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Links from Gene

Items: 1 to 100 of 228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNRG
(G48R +1 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GUncertain significance
AATF, ACACA
+13 more
Copy number gain
Hyperphosphatasia with intellectual disability syndrome 5
GLikely pathogenic
SYNRG
(V653M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P505A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(G23A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(K391R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(S504I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P37T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(M45R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(V291I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862546, SYNRG
(T789M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SYNRG
(C208S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(V206L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(A17V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(A2S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(L152S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(V1030I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(F782S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(A1066P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(L750F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(T717I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(P831T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(P698Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(A80G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P690S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(T606S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(S72P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(T762I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(S465N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(D406Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATF, ACACA
+15 more
Copy number loss
See cases
GPathogenic
AATF, ACACA
+14 more
Copy number loss
See cases
GPathogenic
AATF, ACACA
+5 more
Copy number gain
not specified
GUncertain significance
AATF, ACACA
+23 more
Copy number gain
not specified
GPathogenic
SYNRG
(D284E +5 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GUncertain significance
SYNRG
(E1001K +5 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GUncertain significance
SYNRG
(P118T +4 more)
Single nucleotide variant
(missense variant +1 more)
SYNRG-related disorder
GLikely benign
LOC126862546, SYNRG
Single nucleotide variant
(synonymous variant)
SYNRG-related disorder
GLikely benign
SYNRG
Single nucleotide variant
(synonymous variant)
SYNRG-related disorder
GLikely benign
SYNRG
Single nucleotide variant
(synonymous variant)
SYNRG-related disorder
GLikely benign
LOC126862546, SYNRG
(D1088A +5 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GLikely benign
SYNRG
Single nucleotide variant
(synonymous variant +1 more)
SYNRG-related disorder
GLikely benign
SYNRG
Single nucleotide variant
(synonymous variant)
SYNRG-related disorder
GLikely benign
LOC126862546, SYNRG
(E1098Q +5 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GBenign
LOC126862546, SYNRG
Single nucleotide variant
(synonymous variant)
SYNRG-related disorder
GBenign
SYNRG
(D181N +1 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GLikely benign
SYNRG
Single nucleotide variant
(intron variant)
SYNRG-related disorder
GLikely benign
LOC110120863, LOC112529910
+34 more
Copy number loss
Autism spectrum disorder
GPathogenic
DDX52, HNF1B
+1 more
Copy number gain
not provided
GUncertain significance
AATF, ACACA
+22 more
Copy number gain
not provided
GPathogenic
AATF, ACACA
+13 more
Deletion
not provided
GPathogenic
SYNRG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SYNRG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SYNRG
(F1015V +5 more)
Single nucleotide variant
(missense variant)
SYNRG-related disorder
GUncertain significance
SYNRG
Single nucleotide variant
(splice acceptor variant)
SYNRG-related disorder
GUncertain significance
SYNRG
(G120S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(I117T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(A581V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(A271G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(I327M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SYNRG
(P320L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(S274N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(V567M +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATF, ACACA
+14 more
Copy number gain
Chromosome 17q12 deletion syndrome
GPathogenic
AATF, ACACA
+32 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
SYNRG
(R126Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(N1020K +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(K439E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P193S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P392R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(A261T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(M52L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATF, ACACA
+14 more
Copy number loss
HNF1B-related disorder
GPathogenic
AATF, ACACA
+41 more
Copy number gain
Anomalous pulmonary venous return
GPathogenic
SYNRG
(G368C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862546, SYNRG
(V810A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AATF, ACACA
+13 more
Deletion
See cases
GLikely pathogenic
AATF, ACACA
+11 more
Duplication
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
SYNRG
(K1117E +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(M44T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(T520A +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126862546, SYNRG
(N732T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P398L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYNRG
(I439V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(E896K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(P305A +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SYNRG
(K662E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(V1002I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(G23V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(R266Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(G358V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(K1065E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(T938S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(A347P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(S1107R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(D549Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(V372I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNRG
(V299A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862546, SYNRG
(T847M +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
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