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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD3A
(Y70fs)
Indel
(frameshift variant +1 more)
Harel-Yoon syndrome
+1 more
GLikely pathogenic
ATAD3A, ATAD3B
+4 more
Copy number loss
Harel-Yoon syndrome
+1 more
GLikely pathogenic
ATAD3A
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A
(G468R +3 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(A482F +3 more)
Indel
(missense variant)
Harel-Yoon syndrome
+1 more
GUncertain significance
ATAD3A
(R224Q +3 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+1 more
GBenign
ATAD3A
(W458* +3 more)
Single nucleotide variant
(nonsense)
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(Q379P +3 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(K43R +1 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(P274L +3 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(P52L)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(K104E +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(P232R +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(A137S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
ATAD3A
(R404G +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(N375S +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GPathogenic/Likely pathogenic
ATAD3A
Deletion
(inframe_deletion)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(R449Q +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(I7V)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+1 more
GBenign
CHD5
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(S505F +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(W319* +2 more)
Single nucleotide variant
(nonsense)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(T280M +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+1 more
GUncertain significance
ATAD3A
(L270V +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(R257G +2 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+1 more
GUncertain significance
ATAD3A
(S447W +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+2 more
GUncertain significance
ATAD3A, ATAD3B
+4 more
Deletion
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(K279* +2 more)
Single nucleotide variant
(nonsense)
Harel-Yoon syndrome
+1 more
GUncertain significance
ATAD3A
(R250H +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(R138W +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+3 more
GUncertain significance
ATAD3A
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+1 more
GBenign
ATAD3A
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+1 more
GBenign
ATAD3A
Single nucleotide variant
(3 prime UTR variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+1 more
GBenign
ATAD3A
Single nucleotide variant
(3 prime UTR variant)
Harel-Yoon syndrome
+2 more
GBenign
ATAD3A
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+1 more
GBenign
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
+2 more
GBenign
ATAD3A
Deletion
(splice acceptor variant +1 more)
Harel-Yoon syndrome
GPathogenic
ATAD3A
(V95G +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(E466K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATAD3A
(P417L +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(V168M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATAD3A
(G155R +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(K167E +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+1 more
GUncertain significance
ATAD3A, ATAD3B
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A, ATAD3B
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A, ATAD3B
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A, ATAD3B
+1 more
Deletion
Harel-Yoon syndrome
GPathogenic
ATAD3A
(K489del +2 more)
Microsatellite
(inframe_deletion)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(H393fs +2 more)
Deletion
(frameshift variant)
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(V302fs +2 more)
Duplication
(frameshift variant)
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(R248P +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(G157V +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(R170W +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(F50L)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
Single nucleotide variant
(splice acceptor variant)
Harel-Yoon syndrome
GLikely pathogenic
PUSL1, RER1
+98 more
Copy number loss
Harel-Yoon syndrome
GLikely pathogenic
ATAD3A
(D55N +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
+2 more
GBenign/Likely benign
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
+2 more
GBenign/Likely benign
ATAD3A
Single nucleotide variant
(synonymous variant)
Harel-Yoon syndrome
+2 more
GLikely benign
ATAD3A
Single nucleotide variant
(intron variant)
Harel-Yoon syndrome
+2 more
GLikely benign
ATAD3A
Single nucleotide variant
(synonymous variant)
Harel-Yoon syndrome
+2 more
GLikely benign
ATAD3A
(R123fs)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
GPathogenic
ATAD3A
(R321S +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
GUncertain significance
ATAD3A
(H613Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATAD3A
(L77V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ATAD3A
(T53I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATAD3A
(R528W +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+1 more
GPathogenic/Likely pathogenic
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