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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD5
(E1866L)
Indel
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GLikely pathogenic
CHD5
(M19V)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(R1344C)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
Single nucleotide variant
(intron variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(N1683H)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(N972K)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(K818R)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(E1063K)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GLikely pathogenic
CHD5
(Q1330*)
Single nucleotide variant
(nonsense)
Parenti-mignot neurodevelopmental syndrome
GLikely pathogenic
CHD5
(P1547L)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(R1337H)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(L932R)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GLikely pathogenic
CHD5
(M1576I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CHD5
Single nucleotide variant
(synonymous variant)
Parenti-mignot neurodevelopmental syndrome
GBenign
CHD5
Single nucleotide variant
(synonymous variant)
Parenti-mignot neurodevelopmental syndrome
GBenign
CHD5
Single nucleotide variant
(synonymous variant)
Parenti-mignot neurodevelopmental syndrome
GBenign
CHD5
(S1539P)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GBenign
CHD5
(G1440V)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(Y1524*)
Single nucleotide variant
(nonsense)
Parenti-mignot neurodevelopmental syndrome
GLikely pathogenic
CHD5
(K49T)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(M1L)
Single nucleotide variant
(missense variant +1 more)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(R13W)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(E1664K)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
(A1260V)
Single nucleotide variant
(missense variant)
Parenti-mignot neurodevelopmental syndrome
GUncertain significance
CHD5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CHD5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CHD5
Single nucleotide variant
(splice donor variant)
Global developmental delay
+1 more
GLikely pathogenic
CHD5
(N1140I)
Single nucleotide variant
(missense variant)
Seizure
GLikely pathogenic
CHD5
(E314*)
Single nucleotide variant
(nonsense)
Seizure
GLikely pathogenic
CHD5
(S205fs)
Duplication
(frameshift variant)
Seizure
+1 more
GLikely pathogenic
CHD5
(R193Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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