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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ADAM23, C2orf80
+131 more
Copy number loss
See cases
GPathogenic
ACADL, C2orf80
+96 more
Copy number loss
See cases
GPathogenic
CCNYL1, FZD5
+15 more
Copy number gain
See cases
GUncertain significance
FZD5
(V580M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
(P569L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(A561S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
(M551V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5, LOC129935506
(H545Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FZD5
(I521M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(G518S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(G514D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FZD5
(L505V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FZD5
(K497T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FZD5
(G492A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
(L482F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(S477fs)
Deletion
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(Y470*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FZD5
(Y470fs)
Duplication
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(V464M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
(I463T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
(T440fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FZD5
(S425*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
Deletion
(inframe_deletion)
Congenital ocular coloboma
GLikely pathogenic
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
FZD5
(Y411C)
Single nucleotide variant
(missense variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FZD5
(N394K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(T374P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Insertion
(inframe_indel)
Congenital ocular coloboma
GLikely pathogenic
FZD5
(Y356C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(G355D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(H302fs)
Duplication
(frameshift variant)
FZD5-related disorder
GUncertain significance
FZD5
(R300P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(L289V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(L279R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(C277fs)
Deletion
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(L274fs)
Deletion
(frameshift variant)
Congenital ocular coloboma
GPathogenic
FZD5
(P270R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
(P267L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
(W238*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FZD5
(T236S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FZD5
(Q224*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FZD5
(V220I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(A219fs)
Indel
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(P216L)
Single nucleotide variant
(missense variant)
not provided
GBenign
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FZD5
(R211Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FZD5
(S203T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FZD5
(P176S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(P172T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(P162A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FZD5
(R161fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
FZD5
(P160H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(R152H)
Single nucleotide variant
(missense variant)
not provided
GBenign
FZD5
(R152G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(D149fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
FZD5
(D134G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(S132R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FZD5
(M131R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(P118L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(K113E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(R106S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
(M89I)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
FZD5
(N53fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FZD5
(G43S)
Single nucleotide variant
(missense variant)
FZD5-related disorder
GUncertain significance
FZD5
(G43R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5, LOC129935507
(A27G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD5, LOC129935507
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ABI2, ACADL
+38 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
ABI2, ADAM23
+58 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ABI2, ACADL
+44 more
Deletion
Primary pulmonary hypertension
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ACADL, ADAM23
+36 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
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