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Items: 1 to 100 of 309

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+498 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
APOB, APOB-ICR
+131 more
Copy number loss
See cases
GPathogenic
LINC00954, LOC105373461
+8 more
Copy number gain
See cases
GLikely benign
WDR35, MATN3
(Q18R)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+6 more
GBenign/Likely benign
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35
+1 more
Single nucleotide variant
(3 prime UTR variant)
Multiple Epiphyseal Dysplasia, Dominant
+4 more
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
(R486C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MATN3, WDR35-DT
(E480V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR35-DT, MATN3
(D471A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MATN3, WDR35
+1 more
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
MATN3, WDR35-DT
Microsatellite
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(L465R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MATN3, WDR35-DT
(S460L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(V458D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(A453T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MATN3, WDR35-DT
(A445G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MATN3, WDR35-DT
(E443K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(T442A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(L439I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(R437Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MATN3, WDR35-DT
(R437*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GBenign
MATN3, WDR35-DT
Deletion
(splice donor variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(C430W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(T429A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(S407G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(S398T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(D392E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(R391H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MATN3, WDR35-DT
(R391C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Duplication
Multiple epiphyseal dysplasia type 5
GPathogenic
WDR35-DT, MATN3
Duplication
(splice acceptor variant +1 more)
Multiple epiphyseal dysplasia type 5
GLikely pathogenic
MATN3, WDR35-DT
Deletion
(intron variant)
not provided
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(E374D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(H372D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MATN3, WDR35-DT
(H372N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
(G369R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(D366Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MATN3, WDR35-DT
(I362T)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 5
GUncertain significance
MATN3, WDR35-DT
(H361Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MATN3, WDR35-DT
(H361N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(G358R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GBenign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
MATN3-related disorder
GLikely benign
MATN3, WDR35-DT
(N340D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(L339M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(Y337fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(G336S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(C321S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
(G316R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MATN3, WDR35-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MATN3, WDR35-DT
Microsatellite
(intron variant)
not provided
GBenign
MATN3, WDR35-DT
Microsatellite
(intron variant)
not provided
GBenign

Items: 1 to 100 of 309

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