"GeneDx"[submitter] AND "MFN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 1290963	NC_000001.11:g.11980146A>G	LOC129929423, MFN2	Single nucleotide variant	not provided	GBenign
Select item 1691168	NC_000001.11:g.11980149T>G	LOC129929423, MFN2	Single nucleotide variant	not provided	GLikely benign
Select item 292362	NM_014874.3(MFN2):c.-367A>G	LOC129929423, MFN2 +1 more	Single nucleotide variant	not provided +4 more	GBenign
Select item 292365	NM_014874.3(MFN2):c.-287C>T	MFN2	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 292366	NM_014874.3(MFN2):c.-249T>A	MFN2	Single nucleotide variant	Hereditary motor and sensory neuropathy +3 more	GBenign/Likely benign
Select item 292368	NM_014874.3(MFN2):c.-212T>C	MFN2, PLOD1	Single nucleotide variant	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +4 more	GBenign
Select item 292369	NM_014874.4(MFN2):c.-161G>A	MFN2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 245866	NM_014874.4(MFN2):c.-150+4A>T	MFN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 379192	NM_014874.4(MFN2):c.-150+19C>T	LOC129929424, MFN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379548	NM_014874.4(MFN2):c.-150+20G>A	LOC129929424, MFN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1691171	NM_014874.4(MFN2):c.-149-46_-149-45insGTTTTTTTTT	MFN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1251375	NM_014874.4(MFN2):c.-149-43_-149-38dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1243265	NM_014874.4(MFN2):c.-149-45_-149-38dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1238604	NM_014874.4(MFN2):c.-149-44_-149-38dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 507784	NM_014874.4(MFN2):c.-149-20C>A	MFN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 138214	NM_014874.4(MFN2):c.-149-15T>G	MFN2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 511265	NM_014874.4(MFN2):c.-10A>G	MFN2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1279097	NM_014874.4(MFN2):c.-5+90A>G	LOC129929425, MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229802	NM_014874.4(MFN2):c.-5+127C>T	LOC129929425, MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200694	NM_014874.4(MFN2):c.-4-221C>A	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292370	NM_014874.4(MFN2):c.-4-13G>T	MFN2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 214656	NM_014874.4(MFN2):c.58C>T (p.His20Tyr)	MFN2 (H20Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 476774	NM_014874.4(MFN2):c.72G>T (p.Val24=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 30734	NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)	MFN2 (K38del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 138219	NM_014874.4(MFN2):c.150C>A (p.Ile50=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign/Likely benign
Select item 214639	NM_014874.4(MFN2):c.159C>T (p.Ser53=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign/Likely benign
Select item 214657	NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)	MFN2 (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 451931	NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)	MFN2 (T55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 138220	NM_014874.4(MFN2):c.165C>T (p.Thr55=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 514444	NM_014874.4(MFN2):c.171T>C (p.Leu57=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 499726	NM_014874.4(MFN2):c.175+9G>A	MFN2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 678311	NM_014874.4(MFN2):c.175+219_175+220del	MFN2	Deletion (intron variant)	not provided	GBenign
Select item 683180	NM_014874.4(MFN2):c.176-207G>A	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679033	NM_014874.4(MFN2):c.176-200G>T	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675533	NM_014874.4(MFN2):c.176-59C>G	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516211	NM_014874.4(MFN2):c.176-7C>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 246508	NM_014874.4(MFN2):c.179C>T (p.Thr60Met)	MFN2 (T60M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408320	NM_014874.4(MFN2):c.187A>C (p.Asn63His)	MFN2 (N63H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1423906	NM_014874.4(MFN2):c.190G>A (p.Ala64Thr)	MFN2 (A64T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 509823	NM_014874.4(MFN2):c.204C>T (p.Pro68=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2270	NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)	MFN2 (L76P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 949776	NM_014874.4(MFN2):c.248C>G (p.Ser83Cys)	MFN2 (S83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 451403	NM_014874.4(MFN2):c.254T>C (p.Val85Ala)	MFN2 (V85A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 543168	NM_014874.4(MFN2):c.264C>G (p.Ile88Met)	MFN2 (I88M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +21 more	GPathogenic
