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Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3GL3
(M257I +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SH3GL3
(D31N +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
SH3GL3
(G70E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BTBD1, SCARNA15
+11 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, ALPK3
+19 more
Copy number gain
not provided
GUncertain significance
SH3GL3
(D30G +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
SH3GL3
(I5T +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
SH3GL3
(N247D +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SH3GL3
(L154I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD2, ACAN
+86 more
Copy number gain
not provided
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
SH3GL3
(Q137L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH3GL3
(Y186C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH3GL3
(V46L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH3GL3
(A186V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH3GL3
(S229C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH3GL3
(V308L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ADAMTSL3, ALPK3
+19 more
Copy number loss
not provided
GPathogenic
SH3GL3
(G256E +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ADAMTSL3, SH3GL3
Copy number gain
not provided
GUncertain significance
ADAMTSL3, AP3B2
+12 more
Copy number loss
not provided
GPathogenic
SH3GL3
Copy number gain
not provided
GUncertain significance
ADAMTSL3, AP3B2
+14 more
Copy number gain
not provided
GUncertain significance
SH3GL3
Copy number gain
not provided
GUncertain significance
TM6SF1, WHAMM
+11 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+58 more
Copy number loss
not provided
GPathogenic
SH3GL3
Copy number loss
not provided
GUncertain significance
ABHD17C, ADAMTS7
+49 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ADAMTSL3, AP3B2
+11 more
Deletion
Primary amenorrhea
GLikely pathogenic
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, AP3B2
+12 more
Copy number gain
See cases
GUncertain significance
ADAMTSL3, AP3B2
+11 more
Copy number loss
See cases
GLikely pathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, AP3B2
+11 more
Copy number loss
Premature ovarian failure
GLikely pathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, LOC126862204
+24 more
Copy number gain
See cases
GLikely benign
LOC130057773, LOC130057774
+72 more
Copy number gain
See cases
GPathogenic
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