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Links from Gene

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CMTM3, CMTM4
(S179L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
+1 more
(E48D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
(T167P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
CMTM3, CMTM4
+1 more
(R28C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
+1 more
(P14T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
B3GNT9, BEAN1
+30 more
Copy number gain
not provided
GUncertain significance
CMTM3, CMTM4
(Y124C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
+1 more
(A29T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
B3GNT9, BEAN1
+25 more
Deletion
not provided
GPathogenic
CYB5B, DDX19A
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
CMTM3, CMTM4
(I141T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
(A61V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMTM3, CMTM4
(I118V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
EXOC3L1, ESRP2
+95 more
Copy number loss
not provided
GPathogenic
CKLF-CMTM1, CMTM4
+10 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
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
B3GNT9, CA7
+35 more
Copy number gain
See cases
GUncertain significance
AARS1, ACD
+292 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
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
ATP6V0D1, B3GNT9
+113 more
Copy number loss
See cases
GPathogenic
ACD, AGRP
+217 more
Copy number loss
See cases
GPathogenic
ACD, AGRP
+176 more
Copy number loss
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
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