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Items: 1 to 100 of 374

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
HYMAI, LOC113146422
+45 more
Copy number gain
See cases
GPathogenic
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(D27G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126859819, LOC129997378
+2 more
Copy number gain
See cases
GUncertain significance
LOC129997378, LOC132089372
+1 more
Copy number gain
See cases
GLikely benign
UTRN
(M56V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(M56I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(T58I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(G72A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R86T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(H101L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC132089372, UTRN
(N104D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(D114G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(K121R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not specified
GLikely benign
UTRN
(L156V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(T164S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R191Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(D195E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E212K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UTRN
(V235I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(K241I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R264C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E279K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(I284T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(L322M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UTRN
(D341N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(K346E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(H362Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(V369I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UTRN
(L396V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(S408N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(K424R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R440C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(P448S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(M483L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(R515C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E518Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R520C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E537G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(L540F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R571Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(M580I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(D596N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(A606V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(M644L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(D651E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(L652I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(I663V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(T664R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(P674T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(D693G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(A709T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(I710M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(M721I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(Q722E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
UTRN
(E737A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E767K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(I769V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(N771H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(S777L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UTRN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UTRN
(R792G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(K817E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(T824I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R831W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UTRN
(R843W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(N847H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UTRN
(G884D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R885H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UTRN
(V893I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(R896H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(H899R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UTRN
(D925V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(A946V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UTRN
(Q948R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(A968G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(T971I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(E975D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UTRN
(K1006E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126859819, UTRN
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126859819, UTRN
(A1023T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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