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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ABHD12B, ARF6
+394 more
Copy number gain
See cases
GLikely pathogenic
ABHD12B, ATL1
+70 more
Copy number gain
See cases
GUncertain significance
ABHD12B, ATG14
+217 more
Copy number loss
See cases
GPathogenic
BMP4, CDKN3
+147 more
Copy number loss
See cases
GPathogenic
FRMD6
(Q13R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R16C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(V43I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(V43G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(S73L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R104H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(H142Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(E172G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(A207T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(K221R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(V221I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(A222T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(Y237H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(L262S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(E256K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(L282V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(I301V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R314H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(Y324C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FRMD6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FRMD6
(L355P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FRMD6
(D358N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FRMD6
(D2E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R357L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(A373V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R25C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R375H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(S387L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(P403L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FRMD6
(R411C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R87Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(D441G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(P454L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R105W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(E116A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(Y482C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FRMD6
(S490L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(G137R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(I530M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R524W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(H541R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(S184T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(S186R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(D188N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(F197V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(R199C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(D570E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(C576S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD6
(S586N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ABHD12B, ATL1
+11 more
Copy number gain
not specified
GUncertain significance
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
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