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Links from Gene

Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MINK1
(K717R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MINK1
(P516L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1150H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(V732M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D891N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D770N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO39, FGF11
+209 more
Duplication
not provided
GUncertain significance
C17orf107, CHRNE
+1 more
Deletion
Congenital myasthenic syndrome 4A
GLikely pathogenic
MINK1
(R290W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1312C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1091L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(G947R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(G866R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(S910L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(Q786R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R706W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(S703N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060036, MINK1
(A7V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MINK1
(R678H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MINK1
(T681I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(A612T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(A605T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MINK1
(E470D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(L441P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ABR, ALOX15
+116 more
Copy number loss
not specified
GPathogenic
MINK1
(L1003F +4 more)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MINK1
(R1034Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130060036, MINK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MINK1
(Q1158P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MINK1
(S702L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R639H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D1185N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
MINK1
(H735Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P328R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P599T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R911Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D1130H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P719L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MINK1
(R351C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(S93T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R639C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1028W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(E608K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1084Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(G270S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R778W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(G855S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(E576D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(A750T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R746Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(V713I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D807E +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MINK1
(P600T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(E1153A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(C1225S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(L178M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P742R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(M801T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(D171E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R748L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1297G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(T1281M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(Q877H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P669R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(R1289H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(I1046V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(Q317R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(K915N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(Q377L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(G444A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MINK1
(P787T +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C17orf107, CAMTA2
+22 more
Copy number gain
not provided
GUncertain significance
MINK1
(L1032R +4 more)
Single nucleotide variant
(missense variant)
Autism
+4 more
GUncertain significance
C17orf107, C17orf114
+68 more
Duplication
7p22.1 microduplication syndrome
GUncertain significance
ALOX15, ANKFY1
+31 more
Copy number loss
not specified
GUncertain significance
CHRNE, MINK1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
GBenign
CHRNE, MINK1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
ABR, ALOX15
+115 more
Copy number loss
See cases
GPathogenic
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MINK1
(I685L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MINK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ALOX15, ANKFY1
+48 more
Copy number loss
not provided
GUncertain significance
ABR, ALOX15
+115 more
Copy number gain
Chromosome 17P13.3, telomeric, duplication syndrome
GPathogenic
INCA1, SLC25A11
+18 more
Copy number gain
not provided
GUncertain significance
ARRB2, MINK1
+20 more
Copy number gain
not provided
GUncertain significance
CXCL16, SLC52A1
+36 more
Copy number gain
not provided
GUncertain significance
ABR, ACADVL
+240 more
Copy number gain
not provided
GPathogenic
ABR, ACADVL
+250 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
C17orf107, CHRNE
+14 more
Copy number loss
See cases
GUncertain significance
AIPL1, ALOX15
+115 more
Copy number gain
See cases
GPathogenic
C17orf107, CHRNE
+4 more
Copy number gain
See cases
GUncertain significance
CHRNE, MINK1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
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