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Links from MedGen

Items: 1 to 100 of 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FASN
(A418fs)
Microsatellite
(frameshift variant)
Hearing impairment
+7 more
GUncertain significance
CUL9
(P911L)
Single nucleotide variant
(missense variant)
2-3 toe syndactyly
+14 more
GUncertain significance
CUL9
(R2413W)
Single nucleotide variant
(missense variant)
2-3 toe syndactyly
+14 more
GUncertain significance
DHX15
(K443E)
Single nucleotide variant
(missense variant)
Seizure
+7 more
GUncertain significance
TPTEP2-CSNK1E, CSNK1E
(R178C)
Single nucleotide variant
(missense variant)
Intellectual disability, moderate
+11 more
GUncertain significance
SYVN1
(Y23C)
Single nucleotide variant
(missense variant)
Seizure
+8 more
GUncertain significance
SYVN1
(A13V)
Single nucleotide variant
(missense variant)
Seizure
+8 more
GUncertain significance
WNK3
(R1287fs +1 more)
Duplication
(frameshift variant)
Autism
+8 more
GLikely pathogenic
Familial Mediterranean fever
GPathogenic
ZMYM3
(R441Q)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+3 more
GUncertain significance
PDZD4
(K621N +5 more)
Single nucleotide variant
(missense variant)
Hand tremor
+4 more
GUncertain significance
TMEM147
Single nucleotide variant
(intron variant)
Motor delay
+4 more
GPathogenic
PPP1R10
(A432V)
Single nucleotide variant
(missense variant +1 more)
Delayed speech and language development
+3 more
GUncertain significance
KIF5B
(L537P)
Single nucleotide variant
(missense variant)
Seizure
+5 more
GPathogenic
SHANK1
(R717*)
Single nucleotide variant
(nonsense)
Cleft palate
+4 more
GPathogenic
DMAP1
(E342fs)
Deletion
(frameshift variant)
Intellectual disability
+2 more
GLikely pathogenic
HSPG2
(Q3037* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HSPG2
(R3249C +1 more)
Single nucleotide variant
(missense variant)
Abnormal facial shape
GUncertain significance
DMAP1
(W97C)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GUncertain significance
ADCK2, AGBL3
+105 more
Copy number loss
Small face
+7 more
GPathogenic
TAMM41
Single nucleotide variant
(splice donor variant)
Combined oxidative phosphorylation deficiency 56
+5 more
GPathogenic
TAMM41
(S45P +1 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency 56
+5 more
GPathogenic
CYBRD1, DCAF17
+60 more
Copy number loss
3-4 finger syndactyly
+1 more
GPathogenic
BRI3BP, CCDC92
+19 more
Copy number loss
Neurodevelopmental delay
+2 more
GPathogenic
KDM3B
(V1139I)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+1 more
GUncertain significance
GPHN, PALS1
(E396G +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy
+4 more
GPathogenic
DDX23
(I629S)
Single nucleotide variant
(missense variant)
Motor delay
+4 more
GConflicting classifications of pathogenicity
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
RECQL
(A459S)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+1 more
GUncertain significance
MAPK1
(P323R)
Single nucleotide variant
(missense variant)
Specific learning disability
+5 more
GPathogenic
MAPK1
(E322Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
MAPK1
(D318G)
Single nucleotide variant
(missense variant)
Specific learning disability
+5 more
GPathogenic
MAPK1
(D318N)
Single nucleotide variant
(missense variant)
Specific learning disability
+4 more
GPathogenic
MAPK1
(A174V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
MAPK1
(H80Y)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(I74N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MTOR
(H1782R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126863158, EP300
Indel
(splice acceptor variant +1 more)
Abnormal facial shape
+2 more
GPathogenic
MAP1B
(R1790* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GPathogenic
ARG2, RDH11
+3 more
Copy number gain
Hemangioma
+3 more
GUncertain significance
PLCB4
(D642N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO18A
(A978T +3 more)
Single nucleotide variant
(missense variant)
Hydrops fetalis
+2 more
GUncertain significance
TASP1
(T234M +2 more)
Single nucleotide variant
(missense variant +1 more)
Suleiman-El-Hattab syndrome
+3 more
GPathogenic
RET
Deletion
(intron variant)
Megacolon
+1 more
GUncertain significance
CDK8
(S62*)
Single nucleotide variant
(nonsense +1 more)
Heart, malformation of
+6 more
GPathogenic
MYH10
(R1502P +3 more)
Single nucleotide variant
(missense variant)
Wide nose
+6 more
GPathogenic
ADAMTSL2
(D167N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+1 more
