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Links from Gene

Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2B4
Single nucleotide variant
(intron variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
(A222V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A153T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R18L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(T1022R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(G1016D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(P62S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(F1045L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A136T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(D333G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
ATP2B4
(V344M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(R123C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(S1204P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ATP2B4
(G1171C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ATP2B4
(S1160P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ATP2B4
(E1039G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(K949E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R903H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(M875I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(V852M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A688T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(D644G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R643Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I627V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R624C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R488C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(M472V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A461T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I379V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADIPOR1, ADORA1
+58 more
Copy number gain
not specified
GLikely pathogenic
ADIPOR1, ADORA1
+57 more
Copy number loss
not specified
GLikely pathogenic
ATP2B4
Single nucleotide variant
(3 prime UTR variant +1 more)
ATP2B4-related disorder
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
(S1194L)
Single nucleotide variant
(3 prime UTR variant +1 more)
ATP2B4-related disorder
GBenign
ATP2B4
Single nucleotide variant
(3 prime UTR variant +1 more)
ATP2B4-related disorder
GLikely benign
ATP2B4
(I706V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(M831T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(R18H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(R732C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(P520A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(G634R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ATP2B4
(R755L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(F925L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(R704W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
(Y563C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP2B4
(F942L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(I184M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(D251E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(V968M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATP2B4
(S1200G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(D21A)
Single nucleotide variant
(missense variant)
ATP2B4-related disorder
GUncertain significance
ATP2B4
(D218Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I363T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R777Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I108T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R624H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(V289L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I111F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R777W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(E628K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A950S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A1183V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ATP2B4
(R607Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R993G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A683G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADIPOR1, ADORA1
+90 more
Duplication
Epilepsy, familial adult myoclonic, 5
GUncertain significance
ADIPOR1, ADORA1
+110 more
Duplication
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(R903C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP2B4
(D646N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(F410V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(D502N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
(I856T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R993C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP2B4
(E74K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R1144P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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