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Links from Gene

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COPB2-DT, RBP2
(K22R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(R31H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(I26T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(T8I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(E73K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFDP2, TRIM42
+26 more
Deletion
not provided
GPathogenic
COPB2-DT, RBP2
(D4E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(T40M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(N16H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(R59H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPB2-DT, RBP2
(R36H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COPB2-DT, RBP2
(R81Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
A4GNT, ARMC8
+17 more
Duplication
not provided
GUncertain significance
CLSTN2, NMNAT3
+2 more
Copy number gain
not provided
GUncertain significance
PLOD2, PLS1
+115 more
Copy number gain
Global developmental delay
GPathogenic
PRR23C, CLSTN2
+18 more
Copy number loss
not provided
GPathogenic
AADAC, AADACL2
+115 more
Copy number gain
See cases
GPathogenic
RBP1, NMNAT3
+2 more
Copy number gain
not provided
GUncertain significance
A4GNT, ARMC8
+31 more
Copy number gain
not provided
GUncertain significance
CLSTN2, NMNAT3
+2 more
Copy number gain
not provided
GUncertain significance
A4GNT, ARMC8
+54 more
Copy number gain
not provided
GPathogenic
MRAS, PRR23A
+16 more
Copy number gain
not provided
GUncertain significance
CLSTN2, NMNAT3
+2 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ARMC8, ZBTB38
+36 more
Copy number gain
See cases
GLikely pathogenic
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
CLSTN2, COPB2-DT
+12 more
Copy number gain
See cases
GUncertain significance
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+167 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+155 more
Copy number loss
See cases
GPathogenic
CLSTN2, COPB2-DT
+12 more
Copy number gain
See cases
GUncertain significance
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
BPESC1, CLSTN2
+39 more
Copy number gain
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
A4GNT, ARMC8
+171 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
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