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 699

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
HNF1A, HNF1A-AS1
+786 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
AACS, ADGRD1
+412 more
Copy number gain
See cases
GPathogenic
AACS, ADGRD1
+408 more
Copy number gain
See cases
GPathogenic
ATP6V0A2, CCDC92
+31 more
Copy number gain
See cases
GUncertain significance
ATP6V0A2, EIF2B1
+6 more
Duplication
not provided
GUncertain significance
ATP6V0A2, TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+5 more
GBenign/Likely benign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+5 more
GConflicting classifications of pathogenicity
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+3 more
GBenign/Likely benign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 8
+3 more
GBenign
ATP6V0A2, TCTN2
Insertion
(3 prime UTR variant)
Cutis laxa, recessive
+3 more
GBenign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+2 more
GBenign/Likely benign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+2 more
GBenign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GBenign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Microsatellite
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2
Single nucleotide variant
not provided
GBenign
ATP6V0A2, LOC130009117
Single nucleotide variant
not provided
GBenign
ATP6V0A2, LOC130009117
Single nucleotide variant
not provided
GLikely benign
ATP6V0A2, LOC130009117
Deletion
not provided
GBenign
ATP6V0A2, LOC130009117
Single nucleotide variant
Cutis laxa, recessive
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
not provided
+1 more
GLikely benign
ATP6V0A2, LOC130009117
+1 more
Single nucleotide variant
Meckel-Gruber syndrome
+3 more
GBenign/Likely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa, recessive
+1 more
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa with osteodystrophy
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2, LOC130009117
+1 more
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa, recessive
+4 more
GBenign/Likely benign
ATP6V0A2, LOC130009117
(R6fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
GLikely pathogenic
ATP6V0A2, LOC130009117
(R6Q)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
(S7G)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
GUncertain significance
ATP6V0A2, LOC130009117
(T9I)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+3 more
GUncertain significance
ATP6V0A2, LOC130009117
(M10V)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+3 more
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
(L12V)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
(A22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
(S27fs)
Duplication
(frameshift variant)
Cutis laxa
+2 more
GPathogenic/Likely pathogenic
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
(G30D)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Deletion
(splice donor variant)
ALG9 congenital disorder of glycosylation
GLikely pathogenic
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
+1 more
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
+2 more
GBenign
ATP6V0A2, LOC130009117
Microsatellite
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Indel
(intron variant)
not specified
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2, LOC130009117
Insertion
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2
Deletion
(intron variant)
ALG9 congenital disorder of glycosylation
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2
Deletion
(intron variant)
ALG9 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2
Single nucleotide variant
(splice acceptor variant)
ALG9 congenital disorder of glycosylation
GLikely pathogenic
ATP6V0A2
(N43S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V0A2
(R57T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ATP6V0A2-related disorder
GLikely benign
ATP6V0A2
(R63*)
Single nucleotide variant
(nonsense)
Alpha-1-antitrypsin deficiency
+2 more
GPathogenic
ATP6V0A2
(R63Q)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
GUncertain significance
ATP6V0A2
(L65fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
GLikely benign
ATP6V0A2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATP6V0A2
Duplication
(intron variant)
not provided
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination