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Items: 55

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
DHRS4L1, DHRS4L2
+2 more
Deletion
Large for gestational age
+1 more
Gnot provided
DHRS4L2
(L6V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(L9F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(W12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DHRS4L2
(R14W)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DHRS4L2
(R14G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(K33M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(G17S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(A19T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(R23S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(V31M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(V60A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(E79V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(A65V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(R96Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(R98W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(G8D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(I110M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(D111N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(V13L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(N116K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(A117V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(S125N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DHRS4L2
(D135N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(I140T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(G161S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(V167M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
(A110D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHRS4L2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DHRS4L2
(I56L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHRS4L2
(V106M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHRS4L2
(H149Q +4 more)
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
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
ADCY4, CARMIL3
+31 more
Copy number gain
not provided
GUncertain significance
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
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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