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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTNG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NTNG2
(R45H)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
NTNG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NTNG2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NTNG2
Single nucleotide variant
(intron variant)
not provided
GBenign
NTNG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN2, IER5L
+147 more
Duplication
not provided
GUncertain significance
ABL1, AIF1L
+62 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
ABCA2, ABL1
+187 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
ABL1, AIF1L
+45 more
Duplication
not provided
GUncertain significance
AIF1L, AK8
+21 more
Duplication
not provided
GUncertain significance
ABO, ADAMTS13
+55 more
Duplication
Ehlers-Danlos syndrome, classic type
GUncertain significance
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