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Links from MedGen

Items: 1 to 100 of 509

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(P321L)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(R717C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(G1357fs)
Insertion
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC1H1
(S4210P)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(A1816fs)
Duplication
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(R490C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(G2829fs)
Deletion
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(A2012V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(S3142L)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(N3797fs +1 more)
Duplication
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(W860*)
Indel
(nonsense)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(D2783E)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Deletion
(nonsense)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(V2503F)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(D2147Y)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(R2426C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(G815R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(S2516*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(L1454M)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(S2638T)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(T1389I)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(R3014I)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(Q3552P +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+1 more
GConflicting classifications of pathogenicity
DYNC2H1
(P2598R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(P1063R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(Y346C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(Q1407*)
Single nucleotide variant
(nonsense)
Jeune thoracic dystrophy
+1 more
GPathogenic/Likely pathogenic
DYNC2H1
(R3712H +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
+1 more
GUncertain significance
DYNC1H1
(V2070I)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
+1 more
GConflicting classifications of pathogenicity
DYNC2H1
(S4044A +1 more)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+1 more
GUncertain significance
DYNC2H1
(E2187K)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
+1 more
GUncertain significance
DYNC2H1
(H875R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
+1 more
GUncertain significance
DYNC2H1
(W4154* +1 more)
Single nucleotide variant
(nonsense)
Jeune thoracic dystrophy
+2 more
GPathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(S2128fs)
Duplication
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(N2391S)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(W2155*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(G1786A)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(M2008T)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(W1149*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
Single nucleotide variant
(splice acceptor variant)
Asphyxiating thoracic dystrophy 3
+1 more
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(splice acceptor variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(K1477*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(G3774R +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
(G2658R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYNC2H1
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 3
+1 more
GLikely benign
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
+1 more
GLikely benign
DYNC2H1
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+1 more
GLikely benign
DYNC2H1
(Y2770*)
Single nucleotide variant
(nonsense)
Jeune thoracic dystrophy
+1 more
GPathogenic/Likely pathogenic
DYNC2H1
(G808S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+1 more
GUncertain significance
DYNC2H1
(Y3213C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(R167*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
+1 more
GPathogenic/Likely pathogenic
DYNC2H1
(Q4080* +1 more)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
+1 more
GBenign/Likely benign
DYNC2H1
(L3017P)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(Q619R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(Q1365*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(I1977T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYNC2H1
(R3105*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
+1 more
GBenign
DYNC2H1
(E1111K)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
+1 more
GBenign
DYNC2H1
Insertion
(intron variant)
not provided
+2 more
GBenign
DYNC2H1
(R82*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
KIF24
(N522S)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(I3828R +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(F42L)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Deletion
(intron variant)
not provided
+2 more
GBenign
DYNC2H1
(L324F)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
+1 more
GUncertain significance
DYNC2H1
(F21V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(R1726*)
Single nucleotide variant
(nonsense)
Jeune thoracic dystrophy
+2 more
GPathogenic
DYNC2H1
(C1411R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(D992N)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+2 more
GUncertain significance
DYNC2H1
(W179*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(C291F)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(E3744V +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Single nucleotide variant
(splice acceptor variant)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(Q3273*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 3
GPathogenic
DYNC2H1
(T2234S)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(T2740A)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+1 more
GLikely benign
DYNC2H1
Deletion
(intron variant)
Jeune thoracic dystrophy
+1 more
GLikely benign
DYNC2H1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DYNC2H1
(L159S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+1 more
GConflicting classifications of pathogenicity
DYNC2H1
(R3004H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC2H1
(C907R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
+1 more
GLikely benign
DYNC2H1
(R490H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DYNC2H1
(S106N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC2H1
(R185H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC2H1
(L2468V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(D1249V)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+1 more
GUncertain significance
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