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Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
ADPRH, ARHGAP31
+191 more
Copy number loss
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937275, LOC129937276
+286 more
Copy number loss
See cases
GPathogenic
LOC129937337, LOC129937338
+199 more
Copy number loss
See cases
GPathogenic
ADPRH, ARHGAP31
+101 more
Copy number gain
See cases
GUncertain significance
ADPRH, ARHGAP31
+100 more
Copy number gain
See cases
GUncertain significance
ADCY5, ADPRH
+326 more
Copy number loss
See cases
GPathogenic
LOC129937413, LOC129937414
+291 more
Copy number loss
See cases
GPathogenic
TIMMDC1
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex 1 deficiency, nuclear type 31
GUncertain significance
TIMMDC1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 31
GLikely pathogenic
TIMMDC1
(P4Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(S10I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(P20S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
(A25G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
TIMMDC1-related disorder
GLikely benign
TIMMDC1
(D31N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(E37del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TIMMDC1
(L42F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
(Y49C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(R57S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(R59W)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
TIMMDC1
(R59Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(K64fs)
Deletion
(frameshift variant)
Mitochondrial complex I deficiency, nuclear type 1
GLikely pathogenic
TIMMDC1
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 31
GLikely pathogenic
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TIMMDC1
(D73G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(A75P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(N76D)
Single nucleotide variant
(missense variant)
not provided
GBenign
TIMMDC1
(I77T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TIMMDC1
(C78R)
Single nucleotide variant
(missense variant)
not provided
GBenign
TIMMDC1
(T83I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(I87T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TIMMDC1
(A96V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(H99Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(A100T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(Y104H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(I112M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 31
GUncertain significance
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
(R129*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 31
+1 more
GPathogenic/Likely pathogenic
TIMMDC1
(F131L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(R133H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(Y134F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(R137H)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIMMDC1
Microsatellite
(intron variant)
not provided
GLikely benign
TIMMDC1
(N161D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TIMMDC1
(N161S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(A164G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
(A173G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(T175M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TIMMDC1
(F179C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(R180S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
TIMMDC1-related disorder
GLikely benign
TIMMDC1
(V183I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(R186H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(G192S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(I193T)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GUncertain significance
TIMMDC1
Deletion
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 31
GLikely pathogenic
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
TIMMDC1
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 31
+1 more
GBenign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
(T200A)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 31
+2 more
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
(V217I)
Single nucleotide variant
(missense variant)
not provided
GBenign
TIMMDC1
(R220G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(K221I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(Q222R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
(R225*)
Single nucleotide variant
(nonsense)
Leigh syndrome
GUncertain significance
TIMMDC1
(R225Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TIMMDC1
(H229R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIMMDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIMMDC1
(W236*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TIMMDC1
(W236L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TIMMDC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TIMMDC1
(H245R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TIMMDC1
(P247fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TIMMDC1
(P247S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(E248A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TIMMDC1
(K249E)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
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