U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM200A
(I210T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(R484W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(N456S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP7, ARG1
+13 more
Copy number loss
not provided
GUncertain significance
TMEM200A
(R221L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(Y58H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(R402Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AKAP7, AMD1
+87 more
Copy number gain
not specified
GLikely pathogenic
SAMD3, TMEM200A
Copy number loss
not provided
GUncertain significance
AHI1, AKAP7
+69 more
Copy number loss
not provided
GPathogenic
TMEM200A
(K176N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(S272C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
TMEM200A
(S19P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(P244S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(I305T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(L327P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(I450N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(S239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(H241Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(T209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(V341I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(S319T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(G271S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(L231F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(E191K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(T309A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(G376A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(F64L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(Q358H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM200A
(S384Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
ARG1, AKAP7
+15 more
Copy number loss
not provided
GLikely pathogenic
EPB41L2, FABP7
+73 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
AKAP7, ARHGAP18
+32 more
Copy number loss
See cases
GPathogenic
L3MBTL3, LOC126859785
+13 more
Copy number gain
See cases
GUncertain significance
AKAP7, ARG1
+127 more
Copy number loss
See cases
GLikely pathogenic
AKAP7, ARG1
+87 more
Copy number loss
See cases
GLikely pathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
EPB41L2, LOC121132707
+18 more
Copy number gain
See cases
GUncertain significance
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination