ClinVar for MedGen (Select 342947) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 758

<< First< Prev

Page of 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24282141.	NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile) GRCh37: Chr12:110232162 GRCh38: Chr12:109794357	TRPV4	T381I, T428I, T441I, T454I, T488I	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 24281882.	NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn) GRCh37: Chr12:110252588 GRCh38: Chr12:109814783	TRPV4	S5N	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24279893.	NM_021625.5(TRPV4):c.2459-11T>C GRCh37: Chr12:110221594 GRCh38: Chr12:109783789	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 24144894.	NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly) GRCh37: Chr12:110252594 GRCh38: Chr12:109814789	TRPV4	D3G	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 22024495.	NM_021625.5(TRPV4):c.910C>T (p.Leu304=) GRCh37: Chr12:110236661 GRCh38: Chr12:109798856	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 22010516.	NM_021625.5(TRPV4):c.1891+7T>C GRCh37: Chr12:110230161 GRCh38: Chr12:109792356	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 22009877.	NM_021625.5(TRPV4):c.471C>T (p.Ile157=) GRCh37: Chr12:110246189 GRCh38: Chr12:109808384	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 22009488.	NM_021625.5(TRPV4):c.2313T>A (p.Thr771=) GRCh37: Chr12:110224538 GRCh38: Chr12:109786733	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 21933119.	NM_021625.5(TRPV4):c.2523G>A (p.Val841=) GRCh37: Chr12:110221519 GRCh38: Chr12:109783714	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 218144910.	NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr) GRCh37: Chr12:110252574 GRCh38: Chr12:109814769	TRPV4	A10T	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218025611.	NM_021625.5(TRPV4):c.712+11G>A GRCh37: Chr12:110240785 GRCh38: Chr12:109802980	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 217897112.	NM_021625.5(TRPV4):c.2508G>T (p.Ser836=) GRCh37: Chr12:110221534 GRCh38: Chr12:109783729	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 217728713.	NM_021625.5(TRPV4):c.2459-5T>C GRCh37: Chr12:110221588 GRCh38: Chr12:109783783	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 217423014.	NM_021625.5(TRPV4):c.1825-5T>C GRCh37: Chr12:110230239 GRCh38: Chr12:109792434	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217160115.	NM_021625.5(TRPV4):c.1333-4_1333-3del GRCh37: Chr12:110232295-110232296 GRCh38: Chr12:109794490-109794491	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 217143916.	NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser) GRCh37: Chr12:110252489 GRCh38: Chr12:109814684	TRPV4	N38S	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217032817.	NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala) GRCh37: Chr12:110226420 GRCh38: Chr12:109788615	TRPV4	T558A, T631A, T665A, T605A, T618A	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216558418.	NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu) GRCh37: Chr12:110236478 GRCh38: Chr12:109798673	TRPV4	V365L, V318L, V331L	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 216411819.	NM_021625.5(TRPV4):c.386+15C>G GRCh37: Chr12:110252201 GRCh38: Chr12:109814396	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 216362520.	NM_021625.5(TRPV4):c.895dup (p.His299fs) GRCh37: Chr12:110236675-110236676 GRCh38: Chr12:109798870-109798871	TRPV4	H299fs, H252fs, H265fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 216355321.	NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys) GRCh37: Chr12:110240887 GRCh38: Chr12:109803082	TRPV4	N173K, N207K	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 216216322.	NM_021625.5(TRPV4):c.2133C>A (p.Leu711=) GRCh37: Chr12:110226280 GRCh38: Chr12:109788475	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 216154023.	NM_021625.5(TRPV4):c.2458+15G>A GRCh37: Chr12:110222106 GRCh38: Chr12:109784301	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215523424.	NM_021625.5(TRPV4):c.2336+8T>C GRCh37: Chr12:110224507 GRCh38: Chr12:109786702	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 215181525.	NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser) GRCh37: Chr12:110224543 GRCh38: Chr12:109786738	TRPV4	G710S, G770S, G723S, G736S, G663S	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214814026.	NM_021625.5(TRPV4):c.30G>A (p.Ala10=) GRCh37: Chr12:110252572 GRCh38: Chr12:109814767	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 214372627.	NM_021625.5(TRPV4):c.2526G>A (p.Val842=) GRCh37: Chr12:110221516 GRCh38: Chr12:109783711	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 214006728.	NM_021625.5(TRPV4):c.845dup (p.Tyr283fs) GRCh37: Chr12:110238430-110238431 GRCh38: Chr12:109800625-109800626	TRPV4	Y249fs, Y283fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 213894629.	NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser) GRCh37: Chr12:110252523 GRCh38: Chr12:109814718	TRPV4	G27S	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212829330.	NM_021625.5(TRPV4):c.740_741del (p.Glu247fs) GRCh37: Chr12:110238535-110238536 GRCh38: Chr12:109800730-109800731	TRPV4	E213fs, E247fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212546131.	NM_021625.5(TRPV4):c.41A>T (p.Glu14Val) GRCh37: Chr12:110252561 GRCh38: Chr12:109814756	TRPV4	E14V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211974232.	NM_021625.5(TRPV4):c.1658+15_1658+21del GRCh37: Chr12:110231311-110231317 GRCh38: Chr12:109793506-109793512	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 211964333.	NM_021625.5(TRPV4):c.286G>T (p.Val96Leu) GRCh37: Chr12:110252316 GRCh38: Chr12:109814511	TRPV4	V96L, V62L	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 211943334.	NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala) GRCh37: Chr12:110232201 GRCh38: Chr12:109794396	TRPV4	V368A, V428A, V441A, V475A, V415A	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 211868735.	NM_021625.5(TRPV4):c.500A>T (p.Asp167Val) GRCh37: Chr12:110246160 GRCh38: Chr12:109808355	TRPV4	D133V, D167V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 211672436.	NM_021625.5(TRPV4):c.648C>G (p.Ile216Met) GRCh37: Chr12:110240860 GRCh38: Chr12:109803055	TRPV4	I216M, I182M	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211490537.	NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly) GRCh37: Chr12:110224642 GRCh38: Chr12:109786837	TRPV4	W630G, W703G, W677G, W690G, W737G	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 211373538.	NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly) GRCh37: Chr12:110231799 GRCh38: Chr12:109793994	TRPV4	D400G, D473G, D507G, D447G, D460G	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 209879339.	NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn) GRCh37: Chr12:110252289 GRCh38: Chr12:109814484	TRPV4	D71N, D105N	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209704040.	NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu) GRCh37: Chr12:110236643 GRCh38: Chr12:109798838	TRPV4	K276E, K310E, K263E	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 209197241.	NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly) GRCh37: Chr12:110252577 GRCh38: Chr12:109814772	TRPV4	R9G	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208100542.	NM_021625.5(TRPV4):c.1333-17C>A GRCh37: Chr12:110232309 GRCh38: Chr12:109794504	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 207839443.	NM_021625.5(TRPV4):c.1584+15C>T GRCh37: Chr12:110231720 GRCh38: Chr12:109793915	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 207804444.	NM_021625.5(TRPV4):c.1825-10G>A GRCh37: Chr12:110230244 GRCh38: Chr12:109792439	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 206841445.	NM_021625.5(TRPV4):c.435C>T (p.Ile145=) GRCh37: Chr12:110246225 GRCh38: Chr12:109808420	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 206652846.	NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr) GRCh37: Chr12:110230185 GRCh38: Chr12:109792380	TRPV4	M578T, M518T, M591T, M625T, M565T	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206558947.	NM_021625.5(TRPV4):c.1585-12C>T GRCh37: Chr12:110231417 GRCh38: Chr12:109793612	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 206470448.	NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr) GRCh37: Chr12:110226461 GRCh38: Chr12:109788656	TRPV4	N591T, N617T, N651T, N604T, N544T	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 206361049.	NM_021625.5(TRPV4):c.5C>T (p.Ala2Val) GRCh37: Chr12:110252597 GRCh38: Chr12:109814792	TRPV4	A2V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 205491750.	NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro) GRCh37: Chr12:110231366 GRCh38: Chr12:109793561	TRPV4	S508P, S542P, S435P, S495P, S482P	Charcot-Marie-Tooth disease axonal type 2C	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205146451.	NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp) GRCh37: Chr12:110224557 GRCh38: Chr12:109786752	TRPV4	G765D, G705D, G658D, G718D, G731D	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 204776752.	NM_021625.5(TRPV4):c.282G>A (p.Ser94=) GRCh37: Chr12:110252320 GRCh38: Chr12:109814515	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 204667253.	NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe) GRCh37: Chr12:110224611 GRCh38: Chr12:109786806	TRPV4	S700F, S713F, S687F, S640F, S747F	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 204660754.	NM_021625.5(TRPV4):c.1584+20G>A GRCh37: Chr12:110231715 GRCh38: Chr12:109793910	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 204069655.	NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met) GRCh37: Chr12:110221548 GRCh38: Chr12:109783743	TRPV4	L772M, L725M, L798M, L785M, L832M	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 204032456.	NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys) GRCh37: Chr12:110252359 GRCh38: Chr12:109814554	TRPV4	N47K, N81K	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 203683157.	NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del) GRCh37: Chr12:110221509-110221529 GRCh38: Chr12:109783704-109783724	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 202939158.	NM_021625.5(TRPV4):c.657C>T (p.Arg219=) GRCh37: Chr12:110240851 GRCh38: Chr12:109803046	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 202408059.	NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys) GRCh37: Chr12:110221560 GRCh38: Chr12:109783755	TRPV4	R768C, R794C, R721C, R781C, R828C	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 201842860.	NM_021625.5(TRPV4):c.1658+20C>G GRCh37: Chr12:110231312 GRCh38: Chr12:109793507	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 201640161.	NM_021625.5(TRPV4):c.1659-7A>G GRCh37: Chr12:110230629 GRCh38: Chr12:109792824	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 201206162.	NM_021625.5(TRPV4):c.1333-20dup GRCh37: Chr12:110232311-110232312 GRCh38: Chr12:109794506-109794507	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 201106163.	NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu) GRCh37: Chr12:110232280 GRCh38: Chr12:109794475	TRPV4	M342L, M415L, M449L, M389L, M402L	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 200957664.	NM_021625.5(TRPV4):c.854-20C>T GRCh37: Chr12:110236737 GRCh38: Chr12:109798932	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 200641965.	NM_021625.5(TRPV4):c.2301C>T (p.Ser767=) GRCh37: Chr12:110224550 GRCh38: Chr12:109786745	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200034266.	NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp) GRCh37: Chr12:110240846 GRCh38: Chr12:109803041	TRPV4	G221D, G187D	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 199391367.	NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu) GRCh37: Chr12:110246148 GRCh38: Chr12:109808343	TRPV4	P171L, P137L	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 199319968.	NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys) GRCh37: Chr12:110231351 GRCh38: Chr12:109793546	TRPV4	G440C, G500C, G547C, G487C, G513C	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198985069.	NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val) GRCh37: Chr12:110232222 GRCh38: Chr12:109794417	TRPV4	A421V, A468V, A361V, A434V, A408V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 198909770.	NM_021625.5(TRPV4):c.352dup (p.Ser118fs) GRCh37: Chr12:110252249-110252250 GRCh38: Chr12:109814444-109814445	TRPV4	S118fs, S84fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 198435871.	NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val) GRCh37: Chr12:110231363 GRCh38: Chr12:109793558	TRPV4	L483V, L496V, L436V, L509V, L543V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 198358572.	NM_021625.5(TRPV4):c.1492-9G>A GRCh37: Chr12:110231836 GRCh38: Chr12:109794031	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 198337973.	NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln) GRCh37: Chr12:110234490 GRCh38: Chr12:109796685	TRPV4	R391Q, R357Q, R344Q	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 198137974.	NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro) GRCh37: Chr12:110236699 GRCh38: Chr12:109798894	TRPV4	L244P, L257P, L291P	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 197803675.	NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg) GRCh37: Chr12:110234380 GRCh38: Chr12:109796575	TRPV4	G394R, G428R, G381R	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 197137076.	NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu) GRCh37: Chr12:110222241 GRCh38: Chr12:109784436	TRPV4	V720L, V780L, V673L, V733L, V746L	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 197016377.	NM_021625.5(TRPV4):c.1491A>C (p.Thr497=) GRCh37: Chr12:110232134 GRCh38: Chr12:109794329	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 196735078.	NM_021625.5(TRPV4):c.1497G>A (p.Pro499=) GRCh37: Chr12:110231822 GRCh38: Chr12:109794017	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 196651279.	NM_021625.5(TRPV4):c.1491+18G>A GRCh37: Chr12:110232116 GRCh38: Chr12:109794311	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 196087480.	NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter) GRCh37: Chr12:110231819 GRCh38: Chr12:109794014	TRPV4	Y393, Y440, Y466, Y453, Y500*	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 196034581.	NM_021625.5(TRPV4):c.417C>T (p.Ala139=) GRCh37: Chr12:110246243 GRCh38: Chr12:109808438	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 195807882.	NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val) GRCh37: Chr12:110231374 GRCh38: Chr12:109793569	TRPV4	G539V, G432V, G479V, G492V, G505V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 195718383.	NM_021625.5(TRPV4):c.1467del (p.Tyr490fs) GRCh37: Chr12:110232158 GRCh38: Chr12:109794353	TRPV4	Y443fs, Y490fs, Y383fs, Y430fs, Y456fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 195651784.	NM_021625.5(TRPV4):c.2595del (p.Thr866fs) GRCh37: Chr12:110221447 GRCh38: Chr12:109783642	TRPV4	T806fs, T866fs, T759fs, T819fs, T832fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 195631085.	NM_021625.5(TRPV4):c.2209-8C>T GRCh37: Chr12:110224650 GRCh38: Chr12:109786845	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 195590486.	NM_021625.5(TRPV4):c.2336+16T>G GRCh37: Chr12:110224499 GRCh38: Chr12:109786694	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 194973487.	NM_021625.5(TRPV4):c.1431del (p.Tyr478fs) GRCh37: Chr12:110232194 GRCh38: Chr12:109794389	TRPV4	Y444fs, Y478fs, Y371fs, Y418fs, Y431fs	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 194620888.	NM_021625.5(TRPV4):c.180A>G (p.Pro60=) GRCh37: Chr12:110252422 GRCh38: Chr12:109814617	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 194316789.	NM_021625.5(TRPV4):c.2458+17G>A GRCh37: Chr12:110222104 GRCh38: Chr12:109784299	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 194290990.	NM_021625.5(TRPV4):c.1266C>G (p.Ser422=) GRCh37: Chr12:110234396 GRCh38: Chr12:109796591	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 193635391.	NM_021625.5(TRPV4):c.2208+14G>A GRCh37: Chr12:110226191 GRCh38: Chr12:109788386	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 193586192.	NM_021625.5(TRPV4):c.2458+7G>A GRCh37: Chr12:110222114 GRCh38: Chr12:109784309	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 193516393.	NM_021625.5(TRPV4):c.1492-20dup GRCh37: Chr12:110231846-110231847 GRCh38: Chr12:109794041-109794042	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 192679694.	NM_021625.5(TRPV4):c.2336+18G>A GRCh37: Chr12:110224497 GRCh38: Chr12:109786692	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 192679095.	NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg) GRCh37: Chr12:110236516 GRCh38: Chr12:109798711	TRPV4	K305R, K352R, K318R	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 192310596.	NM_021625.5(TRPV4):c.853+17T>G GRCh37: Chr12:110238406 GRCh38: Chr12:109800601	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 191998397.	NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly) GRCh37: Chr12:110232289 GRCh38: Chr12:109794484	TRPV4	R386G, R339G, R446G, R399G, R412G	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 191682398.	NM_021625.5(TRPV4):c.125G>T (p.Gly42Val) GRCh37: Chr12:110252477 GRCh38: Chr12:109814672	TRPV4	G42V	Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 190996799.	NM_021625.5(TRPV4):c.1857C>A (p.Leu619=) GRCh37: Chr12:110230202 GRCh38: Chr12:109792397	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 1905972100.	NM_021625.5(TRPV4):c.2337-13T>A GRCh37: Chr12:110222255 GRCh38: Chr12:109784450	TRPV4		Charcot-Marie-Tooth disease axonal type 2C	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter

<< First< Prev

Page of 8