ClinVar for MedGen (Select 324487) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24414141.	NM_001370298.3(FGD4):c.962G>A (p.Gly321Glu) GRCh37: Chr12:32735352 GRCh38: Chr12:32582418	FGD4	G184E, G269E, G321E, G91E	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 24414132.	NM_001370298.3(FGD4):c.827C>T (p.Pro276Leu) GRCh37: Chr12:32735217 GRCh38: Chr12:32582283	FGD4	P139L, P224L, P276L, P46L	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 4, 2019)	criteria provided, single submitter
Select item 24414123.	NM_001370298.3(FGD4):c.752C>T (p.Thr251Ile) GRCh37: Chr12:32735142 GRCh38: Chr12:32582208	FGD4	T114I, T199I, T21I, T251I	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Apr 30, 2019)	criteria provided, single submitter
Select item 18954494.	NM_001370298.3(FGD4):c.1573dup (p.Ser525fs) GRCh37: Chr12:32763737-32763738 GRCh38: Chr12:32610803-32610804	FGD4	S140fs, S204fs, S44fs, S473fs, S388fs, S295fs, S525fs	Charcot-Marie-Tooth disease type 4H	Likely pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 13559795.	NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln) GRCh37: Chr12:32764080 GRCh38: Chr12:32611146	FGD4	K153Q, K308Q, K538Q, K401Q, K486Q, K57Q, K217Q	Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12626796.	NM_001370298.3(FGD4):c.2046+37A>G GRCh37: Chr12:32778039 GRCh38: Chr12:32625105	FGD4		not provided, Charcot-Marie-Tooth disease type 4H	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11845607.	NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln) GRCh37: Chr12:32778700 GRCh38: Chr12:32625766	FGD4	R239Q, R335Q, R399Q, R490Q, R583Q, R668Q, R720Q	Inborn genetic diseases	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 11845598.	NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs) GRCh37: Chr12:32751514-32751518 GRCh38: Chr12:32598580-32598584	FGD4	D136fs, D229fs, D314fs, D366fs, D45fs	Charcot-Marie-Tooth disease type 4H	Likely pathogenic	no assertion criteria provided
Select item 11728389.	NM_001370298.3(FGD4):c.789C>G (p.His263Gln) GRCh37: Chr12:32735179 GRCh38: Chr12:32582245	FGD4	H126Q, H211Q, H263Q, H33Q	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4H	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88391310.	NM_001370298.3(FGD4):c.*4988G>A GRCh37: Chr12:32798455 GRCh38: Chr12:32645521	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88391211.	NM_001370298.3(FGD4):c.*4832G>A GRCh37: Chr12:32798299 GRCh38: Chr12:32645365	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88384012.	NM_001370298.3(FGD4):c.*3543G>C GRCh37: Chr12:32797010 GRCh38: Chr12:32644076	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 88383913.	NM_001370298.3(FGD4):c.*3195T>G GRCh37: Chr12:32796662 GRCh38: Chr12:32643728	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88378714.	NM_001370298.3(FGD4):c.*1564T>C GRCh37: Chr12:32795031 GRCh38: Chr12:32642097	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88378615.	NM_001370298.3(FGD4):c.*1530T>C GRCh37: Chr12:32794997 GRCh38: Chr12:32642063	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88373316.	NM_001370298.3(FGD4):c.*131A>G GRCh37: Chr12:32793598 GRCh38: Chr12:32640664	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88373217.	NM_001370298.3(FGD4):c.*69T>C GRCh37: Chr12:32793536 GRCh38: Chr12:32640602	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88373118.	NM_001370298.3(FGD4):c.*27G>A GRCh37: Chr12:32793494 GRCh38: Chr12:32640560	FGD4		not provided, Charcot-Marie-Tooth disease type 4H	Benign/Likely benign (Oct 25, 2018)	criteria provided, multiple submitters, no conflicts
Select item 88373019.	NM_001370298.3(FGD4):c.2172+12T>G GRCh37: Chr12:32778725 GRCh38: Chr12:32625791	FGD4		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 88313920.	NM_001370298.3(FGD4):c.*4585T>A GRCh37: Chr12:32798052 GRCh38: Chr12:32645118	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88313821.	NM_001370298.3(FGD4):c.*4446A>G GRCh37: Chr12:32797913 GRCh38: Chr12:32644979	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88313722.	NM_001370298.3(FGD4):c.*4347T>C GRCh37: Chr12:32797814 GRCh38: Chr12:32644880	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88306623.	NM_001370298.3(FGD4):c.*3022A>G GRCh37: Chr12:32796489 GRCh38: Chr12:32643555	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88306524.	NM_001370298.3(FGD4):c.*2859G>A GRCh37: Chr12:32796326 GRCh38: Chr12:32643392	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88306425.	