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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
Single nucleotide variant
(synonymous variant +1 more)
Global developmental delay
+1 more
GLikely benign
RERE
(S1143W +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
PPT1
(V181L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DNMT3A
(C326* +3 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly
+6 more
GPathogenic
SETD5
(F245fs +1 more)
Deletion
(frameshift variant)
Global developmental delay
GPathogenic
QARS1
(D106N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
NDST1
(G611S)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GPathogenic/Likely pathogenic
TONSL, TONSL-AS1
(R524Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CDK5RAP2
(R1328Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
CDK5RAP2
(P45L)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
MAN1B1
(R334C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
TCTN3
(R178H +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(splice acceptor variant)
DHCR7-related condition
+5 more
GPathogenic/Likely pathogenic
GRIA4
(A640T)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GLikely pathogenic
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
SMARCD1
(R165Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CRADD
(R168Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
NBEA
(K774N)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
DYNC1H1
(E4056K)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+15 more
GConflicting classifications of pathogenicity
CREBBP
Deletion
(inframe_deletion)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
ANKRD11
(L2660S)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
TAOK1
(R493C)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
SMARCA4
(T565M)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(D1348N +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+1 more
GUncertain significance
CNOT3
(Y648fs)
Duplication
(frameshift variant)
Global developmental delay
GPathogenic
EEF1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 33
+3 more
GUncertain significance
SIK1
(R385*)
Single nucleotide variant
(nonsense)
Language disorder
+1 more
GLikely pathogenic
KDM6A
(T303I +5 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
+1 more
GConflicting classifications of pathogenicity
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