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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
(R227H +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis
GPathogenic
DYNC1H1
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
VPS13D
(D1415N)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+3 more
GConflicting classifications of pathogenicity
VPS13D
(G173D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DYNC1H1
(V3453I)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
SPAG16
Single nucleotide variant
(stop lost +1 more)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
SPAG16
(Y475fs)
Deletion
(frameshift variant +1 more)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
BLTP1
(Y3964H +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
BLTP1
(R1309Q)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
NAGA
(N306I)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
MAGI3
(Q855H)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
DQX1
(R257W)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
GFRA4
(A82P)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
ZNF875
(R390fs +10 more)
Deletion
(frameshift variant +1 more)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
AVEN, RYR3
(D4600G +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
IQSEC3, IQSEC3-AS1
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
LOC574538, IQSEC3
(L353P +1 more)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
GCN1
(A1194E)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
ZEB2
(F148L +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
ALDH5A1
(C272fs +1 more)
Deletion
(frameshift variant +1 more)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
SCN8A
(I240T)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+2 more
GLikely pathogenic
PRICKLE1
(Y561F)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
PRG4
(G1190D +4 more)
Single nucleotide variant
(missense variant)
PRG4-related condition
+2 more
GConflicting classifications of pathogenicity
FBLN1
(R664Q)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
EARS2
Duplication
(inframe_insertion +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EARS2
(A272T)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GLikely pathogenic
ATP2B3
(S66L)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
ASPM
(Q955*)
Single nucleotide variant
(nonsense)
Microcephaly 5, primary, autosomal recessive
+3 more
GPathogenic
ASAH1
(G158V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASAH1
(D46N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADSS1
(K291fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
UNC50
(T96S +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GUncertain significance
SCN4A
(L673P)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
RYR1
(L2433P)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+3 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
RYR1
(A612D)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
RYR1
(V3340M)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
RYR1
(E1873fs)
Deletion
(frameshift variant)
Arthrogryposis multiplex congenita
+1 more
GPathogenic
RYR1
(T2675K)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GLikely pathogenic
RYR1
(P836fs)
Duplication
(frameshift variant)
Fetal akinesia deformation sequence 1
+1 more
GPathogenic
RYR1
Deletion
(splice acceptor variant)
Arthrogryposis multiplex congenita
+1 more
GPathogenic
RYR1
(G723R)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
RAPSN
(A265V)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
PIEZO2
(Y304C)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 more
GConflicting classifications of pathogenicity
NALCN
(Y64C)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
NALCN
(V566F +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
NALCN
(F317C)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
LGI4
(L344Q)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
LGI4
(W168C)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
GLDN
(R269K +1 more)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
CNTNAP1
(V636M)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
CNTNAP1, LOC125177481
(Y23*)
Single nucleotide variant
(nonsense)
Arthrogryposis multiplex congenita
+1 more
GPathogenic
CHRND
(C50S +3 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
+1 more
GLikely pathogenic
CHRNG
(I237K)
Indel
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GLikely pathogenic
ACTA1
(G247R)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GPathogenic
FZD3
(D539fs)
Duplication
(frameshift variant)
Corpus callosum, agenesis of
+4 more
GLikely pathogenic
PIEZO2
(R462*)
Single nucleotide variant
(nonsense)
Fetal akinesia deformation sequence 1
+1 more
GPathogenic
ASCC1
Single nucleotide variant
(splice donor variant)
Spinal muscular atrophy with congenital bone fractures 2
+3 more
GPathogenic/Likely pathogenic
ROR2
(G559S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ROR2
(I270V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAPSN
(R91L)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+4 more
GConflicting classifications of pathogenicity
GLDN
(F476L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
GBE1
(R565W)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+6 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(splice donor variant)
Microcephaly 5, primary, autosomal recessive
+3 more
GPathogenic/Likely pathogenic
SCN5A
(S1737F +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GConflicting classifications of pathogenicity
RYR1
(R1469W)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+7 more
GConflicting classifications of pathogenicity
RYR1
(C3193W)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GConflicting classifications of pathogenicity
PIEZO2
(R2686H +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
SETBP1
(I871T)
Single nucleotide variant
(missense variant)
SETBP1-related disorder
+5 more
GConflicting classifications of pathogenicity
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