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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(R203Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
FLNC
(G698S)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+6 more
GUncertain significance
MYBPC3
(R495Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
MYH7
(N1824S)
Single nucleotide variant
(missense variant)
See cases
+6 more
GUncertain significance
JUP
(K499N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DMD
(R3381* +8 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
(R2553* +6 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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