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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
LOC130006596, LOC130006597
+387 more
Copy number loss
See cases
GPathogenic
DEUP1, FAT3
+15 more
Copy number gain
See cases
GUncertain significance
DEUP1
(Q182K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEUP1
(S526L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
DEUP1, SLC36A4
+1 more
Copy number loss
not provided
GUncertain significance
C11orf54, CEP295
+4 more
Copy number gain
not provided
GUncertain significance
AMOTL1, ANGPTL5
+93 more
Copy number loss
not provided
GPathogenic
DEUP1, SLC36A4
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ANKRD49, C11orf54
+16 more
Copy number gain
not specified
GUncertain significance
C11orf54, CCDC81
+39 more
Copy number loss
not specified
GLikely pathogenic
AMOTL1, ANKRD42
+66 more
Copy number loss
not specified
GPathogenic
AMOTL1, ANKRD42
+72 more
Copy number loss
not specified
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
C11orf54, CEP295
+8 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
AASDHPPT, ACAT1
+95 more
Copy number loss
See cases
GPathogenic
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