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Links from Gene

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB5A
(P124A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB5A
(N155K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB5A
(I83V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
RAB5A
(M160L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
RAB5A
(G118E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB5A
(L64F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB5A
(A109T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB5A
(N111D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB5A
(A6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB5A
(N125S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD28, BTD
+41 more
Copy number gain
See cases
GPathogenic
HDAC11, LOC126806611
+244 more
Deletion
3p- syndrome
GPathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+112 more
Copy number gain
not specified
GPathogenic
ACAA1, ACVR2B
+93 more
Deletion
not provided
GPathogenic
PP2D1, RAB5A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PP2D1, RAB5A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EFHB, KAT2B
+3 more
Copy number gain
not provided
GUncertain significance
EFHB, KAT2B
+15 more
Copy number loss
not provided
GPathogenic
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
LOC132088880, LOC132088882
+214 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
EFHB, KAT2B
+53 more
Copy number loss
See cases
GUncertain significance
EFHB, KAT2B
+115 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
BALR6, EFHB
+39 more
Copy number gain
See cases
GUncertain significance
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
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