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Links from MedGen

Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD8
(Q131* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(Q38* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
Duplication
(inframe insertion)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(I608V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8, SNORD8
+1 more
(R1551C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHD8
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(L1175fs +1 more)
Insertion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(D1278fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(R1765* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8, METTL3
+5 more
Copy number loss
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(R533Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(C1208F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(L1055fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R1150W +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(K199T)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(M2150I +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8
(D1667A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R303Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(K423R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD8
(T1126M +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(M1686K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD8
(S1900del +1 more)
Deletion
(inframe_deletion)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(S358N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(G1856R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(P476S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(P213S)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(Q21P +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(Y1762C +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(S1480C +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R1394* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(P368fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(Y306fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(S2296F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(L1747P +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(L1100P +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(R1160H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(L2232F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(P1922S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(H455fs +1 more)
Microsatellite
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(V325A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8, LOC126861888
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GConflicting classifications of pathogenicity
CHD8
(E1741D +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
Indel
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(W1897* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(E1264fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(P1636fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(Y1168N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(E410*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(E1201D +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(P1722fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(V365A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(H160Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GConflicting classifications of pathogenicity
CHD8, LOC126861888
(K2008del +1 more)
Microsatellite
(inframe_deletion)
not specified
+3 more
GUncertain significance
CHD8
(K2094E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHD8
(Q365E +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+2 more
GConflicting classifications of pathogenicity
CHD8
(E1111Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
Single nucleotide variant
(synonymous variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R212Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(P105L)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(M605V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R214Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD8
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(W1346* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(Q719R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD8
(R172G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CHD8
(R1603fs +1 more)
Microsatellite
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(S1815del +1 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
CHD8
(R1123* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
+2 more
GPathogenic/Likely pathogenic
CHD8
(A1691G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD8
(R1242Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(N2092fs +1 more)
Duplication
(frameshift variant)
CHD8-related disorder
+1 more
GPathogenic/Likely pathogenic
CHD8
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(R1252H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8
(R1582* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CHD8
(R2081H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(R1383* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
+3 more
GPathogenic
CHD8
(V138L)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
CHD8
(W2086* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(L1887F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(S1247fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(R1555* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic
CHD8
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
Copy number loss
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(W1624* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CHD8
(G1917S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(P348R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
GUncertain significance
CHD8
(G137D)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8
(V344M +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autism and macrocephaly
+1 more
GUncertain significance
CHD8
(R1188* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CHD8
(Y895* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
Deletion
(splice donor variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
(R212*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
CHD8
(R2244* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autism and macrocephaly
GPathogenic
CHD8
(L2114F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
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