NM_001370298.3(FGD4):c.*2648G>A GRCh37: Chr12:32796115 GRCh38: Chr12:32643181	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88299426.	NM_001370298.3(FGD4):c.*1375C>T GRCh37: Chr12:32794842 GRCh38: Chr12:32641908	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88299327.	NM_001370298.3(FGD4):c.*1365T>C GRCh37: Chr12:32794832 GRCh38: Chr12:32641898	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88299228.	NM_001370298.3(FGD4):c.*1351A>T GRCh37: Chr12:32794818 GRCh38: Chr12:32641884	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88299129.	NM_001370298.3(FGD4):c.*1259A>G GRCh37: Chr12:32794726 GRCh38: Chr12:32641792	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88293930.	NM_001370298.3(FGD4):c.1980T>C (p.Phe660=) GRCh37: Chr12:32777936 GRCh38: Chr12:32625002	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88204531.	NM_001370298.3(FGD4):c.*5389A>G GRCh37: Chr12:32798856 GRCh38: Chr12:32645922	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88204432.	NM_001370298.3(FGD4):c.*5321G>A GRCh37: Chr12:32798788 GRCh38: Chr12:32645854	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88204333.	NM_001370298.3(FGD4):c.*5265A>G GRCh37: Chr12:32798732 GRCh38: Chr12:32645798	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88197234.	NM_001370298.3(FGD4):c.*4317T>G GRCh37: Chr12:32797784 GRCh38: Chr12:32644850	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88197135.	NM_001370298.3(FGD4):c.*4192G>T GRCh37: Chr12:32797659 GRCh38: Chr12:32644725	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88197036.	NM_001370298.3(FGD4):c.*4118G>A GRCh37: Chr12:32797585 GRCh38: Chr12:32644651	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88196937.	NM_001370298.3(FGD4):c.*4028A>G GRCh37: Chr12:32797495 GRCh38: Chr12:32644561	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88189138.	NM_001370298.3(FGD4):c.*2487C>A GRCh37: Chr12:32795954 GRCh38: Chr12:32643020	FGD4		Charcot-Marie-Tooth disease type 4H, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 88189039.	NM_001370298.3(FGD4):c.*2309G>A GRCh37: Chr12:32795776 GRCh38: Chr12:32642842	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88188940.	NM_001370298.3(FGD4):c.*2264G>A GRCh37: Chr12:32795731 GRCh38: Chr12:32642797	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88178841.	NM_001370298.3(FGD4):c.1602+6T>C GRCh37: Chr12:32763774 GRCh38: Chr12:32610840	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88173642.	NM_001370298.3(FGD4):c.167-61986C>G GRCh37: Chr12:32655085 GRCh38: Chr12:32502151	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88173543.	NM_001370298.3(FGD4):c.167-62001C>G GRCh37: Chr12:32655070 GRCh38: Chr12:32502136	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88173444.	NM_001370298.3(FGD4):c.167-62008C>A GRCh37: Chr12:32655063 GRCh38: Chr12:32502129	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88145445.	NM_001370298.3(FGD4):c.*2192G>A GRCh37: Chr12:32795659 GRCh38: Chr12:32642725	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88145346.	NM_001370298.3(FGD4):c.*2096T>A GRCh37: Chr12:32795563 GRCh38: Chr12:32642629	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88139747.	NM_001370298.3(FGD4):c.*712C>T GRCh37: Chr12:32794179 GRCh38: Chr12:32641245	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88139648.	NM_001370298.3(FGD4):c.*368T>C GRCh37: Chr12:32793835 GRCh38: Chr12:32640901	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88139549.	NM_001370298.3(FGD4):c.*167G>A GRCh37: Chr12:32793634 GRCh38: Chr12:32640700	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88134550.	NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile) GRCh37: Chr12:32755152 GRCh38: Chr12:32602218	FGD4	M205I, M298I, M114I, M383I, M50I, M435I	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88063151.	NM_001370298.3(FGD4):c.*5243C>T GRCh37: Chr12:32798710 GRCh38: Chr12:32645776	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88063052.	NM_001370298.3(FGD4):c.*5153G>A GRCh37: Chr12:32798620 GRCh38: Chr12:32645686	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 19, 2018)	criteria provided, single submitter
