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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPAL4
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NIPAL4
(D287H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(A353S +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GLikely benign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(G160V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GLikely benign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(V147M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129995124, NIPAL4
(R39Q)
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(A396T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC129995124, NIPAL4
Single nucleotide variant
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4, NIPAL4-DT
Single nucleotide variant
(non-coding transcript variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4, NIPAL4-DT
Single nucleotide variant
(non-coding transcript variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(N423fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(S338R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(N313K +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(G297R +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
NIPAL4
(G282R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(P279L +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(H218fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(H237D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPAL4
(T232R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(S208F +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
Deletion
(intron variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(Y185* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(E178D +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(G157E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 6
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(G142V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(V136D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(L95fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
LOC129995124, NIPAL4
(M1T)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(I217fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(Y361* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(G230R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GLikely benign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GLikely benign
NIPAL4
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(V369I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(T353I +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(H323Q +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(R280H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
+1 more
GUncertain significance
NIPAL4
Single nucleotide variant
(intron variant)
NIPAL4-related condition
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(V244F +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
+1 more
GLikely benign
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(M166T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPAL4
(A151T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(T149M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 6
+2 more
GConflicting classifications of pathogenicity
NIPAL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4
(V99A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LOC129995124, NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
+1 more
GBenign/Likely benign
LOC129995124, NIPAL4
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 6
GUncertain significance
NIPAL4, NIPAL4-DT
Single nucleotide variant
(non-coding transcript variant)
Autosomal recessive congenital ichthyosis 6
GLikely benign
NIPAL4
(R213G +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NIPAL4
(S453L +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NIPAL4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LOC129995124, NIPAL4
Single nucleotide variant
not provided
+2 more
GBenign
NIPAL4
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(A176D +3 more)
Single nucleotide variant
(missense variant)
Lamellar ichthyosis
+2 more
GPathogenic
NIPAL4
Single nucleotide variant
Autosomal recessive congenital ichthyosis 6
GPathogenic
NIPAL4
(R145*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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