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 215

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
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001415, LOC130001416
+1067 more
Copy number gain
See cases
GPathogenic
LOC124188223, LOC124188224
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
ADGRB1, ARC
+140 more
Copy number loss
See cases
GPathogenic
GPIHBP1
Single nucleotide variant
not provided
GBenign
GPIHBP1
Deletion
Hyperlipoproteinemia, type 1D
GPathogenic
GPIHBP1
(A3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign
GPIHBP1
(G5W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
GPIHBP1
(G5R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
GPIHBP1
(L11F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
GPIHBP1
Variation
(no sequence alteration)
Cardiovascular phenotype
+1 more
GBenign
GPIHBP1
(F14C)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(G15R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
(R16W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPIHBP1
Variation
(intron variant)
not provided
GBenign
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GPIHBP1
Deletion
(intron variant)
not provided
GBenign
GPIHBP1
Deletion
(intron variant)
not provided
GBenign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(D30E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
(E31K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
(E31V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GPIHBP1
(G34R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GPIHBP1
(D36H)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
+1 more
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GPIHBP1
(E40K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
(E45K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(E50K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(T51S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(P55A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
(G56R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GPIHBP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPIHBP1
Single nucleotide variant
(splice acceptor variant)
Hyperlipoproteinemia, type 1D
+1 more
GPathogenic
GPIHBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GPIHBP1
(L63P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
(R64W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
(R64Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
GPIHBP1
(C65R)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GConflicting classifications of pathogenicity
GPIHBP1
(C65Y)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
GPathogenic
GPIHBP1
(C65S)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GPathogenic
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(C68G)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GPathogenic
GPIHBP1
(C68Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GPIHBP1
(L71V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(R76C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPIHBP1
(R76H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(C77Y)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GLikely pathogenic
GPIHBP1
(H85R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
GPIHBP1-related disorder
+3 more
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(C89F)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GPathogenic
GPIHBP1
(C89*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPIHBP1
(T90K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
(T91N)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type 1D
GUncertain significance
GPIHBP1
(T91I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
(A94P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPIHBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
GPIHBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination