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Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058149, LOC130058150
+925 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
BFAR, CPPED1
+113 more
Copy number loss
See cases
GLikely pathogenic
BFAR, CPPED1
+110 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+101 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+58 more
Copy number gain
See cases
GUncertain significance
ABCC1, BFAR
+45 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+46 more
Duplication
not specified
GUncertain significance
ABCC1, ABCC6
+57 more
Deletion
16p13.11 recurrent microdeletion syndrome
GLikely pathogenic
MIR6770-1, MIR6770-2
+57 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+56 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+56 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+56 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+55 more
Deletion
Autism
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+45 more
Copy number loss
See cases
GPathogenic
MIR3180-1, MIR3180-2
+54 more
Deletion
Schizophrenia
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
LOC126862302, LOC126862303
+95 more
Copy number gain
See cases
GUncertain significance
MIR6770-1, MIR6770-2
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+44 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+44 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+44 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
MIR3180-4, MIR6770-2
+54 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
PDXDC1, RRN3
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
LOC100288162, LOC112340377
+11 more
Copy number loss
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, BMERB1
+41 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
LOC100288162, LOC100505915
+16 more
Copy number loss
See cases
GLikely benign
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+45 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, BMERB1
+40 more
Copy number gain
See cases
GUncertain significance
PDXDC1, RRN3
+40 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+41 more
Copy number gain
See cases
GUncertain significance
NPIPA1
(P73L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(R93H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(R94H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(I101T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(L109F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(R132C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(D134N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(R223H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
NPIPA1
(G227A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(K240I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(P266T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPIPA1
(E268K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(C269R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NPIPA1
(L289V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(L270Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(T272S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
NPIPA1
(T291N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPIPA1
(L293V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(P276S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(P280L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(D302E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(A290V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
NPIPA1
(Y314N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(Y295S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(P328A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(A343E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPIPA1
(K329E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC1, ABCC6
+13 more
Copy number gain
not specified
GPathogenic
ABCC1, ABCC6
+13 more
Copy number gain
not specified
GPathogenic
ABCC1, ABCC6
+13 more
Copy number gain
not specified
GPathogenic
ABCC1, ABCC6
+13 more
Copy number gain
not specified
GPathogenic
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