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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 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
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
MIR4503, MIR624
+399 more
Copy number loss
See cases
GPathogenic
ADCY4, CARMIL3
+122 more
Copy number loss
See cases
GPathogenic
GZMH
Single nucleotide variant
(stop lost)
not provided
GBenign
GZMH
(R181H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(R245C +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GZMH
(K244E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(K193T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GZMH
(T184P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(R174C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(L159V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(S132N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(S131G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(R125W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(E115G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GZMH
(D108N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(I79T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(A76S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(G75R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(L74W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(T73A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMH
(I52V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GZMH
(G51S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIPK3, RNF31
+41 more
Copy number loss
not provided
GLikely pathogenic
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
MRPL52, MYH6
+77 more
Duplication
Lysinuric protein intolerance
+1 more
GUncertain significance
AKAP6, AP4S1
+19 more
Copy number loss
not provided
GPathogenic
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ADCY4, CARMIL3
+48 more
Copy number loss
See cases
GPathogenic
CMA1, CTSG
+3 more
Copy number gain
See cases
GUncertain significance
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
OR5AU1, OR6S1
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
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