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Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHERF1, SLC9A3R1-AS1
(H27Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
NHERF1, SLC9A3R1-AS1
(G23V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
NHERF1-related disorder
GBenign
NHERF1, SLC9A3R1-AS1
(G36D)
Single nucleotide variant
(missense variant)
Hypophosphatemic nephrolithiasis/osteoporosis 2
GUncertain significance
NHERF1, SLC9A3R1-AS1
(E109V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Inversion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(L41Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(S46L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NHERF1, SLC9A3R1-AS1
(A120V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC130061617, NHERF1
+1 more
(A3V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
(A113P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(K34N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(E109L)
Indel
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(K142N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
(R87fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC130061617, NHERF1
+1 more
(S2N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
(A81V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
(A131P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
(R87L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(Y24C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(R107G)
Single nucleotide variant
(non-coding transcript variant +1 more)
NHERF1-related disorder
GUncertain significance
NHERF1, SLC9A3R1-AS1
(A9E)
Single nucleotide variant
(non-coding transcript variant +1 more)
NHERF1-related disorder
GUncertain significance
NHERF1, SLC9A3R1-AS1
(G52R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130061617, NHERF1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
SLC9A3R1-AS1, NHERF1
(G103C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NHERF1, SLC9A3R1-AS1
(D96N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC9A3R1-AS1, NHERF1
(H29N)
Single nucleotide variant
(missense variant)
Hypophosphatemic nephrolithiasis/osteoporosis 2
+2 more
GConflicting classifications of pathogenicity
NHERF1, SLC9A3R1-AS1
(P44A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
Hypophosphatemic nephrolithiasis/osteoporosis 2
+1 more
GLikely benign
NHERF1, SLC9A3R1-AS1
(C15F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(E136*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(E109*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC130061617, NHERF1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130061617, NHERF1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LOC130061617, MIR3615
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC9A3R1-AS1, NHERF1
(G30E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(L83R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(K142R)
Single nucleotide variant
(missense variant)
Hypophosphatemic nephrolithiasis/osteoporosis 2
+1 more
GUncertain significance
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NHERF1, SLC9A3R1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NHERF1, SLC9A3R1-AS1
(E68del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
NHERF1, SLC9A3R1-AS1
(E68A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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
NHERF1, SLC9A3R1-AS1
(L110V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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