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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
PTX3, VEPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PTX3, VEPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PTX3, VEPH1
(H39Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTX3, VEPH1
(M68V)
Single nucleotide variant
(missense variant +1 more)
PTX3-related disorder
GUncertain significance
PTX3, VEPH1
(E84V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(E91K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(R94W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(R101K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(E119Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(L120P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(D126H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(A127E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(E138A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(E138D)
Single nucleotide variant
(missense variant +1 more)
PTX3-related disorder
GUncertain significance
PTX3, VEPH1
(R141L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(R147H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(E155G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(D162H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(H164Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(Q167R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTX3, VEPH1
(A170P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(A177E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(T216R)
Single nucleotide variant
(missense variant +1 more)
PTX3-related disorder
GUncertain significance
PTX3, VEPH1
(R231K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(Y239H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(Y239C)
Single nucleotide variant
(missense variant +1 more)
PTX3-related disorder
GUncertain significance
PTX3, VEPH1
(G265R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PTX3, VEPH1
(R266T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(T268I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(I307V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PTX3, VEPH1
(E313G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(L333F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(R360Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTX3, VEPH1
(Q372L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(P373T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTX3, VEPH1
(H374R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
C3orf80, CCNL1
+16 more
Copy number gain
not specified
GUncertain significance
AADAC, AADACL2
+75 more
Copy number gain
not specified
GPathogenic
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic
PTX3, SCHIP1
+83 more
Copy number loss
not provided
GPathogenic
PLOD2, PLS1
+115 more
Copy number gain
Global developmental delay
GPathogenic
AADAC, AADACL2
+115 more
Copy number gain
See cases
GPathogenic
C3orf80, CCNL1
+16 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
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