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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
APOB, APOB-ICR
+131 more
Copy number loss
See cases
GPathogenic
GDF7
(A8T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(G42S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(A65T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R69Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(G78V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R82W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R102G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GDF7
(A128T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(P171S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R193G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(Y196S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(D215N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(M217V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GDF7
(R219C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(P227R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(P240R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R248Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(S260F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(E264Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(A266T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R285P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(A286T)
Single nucleotide variant
(missense variant)
not provided
GBenign
GDF7
(G292A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(L295V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(E298K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(G306S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(G306A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(G316S)
Single nucleotide variant
(missense variant)
not provided
GBenign
GDF7
(R319L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(T322A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(A325S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(R343L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(D364H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GDF7
(S388W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(N403Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GDF7
(A431T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
APOB, ASAP2
+59 more
Copy number gain
not specified
GPathogenic
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
APOB, CYRIA
+25 more
Copy number loss
not provided
GPathogenic
APOB, ATAD2B
+22 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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