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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRHL3
(N416S +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
(L466F +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GLikely benign
GRHL3, GRHL3-AS1
Single nucleotide variant
(intron variant +1 more)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(P220L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
CFAP57
(G59V)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(5 prime UTR variant +1 more)
Van der Woude syndrome 2
GLikely benign
GRHL3
Deletion
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
(M413T +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3, STPG1
(R576C)
Single nucleotide variant
(missense variant +1 more)
Van der Woude syndrome 2
GUncertain significance
GRHL3, STPG1
(R573H)
Single nucleotide variant
(intron variant +1 more)
Van der Woude syndrome 2
GBenign
GRHL3
(R218W +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
+1 more
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GLikely pathogenic
GRHL3
(R79Q +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(S159L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(S431L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GLikely benign
GRHL3, STPG1
(W602*)
Single nucleotide variant
(nonsense +1 more)
Van der Woude syndrome 2
GUncertain significance
GRHL3
(R444H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GRHL3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
GRHL3, STPG1
(M595K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(D55E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(H138D +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GConflicting classifications of pathogenicity
GRHL3
(R341C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
+1 more
GConflicting classifications of pathogenicity
GRHL3
(V215I +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
(P434H +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
(P409A +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
+1 more
GBenign/Likely benign
GRHL3
(A272G +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
(W254* +2 more)
Single nucleotide variant
(nonsense)
Van der Woude syndrome 2
GPathogenic
GRHL3
(V160A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GRHL3
(N438S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GRHL3
(T408M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GRHL3, STPG1
(E566K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
GRHL3
(R391C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GLikely pathogenic
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(R298H +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(E476fs +2 more)
Microsatellite
(frameshift variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(F324fs +2 more)
Insertion
(frameshift variant)
Van der Woude syndrome 2
GPathogenic
CFAP57, LOC126805719
(D523Y)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
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