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Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
GRHL3, GRHL3-AS1
Single nucleotide variant
(intron variant +1 more)
Van der Woude syndrome 2
GLikely benign
GRHL3, GRHL3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3, GRHL3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
(R13G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated cleft palate
GLikely pathogenic
GRHL3
(R11Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GRHL3
(T39A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GRHL3
(P39L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
GRHL3-related condition
GUncertain significance
GRHL3
Single nucleotide variant
(5 prime UTR variant +1 more)
Van der Woude syndrome 2
GLikely benign
GRHL3
(N51fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
GRHL3
(M47T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRHL3
(D55E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GLikely pathogenic
GRHL3
Deletion
(intron 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)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GConflicting classifications of pathogenicity
GRHL3
(R79Q +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Duplication
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
(Y44N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(Y101D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(G73A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
(V160A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
(H138D +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHL3
(R145C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(R191H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
(S159L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(P216S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
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
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHL3
(K255E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(V215I +2 more)
Single nucleotide variant
(missense variant)
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
(P220L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
(A272G +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(splice donor variant)
Isolated cleft palate
GPathogenic
GRHL3
(D242H +2 more)
Single nucleotide variant
(missense variant)
GRHL3-related condition
GUncertain significance
GRHL3
(R298H +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(W254* +2 more)
Single nucleotide variant
(nonsense)
Van der Woude syndrome 2
GPathogenic
GRHL3
(R260fs +2 more)
Duplication
(frameshift variant)
Isolated cleft palate
GPathogenic
GRHL3
(A264T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(R267P +2 more)
Single nucleotide variant
(missense variant)
GRHL3-related condition
GUncertain significance
GRHL3
(D270E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHL3
(F324fs +2 more)
Insertion
(frameshift variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
(N350T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
(G307S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
GRHL3
(R341C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
+1 more
GConflicting classifications of pathogenicity
GRHL3
(R391C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GLikely pathogenic
GRHL3
(R345H +2 more)
Single nucleotide variant
(missense variant)
Isolated cleft palate
GPathogenic
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHL3
(M413T +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GUncertain significance
GRHL3
(R363C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 1
+1 more
GConflicting classifications of pathogenicity
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(P423S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(G383C +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
GUncertain significance
GRHL3
Deletion
(splice donor variant)
Isolated cleft palate
GPathogenic
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
(G394S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHL3
(T443M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(T408M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GRHL3
(P455S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRHL3
(P409A +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
+1 more
GBenign/Likely benign
GRHL3
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome 2
GBenign
GRHL3
(N416S +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
(H418Q +2 more)
Single nucleotide variant
(missense variant)
GRHL3-related condition
GUncertain significance
GRHL3
(R470H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHL3
(S425F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
Single nucleotide variant
(splice donor variant)
Van der Woude syndrome 2
GPathogenic
GRHL3
Single nucleotide variant
(intron variant)
Van der Woude syndrome 2
GLikely benign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
Single nucleotide variant
(intron variant)
not provided
GBenign
GRHL3
(S431L +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
GRHL3
(P434H +2 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 2
GBenign
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