U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 496

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC130062208, LOC130062209
+322 more
Copy number gain
See cases
GPathogenic
LOC130062243, LOC130062244
+111 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+204 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130062254, MIB1
Duplication
(5 prime UTR variant)
not specified
GLikely benign
LOC130062254, MIB1
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC130062254, MIB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LOC130062254, MIB1
(S2G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130062254, MIB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130062254, MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130062254, MIB1
(R5Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(V14fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MIB1
(G13R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
(V14I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(A16S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MIB1
(P22L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
MIB1
(G37C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(G37R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
(E43*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130062255, MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130062255, MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130062255, MIB1
(Y60fs)
Deletion
(frameshift variant)
Left ventricular noncompaction 7
GLikely pathogenic
MIB1, LOC130062255
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC130062255, MIB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MIB1, LOC130062255
(Y66*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LOC130062255, MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
LOC130062255, MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
(S73G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MIB1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GBenign
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GBenign
MIB1
Single nucleotide variant
(intron variant)
not specified
GBenign
MIB1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
MIB1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MIB1
(M84I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(C85Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(C85W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MIB1
(R89C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MIB1
(P92R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(G95V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(W98*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
(C112Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(C112F)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 7
GUncertain significance
MIB1
(Y113C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MIB1
(H122L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(R123H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MIB1
(Y125H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(R126*)
Single nucleotide variant
(nonsense)
not specified
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
(T129A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MIB1
(P130S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MIB1
Single nucleotide variant
(intron variant)
not provided
GBenign
MIB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MIB1
Single nucleotide variant
(splice acceptor variant)
MIB1-related disorder
GUncertain significance
MIB1
(L136fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MIB1
(K145R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MIB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination