U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 3565

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
LOC130000602, LOC130000603
+470 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
ATP6V0D2, C8orf88
+217 more
Copy number loss
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC130000714
+2 more
Deletion
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
NBN
Single nucleotide variant
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
LOC126860438, NBN
Duplication
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GLikely benign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Deletion
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GLikely benign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GLikely benign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
NBN
Deletion
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GBenign
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
LOC126860438, NBN
Duplication
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
LOC126860438, LOC130000714
+1 more
Deletion
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
LOC126860438, LOC130000714
+1 more
Duplication
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Duplication
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
LOC126860438, NBN
Deletion
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
LOC126860438, LOC130000714
+1 more
Duplication
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Deletion
Microcephaly, normal intelligence and immunodeficiency
GLikely pathogenic
NBN
Deletion
(3 prime UTR variant)
not specified
GLikely benign
NBN
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
Deletion
Microcephaly, normal intelligence and immunodeficiency
GLikely pathogenic
NBN
Single nucleotide variant
(stop lost)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
(R672T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
(R754G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
GLikely benign
NBN
(R672del +1 more)
Deletion
(inframe_deletion)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
(R753K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
(R753T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
(R671G +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
GLikely benign
NBN
(R753fs +1 more)
Deletion
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
(R670T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NBN
(L750F +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
NBN
(Y749C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
(Y749F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NBN
(Y749H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
(Y749N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely benign
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GLikely benign
NBN
(P666S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
(N665I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NBN
(N747S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GUncertain significance
NBN
(N665D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
GUncertain significance
NBN
Deletion
(nonsense)
Aplastic anemia
+2 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
NBN
(Y746* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
GLikely pathogenic
NBN
(Y746* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
(Y746C +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
(Y746D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination