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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSTYK
(S883T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(D881N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(D881Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSTYK
(R878G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(E874Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(S871F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSTYK
(I864V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(L861F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(I856V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(R828H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(Y840C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(F767L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
(R739Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSTYK
(R739W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSTYK
(R736Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(I733V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSTYK
(N721S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(P705L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DSTYK
(G661fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
DSTYK
(R660Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(E657Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Deletion
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Duplication
(intron variant)
not provided
GLikely benign
DSTYK
(C641R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
DSTYK
(R635H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DSTYK
(R626Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSTYK
(R624W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(T618M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(R614W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(intron variant)
Congenital anomalies of kidney and urinary tract 1
+1 more
GConflicting classifications of pathogenicity
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(R592Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSTYK
(R592W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(S587T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(T561S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSTYK
(V508I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(K479T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSTYK
(R471Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(L432V)
Single nucleotide variant
(missense variant)
not provided
GBenign
DSTYK
(D418A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(Q413fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
DSTYK
(R411Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(L364V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(K360N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(R354H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(H348Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(L343W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(Q336R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(K328T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSTYK
(A322T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(S314N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(R305H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(R300S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(S286L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSTYK
(S286W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DSTYK
(F244L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSTYK
(D221E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DSTYK
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 23
+1 more
GConflicting classifications of pathogenicity
DSTYK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DSTYK
(A206V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DSTYK
(H203Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 23
+1 more
GUncertain significance
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