U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1
Single nucleotide variant
(synonymous variant +1 more)
ATAD1-related disorder
+2 more
GBenign/Likely benign
ATAD1
(H137L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
ATAD1
(I41V)
Single nucleotide variant
(missense variant +2 more)
Hyperekplexia 4
+2 more
GUncertain significance
ATAD1
(Q54H)
Single nucleotide variant
(missense variant +2 more)
Hyperekplexia 4
GUncertain significance
ATAD1
(H238fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ATAD1
(E276* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hyperekplexia 4
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination