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Links from Gene

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM63
(E261*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(C23Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(T262I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(A321V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(A321T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(I102F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(D338A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(L135P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(Q300H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(H151Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(A244V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(K146fs)
Indel
(frameshift variant)
not provided
GUncertain significance
TRIM63
(V89M)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(P33A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(I286T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(L227S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(M14T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(H119Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(T77A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(C47Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(P38L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(Q93*)
Single nucleotide variant
(nonsense)
Idiopathic cardiomyopathy
GPathogenic
TRIM63
Single nucleotide variant
(synonymous variant)
TRIM63-related disorder
GLikely benign
TRIM63
Single nucleotide variant
(synonymous variant)
TRIM63-related disorder
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC122056803, TRIM63
Single nucleotide variant
(intron variant)
not specified
GLikely benign
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
TRIM63
Single nucleotide variant
(splice donor variant)
TRIM63-related disorder
GUncertain significance
TRIM63
(M84R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(P57R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM63
(L209V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM63
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TRIM63
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TRIM63
(R183H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(E126K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(T136M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(R74H)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TRIM63
(I322T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(A289V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRIM63
(V197L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(D50Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(V184G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARID1A, AUNIP
+33 more
Duplication
Retinitis pigmentosa 59
GUncertain significance
TRIM63
(R62W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(Q190K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(R79C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRIM63
(D50G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(P113L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM63
(V178L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(R230W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
(R62Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRIM63
(R196Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRIM63
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(R112Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(S143P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
ARID1A, CATSPER4
+18 more
Copy number gain
not provided
GUncertain significance
TRIM63
(K297fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TRIM63
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
TRIM63
(H203Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM63
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM63
(T215M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIM63
Deletion
(intron variant)
not specified
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Deletion
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
not provided
GBenign
LOC122056803, TRIM63
Insertion
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
not provided
GBenign
TRIM63
(K237E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM63
(C39G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
AUNIP, CATSPER4
+22 more
Deletion
Hypercholesterolemia, familial, 4
GPathogenic
TRIM63
(S161fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
TRIM63
(I130M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIM63
(R74C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TRIM63
(E269K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIM63
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TRIM63
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TRIM63
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
TRIM63
(I132T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
TRIM63
(S69F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM63
(Q247*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
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