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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA12
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SNHG31, ABCA12
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 4A
GLikely pathogenic
ABCA12
(S1350fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GLikely pathogenic
ABCA12
(Y56C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GUncertain significance
ABCA12
(K1066R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GLikely pathogenic
ABCA12, SNHG31
(G1837C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GLikely pathogenic
ABCA12
Deletion
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 4A
GPathogenic
ABCA12
(S1212T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
+1 more
GUncertain significance
ABCA12
(W32R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GUncertain significance
ABCA12
(R1154H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCA12
(L1139P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GUncertain significance
ABCA12
(R1196C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
+1 more
GConflicting classifications of pathogenicity
ABCA12
(G1241V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GUncertain significance
ABCA12, SNHG31
(Y1784F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCA12
(W1294* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4B
+1 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4B
+1 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4A
+2 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4B
+2 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4A
+1 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4A
+1 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4A
+2 more
GBenign
ABCA12
(E568fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Abnormality of the skin
GLikely pathogenic
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GUncertain significance
ABCA12, SNHG31
(Y2254C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ABCA12
(P1480L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
(L2558P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12
(W199*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive congenital ichthyosis 4A
+1 more
GPathogenic/Likely pathogenic
ABCA12
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ABCA12
(R44W)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
+2 more
GLikely pathogenic
ABCA12
(N678S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GBenign
ABCA12
(R287*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SNHG31, ABCA12
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+4 more
GBenign
ABCA12
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+4 more
GBenign
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+4 more
GBenign
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+4 more
GBenign
ABCA12
(S777T +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+4 more
GBenign
ABCA12
(P589T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
ABCA12, SNHG31
(R1886* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lamellar ichthyosis
+3 more
GPathogenic
ABCA12, SNHG31
(D2047N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
ABCA12
(E1539K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GPathogenic
ABCA12
(R1514H +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCA12-related disorder
GLikely pathogenic
ABCA12
(G1651S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
(N1380S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
+2 more
GPathogenic/Likely pathogenic
ABCA12
(G1381E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive congenital ichthyosis 4A
GPathogenic
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