ClinVar for MedGen (Select 342947) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068144	NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)	TRPV4 (W626* +4 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2C	GLikely pathogenic
Select item 3065779	NM_021625.5(TRPV4):c.476C>A (p.Ser159Tyr)	TRPV4 (S125Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3022933	NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)	TRPV4 (A40T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3020973	NM_021625.5(TRPV4):c.853+12C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3018146	NM_021625.5(TRPV4):c.2209-13_2209-5dup	TRPV4	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3017967	NM_021625.5(TRPV4):c.1084C>T (p.Leu362=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3017953	NM_021625.5(TRPV4):c.1425G>A (p.Val475=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3017388	NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)	TRPV4 (S708L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3016335	NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)	TRPV4 (L576P +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3016307	NM_021625.5(TRPV4):c.559+10C>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3015318	NM_021625.5(TRPV4):c.2336+7C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3012787	NM_021625.5(TRPV4):c.2163A>G (p.Thr721=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3003505	NM_021625.5(TRPV4):c.1797G>A (p.Thr599=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 3002739	NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)	TRPV4 (R417L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2986575	NM_021625.5(TRPV4):c.51G>A (p.Glu17=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2984440	NM_021625.5(TRPV4):c.1005C>T (p.Thr335=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2981019	NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)	TRPV4 (K126del +1 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2976316	NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)	TRPV4 (L343P +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2974073	NM_021625.5(TRPV4):c.351C>T (p.Ser117=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2964128	NM_021625.5(TRPV4):c.675G>A (p.Glu225=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2963333	NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)	TRPV4 (A211S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2960786	NM_021625.5(TRPV4):c.27C>T (p.Arg9=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2959880	NM_021625.5(TRPV4):c.1941G>A (p.Glu647=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2957299	NM_021625.5(TRPV4):c.1658+1G>A	TRPV4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2919788	NM_021625.5(TRPV4):c.969A>C (p.Thr323=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2915836	NM_021625.5(TRPV4):c.495C>T (p.Asp165=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2915216	NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)	TRPV4 (P548A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2914254	NM_021625.5(TRPV4):c.2169C>T (p.Gly723=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2914152	NM_021625.5(TRPV4):c.227G>A (p.Arg76His)	TRPV4 (R76H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2912873	NM_021625.5(TRPV4):c.2337-15C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2912198	NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)	TRPV4 (T296I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2906710	NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)	TRPV4 (T206S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2906690	NM_021625.5(TRPV4):c.1269C>T (p.Ser423=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2902942	NM_021625.5(TRPV4):c.1825-14G>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2900530	NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)	TRPV4 (A343V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2898257	NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)	TRPV4 (Y405F +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2897800	NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2892667	NM_021625.5(TRPV4):c.1008T>G (p.Arg336=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2891910	NM_021625.5(TRPV4):c.1585-14dup	TRPV4	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GBenign
Select item 2889059	NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)	TRPV4 (R727H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2888886	NM_021625.5(TRPV4):c.249C>T (p.Ile83=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2876413	NM_021625.5(TRPV4):c.1932G>A (p.Val644=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2870400	NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)	TRPV4 (F115Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2865098	NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)	TRPV4 (T546S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2864150	NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)	TRPV4 (W630R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2862958	NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)	TRPV4 (A331D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2862427	NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)	TRPV4 (N120del +1 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2861245	NM_021625.5(TRPV4):c.228C>T (p.Arg76=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2861092	NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)	TRPV4 (D21N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2858777	NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2856982	NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)	TRPV4 (A30T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2856926	NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)	TRPV4 (R450fs +4 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2856570	NM_021625.5(TRPV4):c.897C>T (p.His299=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2845801	NM_021625.5(TRPV4):c.1140G>A (p.Thr380=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2845465	NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)	TRPV4 (S560T +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2844675	NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)	TRPV4 (I519M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2844591	NM_021625.5(TRPV4):c.949del (p.Gln317fs)	TRPV4 (Q283fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2844148	NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)	TRPV4 (M582V +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2841803	NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)	TRPV4	Deletion (nonsense)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2839814	NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)	TRPV4 (A631V +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2839808	NM_021625.5(TRPV4):c.1332+1G>A	TRPV4	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2833886	NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)	TRPV4 (L351P +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2833479	NM_021625.5(TRPV4):c.1083C>T (p.Asn361=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2833355	NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)	TRPV4 (R413G +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2823892	NM_021625.5(TRPV4):c.413C>A (p.Pro138His)	TRPV4 (P104H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2819228	NM_021625.5(TRPV4):c.2209-15C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2818189	NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)	TRPV4 (V230I +1 more)	Inversion (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2818104	NM_021625.5(TRPV4):c.2459-10C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2817816	NM_021625.5(TRPV4):c.1333-14C>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2816448	NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)	TRPV4 (P551T +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2814374	NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)	TRPV4 (T505A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2811296	NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)	TRPV4 (Y444* +4 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2811022	NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)	TRPV4 (P739Q +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2808354	NM_021625.5(TRPV4):c.1263C>G (p.Leu421=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2806484	NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)	TRPV4 (W725S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2804092	NM_021625.5(TRPV4):c.634G>A (p.Val212Met)	TRPV4 (V178M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2802832	NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)	TRPV4 (E363Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2800698	NM_021625.5(TRPV4):c.957G>T (p.Ser319=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2796086	NM_021625.5(TRPV4):c.1333-3T>C	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2794083	NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)	TRPV4 (N411D +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2786426	NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)	TRPV4 (I83V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2780319	NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)	TRPV4 (I355V +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2780255	NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)	TRPV4 (C306Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GPathogenic
Select item 2777130	NM_021625.5(TRPV4):c.1935C>T (p.Cys645=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2776410	NM_021625.5(TRPV4):c.402C>T (p.Ser134=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2770712	NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)	TRPV4 (Y364* +2 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2765065	NM_021625.5(TRPV4):c.603C>T (p.Asn201=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2764108	NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)	TRPV4 (G795A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2763028	NM_021625.5(TRPV4):c.1892-13T>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2760497	NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)	TRPV4 (K470N +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2759627	NM_021625.5(TRPV4):c.1584+5G>C	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2756198	NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)	TRPV4 (G261R +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2750692	NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)	TRPV4 (Q107E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2748392	NM_021625.5(TRPV4):c.1494G>A (p.Pro498=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2747576	NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)	TRPV4 (D622G +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2745918	NM_021625.5(TRPV4):c.973C>T (p.Leu325=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2742159	NM_021625.5(TRPV4):c.672G>A (p.Arg224=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2741720	NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)	TRPV4 (P46S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2740302	NM_021625.5(TRPV4):c.1416C>T (p.Tyr472=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2735375	NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)	TRPV4 (R124K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance

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