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Links from MedGen

Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPLA1
(P163T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(P163L +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PNPLA1
(R151* +2 more)
Single nucleotide variant
(nonsense)
Lamellar ichthyosis
GLikely pathogenic
PNPLA1
(S402P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GUncertain significance
PNPLA1
(A60T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(A34P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(R166C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GBenign
PNPLA1
(A31V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive congenital ichthyosis 10
+1 more
GConflicting classifications of pathogenicity
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GBenign
PNPLA1
(E196G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely benign
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(V394I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(P447S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(L348R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(T33K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GBenign/Likely benign
PNPLA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PNPLA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PNPLA1
(A362V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GConflicting classifications of pathogenicity
PNPLA1
(S53W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PNPLA1
(K46E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GPathogenic
PNPLA1
(A434fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PNPLA1
(Y150del +2 more)
Microsatellite
(inframe_deletion)
Autosomal recessive congenital ichthyosis 10
GPathogenic
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GConflicting classifications of pathogenicity
PNPLA1
(R151P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(P110L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(A50E)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(S19W)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(A34T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
+1 more
GPathogenic
PNPLA1
(D34E +1 more)
Single nucleotide variant
(missense variant)
Ichthyosis
+1 more
GPathogenic
PNPLA1
(C121R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PNPLA1
(T33M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+2 more
GConflicting classifications of pathogenicity
PNPLA1
(T125N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(Y393* +2 more)
Single nucleotide variant
(nonsense)
not specified
+2 more
GBenign/Likely benign
PNPLA1
(P89L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(S112Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GPathogenic/Likely pathogenic
PNPLA1
(T117M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
(S140P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PNPLA1
(R274fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 10
GLikely pathogenic
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GBenign
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely benign
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GBenign
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GBenign
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GLikely benign
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 10
GBenign
PNPLA1
(K431N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PNPLA1
(A379T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNPLA1
(L294P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(S329P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PNPLA1
(D224N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GUncertain significance
PNPLA1
(G223E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GUncertain significance
PNPLA1
(K312E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(L202F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
(E193G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GConflicting classifications of pathogenicity
PNPLA1
(E249K +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
PNPLA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PNPLA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PNPLA1
(A231T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 10
+1 more
GBenign/Likely benign
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 10
GUncertain significance
PNPLA1
Single nucleotide variant
(synonymous variant)
PNPLA1-related disorder
+2 more
GConflicting classifications of pathogenicity
PNPLA1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PNPLA1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PNPLA1
(S427P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PNPLA1
(T395M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PNPLA1
(P328H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KCNQ2
(A306V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 10
+5 more
GPathogenic
PNPLA1
(A59V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 10
GPathogenic
PNPLA1
(E131* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 10
GPathogenic
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