Select item 88055153.	NM_001370298.3(FGD4):c.*4014C>A GRCh37: Chr12:32797481 GRCh38: Chr12:32644547	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88055054.	NM_001370298.3(FGD4):c.*3994A>G GRCh37: Chr12:32797461 GRCh38: Chr12:32644527	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88054955.	NM_001370298.3(FGD4):c.*3940G>A GRCh37: Chr12:32797407 GRCh38: Chr12:32644473	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88054856.	NM_001370298.3(FGD4):c.*3937A>G GRCh37: Chr12:32797404 GRCh38: Chr12:32644470	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84945057.	NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu) GRCh37: Chr12:32754252 GRCh38: Chr12:32601318	FGD4	S329L, S151L, S60L, S244L, S381L	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4H	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81653558.	NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del) GRCh37: Chr12:32777369-32777371 GRCh38: Chr12:32624435-32624437	FGD4	K165del, K261del, K325del, K416del, K509del, K594del, K646del	Charcot-Marie-Tooth disease type 4H	Uncertain significance	criteria provided, single submitter
Select item 81198559.	NM_001370298.3(FGD4):c.504-20C>G GRCh37: Chr12:32734874 GRCh38: Chr12:32581940	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (May 1, 2019)	criteria provided, single submitter
Select item 80283260.	NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) GRCh37: Chr12:32552769 GRCh38: Chr12:32399835	FGD4	I41M, I14M	Charcot-Marie-Tooth disease type 4H	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69739261.	NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) GRCh37: Chr12:32735175 GRCh38: Chr12:32582241	FGD4	T125M, T32M, T210M, T262M	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 67047962.	NM_001370298.3(FGD4):c.1248-37T>A GRCh37: Chr12:32755058 GRCh38: Chr12:32602124	FGD4		not provided, Charcot-Marie-Tooth disease type 4H	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65881463.	NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) GRCh37: Chr12:32793261 GRCh38: Chr12:32640327	FGD4	M355V, M515V, M606V, M699V, M784V, M836V	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63794264.	NM_001370298.3(FGD4):c.1248-2A>G GRCh37: Chr12:32755093 GRCh38: Chr12:32602159	FGD4		Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63708465.	NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter) GRCh37: Chr12:32786493 GRCh38: Chr12:32633559	FGD4	W676, W591, W407, W343, W498, W247, W728*	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63708366.	NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs) GRCh37: Chr12:32786604-32786607 GRCh38: Chr12:32633670-32633673	FGD4	R445fs, R536fs, R381fs, R285fs, R629fs, R714fs, R766fs	Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63708267.	NM_001370298.3(FGD4):c.1248-1G>A GRCh37: Chr12:32755094 GRCh38: Chr12:32602160	FGD4		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63708168.	NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs) GRCh37: Chr12:32786609-32786613 GRCh38: Chr12:32633675-32633679	FGD4	K715fs, K382fs, K446fs, K630fs, K286fs, K537fs, K767fs	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63708069.	NM_001370298.3(FGD4):c.1543+1G>A GRCh37: Chr12:32761030 GRCh38: Chr12:32608096	FGD4		Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63707970.	NM_001370298.3(FGD4):c.925dup (p.Ala309fs) GRCh37: Chr12:32735311-32735312 GRCh38: Chr12:32582377-32582378	FGD4	A172fs, A257fs, A79fs, A309fs	Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 63707871.	NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile) GRCh37: Chr12:32778650 GRCh38: Chr12:32625716	FGD4	M566I, M651I, M382I, M222I, M318I, M473I, M703I	Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 59894272.	GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4 GRCh37: Chr12:32711272-32788014	FGD4		Charcot-Marie-Tooth disease type 4H	Likely pathogenic (Nov 7, 2018)	no assertion criteria provided
Select item 59893973.	NM_001370298.3(FGD4):c.2622dup (p.Ala875fs) GRCh37: Chr12:32793376-32793377 GRCh38: Chr12:32640442-32640443	FGD4	A554fs, A738fs, A823fs, A645fs, A394fs, A875fs	Charcot-Marie-Tooth disease type 4H	Pathogenic (Nov 30, 2018)	no assertion criteria provided
Select item 59893874.	NM_001370298.3(FGD4):c.925del (p.Ala309fs) GRCh37: Chr12:32735312 GRCh38: Chr12:32582378	FGD4	A257fs, A79fs, A172fs, A309fs	Charcot-Marie-Tooth disease type 4H	Pathogenic (Nov 30, 2018)	no assertion criteria provided
