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 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+72 more
Copy number gain
See cases
GUncertain significance
LOC130000041, LOC130000042
+2 more
Duplication
Primary amenorrhea
GLikely benign
NKX2-6
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
NKX2-6
Duplication
(3 prime UTR variant)
not provided
GBenign
NKX2-6
(R299G)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+1 more
GUncertain significance
NKX2-6
(A293D)
Single nucleotide variant
(missense variant)
NKX2-6-related disorder
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(A276S)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
+2 more
GBenign
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(G249R)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(P233H)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NKX2-6
(A229V)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(P225S)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(L213fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
NKX2-6
(G217C)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(R215H)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+1 more
GUncertain significance
NKX2-6
(P211R)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(A209S)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(R207Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(P205L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(L198P)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(E197K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NKX2-6
(R191L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(R191G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NKX2-6
(Q190*)
Single nucleotide variant
(nonsense)
Conotruncal heart malformations
GLikely pathogenic
NKX2-6
(Q181H)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(F180L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(T174M)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(P160R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NKX2-6
(P160S)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(Y156*)
Single nucleotide variant
(nonsense)
NKX2-6-related disorder
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(R155P)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(R155L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(Q153fs)
Duplication
(frameshift variant)
Cerebral palsy
+1 more
GLikely pathogenic; risk factor
NKX2-6
(K152T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NKX2-6
(K152*)
Insertion
(nonsense)
Conotruncal heart malformations
GLikely pathogenic
NKX2-6
(F151L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GLikely pathogenic
NKX2-6
(R149Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(A146V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NKX2-6
(L145P)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(F139L)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(P135L)
Single nucleotide variant
(missense variant)
NKX2-6-related disorder
GUncertain significance
NKX2-6
(K134M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NKX2-6
(R133Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NKX2-6
(A129E)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+2 more
GBenign/Likely benign
NKX2-6
Single nucleotide variant
(synonymous variant)
Conotruncal heart malformations
GLikely benign
NKX2-6
(R123H)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+1 more
GConflicting classifications of pathogenicity
NKX2-6
(R123G)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(G122C)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(G121fs)
Deletion
(frameshift variant)
NKX2-6-related disorder
GUncertain significance
NKX2-6
(R120P)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+2 more
GLikely benign
NKX2-6
(S118R)
Single nucleotide variant
(missense variant)
NKX2-6-related disorder
GUncertain significance
Format
Items per page
Sort by
Choose Destination