U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OGFOD1
(A309T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(G95S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(E114K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(M55V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
BBS2, OGFOD1
(Y466H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
(K330N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130059043, OGFOD1
(E41V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
BBS2, OGFOD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
OGFOD1
(V115A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(P157T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(R255W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(L104M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
(S231L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(M58L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
Microsatellite
(intron variant)
Bardet-Biedl syndrome 2
+1 more
GUncertain significance
OGFOD1
(L126H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(W263C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCL17, CCL22
+54 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
LOC130059043, OGFOD1
(R13P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
OGFOD1
(D2Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
(I376T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
(R464Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(E145G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(Q282K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130059043, OGFOD1
(Q38R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
OGFOD1
(M55I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
OGFOD1
(N92I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
OGFOD1
(H62R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(R162L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(R107H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BBS2, OGFOD1
(S537A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130059043, OGFOD1
(R13W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
BBS2, OGFOD1
(I342F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BBS2, OGFOD1
(P388R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OGFOD1
(S202L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OGFOD1
(H257Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERPUD1, IRX3
+99 more
Copy number gain
not provided
GPathogenic
IRX5, IRX6
+189 more
Deletion
not provided
GPathogenic
SYCE1L, TAF1C
+368 more
Copy number gain
not provided
GPathogenic
AMFR, BBS2
+4 more
Copy number gain
not specified
GUncertain significance
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
ADGRG1, ADGRG3
+68 more
Copy number gain
not provided
GUncertain significance
AMFR, NUDT21
+2 more
Copy number loss
not provided
GUncertain significance
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
AARS1, ABCC11
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ADCY7, ADGRG1
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC11, ABCC12
+100 more
Copy number gain
See cases
GPathogenic
BBS2, CETP
+17 more
Copy number gain
See cases
GUncertain significance
AARS1, ABCC1
+591 more
Copy number gain
See cases
GUncertain significance
ZC3H7A, ZCCHC14
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
DPEP2, DPEP3
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
GALNS, GAN
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
SLC7A6, SLC7A6OS
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination