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Items: 1 to 100 of 155

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGAP4, AGAP9
+1221 more
Copy number gain
See cases
GBenign
ANKRD30A, CCDC7
+119 more
Copy number gain
See cases
GPathogenic
NRP1
Single nucleotide variant
(3 prime UTR variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(S904L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(Y882C +3 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(E891Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(A875D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(V861M +3 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
(V871F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
(I840M +3 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(K824R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(D823N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(E827D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(E817K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NRP1
(E819K +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRP1
(D818H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRP1
(I818T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
NRP1
Single nucleotide variant
(intron variant)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
(V779L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(S767P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(R761C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(G759E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(M747I +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
+1 more
GUncertain significance
NRP1
(R734H +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(V726I +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GBenign
NRP1
(H725Q +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(S724F +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(R707L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(intron variant)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(intron variant)
NRP1-related disorder
GUncertain significance
NRP1
(T598M +2 more)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(P597S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +2 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +2 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +2 more)
NRP1-related disorder
GLikely benign
NRP1
(G597R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +2 more)
NRP1-related disorder
GLikely benign
NRP1
(A587V)
Single nucleotide variant
(missense variant +2 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
(L574V)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(G573R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(I562L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(F561L)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GBenign
NRP1
(T559M)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(R552W)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
+1 more
GUncertain significance
NRP1
(Y546F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(A537T)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(R535P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(S524L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
NRP1
(G523S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(G518R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(I517V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(R506Q)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(V495M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
NRP1
(I487V)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(N482S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(R468H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
(S432F)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(R405Q)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GBenign
NRP1
(I370T)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(G366R)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(K359M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(K347N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
NRP1
(T337M)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(T337A)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
+1 more
GUncertain significance
NRP1
(R334C)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(E312D)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(R307L)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
(R305H)
Single nucleotide variant
(missense variant +1 more)
NRP1-related disorder
GUncertain significance
NRP1
Single nucleotide variant
(synonymous variant +1 more)
NRP1-related disorder
GLikely benign
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