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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MICOS10, MICOS10-NBL1
(Q6K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
MICOS10, MICOS10-NBL1
(T23S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MICOS10, MICOS10-NBL1
(I21T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MICOS10, MICOS10-NBL1
(D16G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MICOS10, MICOS10-NBL1
(A15V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MICOS10, MICOS10-NBL1
(P128T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129929576, MICOS10
+1 more
(E5A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
ACTL8, AKR7A2
+22 more
Copy number gain
not provided
GUncertain significance
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
MICOS10, MICOS10-NBL1
(K58Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129929576, MICOS10
+1 more
(E3K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AKR7A2, AKR7A3
+49 more
Duplication
Hyperprolinemia type 2
+2 more
GUncertain significance
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
ACTL8, AKR7A2
+38 more
Copy number loss
not provided
GPathogenic
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
AKR7A3, AKR7L
+51 more
Copy number loss
not provided
GPathogenic
TMCO4, CAPZB
+4 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
TMCO4, HTR6
+9 more
Copy number gain
See cases
GUncertain significance
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
AKR7A2, AKR7A3
+39 more
Copy number gain
See cases
GLikely benign
CAMK2N1, CDA
+81 more
Copy number loss
See cases
GUncertain significance
LOC126805640, LOC126805641
+206 more
Copy number loss
See cases
GPathogenic
AKR7A2, AKR7A3
+57 more
Copy number loss
See cases
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
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