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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
ABI3, ATP5MC1
+92 more
Copy number gain
See cases
GUncertain significance
LOC130061104, LOC130061105
+87 more
Copy number loss
See cases
GPathogenic
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
COL1A1, DLX3
+74 more
Copy number loss
See cases
GPathogenic
PHB1
Single nucleotide variant
(3 prime UTR variant)
Breast cancer, susceptibility to
Grisk factor
PHB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PHB1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHB1
(T80S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PHB1
(D68Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PHB1
(V22M)
Single nucleotide variant
(missense variant)
Ovarian cancer
GBenign
ABCC3, ABI3
+45 more
Deletion
Tricho-dento-osseous syndrome
+1 more
GPathogenic
ABI3, ATP5MC1
+16 more
Copy number gain
not provided
GUncertain significance
ABI3, ATP5MC1
+11 more
Copy number gain
not provided
GUncertain significance
AANAT, AARSD1
+1143 more
Copy number gain
not provided
GPathogenic
SAMD14, SLC38A10
+1143 more
Copy number gain
not provided
GPathogenic
ADAP2, ADORA2B
+1143 more
Copy number gain
not provided
GPathogenic
HOXB3, HOXB4
+67 more
Copy number loss
not provided
GLikely pathogenic
TNFSF12, TNFSF12-TNFSF13
+1143 more
Copy number gain
See cases
GPathogenic
AIPL1, AKAP1
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
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