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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
MEAF6
(R171Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEAF6
(Q137R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEAF6
(K91R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEAF6
(S71C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129930155, MEAF6
(P9S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129930155, MEAF6
(M3V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129930155, MEAF6
(A2V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADPRS, AGO1
+37 more
Copy number loss
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
AIRIM, C1orf122
+16 more
Copy number gain
See cases
GLikely benign
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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