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Links from Gene

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPRD1A
(Q215R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(K133R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(H260R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(R267H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(D172Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(S58G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(A7V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RPRD1A
(R49W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ASXL3, B4GALT6
+35 more
Copy number loss
not provided
GPathogenic
RPRD1A
(H301R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD1A
(N150S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
MOCOS, ELP2
+5 more
Copy number loss
not provided
GUncertain significance
AKAIN1, LIPG
+174 more
Deletion
Intellectual disability
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
AQP4, ASXL3
+35 more
Copy number loss
See cases
GPathogenic
ACAA2, ANKRD29
+97 more
Copy number gain
not provided
GPathogenic
C18orf21, ELP2
+7 more
Copy number gain
not provided
GUncertain significance
AQP4, ASXL3
+40 more
Copy number loss
not provided
GPathogenic
C18orf21, CELF4
+7 more
Copy number loss
not provided
GPathogenic
ASXL3, C18orf21
+22 more
Copy number loss
not provided
GPathogenic
C18orf21, GALNT1
+4 more
Copy number gain
not provided
GUncertain significance
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+150 more
Copy number gain
See cases
GPathogenic
ANKRD29, AQP4
+56 more
Copy number loss
See cases
GPathogenic
ARK2C, ARK2N
+62 more
Copy number gain
See cases
GLikely benign
ABHD3, ADCYAP1
+157 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+19 more
Copy number loss
See cases
GLikely pathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+142 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
ELP2, RPRD1A
+1 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
COSMOC, ELP2
+23 more
Copy number loss
See cases
GUncertain significance
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+84 more
Copy number loss
See cases
GLikely pathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC110120900, LOC110120940
+99 more
Copy number loss
See cases
GPathogenic
ASXL3, C18orf21
+129 more
Copy number loss
See cases
GPathogenic
C18orf21, CELF4
+75 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
ASXL3, B4GALT6
+146 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
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