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Links from Gene

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT1X
(K56M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
AMFR, ARL2BP
+24 more
Deletion
not provided
GPathogenic
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
MT1X
Single nucleotide variant
(intron variant)
MT1X-related disorder
GLikely benign
MT1X
(K22E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG1, ADGRG3
+54 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
MT1X
(C7S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MT1X
(C44S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERPUD1, IRX3
+99 more
Copy number gain
not provided
GPathogenic
IRX5, IRX6
+189 more
Deletion
not provided
GPathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
ADGRG1, ADGRG3
+68 more
Copy number gain
not provided
GUncertain significance
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC11, ABCC12
+100 more
Copy number gain
See cases
GPathogenic
BBS2, CETP
+17 more
Copy number gain
See cases
GUncertain significance
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
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