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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
ARMC7
(D8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(G12E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(Q18R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(A19E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(N42S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(E51Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARMC7
(V100I)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ARMC7
(Y86* +1 more)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
ARMC7
(M90V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC7
(P127L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ARMC7
(R147H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ARMC7
(R155S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ARMC7
(R179Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ARMC7
(R198H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ARMC7, ATP5PD
+19 more
Copy number gain
not specified
GUncertain significance
ACOX1, ARMC7
+52 more
Copy number gain
7q11.23 microduplication syndrome
GPathogenic
ARMC7, ATP5PD
+19 more
Copy number loss
not provided
GUncertain significance
ARMC7, CASKIN2
+14 more
Copy number loss
not specified
GUncertain significance
ARMC7, GGA3
+9 more
Copy number gain
not provided
GUncertain significance
ARMC7, ATP5PD
+15 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
BTBD17, ARMC7
+40 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
ARMC7, GGA3
+10 more
Copy number gain
not provided
GUncertain significance
ARMC7, ATP5PD
+13 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
ARMC7, ATP5PD
+20 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
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