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Links from MedGen

Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALOX12B
(A412D)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GUncertain significance
ALOX12B
(K542fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B, LOC130060196
(L269F)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GLikely pathogenic
ALOX12B
(K382E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GUncertain significance
ALOX12B
Deletion
(intron variant)
not provided
+1 more
GBenign
ALOX12B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALOX12B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALOX12B
(R499H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOX12B
(W376R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GUncertain significance
ALOX12B
(S16W)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(A316fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(S23P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B, LOC130060196
(H257fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(S16L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B, LOC130060196
(H257D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALOX12B
(F211fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(A139fs)
Deletion
(frameshift variant)
Lamellar ichthyosis
GLikely pathogenic
ALOX12B, LOC130060196
(V272F)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L298P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B, LOC130060196
(G265R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(D20Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B, LOC130060196
(F264del)
Microsatellite
(inframe_deletion)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R282fs)
Indel
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(K71fs)
Microsatellite
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(T624I)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(M599I)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Y687C)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(K681*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R660fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(G646R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(T610I)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(P100L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(E532K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R499C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALOX12B
(G462D)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(V537M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOX12B
(S457P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(G450E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Y476C)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(D44fs)
Microsatellite
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(H398Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(E407K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(P422L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ALOX12B
(R386H)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(H421Y)
Single nucleotide variant
(missense variant)
Lamellar ichthyosis
GLikely pathogenic
ALOX12B
(W376*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Q360E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(P353T)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(D124V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(K607N)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(D621Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Q671fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(E109*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R565P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Y688*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(H578Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L545R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(V581G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R679H)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R679S)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Q538P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R558fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(E655K)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(H70P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R469W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALOX12B
(R442W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX12B
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L342P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L340fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Deletion
(inframe_deletion)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L404R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(F99L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(intron variant)
not provided
GPathogenic
ALOX12B
(Q667P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(I437F)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L451fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(I66fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Duplication
(splice donor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(T559I)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(P596L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(I313T)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(H158fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(R488H)
Single nucleotide variant
(missense variant)
ALOX12B-related condition
+1 more
GPathogenic
ALOX12B
(R114Q)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(W233*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(C544R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Duplication
(inframe_insertion)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(Q103*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L24P)
Single nucleotide variant
(missense variant)
Lamellar ichthyosis
+1 more
GPathogenic/Likely pathogenic
ALOX12B
(H647fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(L446del)
Microsatellite
(inframe_deletion)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(S698R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(D675fs)
Microsatellite
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
ALOX12B
(V289fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 2
GPathogenic
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