GPathogenic
LSM1
Single nucleotide variant
(intron variant)
Complex neurodevelopmental disorder
+19 more
GUncertain significance
SLC25A15
(V130M)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+2 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
(E670*)
Single nucleotide variant
(nonsense)
Abnormal facial shape
+3 more
GLikely pathogenic
POLR3GL
Single nucleotide variant
(splice acceptor variant)
POLR3GL-related condition
GPathogenic
LOC129931343, POLR3GL
Single nucleotide variant
(splice acceptor variant)
Short stature, oligodontia, dysmorphic facies, and motor delay
+4 more
GPathogenic/Likely pathogenic
LOX, SRFBP1
(V254I +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormal facial shape
+4 more
GUncertain significance
ZBTB20
(H652L +1 more)
Single nucleotide variant
(missense variant +1 more)
Clinodactyly of the 5th finger
+4 more
GLikely pathogenic
KCNK4, KCNK4-CATSPERZ
(A244P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Abnormal facial shape
+4 more
GPathogenic
KCNK4, KCNK4-CATSPERZ
(A172E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Abnormal facial shape
+5 more
GPathogenic/Likely pathogenic
TBR1
(Q552fs)
Duplication
(frameshift variant)
Hypoplastic anterior commissure
+9 more
GLikely pathogenic
SLC12A6
(S252fs +4 more)
Duplication
(frameshift variant)
Low-set ears
+5 more
GPathogenic/Likely pathogenic
COL11A1
Deletion
(inframe_deletion +1 more)
Myopia
+7 more
GLikely pathogenic
HUWE1
(R2162P)
Single nucleotide variant
(missense variant)
Ventricular septal defect
+7 more
GUncertain significance
MAP2K2
(K172E)
Single nucleotide variant
(missense variant)
Mitral valve prolapse
+10 more
GUncertain significance
CHD7
(S956*)
Single nucleotide variant
(nonsense +1 more)
Pyloric stenosis
+3 more
GLikely pathogenic
KAT6B
(T1738I +7 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
KAT6B
(R438fs +7 more)
Deletion
(frameshift variant)
Blepharophimosis
+9 more
GLikely pathogenic
SLC6A8
(A403V +2 more)
Single nucleotide variant
(missense variant)
Low-set ears
+3 more
GLikely pathogenic
MYH9
(D1424G)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+10 more
GLikely pathogenic
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
LOC126806462, SATB2
(Q664*)
Single nucleotide variant
(nonsense)
Microcephaly
+6 more
GLikely pathogenic
GRIN2B
(M739R)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+10 more
GLikely pathogenic
LOC126863207, MID1
(N589D +1 more)
Single nucleotide variant
(missense variant)
Low-set ears
+4 more
GUncertain significance
ARID1B, TMEM242
+1 more
Copy number gain
Hypotonia
+7 more
GUncertain significance
ARHGAP4, ATP6AP1
+19 more
Copy number gain
Abnormal facial shape
+3 more
GPathogenic
ABHD11, ABHD11-AS1
+23 more
Copy number loss
Generalized hypotonia
+2 more
GPathogenic
SERPINF2, SGSM2
+25 more
Copy number loss
Lissencephaly
+2 more
GPathogenic
ALKBH5, MIEF2
+20 more
Copy number loss
Brachydactyly
+14 more
GPathogenic
CYFIP1, NIPA1
+2 more
Copy number loss
Numerous pigmented freckles
+9 more
GPathogenic
CSNK2B
(D32N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CDC42
(E171K)
Single nucleotide variant
(missense variant)
Noonan-like syndrome
GPathogenic
CDC42
(A159V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
(S83P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CDC42
(R68Q)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
+1 more
GPathogenic/Likely pathogenic
CDC42
(C81F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDC42
(I21T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CEP290, RLIG1
(K2407fs)
Deletion
(frameshift variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
EBF3
(E94fs)
Deletion
(frameshift variant)
Recurrent urinary tract infections
+7 more
GPathogenic
NIPBL
(G2081A)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GLikely pathogenic
MED12
(G1448R)
Single nucleotide variant
(missense variant)
Microcephaly
+6 more
GLikely pathogenic
SMC1A
(W644R +1 more)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+1 more
GUncertain significance
EHMT1
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic
CHD2
(I317V)
Single nucleotide variant
(missense variant)
CNS hypomyelination
+10 more
GLikely benign
GLI2
(G85A)
Single nucleotide variant
(missense variant +1 more)
CNS hypomyelination
+10 more
GLikely benign
NAGLU
(Y140C)
Single nucleotide variant
(missense variant)
Hypertrichosis
+10 more
GPathogenic/Likely pathogenic
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