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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935184, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
LOC129935184, TTN
+1 more
(Y26242C +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+5 more
GUncertain significance
LOC129935184, TTN
+1 more
(V35177M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
LOC129935184, TTN
+1 more
(R26109C +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC129935184, TTN
+1 more
(T33530I +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
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