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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HDAC4
(Y201C)
Single nucleotide variant
(missense variant)
Chromosome 2q37 deletion syndrome
Gnot provided
ACKR3, AGAP1
+59 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ACKR3, AGAP1
+94 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
Duplication
Chromosome 2q37 deletion syndrome
GPathogenic
GPC1-AS1, GPR35
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
HDAC4
(P583L +1 more)
Single nucleotide variant
(missense variant)
Chromosome 2q37 deletion syndrome
+2 more
GUncertain significance
HDAC4
(Q458* +1 more)
Single nucleotide variant
(nonsense)
Chromosome 2q37 deletion syndrome
+1 more
GUncertain significance
KCNJ13, NGEF
+97 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
HDAC4
Deletion
(intron variant)
not provided
+1 more
GBenign
HDAC4
Single nucleotide variant
(synonymous variant)
Chromosome 2q37 deletion syndrome
+2 more
GBenign/Likely benign
HDAC4
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
AGXT, ANKMY1
+44 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+49 more
Copy number loss
Chromosome 2q37 deletion syndrome
GLikely pathogenic
ACKR3, AGAP1
+57 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
HDAC4
(P545L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
+2 more
GUncertain significance
HDAC4
(R52H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
GUncertain significance
HDAC4
Single nucleotide variant
(intron variant)
Chromosome 2q37 deletion syndrome
+2 more
GLikely benign
HDAC4
(P248L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
HDAC4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HDAC4
(A786T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
HDAC4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HDAC4
Deletion
(intron variant)
Chromosome 2q37 deletion syndrome
GUncertain significance
HDAC4
(G801fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
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