U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP4F22
(F334S)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(L520P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GLikely pathogenic
CYP4F22
(W99*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GBenign
CYP4F22
Deletion
(intron variant)
not provided
+1 more
GBenign
CYP4F22
(R157H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP4F22
(K393del)
Deletion
(inframe_deletion)
Autosomal recessive congenital ichthyosis 5
GLikely pathogenic
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R262W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(Y250H)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(M199V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(A162G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R154W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GConflicting classifications of pathogenicity
CYP4F22
(P117L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(F30S)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R262Q)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GLikely benign
CYP4F22
(S196C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CYP4F22
(A259G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP4F22
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GBenign/Likely benign
CYP4F22
Indel
(intron variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(L498R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R407C)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GLikely pathogenic
CYP4F22
(E79G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GLikely pathogenic
CYP4F22
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GUncertain significance
CYP4F22
Deletion
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R362Q)
Single nucleotide variant
(missense variant)
Lamellar ichthyosis
GLikely pathogenic
CYP4F22
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(A238T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
CYP4F22
(R282W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(L144fs)
Duplication
(frameshift variant)
Lamellar ichthyosis
GLikely pathogenic
CYP4F22
(W521*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R156C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP4F22
(R243C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CYP4F22
(R372W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GLikely pathogenic
CYP4F22
(E328fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(F59L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP4F22
(R362G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Deletion
(intron variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(D304E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(T388K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(I233L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R156H)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CYP4F22
(R451P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(V241fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CYP4F22
(E511G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(F496L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R451C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CYP4F22
(I306T)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R283W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(V215fs)
Microsatellite
(frameshift variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(D198Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
Indel
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(G81D)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(R7H)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
+2 more
GConflicting classifications of pathogenicity
CYP4F22
(C475Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP4F22
(P105L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CYP4F22
(P355L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CYP4F22
(R326*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CYP4F22
(R362*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GBenign
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GLikely benign
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GBenign
CYP4F22, LOC130063829
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GBenign
CYP4F22
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 5
GLikely benign
CYP4F22
(E517D)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(K505Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP4F22
(D330V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
Deletion
(intron variant)
Autosomal recessive congenital ichthyosis 5
+2 more
GBenign
CYP4F22
(E292K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GUncertain significance
CYP4F22
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 5
+2 more
GConflicting classifications of pathogenicity
CYP4F22
(Q288K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R284W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
GUncertain significance
CYP4F22
(R246C)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 5
+1 more
GConflicting classifications of pathogenicity
CYP4F22
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination