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Links from MedGen

Items: 1 to 100 of 902

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(W626* +4 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2C
GLikely pathogenic
TRPV4
(S125Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(A40T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(S708L +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(L576P +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(R417L +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(K126del +1 more)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(L343P +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(A211S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(P548A +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(R76H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(T296I +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(T206S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(A343V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(Y405F +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GBenign
TRPV4
(R727H +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(F115Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(T546S +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(W630R +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(A331D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(N120del +1 more)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(D21N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(A30T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(R450fs +4 more)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(S560T +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(I519M +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(Q283fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(M582V +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Deletion
(nonsense)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(A631V +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(splice donor variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(L351P +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(R413G +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(P104H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(V230I +1 more)
Inversion
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(P551T +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(T505A +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(Y444* +4 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(P739Q +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(W725S +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(V178M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(E363Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(N411D +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(I83V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(I355V +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(C306Y +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GPathogenic
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(Y364* +2 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(G795A +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(K470N +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(G261R +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(Q107E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(D622G +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(P46S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2C
GLikely benign
TRPV4
(R124K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
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