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Links from Gene

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYT14
(E220V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(E365Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(G475E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(A424T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CFHR5, CHI3L1
+185 more
Deletion
not provided
GPathogenic
SYT14
(E54K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(L503V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(P769R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(H375Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
Duplication
(intron variant)
SYT14-related disorder
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
SYT14-related disorder
GLikely benign
SYT14
(E220D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
(R397C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYT14
(I3T)
Single nucleotide variant
(synonymous variant +3 more)
SYT14-related disorder
+1 more
GLikely benign
SYT14
(A396V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(L3F +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SYT14
(I229T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(V358M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SYT14
(F345C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYT14
(N149S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(C501R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(G729S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(A4T)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SYT14
(S357N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
IGFN1, IKBKE
+211 more
Copy number gain
not provided
GPathogenic
SYT14
(Y347F +3 more)
Indel
(missense variant)
not provided
GUncertain significance
SYT14
(N495S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
(N19S)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
SYT14
(M425V +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
Single nucleotide variant
not provided
GLikely benign
ABCB10, ACBD3
+381 more
Copy number gain
See cases
GPathogenic
SYT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SYT14
Microsatellite
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Microsatellite
(3 prime UTR variant +1 more)
not provided
GBenign
SYT14
Microsatellite
(intron variant)
not provided
GBenign
SYT14
Insertion
(intron variant)
not provided
GBenign
LOC113939983, SYT14
Single nucleotide variant
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not specified
GBenign
SYT14
(W123R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
(L2M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SYT14
(R47H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
(M356I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
(T39A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Insertion
(intron variant)
not provided
GBenign
SYT14
Duplication
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
(intron variant)
not provided
GBenign
SYT14
Single nucleotide variant
not provided
GBenign
ATP8B2, AVPR1B
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SYT14
(E493G +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
G0S2, TRAF3IP3
+9 more
Copy number gain
not provided
GUncertain significance
CSRP1, PPFIA4
+145 more
Copy number gain
not provided
Gnot provided
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
SYT14
(N158S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SYT14
(S133L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SYT14
(P131R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SYT14
(G464S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SYT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant)
SYT14-related disorder
+1 more
GBenign/Likely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
ANGEL2, ATF3
+63 more
Copy number gain
not provided
GUncertain significance
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
SYT14-related disorder
+1 more
GLikely benign
SYT14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SYT14
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SYT14
(R397H +3 more)
Single nucleotide variant
(missense variant)
SYT14-related disorder
+1 more
GLikely benign
HHAT, KCNH1
+3 more
Copy number gain
not provided
GUncertain significance
EIF2D, LPGAT1
+75 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
SYT14
(S136N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(R113G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
SYT14
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
SYT14
(M1T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
SYT14
(A615V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SYT14
(R612S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYT14
(G339D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
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