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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA12
(W951S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(M1317V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
(P1480L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA12
(N1509S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GUncertain significance
ABCA12, SNHG31
(E2050K +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GUncertain significance
ABCA12, SNHG31
(P2104L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(A51E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ABCA12
(R94H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(D505V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ABCA12
(Q204P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(I1070M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ABCA12
(T1097P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(R1417Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(R1950Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
(D272A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(T417I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(T1133S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12
(G1554R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(R1636Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
(G2155S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GBenign/Likely benign
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12
(P477L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(G1648R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(M1356V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(D1378N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(A1476V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
SNHG31, ABCA12
(Q1844K +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
(R2204Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SNHG31, ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
(N2223S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
(E1917A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
SNHG31, ABCA12
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
SNHG31, ABCA12
(I2307V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+2 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+2 more
GBenign/Likely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
(D2232G +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ABCA12
(S325F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ABCA12, SNHG31
(T2544I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
(V2070I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital ichthyosis of skin
+1 more
GBenign/Likely benign
SDR9C7
(E119K)
Single nucleotide variant
(missense variant)
Congenital ichthyosis of skin
GLikely pathogenic
SDR9C7
(G38R)
Single nucleotide variant
(missense variant)
Ichthyosis, congenital, autosomal recessive 13
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(splice donor variant)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(T345P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
(E1927fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(S408P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+2 more
GBenign/Likely benign
ABCA12
(M1161L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+2 more
GBenign/Likely benign
SDR9C7
(R220*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
ABCA12
(V381L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+2 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GBenign
ABCA12
(W199C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital ichthyosis of skin
+1 more
GBenign
ABCA12
(N237H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital ichthyosis of skin
+1 more
GBenign
ABCA12
(S278L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(L294V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(A389V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
(S392P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(L396V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+2 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12
(L474F +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12
(A476V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+1 more
GBenign
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
Congenital ichthyosis of skin
+2 more
GConflicting classifications of pathogenicity
ABCA12
(D505E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12
(V542A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ABCA12
(D581E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
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