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Links from Gene

Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL5
(R304H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R142H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(P322S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G152S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(P84L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(W254R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(A333T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R320M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R311P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R302W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(P290A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R273Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(C91S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R60Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(P5T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTSL5
(G459S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R406G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(S401L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R392C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R398C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(A375S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ADAMTSL5
(R467W +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADAMTSL5
(P151S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G174C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R64W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R234G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R53C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R325Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R58H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R104S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R56H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R302Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABHD17A, ADAMTSL5
+80 more
Duplication
not provided
GUncertain significance
C19orf25, CSNK1G2
+35 more
Duplication
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
ADAMTSL5, APC2
+20 more
Deletion
Cerebral creatine deficiency syndrome
GPathogenic
ADAMTSL5
(R311C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(E77K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R63H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(A346V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(Q288K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G368S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R325W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(P70L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTSL5
(V40A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G256S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(E37K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(E295K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R70W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G141S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G481S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTSL5
(P335A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R114C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(M232I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(R114H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTSL5
(V30F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(Y238C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(A200T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5
(G234D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTSL5, APC2
+13 more
Copy number loss
not provided
GUncertain significance
ABCA7, ABHD17A
+77 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+138 more
Copy number gain
See cases
GPathogenic
MKNK2, MOB3A
+43 more
Copy number gain
not provided
GLikely pathogenic
ADAMTSL5, PLEKHJ1
+106 more
Copy number gain
not provided
GPathogenic
ABCA7, ABHD17A
+147 more
Copy number gain
not provided
GPathogenic
ADAMTSL5, APC2
+17 more
Copy number gain
not provided
GUncertain significance
AP3D1, SPPL2B
+64 more
Duplication
Neurodevelopmental disorder
GUncertain significance
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+67 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ABHD17A
+87 more
Copy number gain
See cases
GPathogenic
ADAMTSL5
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
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