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Items: 1 to 100 of 260

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
ADGRB1, ARC
+140 more
Copy number loss
See cases
GPathogenic
TOP1MT
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
TOP1MT
Deletion
(inframe_indel)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP1MT
(A593T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R487Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TOP1MT
(R585W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(Q584P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R473Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(C471Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GBenign
TOP1MT
Deletion
(intron variant)
not provided
GBenign
TOP1MT
(A469T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
(T456R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
(Q533* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOP1MT
(E430D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R427W +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GBenign
TOP1MT
(H410R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(E507V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R407S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(A406V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TOP1MT
(L501P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP1MT
(L483P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(S381L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TOP1MT
(T475M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(S376N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOP1MT
(T472I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(R470* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOP1MT
(R457Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(R359P +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
TOP1MT
(R359G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(R359* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOP1MT
(E445K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Inversion
(intron variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TOP1MT
(R443H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
(R439Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP1MT
(R328Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R426W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(A324V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(H314Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP1MT
(P298T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(M391V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TOP1MT
(P378Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(N277K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R274H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(R274P +1 more)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
+1 more
GUncertain significance
TOP1MT
(G269W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(F365V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP1MT
(F265Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
(V361L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP1MT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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