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Items: 34

  • The following term was not found in ClinVar: _content_hgnc_gene_symbol.
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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(R113C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LMNA
(R541C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
USH2A
Microsatellite
(splice donor variant)
USH2A-related disorder
+4 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
SOS1
(V171G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GConflicting classifications of pathogenicity
MSH6
(P1007fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
+3 more
GPathogenic/Likely pathogenic
LOC129935184, TTN
+1 more
(I32620L +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TTN, TTN-AS1
(I30854T +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
TTN, TTN-AS1
(I27848T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(V17537G +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC126806425, TTN
+1 more
(F17754L +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
MLH1
(R389Q +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
CCDC50
(A382T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WFS1
(R629Q)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(E2226K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC26A5
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
BRAF
(H574Y +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
EYA1
(S151L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRHL2
(M564L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CDH23
(P396Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNQ1
(V135fs +1 more)
Deletion
(frameshift variant)
Jervell and Lange-Nielsen syndrome
+3 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
+9 more
GPathogenic
MYO7A
(I1911fs +2 more)
Deletion
Rare genetic deafness
GPathogenic
BRCA2
(L1368fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
TSC2
(L91fs +4 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
GPathogenic
TBC1D24
(R526C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
MYO15A
(Y290C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRCA1
(N894fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(F650fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOXHD1
(T1314I +2 more)
Single nucleotide variant
(missense variant)
LOXHD1-related disorder
+3 more
GConflicting classifications of pathogenicity
LDLR
(Q254P +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
MYH14
(R1867C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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