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Items: 1 to 100 of 366

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+448 more
Copy number gain
See cases
GPathogenic
LOC129999850, LOC129999851
+1038 more
Copy number gain
See cases
GPathogenic
LOC126860345, LOC126860346
+1103 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+687 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+471 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000150, LOC130000151
+996 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+736 more
Copy number gain
See cases
GPathogenic
DMTN, DOK2
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
MIR4660, MIR548H4
+773 more
Copy number loss
See cases
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
DUSP4, EBF2
+1018 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+694 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+935 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000086, LOC130000087
+932 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+663 more
Copy number gain
See cases
GPathogenic
LOC121331299, LOC121331300
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+927 more
Copy number gain
See cases
GPathogenic
LOC130000305, LOC130000306
+927 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+703 more
Copy number gain
See cases
GPathogenic
LOC130000069, LOC130000070
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+816 more
Copy number gain
See cases
GPathogenic
LOC130000275, LOC130000276
+927 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+651 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC101929258, LOC101929470
+920 more
Copy number gain
See cases
GPathogenic
LOC113788273, LOC113788274
+805 more
Copy number gain
See cases
GPathogenic
LOC129999948, LOC129999949
+855 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+920 more
Copy number gain
See cases
GPathogenic
LOC130000249, LOC130000250
+789 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+144 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+140 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
LOC129389958, MSR1
+1 more
Copy number gain
See cases
GUncertain significance
TUSC3
Deletion
Normal pregnancy
Gnot provided
TUSC3
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GLikely benign
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Microsatellite
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Microsatellite
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GLikely benign
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GLikely benign
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GLikely benign
TUSC3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
TUSC3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
Single nucleotide variant
(synonymous variant +3 more)
TUSC3-related disorder
GLikely benign
TUSC3
(A6V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
(P7S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
(S8L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TUSC3
(R9G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
+2 more
GUncertain significance
TUSC3
(R9L)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
TUSC3
(R11G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
(A13V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
+3 more
GUncertain significance
TUSC3
(R15Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
+1 more
GUncertain significance
TUSC3
(R15P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TUSC3
(R18Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
(Y19fs)
Indel
(frameshift variant)
Intellectual disability, autosomal recessive 7
GLikely pathogenic
TUSC3
(P21R)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
TUSC3
(G23R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
(L29F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 7
+2 more
GBenign/Likely benign
TUSC3
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
TUSC3
Single nucleotide variant
(synonymous variant +3 more)
Intellectual disability, autosomal recessive 7
GLikely benign
TUSC3
Single nucleotide variant
(synonymous variant +3 more)
Intellectual disability, autosomal recessive 7
GLikely benign
TUSC3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUSC3
(G41fs)
Duplication
(frameshift variant +3 more)
Intellectual disability, autosomal recessive 7
GLikely pathogenic
TUSC3
(G39R)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
TUSC3
(G39V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 7
GUncertain significance
TUSC3
(G39A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TUSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
TUSC3
Single nucleotide variant
(intron variant)
not provided
GBenign
TUSC3
Copy number loss
See cases
GBenign
TUSC3
Copy number loss
See cases
GBenign
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