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Items: 1 to 100 of 860

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAK1
(K146N +3 more)
Single nucleotide variant
(missense variant +2 more)
See cases
GUncertain significance
SPTBN1
(H1812R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SUPT16H
(K372E)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
F8
(G1769E)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
GRIN2B
Single nucleotide variant
(splice acceptor variant)
See cases
GLikely pathogenic
CUX1
Deletion
(inframe_deletion +1 more)
See cases
GUncertain significance
STAG1
(S700F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PSMD12
(K162T +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CDC42BPB
(R1528K +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
BPTF
(S2866fs +1 more)
Deletion
(frameshift variant)
See cases
GPathogenic
SPTBN2
(L570P +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CHD7
(A1378P)
Single nucleotide variant
(missense variant +1 more)
See cases
GPathogenic
AUTS2
(T873A +1 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
KDM5C
(P1525L +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
AHI1
(N1146S)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ASH1L
(R2841H +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PLVAP
(L224fs)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
CNOT1
(L1544fs)
Duplication
(frameshift variant +1 more)
See cases
GUncertain significance
TET3
(R401C +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ATP2B3
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
ARX
(I32M)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KCNJ6, KCNJ6-AS1
(R118L)
Single nucleotide variant
(non-coding transcript variant +1 more)
See cases
GUncertain significance
SAMD9
(I732S)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
DMD
(I1149fs +6 more)
Duplication
(frameshift variant)
See cases
GPathogenic
CDC42BPB
(N1172T +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MED13L
(Q1745E)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TRIP12
(D240V +4 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ACAN
(S2145F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ARHGAP31
(A154V)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MED13
(G1441A)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
INSL6, JAK2
Single nucleotide variant
(splice donor variant)
See cases
GLikely pathogenic
HNRNPUL2-BSCL2, BSCL2
(E309fs +3 more)
Deletion
(non-coding transcript variant +1 more)
See cases
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
VPS13D
(L66F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KIDINS220
(L491W +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
GK
(G19R)
Single nucleotide variant
(non-coding transcript variant +1 more)
See cases
GUncertain significance
HNRNPDL
(A46P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CIC
(G90E +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPTBN5
(Q2170*)
Single nucleotide variant
(nonsense)
See cases
GUncertain significance
SPTBN5
(E3103K)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
COL2A1
(I1344fs +1 more)
Deletion
(frameshift variant)
See cases
GPathogenic
DEPDC5
(V190L +1 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
TRRAP
(V1883I +2 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
TANC2
(R489W +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CHD5
(R240L)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KMT5B
(V242G +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
LOC130057104, PIGB
(G9R)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ZMYM2
(P513S +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
TRRAP
(A3421S +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KMT2E
(V1620L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SCN4A
(W306R)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+1 more
GUncertain significance
STK36
(T152A)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PACS1
(P783H)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETD1A
(C1638F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
POLR2A
(P1209R)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NF1
(M707fs)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
ANKRD11
(P2365L)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
STK36
(L122P)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CIC
(N1395K +3 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MYO7A
(W36* +1 more)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
ZMIZ1
(N190S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
GUncertain significance
CTCF
(G146D)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
NAA15
(A155G)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KCNC1
(P520S)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TRIP11
(L1802* +1 more)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
CDC42BPB
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
COL1A1
(P1167fs)
Deletion
(frameshift variant)
See cases
GPathogenic
DHX30
Single nucleotide variant
(splice donor variant)
See cases
GLikely pathogenic
ARCN1
(R200* +1 more)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
AUTS2
(G132fs)
Duplication
(frameshift variant)
Autism spectrum disorder due to AUTS2 deficiency
GPathogenic
RELN
(D387Y)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
CIT
(N1718T +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MED13L
(D263N)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TRRAP
(V1363I)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
LRP5
(D1028N +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SLC12A2
(M218R)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
POMGNT1, TSPAN1
(R470K +2 more)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
ACAN
Single nucleotide variant
(splice acceptor variant)
See cases
GLikely pathogenic
AR
(F263fs +1 more)
Deletion
(frameshift variant)
See cases
GPathogenic
AR
(S322* +1 more)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
WWOX
(V55L)
Single nucleotide variant
(missense variant +2 more)
See cases
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
HUWE1
(R761C)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked syndromic, Turner type
GUncertain significance
NFIB
(L121fs +6 more)
Deletion
(frameshift variant +1 more)
See cases
GLikely pathogenic
PHIP
(E727V)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
GRIN2A
(P424T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RNF213, RNF213-AS1
(C4017Y +1 more)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GLikely pathogenic
ENG
(S461N +1 more)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
SIN3A
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
POGZ
(A1150S +5 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SCN8A
(D185E)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ZNF292
Deletion
(inframe_indel)
See cases
GUncertain significance
PPP2R1A
(V104del)
Deletion
(5 prime UTR variant +2 more)
See cases
GUncertain significance
FRA10AC1
Single nucleotide variant
(splice acceptor variant)
See cases
GUncertain significance
MED27
(M189I)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
LOC129995965, SOX4
Duplication
(inframe_insertion)
See cases
GUncertain significance
PIK3CG
(F832L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KMT2C
(N3783D)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
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