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Links from Gene

Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPT2
(A135V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(G35D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2
(P140S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(R28Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2
(V205M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(E18Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2
(I155V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(L103R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(R81C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(A46T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(P39S)
Single nucleotide variant
(non-coding transcript variant +1 more)
LIPT2-related disorder
GLikely benign
LIPT2
Single nucleotide variant
(synonymous variant +1 more)
LIPT2-related disorder
GLikely benign
LIPT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
LIPT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2
(S116L +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARAP1, ARAP1-AS2
+25 more
Copy number loss
not provided
GUncertain significance
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
LIPT2, LIPT2-AS1
(P101L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(C50S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(D104H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2
(H177Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(M1L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
GLikely pathogenic
LIPT2
(N231T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2
(G109A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LIPT2, LIPT2-AS1
(Q96H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
GUncertain significance
ANAPC15, ARAP1
+63 more
Duplication
3-methylglutaconic aciduria, type VIIB
GUncertain significance
LIPT2, LIPT2-AS1
(Q31R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2
(R125L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2
(V116L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(P101S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(P4L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPT2
(T223I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
(G93S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2
(S229N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(V14E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(R158C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(P15S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(L88R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(R2Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
(A75T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(E18K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(L105V)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LIPT2
(Q203R +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2
(Q133E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2
(R159S)
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
Deletion
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(P67R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(R125C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(L126fs)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
LIPT2
(G156R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(D148E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(R10L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2
(D149H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(A96P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2
(R111C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(Q31H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(A32G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(P15L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
Deletion
not provided
GUncertain significance
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
(G84A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
LIPT2
(E207V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2
(P139S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GLikely benign
LIPT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPT2, LIPT2-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GBenign/Likely benign
LIPT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPT2
(G131D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(E207K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(E68K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(K197Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(W200S +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LIPT2
(A121V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LIPT2, LIPT2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
LIPT2
(V203I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2
(S196T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(P94S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(L30V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
LIPT2, LIPT2-AS1
(V6L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(I182M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(R85C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
(E33K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(Q130H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
Insertion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2, LIPT2-AS1
+1 more
(T58A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPT2
(T90A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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