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Links from Gene

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMTOR1, LRTOMT
(Q117H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMTOR1, LRTOMT
(P109L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
LAMTOR1, LRTOMT
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
LAMTOR1, LRTOMT
(N64I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMTOR1, LRTOMT
(L33V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANAPC15, ARAP1
+63 more
Duplication
3-methylglutaconic aciduria, type VIIB
GUncertain significance
LAMTOR1, LRTOMT
(N39I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMTOR1, LRTOMT
(R19Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMTOR1, LRTOMT
(E18A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LAMTOR1, LRTOMT
(P25S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANAPC15, CLPB
+8 more
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ANAPC15, ARAP1
+15 more
Copy number loss
not specified
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ANAPC15, DEFB108B
+16 more
Duplication
Cerebral folate transport deficiency
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
ACTE1P, ANAPC15
+67 more
Copy number gain
See cases
GUncertain significance
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