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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADNP
(Y172H)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(P739fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(A1017fs)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
ADNP
(K274*)
Insertion
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Gnot provided
ADNP
(N398*)
Duplication
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(I1069V)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(I1069T)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(R264fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(A713V)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(E990S)
Inversion
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(E925K)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(D735del)
Microsatellite
(inframe_deletion)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(H1089R)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(L205V)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(K279fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(S62L)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(M303V)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+1 more
GUncertain significance
ADNP
(T693A)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(E1037A)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(C667F)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(M828fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(S738fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(L370V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADNP
(K777fs)
Microsatellite
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(Y764*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(L732fs)
Indel
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(K148fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(F742del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
ADNP
(V337I)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(Y719fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(K1016del)
Deletion
(inframe_deletion)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(Q697fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(E760*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(K809fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(K32fs)
Insertion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(I221S)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+1 more
GConflicting classifications of pathogenicity
ADNP
(M722fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(N832fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+1 more
GPathogenic
ADNP
(E723fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(W796*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(Y818*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(N108fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(C514G)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(P917A)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(R730Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADNP
Microsatellite
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(G438fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(S1032C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADNP
(Q1020E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
(R246C)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(S854F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADNP
Single nucleotide variant
(3 prime UTR variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GBenign
ADNP
(S300fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(A291G)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(L394V)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(S213L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADNP
(E161K)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(M1019T)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(S955fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ADNP
(S711fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(Q162*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(Q345*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(L349fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(L314fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(S738*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADNP
(Q980*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(N214fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(V237fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(A858T)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(R94C)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(L28fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Gnot provided
ADNP
(R717H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADNP
(A1102T)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
(I22fs)
Duplication
(frameshift variant)
See cases
+2 more
GPathogenic/Likely pathogenic
ADNP
(A858G)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely benign
ADNP
(Q423fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
Single nucleotide variant
(intron variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GUncertain significance
ADNP
Single nucleotide variant
(splice acceptor variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
Deletion
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
Deletion
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic
ADNP
(K773E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ADNP
Single nucleotide variant
(synonymous variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GBenign/Likely benign
ADNP
(P917S)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GBenign/Likely benign
ADNP
(I939L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
(I359V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
(I1062T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
Single nucleotide variant
(synonymous variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+3 more
GBenign/Likely benign
ADNP
(S1071fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely benign
ADNP
(D60fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(E245*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(R646fs)
Microsatellite
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(K279del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
(N259H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADNP
(D928H)
Single nucleotide variant
(missense variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GBenign/Likely benign
ADNP
Single nucleotide variant
(synonymous variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GBenign/Likely benign
ADNP
(K119R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADNP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADNP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ADNP
(M991V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ADNP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
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