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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCNKA, LOC106501712
(L252F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLCNKA, LOC106501712
(D383Y +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
GUncertain significance
CLCNKB
(R8H)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
LOC106501713, CLCNKB
(R438C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCNKB, LOC106501713
(F648L +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
CLCNKB, LOC106501713
(V668L +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
CLDN19
(V224E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
(W51C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A3
(V745M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(T435M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(S247F)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+3 more
GConflicting classifications of pathogenicity
CASR
(M307T)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(D398N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+3 more
GLikely benign
CASR
(R866L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Q926R +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+4 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(S67C)
Single nucleotide variant
(3 prime UTR variant +3 more)
Hurler syndrome
+1 more
GUncertain significance
IDUA, SLC26A1
(D636Y)
Single nucleotide variant
(missense variant +1 more)
SLC26A1-related disorder
+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
(R541H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IDUA, SLC26A1
(L483Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(R455C)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(L348P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
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
SLC26A2
(R58C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SLC34A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GCM2
(Y426S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCM2
(S390P)
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
TRPV6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPV5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC34A3
(V73A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
(S82I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
(A147T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
(P158S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC34A3
(G191D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC34A3
(R351C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ1
(K88E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ1
(Y81C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FGF23
(Q208R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3C2G
(L864R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VDR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KL
(N166S)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GUncertain significance
KL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KL
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GUncertain significance
CLDN10
(A148S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC12A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC12A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC12A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHERF2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Kidney disorder
GUncertain significance
UMOD
(R588Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(V550I +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+1 more
GConflicting classifications of pathogenicity
SLC12A3
(V397M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC12A3
Single nucleotide variant
(synonymous variant)
SLC12A3-related disorder
+1 more
GLikely benign
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNK4
(G826S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SLC4A1
(R901W)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHERF1
(D236E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1
(I320F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1
(P344A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC13A3
(I51F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACO2
(R84*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ACO2, POLR3H
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACO2, POLR3H
(V643I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CLCN5, LOC126863258
(A610T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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