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Links from Gene

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRRC37A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LRRC37A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LRRC37A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LRRC37A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC37A3
(P1021S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(K124E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRRC37A3
(W664R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P353T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P347S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(G792R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E1224D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E1202K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRRC37A3
(T237I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R69W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(A107T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(T740A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(D1453E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A155P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P682A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P56L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(Q654H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S370F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P593A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E1084K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(L324V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S1022N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(N538D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(L1265P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P276L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A1069E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A774V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(M521T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(N90S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRRC37A3
(A754T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(V606I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R779W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P646S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(W1445R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R441W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(G594R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(V579A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(G587E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(P197L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(S1128L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(K1135E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRRC37A3
(T707I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(Y696H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S236G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H614Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A1255V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R431C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(G193S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(W42R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(V1518I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRRC37A3
(E104K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S159G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(Q181K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(M351T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E1398D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(L442F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S272G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H784L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A187V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(T684I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H1056Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(W19C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(G764E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E332D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P621A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(I720T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E808K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(T338S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P1089L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(E556K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(S65Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(N813K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(T382I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H359N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H418D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R17C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(D1542Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(A438T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(L582V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(G1522D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(I844F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(T623M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(I344V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(R1077Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(P631L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LRRC37A3
(F329L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A3
(H1308Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LRRC37A3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC37A3
(P1371S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LRRC37A3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC37A3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
GNA13, LRRC37A3
+1 more
Copy number loss
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
CEP95, DDX5
+10 more
Duplication
Hyperkalemic periodic paralysis
GUncertain significance
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