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Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
LOC129662434, LOC130001682
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
TPM2
(T277A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPM2
(Q276E)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+2 more
GUncertain significance
TPM2
(T259S)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
GUncertain significance
TPM2
Single nucleotide variant
(splice acceptor variant)
Congenital myopathy 23
GLikely pathogenic
TPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
TPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
TPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
TPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arthrogryposis, distal, type 1A
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arthrogryposis, distal, type 1A
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myopathy 23
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myopathy 23
+1 more
GConflicting classifications of pathogenicity
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myopathy 23
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
TPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
TPM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TPM2
(N279fs)
Duplication
(frameshift variant +1 more)
TPM2-related disorder
GLikely pathogenic
TPM2
(L278F)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
(A277V)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
(A277T)
Single nucleotide variant
(intron variant +1 more)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
Single nucleotide variant
(synonymous variant +1 more)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myopathy 23
+1 more
GBenign/Likely benign
TPM2
(A262S)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 23
GUncertain significance
TPM2
(Y261C)
Single nucleotide variant
(missense variant +1 more)
TPM2-related myopathy
+3 more
GPathogenic/Likely pathogenic
TPM2
(Y261H)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
(D258V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TPM2
Insertion
(intron variant)
not specified
GUncertain significance
TPM2
Duplication
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TPM2
Duplication
(intron variant)
not specified
+3 more
GBenign/Likely benign
TPM2
Duplication
(intron variant)
not provided
+4 more
GBenign/Likely benign
TPM2
Insertion
(intron variant)
Arthrogryposis multiplex congenita
+3 more
GBenign/Likely benign
TPM2
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPM2
Single nucleotide variant
(intron variant)
Congenital myopathy 23
+1 more
GUncertain significance
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Congenital myopathy 23
GUncertain significance
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Insertion
(intron variant)
TPM2-related disorder
GLikely benign
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Insertion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Insertion
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Duplication
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
TPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPM2
(D254N)
Single nucleotide variant
(missense variant)
Congenital myopathy 23
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TPM2
(I253V)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
(T252I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPM2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
(K248M)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+1 more
GUncertain significance
TPM2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
(E243K)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TPM2
(A242D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPM2
(E240G)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
GUncertain significance
TPM2
(R238L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPM2
(R238*)
Single nucleotide variant
(nonsense)
TPM2-related disorder
GUncertain significance
TPM2
Duplication
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1A
GLikely benign
TPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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