ClinVar for MedGen (Select 124378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248509	NC_000019.9:g.(?_50332011)_(50333471_?)del	MED25	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3247864	NC_000001.10:g.(?_156104797)_(156106169_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247863	NC_000001.10:g.(?_156108509)_(156108950_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 3247861	NC_000001.10:g.(?_156102657)_(156104215_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 3247860	NC_000001.10:g.(?_156104174)_(156108897_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247859	NC_000001.10:g.(?_156084710)_(156100584_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247858	NC_000001.10:g.(?_10431179)_(10431340_?)del	KIF1B	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3247857	NC_000001.10:g.(?_12060714)_(12067233_?)del	MFN2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247856	NC_000001.10:g.(?_12052592)_(12071622_?)dup	MFN2	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3247855	NC_000001.10:g.(?_12049226)_(12059172_?)del	MFN2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247854	NC_000001.10:g.(?_12056193)_(12056395_?)del	MFN2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3245830	NC_000007.13:g.(?_30634538)_(30673476_?)dup	GARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3245829	NC_000007.13:g.(?_30054351)_(30963244_?)del	AQP1, CRHR2 +9 more	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3244694	NC_000011.9:g.(?_62457839)_(62460289_?)dup	BSCL2	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3244693	NC_000011.9:g.(?_62439218)_(62470041_?)dup	BSCL2, LBHD1 +3 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3244692	NC_000011.9:g.(?_62457839)_(62472984_?)del	BSCL2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243572	NC_000016.9:g.(?_70310369)_(70311077_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 3243570	NC_000016.9:g.(?_70289611)_(70293109_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	DDX19B, FCSK +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243568	NC_000016.9:g.(?_70286624)_(70316666_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243567	NC_000016.9:g.(?_70286624)_(70304263_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243566	NC_000016.9:g.(?_70310369)_(70316666_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243565	NC_000016.9:g.(?_70301542)_(70301732_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3023548	NM_170707.4(LMNA):c.1026G>A (p.Glu342=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3023262	NM_001365951.3(KIF1B):c.4170+20del	KIF1B	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3022397	NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)	GARS1 (K456R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3022343	NM_002047.4(GARS1):c.212T>C (p.Val71Ala)	GARS1 (V71A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3021966	NM_014874.4(MFN2):c.2204+19G>C	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3021043	NM_001365951.3(KIF1B):c.1777+7A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3020742	NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)	GARS1 (N261S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020643	NM_002047.4(GARS1):c.1995C>T (p.Gly665=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3020312	NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)	GARS1 (F495S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020284	NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly)	MFN2 (R418G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020224	NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)	AARS1 (E621K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020000	NM_002047.4(GARS1):c.1031+9C>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3019904	NM_001365951.3(KIF1B):c.2226T>C (p.His742=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3018993	NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)	AARS1 (L682Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3018201	NM_030973.4(MED25):c.135-12C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3017744	NM_030973.4(MED25):c.820-11T>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3017585	NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3017439	NM_170707.4(LMNA):c.615C>T (p.Asp205=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 3017172	NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)	AARS1 (Q907R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3016786	NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)	AARS1 (T136A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3016776	NM_001605.3(AARS1):c.1785+5G>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3016638	NM_001365951.3(KIF1B):c.3633-20T>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3015783	NM_014874.4(MFN2):c.1677C>T (p.Pro559=)	LOC129929426, MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3015547	NM_001365951.3(KIF1B):c.4305-20G>C	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3015242	NM_001365951.3(KIF1B):c.194C>A (p.Pro65His)	KIF1B (P65H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3015198	NM_001605.3(AARS1):c.583A>G (p.Ile195Val)	AARS1 (I195V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3015063	NM_030973.4(MED25):c.1272G>A (p.Thr424=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3015059	NM_001365951.3(KIF1B):c.3927A>C (p.Lys1309Asn)	KIF1B (K1263N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3014869	NM_001605.3(AARS1):c.2400+5G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3014021	NM_001365951.3(KIF1B):c.184-11A>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3013977	NM_001122955.4(BSCL2):c.1005+14A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3013895	NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)	AARS1 (G724R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013742	NM_001365951.3(KIF1B):c.1590+6A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013635	NM_001365951.3(KIF1B):c.3713T>C (p.Met1238Thr)	KIF1B (M1192T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013512	NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)	MFN2 (T580M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013287	NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)	MED25 (A360T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013215	NM_001605.3(AARS1):c.1223-15C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3012467	NM_170707.4(LMNA):c.1068G>A (p.Leu356=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3011912	NM_030973.4(MED25):c.525+11C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3011512	NM_001605.3(AARS1):c.817-4A>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3010723	NM_170707.4(LMNA):c.645G>C (p.Leu215=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 3010442	NM_170707.4(LMNA):c.1968+19G>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3009818	NM_001605.3(AARS1):c.1494A>G (p.Val498=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3009340	NM_170707.4(LMNA):c.1157+7T>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3008731	NM_170707.4(LMNA):c.1157+30G>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3007269	NM_001365951.3(KIF1B):c.3607C>A (p.His1203Asn)	KIF1B (H1203N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3007101	NM_001605.3(AARS1):c.1647G>A (p.Val549=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3006928	NM_001605.3(AARS1):c.672-10G>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3006628	NM_001605.3(AARS1):c.380G>T (p.Gly127Val)	AARS1 (G127V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3006377	NM_014874.4(MFN2):c.327G>A (p.Lys109=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3006243	NM_001605.3(AARS1):c.962+10C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3005091	NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)	GARS1 (R10G)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3005033	NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)	AARS1 (F441L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3004793	NM_014874.4(MFN2):c.1807A>G (p.Met603Val)	MFN2 (M603V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3003502	NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)	AARS1 (L529P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3003409	NM_001605.3(AARS1):c.81C>G (p.His27Gln)	AARS1 (H27Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3003360	NM_001365951.3(KIF1B):c.3170C>G (p.Ser1057Cys)	KIF1B (S1011C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3002303	NM_014874.4(MFN2):c.925G>A (p.Val309Met)	MFN2 (V309M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3002248	NM_001605.3(AARS1):c.1347+10T>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3001560	NM_030973.4(MED25):c.804C>T (p.Val268=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3000930	NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)	GARS1 (P431R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3000601	NM_001365951.3(KIF1B):c.1909C>G (p.Pro637Ala)	KIF1B (P591A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 3000374	NM_001365951.3(KIF1B):c.4225T>C (p.Tyr1409His)	KIF1B (Y1363H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3000368	NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)	GARS1 (Y413F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2999898	NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)	AARS1 (A118P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2996543	NM_170707.4(LMNA):c.1887G>T (p.Val629=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2996182	NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)	AARS1 (R198Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2996103	NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)	AARS1 (I593T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2995804	NM_170707.4(LMNA):c.996C>T (p.Asp332=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2995670	NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)	AARS1 (L298Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2994579	NM_001605.3(AARS1):c.1672-7C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2994350	NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)	LMNA (R287P +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2993874	NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)	BSCL2, HNRNPUL2-BSCL2 (A367P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2993574	NM_001605.3(AARS1):c.1993-16C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2993315	NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)	AARS1 (E661K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2992563	NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)	LMNA (G600V +6 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2992233	NM_001605.3(AARS1):c.9T>C (p.Ser3=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign

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