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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129995124, NIPAL4
Single nucleotide variant
not specified
+2 more
GBenign
NIPAL4
(V99A +1 more)
Single nucleotide variant
(missense variant)
NIPAL4-related disorder
+2 more
GBenign/Likely benign
NIPAL4
(T149M +1 more)
Single nucleotide variant
(missense variant)
NIPAL4-related disorder
+2 more
GConflicting classifications of pathogenicity
NIPAL4
(R213G +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NIPAL4
Single nucleotide variant
(intron variant)
NIPAL4-related disorder
+1 more
GConflicting classifications of pathogenicity
NIPAL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NIPAL4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NIPAL4
(S453L +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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