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Items: 1 to 100 of 106

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
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
TTLL4
(R14L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TTLL4
(Q47H)
Single nucleotide variant
(missense variant)
not provided
GBenign
TTLL4
(S107F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(N113D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R120C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(P127L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R137C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S138L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTLL4
(A187V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(K195N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S221C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S243L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(Q248K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(V270L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(A286D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(A290T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(T331S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R335W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R335Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(A345S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(P352L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R378Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TTLL4
(D405H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(T406N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(K417R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(P435T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(P457S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(V465M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R468C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S546T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(S565C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(Y588C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(R592W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(R592Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(W601R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(L606M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(K610T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806512, TTLL4
(P616S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(R684C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(K687E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(R715C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(H753D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(H753P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(S783P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806513, TTLL4
(E819K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(W834G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TTLL4
(I853V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(V860D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(I865V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(Y871F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S874R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(I894V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(E898K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(H914R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S917F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(D920G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(E943A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S953G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(Y995C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R1034H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R1037C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(Y1044S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(L1061F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(R1068W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S1083A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(N1104D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(T1132M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S1150G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S1165A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(T1168A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TTLL4
(Q1177K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(T1186S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL4
(S1198R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCS1L, CYP27A1
+3 more
Deletion
not provided
GPathogenic
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
AAMP, ABCB6
+42 more
Copy number gain
not specified
GUncertain significance
AAMP, ABCA12
+72 more
Copy number gain
not specified
GPathogenic
RNF25, SLC11A1
+50 more
Duplication
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+66 more
Copy number loss
not provided
GLikely pathogenic
CXCR2, FEV
+65 more
Copy number gain
not provided
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
AAMP, ARPC2
+26 more
Copy number gain
not provided
GLikely pathogenic
CNPPD1, DNAJB2
+39 more
Deletion
Desmin-related myofibrillar myopathy
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
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