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Items: 1 to 100 of 3271

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999653, LOC129999654
+1380 more
Copy number gain
See cases
GPathogenic
C7orf33, CALD1
+1176 more
Copy number gain
See cases
GPathogenic
LOC129999666, LOC129999667
+1052 more
Copy number gain
See cases
GPathogenic
TMEM140, TMEM176A
+1046 more
Copy number gain
See cases
GPathogenic
LOC129999503, LOC129999504
+1025 more
Copy number gain
See cases
GPathogenic
LINC00996, LINC01003
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
WDR86, WDR86-AS1
+944 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+707 more
Copy number loss
See cases
GPathogenic
LOC129999755, LOC129999756
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
LOC105375556, LOC105375589
+540 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+538 more
Copy number loss
See cases
GLikely pathogenic
ABCB8, ABCF2
+533 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+473 more
Copy number loss
See cases
GPathogenic
LOC126860247, LOC126860248
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+329 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+293 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+212 more
Copy number gain
See cases
GLikely pathogenic
LOC129999582, LOC129999583
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+205 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+191 more
Copy number loss
See cases
GPathogenic
LOC129999632, LOC129999633
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2, LOC110121275
+3 more
Deletion
Long QT syndrome
GPathogenic
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GBenign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GBenign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2, LOC110121275
+3 more
Duplication
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
+3 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(3 prime UTR variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(stop lost +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(stop lost)
Cardiovascular phenotype
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(G818A +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
KCNH2
(S1159fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
KCNH2
(P1157L +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
(P1157S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(D1156G +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
KCNH2
(D1060N +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(D1156Y +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
(D1156H +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
KCNH2
(S815L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
(G1058C +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(G1058R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNH2
(G1154S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNH2
(H1057Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(H1057Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(H813fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome
GPathogenic
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GLikely benign
KCNH2
(H1153Y +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+5 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
(H1151fs +1 more)
Microsatellite
(frameshift variant)
Long QT syndrome
GUncertain significance
KCNH2
(H811Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(L810M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac arrhythmia
GLikely benign
KCNH2
(P1149S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
(S1051C +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(T1146S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
(L805V +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
(A1144T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
(G800fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
(P1139L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(P799S +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+1 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
(S797Y +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(L1136fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
KCNH2
(L1136F +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(R1135H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNH2
(R795C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNH2
(R794* +1 more)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GLikely benign
KCNH2
(P1132A +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
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