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Links from Gene

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXNDC9
(S182F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(F102L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(R46C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTR1B, ADRA2B
+64 more
Copy number gain
not provided
GLikely pathogenic
TXNDC9
(H118Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(R56K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TXNDC9
(K130E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(L164V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(T213P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TXNDC9
(R46H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EIF5B, LYG1
+2 more
Copy number loss
not provided
GUncertain significance
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
LYG2, TXNDC9
+8 more
Copy number gain
not provided
GUncertain significance
AFF3, LYG1
+4 more
Copy number gain
not provided
GUncertain significance
AFF3, C2orf15
+10 more
Copy number loss
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
AFF3, ADRA2B
+53 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
AFF3, C2orf15
+114 more
Copy number loss
See cases
GLikely pathogenic
AFF3, CHST10
+69 more
Copy number gain
See cases
GUncertain significance
AFF3, C2orf15
+56 more
Copy number loss
See cases
GPathogenic
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
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