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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
KLK15
(M252I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(R250G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(Y238C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(P235A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
KLK15
(V227I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(I222T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(M191V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(R186C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLK15
(P156S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLK15
(P119R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(N118H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(D81G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(R79S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(V69A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(R68S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(M67I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(C62Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(R43H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(Q32R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLK15
(G19S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
FPR3, ZNF577
+115 more
Copy number gain
not specified
GLikely pathogenic
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
GRIN2D, GRWD1
+228 more
Copy number gain
not provided
Gnot provided
ACP4, ASPDH
+46 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
C19orf81, CD37
+66 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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