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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
HDAC11, LOC126806611
+244 more
Deletion
3p- syndrome
GPathogenic
LOC132088880, LOC132088882
+214 more
Copy number gain
See cases
GPathogenic
SLC6A6
(G124A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(P140L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(D150N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC6A6
(A78E +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal degeneration
GLikely pathogenic
SLC6A6
(E114K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(V128I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC6A6
(I130T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R278H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(I186M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(S289Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(V340I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(S241C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(A373T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
SLC6A6
(I460V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC6A6
(A471V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(G500V +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal degeneration
GLikely pathogenic
SLC6A6
(I438L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(M452R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(M495V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R600W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(A509T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(V525I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(V528I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(P539R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R587H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R693H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(P698L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R601G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(R601H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(V704I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(N605S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC6A6
(G707S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
ANKRD28, BTD
+41 more
Copy number gain
See cases
GPathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+112 more
Copy number gain
not specified
GPathogenic
SLC6A6
Duplication
Megacolon
GLikely pathogenic
SLC6A6, GRIP2
Copy number gain
not provided
GLikely benign
ANKRD28, ARL8B
+84 more
Copy number gain
not provided
GPathogenic
ANKRD28, ARL8B
+98 more
Copy number gain
not provided
GPathogenic
ANKRD28, BTD
+27 more
Copy number loss
See cases
GLikely pathogenic
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
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