U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IPO8
(L504P +1 more)
Single nucleotide variant
(missense variant)
VISS syndrome
GUncertain significance
IPO8
Single nucleotide variant
(splice donor variant)
VISS syndrome
GPathogenic
IPO8
(Y112C +1 more)
Single nucleotide variant
(missense variant)
VISS syndrome
GUncertain significance
IPO8
(Q440* +1 more)
Single nucleotide variant
(nonsense)
VISS syndrome
GLikely pathogenic
IPO8
(R234* +1 more)
Single nucleotide variant
(nonsense)
VISS syndrome
GLikely pathogenic
IPO8
Deletion
(intron variant)
VISS syndrome
GPathogenic
IPO8
(S505* +1 more)
Single nucleotide variant
(nonsense)
VISS syndrome
GLikely pathogenic
IPO8
(L555fs +1 more)
Deletion
(frameshift variant)
VISS syndrome
+1 more
GPathogenic
IPO8
(R629W +1 more)
Single nucleotide variant
(missense variant)
VISS syndrome
GLikely pathogenic
IPO8
(C544R +1 more)
Single nucleotide variant
(missense variant)
VISS syndrome
GLikely pathogenic
IPO8
(Q28*)
Single nucleotide variant
(nonsense)
VISS syndrome
GPathogenic
IPO8
(R598* +1 more)
Single nucleotide variant
(nonsense)
VISS syndrome
+1 more
GPathogenic/Likely pathogenic
IPO8
(D88N)
Single nucleotide variant
(missense variant)
VISS syndrome
GLikely pathogenic
IPO8
Single nucleotide variant
(splice acceptor variant)
IPO8-related aortopathy
+1 more
GPathogenic/Likely pathogenic
IPO8
(W259* +1 more)
Single nucleotide variant
(nonsense)
IPO8-related aortopathy
GPathogenic
IPO8
(L661fs +1 more)
Deletion
(frameshift variant)
IPO8-related aortopathy
GPathogenic
IPO8
Single nucleotide variant
(intron variant)
IPO8-related aortopathy
GPathogenic
Format
Items per page
Sort by
Choose Destination