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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
PRCC
(P21A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P33S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P75T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(H153D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P201R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P208H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(S209L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(D214H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(K225N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P240L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(S241L)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma type 1
GUncertain significance
PRCC
(E274K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(L279F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P286A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P303L)
Single nucleotide variant
(missense variant)
YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA
Gother
PRCC
(P333R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(D341G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(P379A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC120893163, PRCC
(S420I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC120893163, PRCC
(M436V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRCC
(R467Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ADAM15, ADAR
+85 more
Copy number loss
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
CRABP2, DAP3
+45 more
Deletion
Charcot-Marie-Tooth disease type 2
GPathogenic
MUC1, PMVK
+90 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
CDC42SE1, KPRP
+228 more
Duplication
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+3 more
GUncertain significance
CRABP2, HDGF
+9 more
Copy number loss
not provided
GUncertain significance
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
BCAN, BGLAP
+31 more
Fusion
Congenital fibrosarcoma
GPathogenic
BCAN, BGLAP
+35 more
Copy number gain
not provided
GUncertain significance
ARHGEF11, ARHGEF2
+57 more
Copy number loss
not provided
GPathogenic
BGLAP, C1orf43
+90 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
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