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Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VANGL2
(S104P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(G471S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(C103F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(Y414C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(E209D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(P244S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(C103R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(T72M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(G445E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(A443T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(H281R)
Single nucleotide variant
(missense variant)
VANGL2-related disorder
GBenign
VANGL2
Single nucleotide variant
(synonymous variant)
VANGL2-related disorder
GLikely benign
VANGL2
Single nucleotide variant
(synonymous variant)
VANGL2-related disorder
GLikely benign
VANGL2
(T78I)
Single nucleotide variant
(missense variant)
Neural tube defect
GUncertain significance
CD244, CD48
+7 more
Copy number loss
not provided
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
VANGL2
(R135W)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
VANGL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL2
(S303F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(R454H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(N262H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(R90C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(A329V)
Single nucleotide variant
(missense variant)
Neural tube defect
GUncertain significance
VANGL2
(R388W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(Q241H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(R29G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(V477I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(R170W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(F367L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(G50R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL2
(K295R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP1A2, ATP1A4
+27 more
Copy number gain
not provided
GUncertain significance
VANGL2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ACKR1, ADAMTS4
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
VANGL2
(D102G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
VANGL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
VANGL2
(A443V)
Single nucleotide variant
(missense variant)
not provided
GBenign
VANGL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
VANGL2
(R31C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
ATP1A2, ATP1A4
+31 more
Copy number gain
not provided
GUncertain significance
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
VANGL2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VANGL2
(R324Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
VANGL2
(F437S)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
VANGL2
(R353C)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
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