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Links from MedGen

Items: 1 to 100 of 1679

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD2
(S722*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(S543Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(A1024fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(K1379R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(K1204*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
(S608N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
Deletion
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(A879G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(E1260D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(Q1594*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(G200R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(Q172H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(E11G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Duplication
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
Deletion
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
(Y1143C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(S866P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(T645R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(D209fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
(V883del)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(L628fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(R809L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(D211N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(R1748H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(S443T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(E149G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Deletion
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(L79P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GConflicting classifications of pathogenicity
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2, LOC126862230
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GBenign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(R1251H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(N1824S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(P1778S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(L568V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(K1395del)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(G1430V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(G1333S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(G294S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(M1751V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(S1213P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(A1100P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(P1787T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(I822V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(R403Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(R1440Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(R1440*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(H1596R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(H1556R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(Q1404H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(R1440P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(M943V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(S1197G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2, LOC126862230
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Deletion
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 94
GLikely benign
CHD2
(R1763H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
CHD2
(N1195S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GUncertain significance
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