ClinVar for MedGen (Select 140747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339945	GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1	MFN2	Copy number loss	Charcot-Marie-Tooth disease type 2A2 +2 more	Gnot provided
Select item 1048600	NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)	MTRFR (L6fs)	Deletion (frameshift variant)	Hereditary motor and sensory neuropathy with optic atrophy	GLikely pathogenic
Select item 930428	NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr)	MFN2 (S593T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 876836	NM_014874.4(MFN2):c.*1830C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 876835	NM_014874.4(MFN2):c.*1763G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 876834	NM_014874.4(MFN2):c.*1662T>C	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 876785	NM_014874.4(MFN2):c.*1054C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 876736	NM_014874.4(MFN2):c.*304A>G	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 876543	NM_014874.3(MFN2):c.-382G>A	LOC129929423, MFN2	Single nucleotide variant	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 875789	NM_014874.4(MFN2):c.*1034C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 875745	NM_014874.4(MFN2):c.*226C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 875744	NM_014874.4(MFN2):c.*131G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 875697	NM_014874.4(MFN2):c.1938C>A (p.Val646=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 875596	NM_014874.4(MFN2):c.-80C>T	MFN2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 875540	NM_014874.3(MFN2):c.-468G>A	LOC129929423, MFN2	Single nucleotide variant	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 874907	NM_014874.4(MFN2):c.*1535C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 874854	NM_014874.4(MFN2):c.*813G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 874805	NM_014874.4(MFN2):c.*26G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GBenign/Likely benign
Select item 874804	NM_014874.4(MFN2):c.2211A>G (p.Lys737=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 874760	NM_014874.4(MFN2):c.1716+8A>G	LOC129929426, MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GConflicting classifications of pathogenicity
Select item 874759	NM_014874.4(MFN2):c.1631A>G (p.His544Arg)	MFN2 (H544R)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 874027	NM_014874.4(MFN2):c.*1902C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 873970	NM_014874.4(MFN2):c.*1222G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 873908	NM_014874.4(MFN2):c.*381C>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 873853	NM_014874.4(MFN2):c.2204+13C>T	MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GConflicting classifications of pathogenicity
Select item 873748	NM_014874.4(MFN2):c.271G>A (p.Val91Met)	MFN2 (V91M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +4 more	GUncertain significance
Select item 873747	NM_014874.4(MFN2):c.205G>A (p.Val69Ile)	MFN2 (V69I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 873671	NM_014874.3(MFN2):c.-359C>G	LOC129929423, MFN2	Single nucleotide variant	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 543217	NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)	MFN2 (L504P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543176	NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)	MFN2 (V620I)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
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 488546	NM_014874.4(MFN2):c.1839dup (p.Thr614fs)	MFN2 (T614fs)	Duplication (frameshift variant)	Hereditary motor and sensory neuropathy with optic atrophy	GLikely pathogenic
Select item 437424	NM_014874.4(MFN2):c.720C>G (p.Phe240Leu)	MFN2 (F240L)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy	GLikely pathogenic
Select item 385692	NM_014874.4(MFN2):c.522T>C (p.His174=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 378135	NM_014874.4(MFN2):c.2157G>A (p.Lys719=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 372790	NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)	MFN2 (R418*)	Single nucleotide variant (nonsense)	Hereditary motor and sensory neuropathy with optic atrophy +2 more	GPathogenic/Likely pathogenic
Select item 292412	NM_014874.4(MFN2):c.*1706T>G	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 292409	NM_014874.4(MFN2):c.*1576C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292408	NM_014874.4(MFN2):c.*1562G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292407	NM_014874.4(MFN2):c.*1546G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292406	NM_014874.4(MFN2):c.*1539G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292405	NM_014874.4(MFN2):c.*1488C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292404	NM_014874.4(MFN2):c.*1392A>G	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292403	NM_014874.4(MFN2):c.*1295G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292402	NM_014874.4(MFN2):c.*1276G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292401	NM_014874.4(MFN2):c.*1258G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292400	NM_014874.4(MFN2):c.*1161C>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292399	NM_014874.4(MFN2):c.*1153C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292398	NM_014874.4(MFN2):c.*1100A>G	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292397	NM_014874.4(MFN2):c.