ClinVar for MedGen (Select 1648317) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027428	NM_014874.4(MFN2):c.702G>A (p.Met234Ile)	MFN2 (M234I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 2683931	NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)	MFN2 (E539K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 2683912	NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)	MFN2 (Y752N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 2664075	NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)	MFN2 (R275P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 2585501	NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)	MFN2 (L699P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 2585245	NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)	MFN2 (R94L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 2571505	NM_000701.8(ATP1A1):c.1801_1802delinsTT (p.Asp601Phe)	ATP1A1, ATP1A1-AS1 (D570F +1 more)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 2506999	NM_014874.4(MFN2):c.724C>T (p.His242Tyr)	MFN2 (H242Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 2431048	NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)	ATP1A1, ATP1A1-AS1 (A566T +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 2431040	NM_014874.4(MFN2):c.705G>T (p.Gln235His)	MFN2 (Q235H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GPathogenic
Select item 1806999	NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)	MFN2 (R707Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +4 more	GUncertain significance
Select item 1691310	NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg)	MFN2 (S743R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 1478913	NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)	MFN2 (Y462C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 1377782	NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)	MFN2 (R418Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
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 1325800	NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)	MFN2 (T232S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 1325701	NM_014874.4(MFN2):c.781G>C (p.Asp261His)	MFN2 (D261H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 1299489	NM_014874.4(MFN2):c.746C>G (p.Ser249Cys)	MFN2 (S249C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 1048590	NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)	MFN2 (A608T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1042450	NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)	MFN2 (N107K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 1030438	NM_014874.4(MFN2):c.515A>G (p.Gln172Arg)	MFN2 (Q172R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 989288	NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)	MFN2 (S479C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 978264	NM_014874.4(MFN2):c.701T>A (p.Met234Lys)	MFN2 (M234K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 933228	NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)	MFN2 (K307E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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 864426	NM_014874.4(MFN2):c.1083C>G (p.His361Gln)	MFN2 (H361Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GLikely pathogenic
Select item 857318	NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)	MFN2 (R294*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 847704	NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)	MFN2 (A220T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic/Likely pathogenic
Select item 836052	NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)	MFN2 (F223L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 806068	NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)	MFN2 (S431L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 801445	NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)	MFN2 (R364L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 801444	NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)	MFN2 (R280P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 801443	NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)	MFN2 (I213N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 801442	NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)	MFN2 (T206A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 801441	NM_014874.4(MFN2):c.286C>A (p.His96Asn)	MFN2 (H96N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 801440	NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)	MFN2 (R7*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 653774	NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)	MFN2 (E149K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 637746	NM_014874.4(MFN2):c.695C>A (p.Thr232Asn)	MFN2 (T232N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 637433	NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	MFN2 (Q754fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 637283	NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)	MFN2 (A738V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 637281	NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)	MFN2 (R400P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance
Select item 587402	NM_014874.4(MFN2):c.334G>A (p.Val112Met)	MFN2 (V112M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +3 more	GPathogenic/Likely pathogenic
Select item 575589	NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)	MFN2 (L710P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic/Likely pathogenic
Select item 575387	NM_014874.4(MFN2):c.497C>T (p.Ala166Val)	MFN2 (A166V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic/Likely pathogenic
Select item 572169	NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)	MFN2 (Q751*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 572157	NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)	MFN2 (R364P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 568869	NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)	MFN2 (E208D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 545681	NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)	ATP1A1, ATP1A1-AS1 (D811A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 545680	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1, ATP1A1-AS1 (I592T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 545679	NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	ATP1A1, ATP1A1-AS1 (P600T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 545678	NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	ATP1A1, ATP1A1-AS1 (P600A +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GPathogenic
Select item 545677	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1 (L48R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 523025	NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)	MFN2 (R476G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 522942	NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)	MFN2 (R519C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 424772	NM_018706.6(DHTKD1):c.[2143C>T];[2185G>A]			2-aminoadipic 2-oxoadipic aciduria	GLikely pathogenic
Select item 390697	NM_014874.4(MFN2):c.564C>T (p.Cys188=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2A2 +6 more	GBenign/Likely benign
Select item 245944	NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	MFN2 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 245744	NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)	MFN2 (L218P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +2 more	GConflicting classifications of pathogenicity
Select item 243074	NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)	MFN2 (G176S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 243073	NM_014874.4(MFN2):c.479T>G (p.Val160Gly)	MFN2 (V160G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 243067	NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)	MFN2 (R649P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 243066	NM_014874.4(MFN2):c.730G>A (p.Val244Met)	MFN2 (V244M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic
Select item 243057	NM_014874.4(MFN2):c.730G>T (p.Val244Leu)	MFN2 (V244L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GPathogenic
Select item 217165	NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	MFN2 (T236M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 217164	NM_014874.4(MFN2):c.494A>G (p.His165Arg)	MFN2 (H165R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +3 more	GPathogenic
Select item 217163	NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)	MFN2 (L146F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +2 more	GPathogenic/Likely pathogenic
Select item 217162	NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)	MFN2 (Y752*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 217161	NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	MFN2 (M376V)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 214652	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2 (T105M)	Single nucleotide variant (missense variant)	Cerebellar ataxia +3 more	GPathogenic/Likely pathogenic
Select item 214648	NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)	MFN2 (R663C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 202171	NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	MFN2 (S249F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +8 more	GBenign/Likely benign
Select item 155730	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2 (R259C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 138220	NM_014874.4(MFN2):c.165C>T (p.Thr55=)	MFN2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary motor and sensory, type 6A +7 more	GBenign/Likely benign
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +7 more	GBenign/Likely benign
Select item 138210	NM_014874.4(MFN2):c.408A>T (p.Val136=)	MFN2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary motor and sensory, type 6A +7 more	GBenign/Likely benign
Select item 39566	NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	DHTKD1 (Y485*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2Q	GLikely pathogenic
Select item 39565	NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)	DHTKD1 (R410*)	Single nucleotide variant (nonsense)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 39564	NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	DHTKD1 (G729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 39563	NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)	DHTKD1 (M1V)	Single nucleotide variant (missense variant +1 more)	2-aminoadipic 2-oxoadipic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 30738	NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	MFN2 (T362M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GPathogenic/Likely pathogenic
Select item 30735	NM_014874.4(MFN2):c.1392+2T>C	MFN2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +6 more	GBenign/Likely benign
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 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +9 more	GPathogenic/Likely pathogenic
Select item 2278	NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	MFN2 (R364W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic
Select item 2277	NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)	MFN2 (Q276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 +19 more	GPathogenic
Select item 2275	NM_014874.4(MFN2):c.493C>G (p.His165Asp)	MFN2 (H165D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2274	NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)	MFN2 (K357N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2273	NM_014874.4(MFN2):c.205G>T (p.Val69Phe)	MFN2 (V69F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GPathogenic
Select item 2272	NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)	MFN2 (P251A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GPathogenic
Select item 2271	NM_014874.4(MFN2):c.839G>A (p.Arg280His)	MFN2 (R280H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +5 more	GPathogenic
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 2269	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2 (W740S)	Single nucleotide variant (missense variant)	MFN2-Related Disorders +7 more	GPathogenic/Likely pathogenic
Select item 2268	NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	MFN2 (R94Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +5 more	GPathogenic

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Items: 97