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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIRREL2, NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KIRREL2, NPHS1
(L41fs)
Deletion
(frameshift variant)
NPHS1-related disorder
+2 more
GPathogenic
KIRREL2, NPHS1
Single nucleotide variant
(synonymous variant)
Finnish congenital nephrotic syndrome
+1 more
GLikely benign
KIRREL2, NPHS1
(S29F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIRREL2, NPHS1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KIRREL2, NPHS1
(A9T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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