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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
ACBD3, ACBD3-AS1
+287 more
Copy number loss
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
LOC129932697, LOC129932698
+309 more
Copy number loss
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+313 more
Copy number loss
See cases
GPathogenic
GUK1, ARF1
+100 more
Copy number gain
See cases
GLikely pathogenic
WNT3A
(L4P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(L9F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(L17P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(S19N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(P30S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(K51R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(V60M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
WNT3A
(I62M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(V66L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(E68K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(I72S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(E76*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(F81L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(R82C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(R82H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(G83S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(R85Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(V91I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(D93N)
Single nucleotide variant
(missense variant)
not provided
GBenign
WNT3A
(L95Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(I97V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(G99R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(I115M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(G119S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT3A
(R126H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(A134T)
Single nucleotide variant
(missense variant)
not provided
GBenign
WNT3A
(R141H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
WNT3A
(P146L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(W152L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(E157K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(D158N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(I159T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(M164I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(S166C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT3A
(R173W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(E174fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
WNT3A
(R176Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(N184S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
(R185H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT3A
(C212*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
WNT3A
(W219R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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