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Items: 1 to 100 of 901

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5, ANGPT2
+380 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LINC02950, LINC03021
+393 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+448 more
Copy number gain
See cases
GPathogenic
LOC129999850, LOC129999851
+1038 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+393 more
Copy number gain
See cases
GPathogenic
LOC126860345, LOC126860346
+1103 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+687 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+471 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
LOC130000150, LOC130000151
+996 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+736 more
Copy number gain
See cases
GPathogenic
DMTN, DOK2
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
MIR4660, MIR548H4
+773 more
Copy number loss
See cases
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+256 more
Copy number gain
See cases
GPathogenic
DUSP4, EBF2
+1018 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+258 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+260 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+255 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+255 more
Copy number gain
See cases
GPathogenic
LOC129999842, LOC129999843
+232 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+241 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+217 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+205 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+198 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+199 more
Copy number gain
See cases
GLikely pathogenic
BLK, C8orf74
+205 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+208 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+195 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+193 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+207 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+206 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+201 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+205 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+188 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+187 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+187 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+160 more
Copy number loss
See cases
GPathogenic
LOC129999872, LOC129999873
+122 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+116 more
Copy number gain
See cases
GUncertain significance
BLK, CTSB
+88 more
Copy number gain
See cases
GUncertain significance
BLK, CTSB
+67 more
Copy number gain
See cases
GPathogenic
GATA4, LOC110120689
+6 more
Deletion
Atrioventricular septal defect 4
GPathogenic
LOC129999901, SNORA99
+6 more
Duplication
Atrioventricular septal defect 4
GUncertain significance
LOC110121280, GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4, LOC110121280
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GBenign
GATA4
Single nucleotide variant
(intron variant)
not provided
GBenign
GATA4
Single nucleotide variant
(intron variant)
GATA4-related disorder
GUncertain significance
GATA4
Single nucleotide variant
(intron variant)
GATA4-related disorder
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
GATA4-related disorder
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
not provided
GBenign
GATA4
Single nucleotide variant
(5 prime UTR variant +1 more)
Atrioventricular septal defect 4
GBenign
GATA4
Single nucleotide variant
(intron variant)
not specified
GBenign
GATA4
Single nucleotide variant
(intron variant)
not provided
GBenign
GATA4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GATA4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GATA4
(M1fs)
Deletion
(intron variant +2 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(Q3E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GATA4
(Q3P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GATA4
(S4N)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(S4R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
GATA4
(M7V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A8S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A8D)
Single nucleotide variant
(missense variant +1 more)
Congenital heart disease
GPathogenic
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A9T)
Single nucleotide variant
(missense variant +1 more)
Tetralogy of Fallot
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart disease
GPathogenic
GATA4
(N10K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
GATA4
(H11N)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(H11P)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G12W)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G12R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
+1 more
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(P14R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
GATA4
Deletion
(inframe_deletion +1 more)
Atrioventricular septal defect 4
GPathogenic
GATA4
(P15S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P15H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
GATA4
(Y18*)
Single nucleotide variant
(nonsense +1 more)
Atrioventricular septal defect 4
GPathogenic
GATA4
(Y18*)
Single nucleotide variant
(nonsense +1 more)
Atrioventricular septal defect 4
GPathogenic
GATA4
(E19K)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G21V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
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