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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
LOC120893174, LOC122149340
+166 more
Copy number loss
See cases
GPathogenic
CSRP1, CSRP1-AS1
+49 more
Copy number gain
See cases
GUncertain significance
LOC129932234, RNPEP
(A2V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(R14Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(D24V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(E35K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(P49S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(G51E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(G61C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(A63T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(L93P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(R97L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(S125F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(A133S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129932234, RNPEP
(G145E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RNPEP
(E156K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(R176W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RNPEP
(V187I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(I64T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(F218L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(A127V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(G265R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(I136V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(L146F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(L277P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNPEP
(G168E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(V177I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(P20L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(R186C +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RNPEP
(S187T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(H35R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(A339T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(N209S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(E212D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(N216S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(A64T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(A365T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(T78S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(T243M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(R376Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(R380H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(M252V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNPEP
(R106G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(G112D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(V113I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(V421I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(Y133F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(Q302E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(D163A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(P373A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(A383V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(M519I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(I232T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(D558G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(R441Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(D583N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(G614V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(S325N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELF3-AS1, RNPEP
(V514M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
ADIPOR1, ADORA1
+58 more
Copy number gain
not specified
GLikely pathogenic
ADIPOR1, ADORA1
+57 more
Copy number loss
not specified
GLikely pathogenic
ADIPOR1, ADORA1
+90 more
Duplication
Epilepsy, familial adult myoclonic, 5
GUncertain significance
ADIPOR1, ADORA1
+110 more
Duplication
not provided
GUncertain significance
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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