Select item 2268	NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	MFN2 (R94Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 2281	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2 (R104W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GPathogenic
Select item 637289	NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)	MFN2 (R104Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 514815	NM_014874.4(MFN2):c.311+8C>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 388108	NM_014874.4(MFN2):c.311+9T>C	MFN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1289498	NM_014874.4(MFN2):c.311+287_311+289dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1272100	NM_014874.4(MFN2):c.311+286_311+289dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1265688	NM_014874.4(MFN2):c.311+289dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1241559	NM_014874.4(MFN2):c.311+285_311+289dup	MFN2	Duplication (intron variant)	not provided	GBenign
Select item 1190817	NM_014874.4(MFN2):c.311+288_311+289dup	MFN2	Duplication (intron variant)	not provided	GLikely benign
Select item 673738	NM_014874.4(MFN2):c.311+315A>G	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675560	NM_014874.4(MFN2):c.312-138C>G	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382039	NM_014874.4(MFN2):c.312-19A>G	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2430747	NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)	MFN2 (K120E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1193107	NM_014874.4(MFN2):c.382C>T (p.His128Tyr)	MFN2 (H128Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 637721	NM_014874.4(MFN2):c.383A>G (p.His128Arg)	MFN2 (H128R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 369728	NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)	MFN2 (N131S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 451440	NM_014874.4(MFN2):c.406dup (p.Val136fs)	MFN2 (V136fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 549683	NM_014874.4(MFN2):c.404G>A (p.Arg135Gln)	MFN2 (R135Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 138210	NM_014874.4(MFN2):c.408A>T (p.Val136=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 3367503	NM_014874.4(MFN2):c.431C>T (p.Ala144Val)	MFN2 (A144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217163	NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)	MFN2 (L146F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic/Likely pathogenic
Select item 385552	NM_014874.4(MFN2):c.444C>T (p.Thr148=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1307827	NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp)	MFN2	Indel (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1180064	NM_014874.4(MFN2):c.474+65C>T	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213106	NM_014874.4(MFN2):c.474+86A>C	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219670	NM_014874.4(MFN2):c.474+88G>C	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267651	NM_014874.4(MFN2):c.474+278A>G	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216222	NM_014874.4(MFN2):c.475-259C>A	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189066	NM_014874.4(MFN2):c.475-240dup	MFN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1279146	NM_014874.4(MFN2):c.475-240del	MFN2	Deletion (intron variant)	not provided	GBenign
Select item 1269875	NM_014874.4(MFN2):c.475-241_475-240del	MFN2	Deletion (intron variant)	not provided	GBenign
Select item 1219041	NM_014874.4(MFN2):c.475-232T>G	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218725	NM_014874.4(MFN2):c.475-38T>C	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214028	NM_014874.4(MFN2):c.475-33C>T	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 217164	NM_014874.4(MFN2):c.494A>G (p.His165Arg)	MFN2 (H165R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +3 more	GPathogenic
Select item 3368678	NM_014874.4(MFN2):c.504C>A (p.His168Gln)	MFN2 (H168Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385692	NM_014874.4(MFN2):c.522T>C (p.His174=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +3 more	GBenign/Likely benign
Select item 1243872	NM_014874.4(MFN2):c.525C>T (p.Ala175=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 214640	NM_014874.4(MFN2):c.541G>A (p.Val181Met)	MFN2 (V181M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 390697	NM_014874.4(MFN2):c.564C>T (p.Cys188=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 246494	NM_014874.4(MFN2):c.572T>C (p.Leu191Pro)	MFN2 (L191P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675534	NM_014874.4(MFN2):c.599+109A>G	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675535	NM_014874.4(MFN2):c.599+115A>C	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677809	NM_014874.4(MFN2):c.600-247G>A	MFN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256860	NM_014874.4(MFN2):c.600-220AAAAC[4]	MFN2	Microsatellite (intron variant)	not provided	GBenign
Select item 670701	NM_014874.4(MFN2):c.600-116G>A	MFN2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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