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Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
CISD1, IPMK
+8 more
Copy number loss
See cases
GUncertain significance
TFAM
Single nucleotide variant
not provided
GLikely benign
TFAM
Single nucleotide variant
not provided
GBenign
TFAM
Single nucleotide variant
not provided
GLikely benign
TFAM
Single nucleotide variant
not provided
GBenign
TFAM
Single nucleotide variant
not provided
GBenign
TFAM
Single nucleotide variant
not provided
GBenign
TFAM
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TFAM
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TFAM
(L4V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TFAM
(V10L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(S12T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TFAM
(S17P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Microsatellite
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
TFAM-related disorder
GLikely benign
TFAM
(A47T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TFAM
(K62T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +1 more)
TFAM-related disorder
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TFAM
(D93G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
(S94A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Duplication
(intron variant)
not provided
GBenign
TFAM
(Q100E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(A105T)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
TFAM
(Q108E)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TFAM
(V109A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TFAM
(I126V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(H137R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(M143I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
(T144K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
(E148fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GLikely pathogenic
TFAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
(R159C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TFAM
(V164I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TFAM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TFAM
(P178L)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
GLikely pathogenic
TFAM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GBenign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TFAM
(K205E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
(E176K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TFAM
(T177S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +1 more)
TFAM-related disorder
GLikely benign
TFAM
(V193I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(L199P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
(R200C +1 more)
Single nucleotide variant
(missense variant +1 more)
Sensorineural hearing loss disorder
+1 more
GUncertain significance
TFAM
(R201C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TFAM
(R233H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFAM
(R207* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
TFAM
(C246G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TFAM
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ANK3, ARID5B
+15 more
Copy number loss
not specified
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ADO, ANK3
+18 more
Copy number loss
not provided
GUncertain significance
BICC1, TFAM
Copy number gain
not provided
GLikely benign
MTRNR2L5, TMEM26
+23 more
Copy number loss
not provided
GPathogenic
ANK3, PCDH15
+17 more
Copy number loss
not provided
GPathogenic
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
ANK3, BICC1
+10 more
Copy number gain
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CCDC6, ZNF32
+75 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
ANK3, ARID5B
+16 more
Copy number loss
See cases
GLikely pathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
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