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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
CD109, CD109-AS1
+34 more
Copy number loss
See cases
GUncertain significance
CD109
(G3V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P24S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(R27W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G34R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(A60V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(T70S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(D112N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD109
(L115F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD109
(I166F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD109
(I200V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I129V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD109
(Y147C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(M241V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(N165S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(T174M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I209T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(M299V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P241R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I273V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G300D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD109
(T381S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(L382P +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD109
(Q339E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD109
(Q416H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P423S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(S348R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(Y369C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(F370L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD109
(S404L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(M422V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G433R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(D539H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(W563G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(Q505E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P506L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I509V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(L561H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(L641F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD109
(Y660C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(H599R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(S639F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G647C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(E652K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
(T725A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(F743L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P762S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(L803S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P809S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I820N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(N832S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(R839G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G920S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G843V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G922S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(L939M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(D870E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD109
(R881W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(R958G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD109
(T1015S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD109
(G1025S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(D1029E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD109
(Y1051F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(K1061R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(V1068M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G1023E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(A1038G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(E1116Q +1 more)
Single nucleotide variant
(missense variant)
High myopia
GUncertain significance
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
(G1119D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(M1044L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(K1053R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(A1148G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(I1087V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(G1176S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD109
(D1183E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(K1189E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(K1189T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(R1150G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD109
(T1232I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CD109
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
(Y1184C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD109
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD109
(H1219R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD109
(S1229L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD109
(P1308L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
Single nucleotide variant
(intron variant)
not provided
GBenign
CD109
(A1314V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(A1314E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(R1414C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(P1398L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109
(K1419N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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