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Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLDN8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CLDN8
(C54*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC126862568, WNK4
(A325T +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
WNK4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
WNK4
(A1179V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
WNK4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
WNK4
(G826S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
WNK4
(T695S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK4
(G631D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK4
(R482W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK4
(E441D +1 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2B
GBenign
WNK4
(I408F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R254C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
IDUA, SLC26A1
(M244T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(G145S)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(R119Q)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(G76R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(D636Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(T629M)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(A571T)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(T562M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(P545S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R541H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(E487K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(L483Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(A469V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R455C)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
SLC26A1, IDUA
(L348P)
Single nucleotide variant
(missense variant +1 more)
Calcium oxalate urolithiasis
+1 more
GLikely benign
IDUA, SLC26A1
(S67C)
Single nucleotide variant
(3 prime UTR variant +3 more)
Hurler syndrome
+1 more
GUncertain significance
FGF23
(Q208R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPV5
(V179M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV5
(R157H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPV5
(R610H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPV6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRPV6
(A635D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV6
(I520L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPV6
(S488N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A1
(A233T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC25A1
(P96S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SLC25A1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
SLC4A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC4A3
(P222T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC4A3
(P124L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC4A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC4A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC4A3
(V745M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A3
(D49G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KL
(N166S)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GUncertain significance
KL
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GBenign/Likely benign
KL
(S1010N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KL
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GUncertain significance
KL
(I895T)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
GUncertain significance
KL
(I895V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KL
(D835E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GCM2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GCM2
(A278V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
(L277F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
(Y261F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
(E222V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GCM2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GCM2
(Y426S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
(S390P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3C2G
(S1233R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3C2G
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PIK3C2G
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PIK3C2G
(V932A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3C2G
(T896S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3C2G
(L864R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIK3C2G
(K359N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1
(I320F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1
(D236E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHERF1
(P344A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A1
(R638C)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 2
+2 more
GUncertain significance
SLC34A1
(P580H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC34A1
(F478L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
(E32K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
(G216R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
(E21K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
(P18L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC4A2
(A1184T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC4A2
(G1120R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC4A2
(A1047V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC4A2
(A748S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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