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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PORCN
(Y277* +4 more)
Duplication
(nonsense)
Focal dermal hypoplasia
GPathogenic
PORCN
Single nucleotide variant
(splice donor variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(H327Y +4 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GUncertain significance
PORCN
Single nucleotide variant
(splice acceptor variant)
Focal dermal hypoplasia
GPathogenic
PORCN
(G168R +1 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GPathogenic
PORCN
Single nucleotide variant
(splice donor variant)
Focal dermal hypoplasia
GUncertain significance
PORCN
Insertion
(inframe_insertion)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
Single nucleotide variant
(intron variant +1 more)
Focal dermal hypoplasia
GPathogenic
PORCN
(M114R +1 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(R232* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
PORCN
(R314* +4 more)
Single nucleotide variant
(nonsense)
Focal dermal hypoplasia
+1 more
GPathogenic/Likely pathogenic
PORCN
Microsatellite
(splice donor variant)
Focal dermal hypoplasia
+1 more
GPathogenic
PORCN
Single nucleotide variant
(splice acceptor variant)
Focal dermal hypoplasia
GPathogenic
PORCN
(L179P +4 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(L240V +4 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GUncertain significance
PORCN
(C17fs)
Deletion
(5 prime UTR variant +1 more)
Focal dermal hypoplasia
GPathogenic
PORCN
(Y252C +4 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(R283Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PORCN
(P213L +4 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
Single nucleotide variant
(splice donor variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(R95* +1 more)
Single nucleotide variant
(nonsense)
Focal dermal hypoplasia
GPathogenic
PORCN
(Q28*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Focal dermal hypoplasia
GPathogenic
PORCN
(C371fs +4 more)
Deletion
(frameshift variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(T274fs +4 more)
Indel
(frameshift variant)
Focal dermal hypoplasia
GUncertain significance
PORCN
Single nucleotide variant
(splice donor variant)
Focal dermal hypoplasia
GPathogenic
PORCN
(W189R +1 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
PORCN
(R90* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
PORCN
(W74* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PORCN
(R124* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PORCN
(G60R)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PORCN
(T347fs +4 more)
Duplication
(frameshift variant)
Focal dermal hypoplasia
GPathogenic
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