13 [RCV001198281] Chr14:67726084 [GRCh38]
Chr14:68192801 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro) single nucleotide variant Leber congenital amaurosis 13 [RCV001255723] Chr14:67729337 [GRCh38]
Chr14:68196054 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro) single nucleotide variant Leber congenital amaurosis 13 [RCV001255724] Chr14:67733829 [GRCh38]
Chr14:68200546 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) single nucleotide variant Leber congenital amaurosis 13 [RCV001390024] Chr14:67727056 [GRCh38]
Chr14:68193773 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) single nucleotide variant Cone-rod dystrophy [RCV002267742]|Leber congenital amaurosis 13 [RCV000797267]|Leber congenital amaurosis [RCV001277204]|Retinal dystrophy [RCV003889988] Chr14:67727013 [GRCh38]
Chr14:68193730 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.*476C>A single nucleotide variant Retinitis pigmentosa [RCV001112138] Chr14:67734324 [GRCh38]
Chr14:68201041 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.41C>G (p.Pro14Arg) single nucleotide variant not provided [RCV001212316] Chr14:67695663 [GRCh38]
Chr14:68162380 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.621T>C (p.Asn207=) single nucleotide variant Leber congenital amaurosis 13 [RCV001454315]|Leber congenital amaurosis [RCV001832588] Chr14:67727153 [GRCh38]
Chr14:68193870 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) single nucleotide variant Leber congenital amaurosis [RCV001277619]|not specified [RCV004526827] Chr14:67733775 [GRCh38]
Chr14:68200492 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.605A>G (p.Tyr202Cys) single nucleotide variant not provided [RCV002025138] Chr14:67690271 [GRCh38]
Chr14:68156988 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) single nucleotide variant Leber congenital amaurosis 13 [RCV001377219]|Leber congenital amaurosis [RCV001830679]|Retinitis pigmentosa [RCV000787671] Chr14:67725137 [GRCh38]
Chr14:68191854 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_152443.3(RDH12):c.195A>G (p.Arg65=) single nucleotide variant Leber congenital amaurosis 13 [RCV001473846]|not provided [RCV001311359] Chr14:67725106 [GRCh38]
Chr14:68191823 [GRCh37]
Chr14:14q24.1		 likely benign
NM_152443.3(RDH12):c.507G>C (p.Arg169=) single nucleotide variant Leber congenital amaurosis 13 [