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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
CTSS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTSS
(A193T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSS
(T173A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSS
Single nucleotide variant
(intron variant)
not provided
GBenign
CTSS
(I193T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSS
(K128N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSS, LOC128772204
(D120A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTSS, LOC128772204
(R113Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CTSS
(R3W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
YY1AP1, CRCT1
+228 more
Duplication
MHC class II deficiency
+3 more
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CTSK, HORMAD1
+1 more
Copy number loss
not provided
GUncertain significance
CTSK, SETDB1
+5 more
Copy number loss
not provided
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACP6, ADAMTSL4
+103 more
Copy number gain
See cases
GPathogenic
CIART, LCE2A
+154 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
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