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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA12
(R1461fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GLikely pathogenic
ABCA12
(R1642* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive congenital ichthyosis 4B
GLikely pathogenic
ABCA12
(K1364fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12
(R1154H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12
(A901V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
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, SNHG31
(Y2254C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ABCA12
(S141T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ABCA12
(P1480L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA12
(L322fs +1 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GLikely pathogenic
ABCA12, SNHG31
(R2426W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ABCA12, SNHG31
(P2416L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12
(L1149P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GLikely pathogenic
ABCA12
(D895N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12, SNHG31
(L2558P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12, SNHG31
(R2426Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ABCA12
(I1915fs +1 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12, SNHG31
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 4B
GLikely pathogenic
ABCA12, SNHG31
(R2482* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lamellar ichthyosis
+2 more
GPathogenic
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
(S1850P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+3 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GBenign
ABCA12
(R1297* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
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
Deletion
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12
(G1179R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
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
(N1353fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GPathogenic
ABCA12, SNHG31
(V2124fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
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
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