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Links from Gene

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055991, TTC9
(P28S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC9
(M209L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC9
(N199S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC9
(L184F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055992, TTC9
(P103L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055992, TTC9
(G95A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
TTC9
(S6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055991, TTC9
(R41K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055991, TTC9
(A65T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055992, TTC9
(L110P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TTC9
(A8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC9
(E118K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC9
(G161R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ISCA2, TMEM30B
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ACTN1, ADAM20
+34 more
Copy number loss
See cases
GLikely pathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
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