"MFN2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476774	NM_014874.4(MFN2):c.72G>T (p.Val24=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder +3 more	GBenign/Likely benign
Select item 292372	NM_014874.4(MFN2):c.474+4A>G	MFN2	Single nucleotide variant (intron variant)	MFN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3061722	NM_014874.4(MFN2):c.474+6G>A	MFN2	Single nucleotide variant (intron variant)	MFN2-related disorder	GLikely benign
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 214653	NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)	MFN2 (R250Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 2632601	NM_014874.4(MFN2):c.802G>C (p.Glu268Gln)	MFN2 (E268Q)	Single nucleotide variant (missense variant)	MFN2-related disorder	GUncertain significance
Select item 390686	NM_014874.4(MFN2):c.870C>T (p.Gly290=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 2171829	NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)	MFN2 (Q296R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 292373	NM_014874.4(MFN2):c.891C>T (p.Ala297=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder +6 more	GBenign/Likely benign
Select item 217161	NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	MFN2 (M376V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +4 more	GPathogenic/Likely pathogenic
Select item 3061141	NM_014874.4(MFN2):c.1155G>A (p.Glu385=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder	GLikely benign
Select item 2628454	NM_014874.4(MFN2):c.1161-2A>G	MFN2	Single nucleotide variant (splice acceptor variant)	MFN2-related disorder	GLikely pathogenic
Select item 3046310	NM_014874.4(MFN2):c.1458C>T (p.Ile486=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder	GLikely benign
Select item 696326	NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)	MFN2 (R510Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1648349	NM_014874.4(MFN2):c.1605T>C (p.Ala535=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder +1 more	GLikely benign
Select item 2630131	NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)	MFN2 (Q538E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 3029072	NM_014874.4(MFN2):c.1691G>C (p.Arg564Pro)	LOC129929426, MFN2 (R564P)	Single nucleotide variant (missense variant)	MFN2-related disorder	GUncertain significance
Select item 700594	NM_014874.4(MFN2):c.1717-9_1717-6del	MFN2	Microsatellite (intron variant)	MFN2-related disorder +1 more	GLikely benign
Select item 702053	NM_014874.4(MFN2):c.1815C>T (p.Thr605=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1562230	NM_014874.4(MFN2):c.1980C>T (p.Ala660=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	Peripheral axonal neuropathy +8 more	GPathogenic/Likely pathogenic
Select item 292378	NM_014874.4(MFN2):c.2145C>T (p.Ala715=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 573744	NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)	MFN2 (L724P)	Single nucleotide variant (missense variant)	MFN2-related disorder +1 more	GPathogenic

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Items: 23