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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
ADGRA3, ANAPC4
+201 more
Copy number loss
See cases
GPathogenic
ANAPC4, CCDC149
+101 more
Copy number loss
See cases
GPathogenic
RBPJ
Single nucleotide variant
Type 2 diabetes mellitus
GBenign
LOC129992362, RBPJ
Deletion
(intron variant)
Schizophrenia
GUncertain significance
RBPJ
Single nucleotide variant
(genic upstream transcript variant)
Type 2 diabetes mellitus
GBenign
RBPJ
(G3R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
(M1L)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
RBPJ
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
RBPJ
(S7*)
Single nucleotide variant
(nonsense +2 more)
Adams-Oliver syndrome 3
GUncertain significance
RBPJ
(P12A)
Single nucleotide variant
(intron variant +2 more)
RBPJ-related disorder
GUncertain significance
RBPJ
(P13A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RBPJ
(P13S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Duplication
(intron variant)
not provided
GBenign
RBPJ
Deletion
(intron variant)
not provided
GBenign
RBPJ
Deletion
(intron variant)
not provided
GBenign
RBPJ
(G8V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RBPJ
(P13L +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RBPJ
(K14E +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RBPJ
(K16T +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RBPJ
(R15Q +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
RBPJ
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Deletion
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Duplication
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
LOC126807011, RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126807011, RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126807011, RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126807011, RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126807011, RBPJ
(R24Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126807011, RBPJ
(Q32R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126807011, RBPJ
(V13L +4 more)
Single nucleotide variant
(missense variant)
RBPJ-related disorder
GUncertain significance
LOC126807011, RBPJ
(V13I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126807011, RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126807011, RBPJ
(Q57E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
LOC126807011, RBPJ
(K23fs +4 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC126807011, RBPJ
(Y25C +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GUncertain significance
LOC126807011, RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126807011, RBPJ
(E63G +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GPathogenic
LOC126807011, RBPJ
(R65G +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
+1 more
GLikely pathogenic
LOC126807011, RBPJ
(R30T +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GLikely pathogenic
LOC126807011, RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Duplication
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Duplication
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
(F66V +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GLikely pathogenic
RBPJ
(M41T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBPJ
(K83E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBPJ
(R74C +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
(D77N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
(P86R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBPJ
(C65R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBPJ
(G104R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Deletion
(intron variant)
not provided
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GBenign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBPJ
Single nucleotide variant
(intron variant)
not provided
GBenign
RBPJ
(R121Q +4 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
GUncertain significance
RBPJ
(M132V +4 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
GUncertain significance
RBPJ
(G133V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBPJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBPJ
(D138V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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