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Links from MedGen

Items: 1 to 100 of 526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDCCAG8
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 16
GLikely pathogenic
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
Duplication
(synonymous variant +2 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(Q165* +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GPathogenic
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(E173fs +3 more)
Duplication
(frameshift variant)
Senior-Loken syndrome 7
+1 more
GPathogenic
SDCCAG8
Deletion
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Deletion
(nonsense)
Senior-Loken syndrome 7
+1 more
GPathogenic
SDCCAG8
(E644G +3 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(G15R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Deletion
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(R564G +3 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+2 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(3 prime UTR variant +2 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(E466G +3 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Duplication
(intron variant)
Senior-Loken syndrome 7
+1 more
GBenign
SDCCAG8
Deletion
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(Q190* +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
SDCCAG8-related disorder
+2 more
GPathogenic/Likely pathogenic
SDCCAG8
Deletion
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Deletion
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Deletion
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Deletion
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
CEP170, SDCCAG8
Deletion
Bardet-Biedl syndrome 16
+1 more
GPathogenic
SDCCAG8
(H186P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(K147E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(H191Y +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(splice donor variant)
Senior-Loken syndrome 7
+1 more
GLikely pathogenic
SDCCAG8, AKT3
(T703I +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+2 more
GUncertain significance
SDCCAG8
(Q59P +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
(R401W +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(S273P +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(R82L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(R183S +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(A382E +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(S4C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Deletion
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(M425K +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+2 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(E396K +3 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Duplication
(intron variant)
Senior-Loken syndrome 7
+1 more
GBenign
SDCCAG8
(S28fs)
Deletion
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GPathogenic
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(N111D +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(E133G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(D40N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(E88G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(Q254R +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(N434I +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(K256N +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(E506A +3 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(Q70P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Duplication
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(A61D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(T42A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
(A706V +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
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