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Items: 1 to 100 of 560702

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPCAM, LOC129933695
+1 more
Deletion
Lynch syndrome 1
GLikely pathogenic
TGFBR2
(E311K +8 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GPathogenic
DMD
(S1198fs +6 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KLHL15
(I401M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KA3
(E513fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GPR143
(P4Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TYMP
(M173fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
APOB
(M1189fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
EP300
(N1485K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EP300
(M372I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNRC6B
(L618fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
CACNA1I
(L1147F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHEK2
(C164fs +4 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
HIRA
(A29T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HIRA
(N339fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
PXDN
(Q1264*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MCM3AP, MCM3AP-AS1
(N1781fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
FTCD
(I199M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORC3
(Y667* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
ITSN1
(I1680L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITSN1
(G52R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNQ2
(V136A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRP3
(G696A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNAS
(S193del +7 more)
Microsatellite
(3 prime UTR variant)
not provided
GLikely pathogenic
GNAS
(P53fs)
Deletion
(5 prime UTR variant +2 more)
not provided
GLikely pathogenic
PCK1
(E611fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
DPM1
(E76fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
ZMYND8
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ZNF335
(E1100*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PTPRT
(A192fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
PHF20
(E686K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAK5
(K363fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
PRKCG
(L488P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPM4
(P382S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(S1558fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
RYR1
(M2608fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
UPF1
(R295Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIK3R2
(V669I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CPAMD8
(D135V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
CACNA1A
(G2475D +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TCF4
(K110R +11 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN2
(E63K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASZ1
(H1473Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXHD1
(G632fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PSMC5
(P312H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSMC5
(F203L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K3
(R293* +3 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
TANC2
Deletion
not specified
GUncertain significance
SMG8
Single nucleotide variant
not specified
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SGCA
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SGCA
(H84P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITGB3
(G319E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYL4
(G183C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH1
(I474V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFTUD2
(D690G +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SMARCE1
(I124M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAMB3
(V227fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
HNF1B
Deletion
not provided
GLikely pathogenic
HNF1B
(L440P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMB3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
PLXNA2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
NF1
(V917G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NF1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NUAK2
(Q556*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LOC125177444, PHF12
(R813*)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
UNC119
(D138V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYO15A
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
RAI1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
PIGL
(V9fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
MYH3
(V187fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
MYH2, MYHAS
(F10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH2, MYHAS
(V498L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHD3
(G190V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDM6B, LOC121587574
(S1230del)
Deletion
not specified
GUncertain significance
MPDU1, MPDU1-AS1
(Y23*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
GP1BA
(C33S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PAFAH1B1
(L311fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RERE
(E361fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PIEZO1
(L2214P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIPOR1
(W249* +3 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
ATP6V0D1
Single nucleotide variant
(splice acceptor variant)
not specified
GUncertain significance
PRG4
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
SALL1
(Q400* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PALB2
Deletion
(nonsense +2 more)
not provided
GLikely pathogenic
DHX9
(L378fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ABCC6
(E141* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
SERPINC1
(N107K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM2
(G1518fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
PKD1
(A42fs)
Duplication
(frameshift variant)
not provided
GPathogenic
PKD1
(W1414fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PKD1
(S1565fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SERPINC1
(T154I +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PKD1
(Q2058*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PKD1
(D2830fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PKD1
(C3015Y)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PKD1
(R3046fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PKD1
(G3127S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PKD1, PKD1-AS1
(V3583fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
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