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Links from Gene

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINB10
(K339R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(S31F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(S85L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(A12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(N330S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(A314T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(P216Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(H195Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(Q161E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(A113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(L394F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SERPINB10
(F378L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(R364I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADNP2, ALPK2
+72 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+90 more
Copy number loss
not specified
GPathogenic
BCL2, CBLN2
+30 more
Copy number gain
not specified
GLikely pathogenic
ADNP2, ATP9B
+51 more
Copy number loss
not provided
GPathogenic
SERPINB10
(S326F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(M181I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(N84S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(N371S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SERPINB10
(S245N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SERPINB10
(V184G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADNP2, ALPK2
+80 more
Copy number loss
not provided
GPathogenic
CDH19, CDH7
+4 more
Copy number loss
not provided
GUncertain significance
ADNP2, ATP9B
+41 more
Copy number loss
not provided
GPathogenic
ADNP2, ATP9B
+45 more
Copy number loss
Deletion of long arm of chromosome 18
GPathogenic
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
LOC126862831, LOC130062709
+430 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
FBXO15, SLC66A2
+57 more
Copy number loss
not specified
GPathogenic
PHLPP1, PIGN
+58 more
Copy number loss
not specified
GPathogenic
SERPINB3, ZCCHC2
+81 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ALPK2, ATP8B1
+52 more
Copy number loss
not specified
GPathogenic
MAPK4, MBD1
+101 more
Copy number loss
not specified
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
BCL2, HMSD
+17 more
Duplication
Multiple congenital anomalies-hypotonia-seizures syndrome 1
GUncertain significance
PHLPP1, PIGN
+17 more
Deletion
not provided
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
LMAN1, MALT1
+80 more
Copy number loss
not provided
GPathogenic
PARD6G, PHLPP1
+85 more
Copy number gain
Global developmental delay
GPathogenic
TXNL4A, CYB5A
+53 more
Copy number loss
not provided
GPathogenic
ZNF236, CYB5A
+66 more
Copy number loss
not provided
GPathogenic
PHLPP1, MC4R
+72 more
Copy number loss
not provided
GPathogenic
BOD1L2, SALL3
+90 more
Copy number loss
not provided
GPathogenic
HMSD, SERPINB10
+4 more
Copy number loss
not provided
GUncertain significance
ADNP2, ATP9B
+59 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
ACAA2, ADNP2
+107 more
Copy number loss
not provided
GPathogenic
PMAIP1, GALR1
+72 more
Copy number loss
not provided
GPathogenic
DIPK1C, SLC66A2
+64 more
Copy number loss
not provided
GPathogenic
CDH7, DOK6
+55 more
Copy number loss
not provided
GPathogenic
ZNF236, TIMM21
+52 more
Copy number loss
not provided
GPathogenic
CDH19, CDH7
+4 more
Copy number loss
not provided
GUncertain significance
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+90 more
Copy number loss
See cases
GLikely pathogenic
LINC01879, LMAN1
+101 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+150 more
Copy number gain
See cases
GPathogenic
TMX3, TNFRSF11A
+128 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+121 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+79 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+56 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+55 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+58 more
Copy number loss
See cases
GPathogenic
ACAA2, ADNP2
+142 more
Copy number gain
See cases
GPathogenic
WDR7, ZCCHC2
+109 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+57 more
Copy number loss
not provided
GLikely pathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
SOCS6, SERPINB10
+58 more
Copy number gain
See cases
GPathogenic
CDH19, CDH7
+29 more
Copy number loss
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
CDH7, HMSD
+5 more
Complex
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
LOC132090499, LOC132090500
+200 more
Copy number gain
See cases
GLikely pathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
CDH19, CDH7
+21 more
Copy number loss
See cases
GUncertain significance
ADNP2, ATP9B
+429 more
Copy number loss
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
BCL2, HMSD
+56 more
Copy number gain
See cases
GUncertain significance
SERPINB13, SERPINB2
+436 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
LOC112543433, LOC116276492
+320 more
Copy number loss
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC130062592, LOC130062593
+602 more
Copy number loss
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+347 more
Copy number loss
See cases
GPathogenic
LOC130062750, LOC130062751
+430 more
Copy number loss
See cases
GPathogenic
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