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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Clinodactyly
+16 more
GPathogenic/Likely pathogenic
WNT10A
(R348C)
Single nucleotide variant
(missense variant)
Abnormality of the dentition
GUncertain significance
WNT10A
(R293C)
Single nucleotide variant
(missense variant)
Abnormality of the dentition
GUncertain significance
SCUBE3
(R928* +1 more)
Single nucleotide variant
(nonsense)
Short stature
+3 more
GPathogenic
SCUBE3
Single nucleotide variant
(splice donor variant)
Abnormal facial shape
+3 more
GPathogenic
SCUBE3
(I814T +1 more)
Single nucleotide variant
(missense variant)
Short stature
+4 more
GPathogenic/Likely pathogenic
LOC126859661, SCUBE3
Single nucleotide variant
(splice donor variant)
Abnormal facial shape
+3 more
GPathogenic
SCUBE3
(R572* +1 more)
Single nucleotide variant
(nonsense)
Short stature
+3 more
GPathogenic
SCUBE3, LOC123620094
Deletion
(splice acceptor variant +1 more)
Short stature
+3 more
GPathogenic
SCUBE3
(G203D +1 more)
Single nucleotide variant
(missense variant)
Short stature
+3 more
GPathogenic
SCUBE3
(C97W)
Single nucleotide variant
(missense variant)
Short stature
+3 more
GPathogenic
FLNA
(R1312C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
COL17A1
(E1382fs)
Microsatellite
(frameshift variant)
See cases
+16 more
GPathogenic
PRMT7
(E108* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+17 more
GPathogenic/Likely pathogenic
PRMT7
(C571* +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Skeletal dysplasia
+14 more
GPathogenic
SATB2
(R552fs)
Microsatellite
(frameshift variant)
Global developmental delay
+6 more
GPathogenic
Familial Mediterranean fever
GLikely pathogenic
ADNP
(R730*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Inversion
Macroorchidism
+14 more
GUncertain significance
Translocation
High myopia
+14 more
GPathogenic
EDA
(R357W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL7A1
(R2069C)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+22 more
GPathogenic/Likely pathogenic
COL7A1
(R236*)
Single nucleotide variant
(nonsense)
not provided
+15 more
GPathogenic
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute febrile neutrophilic dermatosis
+9 more
GConflicting classifications of pathogenicity
MFN2
(R94W)
Single nucleotide variant
(missense variant)
not provided
+19 more
GPathogenic
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