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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CALM3, CCDC61
+190 more
Copy number loss
See cases
GLikely pathogenic
MEIOSIN, MIR330
+115 more
Copy number loss
See cases
GPathogenic
CCDC61, LOC130064746
(P290L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC61, IGFL4
+1 more
Copy number loss
not provided
GUncertain significance
OPA3, PPP1R37
+74 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
CCDC61, IGFL4
+1 more
Copy number loss
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
CCDC61, DMPK
+14 more
Copy number gain
not provided
GUncertain significance
NANOS2, IGFL4
+8 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+46 more
Copy number loss
See cases
GLikely pathogenic
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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