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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCLT1
(S348fs)
Deletion
(frameshift variant)
Astigmatism
+5 more
GPathogenic
SCLT1
(N687fs)
Duplication
(frameshift variant)
Astigmatism
+5 more
GLikely pathogenic
BFSP2
(W150*)
Single nucleotide variant
(nonsense)
Intellectual disability
+6 more
GPathogenic
MKS1
(C492W +3 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
LINC01893, LOC126862798
+279 more
Deletion
Pulmonary valve stenosis
+10 more
GPathogenic
KARS1
(Q114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Microcephaly
+3 more
GLikely pathogenic
LOC125371495, NDUFA13
(L36P)
Single nucleotide variant
(missense variant)
Leigh syndrome
+5 more
GPathogenic
NDUFA13
(F65fs)
Deletion
(frameshift variant)
Leigh syndrome
+5 more
GPathogenic
MIP
(H172fs)
Deletion
(frameshift variant)
Microcornea
+3 more
GUncertain significance
RPE65
(Q362*)
Single nucleotide variant
(nonsense)
Rod-cone dystrophy
+4 more
GPathogenic
INPP4A
(S118fs)
Microsatellite
(frameshift variant)
Pectus excavatum
+4 more
GLikely pathogenic
HARS1
Deletion
Spastic ataxia
+9 more
GPathogenic
HARS1
(D132Y +6 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
+9 more
GPathogenic
C14orf39, SIX6
(D183H)
Single nucleotide variant
(missense variant)
Nystagmus
+3 more
GPathogenic
BCORL1
(T178A)
Single nucleotide variant
(missense variant)
Proximal placement of thumb
+22 more
GUncertain significance
TBC1D24
(N307S)
Single nucleotide variant
(missense variant)
TBC1D24-related disorder
+9 more
GConflicting classifications of pathogenicity
OTX2
(L64fs +1 more)
Indel
(frameshift variant)
Nystagmus
+8 more
GLikely pathogenic
TMEM67
Duplication
(inframe_insertion +1 more)
Nystagmus
+3 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Polydactyly
+2 more
GPathogenic
CASK
Indel
(splice donor variant)
Hypertonia
+4 more
GLikely pathogenic
TFAP2A
(K340fs +2 more)
Deletion
(frameshift variant)
Hypertelorism
+13 more
GPathogenic
RHO
(S297R)
Single nucleotide variant
(missense variant)
not provided
+12 more
GPathogenic
RAP1GAP2, CLUH
+2 more
Copy number loss
Global developmental delay
+6 more
GPathogenic
TMEM67
(R172* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+11 more
GPathogenic/Likely pathogenic
Cone-rod dystrophy
GPathogenic
OPHN1
(L249P)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+5 more
GLikely pathogenic
KIF7
(Y145S)
Single nucleotide variant
(missense variant)
Male infertility due to gonadal dysgenesis or sperm disorder
+8 more
GConflicting classifications of pathogenicity
GUCY2D
(G439R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+5 more
GConflicting classifications of pathogenicity
CNGB3
Deletion
(frameshift variant)
Achromatopsia 3
+5 more
GPathogenic
GALC
(G284S +2 more)
Single nucleotide variant
(missense variant)
Developmental regression
+20 more
GPathogenic/Likely pathogenic
GALC
(A66T +1 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+19 more
GLikely pathogenic
NDP, NDP-AS1
(A105V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nystagmus
+3 more
GLikely pathogenic
CEP290
(Q981*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+5 more
GPathogenic/Likely pathogenic
COL18A1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
SLC19A1, COL18A1
(R1327* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
(L6fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
SGSH
Deletion
(nonsense +2 more)
Mucopolysaccharidosis, MPS-III-A
+1 more
GPathogenic
GUCY2D
Deletion
(inframe_deletion)
not specified
+7 more
GConflicting classifications of pathogenicity
Translocation
Epicanthus
+28 more
GUncertain significance
Translocation
Mild conductive hearing impairment
+12 more
GUncertain significance
Translocation
Nystagmus
+7 more
GUncertain significance
CASK
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
RUBCN
(E107K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUBCN
(T503A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
(S1400R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar cortical atrophy
+4 more
GPathogenic
GNB1
(L95P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TMEM67
(R360C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+23 more
GConflicting classifications of pathogenicity
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodevelopmental delay
+7 more
GPathogenic/Likely pathogenic
COQ8A
(S582fs)
Duplication
(frameshift variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
SETX
(D1742fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TYR
Single nucleotide variant
(intron variant)
See cases
+10 more
GPathogenic/Likely pathogenic
KCNV2
(G461R)
Single nucleotide variant
(missense variant)
KCNV2-related disorder
+5 more
GPathogenic/Likely pathogenic
NMNAT1
(E257K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SGSH
(S298P)
Single nucleotide variant
(missense variant +1 more)
Sanfilippo syndrome
+2 more
GPathogenic
TYR
(M1V)
Single nucleotide variant
(missense variant +1 more)
Myopia
+18 more
GPathogenic/Likely pathogenic
ELP4, PAX6
(K387* +4 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Aniridia 1
+8 more
GConflicting classifications of pathogenicity
MKS1
(C492W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypotonia
+9 more
GConflicting classifications of pathogenicity
TMEM67
(C615R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 11
+26 more
GPathogenic/Likely pathogenic
CEP290
(K1575*)
Single nucleotide variant
(nonsense)
CEP290-related ciliopathy
+13 more
GPathogenic
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