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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007898, LOC130007899
+206 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+85 more
Copy number gain
See cases
GLikely pathogenic
IGFBP6
(H4Y)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IGFBP6
(L10P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(E55G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(E61D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(L64H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(G72E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(P87T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(E91Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(P106Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(A107D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(R108C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6, LOC130007958
(A111T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
IGFBP6
(R128H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(N133S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(R134C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(R134H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(S148F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IGFBP6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IGFBP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IGFBP6
(R164H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(R199Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IGFBP6
(Q205H)
Single nucleotide variant
(missense variant)
not provided
GBenign
IGFBP6
(R208C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IGFBP6
(R217Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
IGFBP6
(D227G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBP2, SP7
+17 more
Copy number loss
not provided
GUncertain significance
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ZNF740, ITGB7
+8 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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