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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+422 more
Copy number gain
See cases
GLikely pathogenic
ACOT11, ALG6
+280 more
Copy number loss
See cases
GPathogenic
LOC111501769, LOC112590812
+339 more
Copy number loss
See cases
GPathogenic
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+276 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
DEPDC1, DEPDC1-AS1
+270 more
Copy number loss
See cases
GPathogenic
C1orf87, CYP2J2
+32 more
Copy number loss
See cases
GUncertain significance
LOC122094841, LOC122094842
+253 more
Copy number loss
See cases
GPathogenic
LOC111501769, LOC121725026
+43 more
Copy number loss
Brain malformations with or without urinary tract defects
GPathogenic
LOC110121050, LOC110121108
+14 more
Copy number gain
See cases
GBenign
ANGPTL3, ATG4C
+44 more
Copy number gain
See cases
GUncertain significance
TM2D1
(T188I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(I182F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(L148V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(A126T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(I111M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(T74A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM2D1
(T67M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(K52E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(E49G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(G41A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(W33G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(V26L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(G21V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(V20I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(P12A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(S10F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126805746, TM2D1
(P9S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AK4, ALG6
+32 more
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
ALG6, ANGPTL3
+16 more
Copy number loss
not specified
GPathogenic
AK4, ALG6
+32 more
Deletion
not provided
GPathogenic
NFIA, PATJ
+1 more
Copy number gain
not provided
GUncertain significance
L1TD1, LDLRAD1
+67 more
Copy number loss
Chromosome 1p32-p31 deletion syndrome
GPathogenic
ROR1, RPE65
+53 more
Deletion
Intellectual disability, severe
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
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