U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(P692L +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+6 more
GPathogenic
TRPV4
(E690K +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+4 more
GPathogenic
TRPV4
(R746C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TRPV4
(S319L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination