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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
LOC130006895, LOC130006896
+355 more
Copy number gain
See cases
GPathogenic
RBM7
(A4P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RBM7
(A6T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM7
(T11I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM7
(I37T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RBM7
(G47D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RBM7
(R78K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RBM7
(D122E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(S137F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(M154L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(N183S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(Q197E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(H106R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBM7
(G110E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(D240N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(R142C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM7
(R263L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ALG9, ANKK1
+50 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
AASDHPPT, ACAT1
+68 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ACAT1
+76 more
Copy number loss
not provided
GPathogenic
ALG9, ANKK1
+45 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
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
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