*1068C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292396	NM_014874.4(MFN2):c.*946C>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292394	NM_014874.4(MFN2):c.*912C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292393	NM_014874.4(MFN2):c.*896G>C	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292392	NM_014874.4(MFN2):c.*870C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292391	NM_014874.4(MFN2):c.*864T>C	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292390	NM_014874.4(MFN2):c.*777T>C	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292389	NM_014874.4(MFN2):c.*730C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292387	NM_014874.4(MFN2):c.*413C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292386	NM_014874.4(MFN2):c.*297T>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292385	NM_014874.4(MFN2):c.*256G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292384	NM_014874.4(MFN2):c.*231G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign
Select item 292381	NM_014874.4(MFN2):c.*58A>G	MFN2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 292380	NM_014874.4(MFN2):c.*57C>T	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292379	NM_014874.4(MFN2):c.*36G>A	MFN2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292378	NM_014874.4(MFN2):c.2145C>T (p.Ala715=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 292377	NM_014874.4(MFN2):c.1950G>A (p.Leu650=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 292376	NM_014874.4(MFN2):c.1818C>T (p.Gly606=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +2 more	GLikely benign
Select item 292375	NM_014874.4(MFN2):c.1659G>A (p.Val553=)	LOC129929426, MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292374	NM_014874.4(MFN2):c.1269G>A (p.Thr423=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 292373	NM_014874.4(MFN2):c.891C>T (p.Ala297=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 292372	NM_014874.4(MFN2):c.474+4A>G	MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +3 more	GConflicting classifications of pathogenicity
Select item 292371	NM_014874.4(MFN2):c.153G>T (p.Gln51His)	MFN2 (Q51H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292370	NM_014874.4(MFN2):c.-4-13G>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
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 292368	NM_014874.3(MFN2):c.-212T>C	MFN2, PLOD1	Single nucleotide variant	Hereditary motor and sensory neuropathy +4 more	GBenign
Select item 292367	NM_014874.3(MFN2):c.-217C>A	MFN2	Single nucleotide variant	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 292365	NM_014874.3(MFN2):c.-287C>T	MFN2	Single nucleotide variant	Hereditary motor and sensory neuropathy +3 more	GBenign/Likely benign
Select item 292364	NM_014874.3(MFN2):c.-328T>A	LOC129929423, MFN2	Single nucleotide variant	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292363	NM_014874.3(MFN2):c.-344C>T	LOC129929423, MFN2	Single nucleotide variant	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292362	NM_014874.3(MFN2):c.-367A>G	LOC129929423, MFN2 +1 more	Single nucleotide variant	Hereditary motor and sensory neuropathy +4 more	GBenign
Select item 246508	NM_014874.4(MFN2):c.179C>T (p.Thr60Met)	MFN2 (T60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 240945	NM_014874.4(MFN2):c.1946G>A (p.Arg649His)	MFN2 (R649H)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 219952	NM_014874.4(MFN2):c.1920C>G (p.Leu640=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 217161	NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	MFN2 (M376V)	Single nucleotide variant (missense variant)	MFN2-related condition +4 more	GPathogenic/Likely pathogenic
Select item 215515	NM_014874.4(MFN2):c.1495+9C>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 214656	NM_014874.4(MFN2):c.58C>T (p.His20Tyr)	MFN2 (H20Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 214649	NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)	MFN2 (A716T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 214648	NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)	MFN2 (R663C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 214643	NM_014874.4(MFN2):c.898C>T (p.Arg300Cys)	MFN2 (R300C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 214642	NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)	MFN2 (C281S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +6 more	GConflicting classifications of pathogenicity
Select item 214639	NM_014874.4(MFN2):c.159C>T (p.Ser53=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 214638	NM_014874.4(MFN2):c.2205-13C>A	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 214635	NM_014874.4(MFN2):c.1806C>T (p.Ser602=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +8 more	GBenign/Likely benign
Select item 198868	NM_014874.4(MFN2):c.756C>T (p.Asn252=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 194409	NM_014874.4(MFN2):c.1452G>A (p.Thr484=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 193715	NM_014874.4(MFN2):c.975C>T (p.Gly325=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign
Select item 138220	NM_014874.4(MFN2):c.165C>T (p.Thr55=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GBenign/Likely benign
Select item 138219	NM_014874.4(MFN2):c.150C>A (p.Ile50=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign

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