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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXH1
(P35R)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
FOXH1
(F69L)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
FOXH1
(F69S)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
FOXH1
(F70S)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
FOXH1
(K78E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXH1
(K93E)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
FOXH1
(E165Q)
Single nucleotide variant
(missense variant)
Conotruncal defect
GLikely pathogenic
SUPT16H
Single nucleotide variant
(splice acceptor variant)
Dextrocardia
+1 more
GUncertain significance
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