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Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
TRPM7
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TRPM7
(R1861H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(N1844D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(D1839N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(L1818P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(I1802V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
(N1773fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
TRPM7-related disorder
GBenign
TRPM7
(T1741A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(V1718A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(S1711L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TRPM7
(S1659N +1 more)
Single nucleotide variant
(missense variant +1 more)
TRPM7-related disorder
GBenign
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRPM7
(H1642R +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
GUncertain significance
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
TRPM7-related disorder
GBenign
TRPM7
(K1615R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(N1592S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TRPM7
(P1591L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(T1537A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(M1530R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(M1530V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(Q1522R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TRPM7
(S1499del +1 more)
Deletion
(non-coding transcript variant)
TRPM7-related disorder
GBenign
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
(S1493P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(P1490L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(D1483N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(T1482I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRPM7
(T1467I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(N1466D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(I1459T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(T1455I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(D1445G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Microsatellite
(nonsense +1 more)
not specified
GUncertain significance
TRPM7
(D1445N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(H1443Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(H1443R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRPM7
(A1439V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(G1438R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(N1434S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(D1421G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TRPM7
(P1409S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(Q1382K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(F1378L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(H1370R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(S1358R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(S1351P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(A1348G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(K1323R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126862130, TRPM7
(S1300P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(V1294I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(K1290Q)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
GUncertain significance
LOC126862130, TRPM7
Single nucleotide variant
(synonymous variant +1 more)
TRPM7-related disorder
GBenign
LOC126862130, TRPM7
(I1270L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(Q1252*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
LOC126862130, TRPM7
(N1219S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862130, TRPM7
(R1217H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(R1198H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(F1189L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(Y1181C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
(I1138V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(I1134V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
(L1081R)
Single nucleotide variant
(missense variant +1 more)
See cases
GPathogenic
TRPM7
(Q1077*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TRPM7
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM7
(G1046D)
Single nucleotide variant
(missense variant +1 more)
Intestinal hypomagnesemia 1
GPathogenic
TRPM7
(G1046R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(I1044V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(T1031I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(M1000T)
Single nucleotide variant
(missense variant +1 more)
See cases
GPathogenic
TRPM7
(N999S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(N983K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TRPM7
(R975H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(V959L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(A950T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(F949Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
TRPM7
(K915N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(W887R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(Q885E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(M868I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
(R819Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(R819W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(V814L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRPM7
Deletion
(intron variant)
not provided
GBenign
TRPM7
(N802S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPM7
(D798G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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