Select item 58756575.	NM_001370298.3(FGD4):c.167-77996del GRCh37: Chr12:32639070 GRCh38: Chr12:32486136	FGD4	G3fs	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 58743976.	NM_001370298.3(FGD4):c.1367G>A (p.Arg456His) GRCh37: Chr12:32755214 GRCh38: Chr12:32602280	FGD4	R319H, R404H, R226H, R135H, R71H, R456H	Charcot-Marie-Tooth disease type 4H	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 54349077.	NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser) GRCh37: Chr12:32751465 GRCh38: Chr12:32598531	FGD4	N297S, N212S, N119S, N28S, N349S	Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 54342378.	NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) GRCh37: Chr12:32763752 GRCh38: Chr12:32610818	FGD4	S477N, S392N, S144N, S208N, S299N, S48N, S529N	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47694679.	NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) GRCh37: Chr12:32755143 GRCh38: Chr12:32602209	FGD4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, not provided, Charcot-Marie-Tooth disease type 4H	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44732280.	NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs) GRCh37: Chr12:32755209-32755210 GRCh38: Chr12:32602275-32602276	FGD4	E225fs, E134fs, E318fs, E70fs, E403fs, E455fs	not provided, Charcot-Marie-Tooth disease type 4H	Pathogenic/Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41918181.	NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) GRCh37: Chr12:32786595-32786599 GRCh38: Chr12:32633661-32633665	FGD4	K382fs, K286fs, K446fs, K537fs, K630fs, K715fs, K767fs	Charcot-Marie-Tooth disease type 4, not provided	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41487382.	NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) GRCh37: Chr12:32735037 GRCh38: Chr12:32582103	FGD4	T79I, T164I, T216I	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30838183.	NM_001370298.3(FGD4):c.*5329G>C GRCh37: Chr12:32798796 GRCh38: Chr12:32645862	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30838084.	NM_001370298.3(FGD4):c.*5309C>T GRCh37: Chr12:32798776 GRCh38: Chr12:32645842	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30837985.	NM_001370298.3(FGD4):c.*5244G>A GRCh37: Chr12:32798711 GRCh38: Chr12:32645777	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30837886.	NM_001370298.3(FGD4):c.*5223G>A GRCh37: Chr12:32798690 GRCh38: Chr12:32645756	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30837787.	NM_001370298.3(FGD4):c.*5198G>A GRCh37: Chr12:32798665 GRCh38: Chr12:32645731	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30837588.	NM_001370298.3(FGD4):c.*5152C>T GRCh37: Chr12:32798619 GRCh38: Chr12:32645685	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30837489.	NM_001370298.3(FGD4):c.*5072A>G GRCh37: Chr12:32798539 GRCh38: Chr12:32645605	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30837390.	NM_001370298.3(FGD4):c.*5020G>C GRCh37: Chr12:32798487 GRCh38: Chr12:32645553	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30837291.	NM_001370298.3(FGD4):c.*4991A>G GRCh37: Chr12:32798458 GRCh38: Chr12:32645524	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30837192.	NM_001370298.3(FGD4):c.*4977G>C GRCh37: Chr12:32798444 GRCh38: Chr12:32645510	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30837093.	NM_001370298.3(FGD4):c.*4956T>A GRCh37: Chr12:32798423 GRCh38: Chr12:32645489	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30836994.	NM_001370298.3(FGD4):c.*4925A>T GRCh37: Chr12:32798392 GRCh38: Chr12:32645458	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30836895.	NM_001370298.3(FGD4):c.*4862C>A GRCh37: Chr12:32798329 GRCh38: Chr12:32645395	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30836796.	NM_001370298.3(FGD4):c.*4831C>T GRCh37: Chr12:32798298 GRCh38: Chr12:32645364	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30836597.	NM_001370298.3(FGD4):c.*4756A>G GRCh37: Chr12:32798223 GRCh38: Chr12:32645289	FGD4		Charcot-Marie-Tooth disease type 4H	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30836498.	NM_001370298.3(FGD4):c.*4652T>C GRCh37: Chr12:32798119 GRCh38: Chr12:32645185	FGD4		Charcot-Marie-Tooth disease type 4H	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30836399.	NM_001370298.3(FGD4):c.*4497G>A GRCh37: Chr12:32797964 GRCh38: Chr12:32645030	FGD4		Charcot-Marie-Tooth disease type 4H	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 308362100.	NM_001370298.3(FGD4):c.*4454G>A GRCh37: Chr12:32797921 GRCh38: Chr12:32644987	FGD4		Charcot-Marie-Tooth disease type 4H, not provided	Benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts

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