"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138219	NM_014874.4(MFN2):c.150C>A (p.Ile50=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 214639	NM_014874.4(MFN2):c.159C>T (p.Ser53=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +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 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 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Abnormal dental enamel morphology +19 more	GPathogenic
Select item 138210	NM_014874.4(MFN2):c.408A>T (p.Val136=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 439897	NM_014874.4(MFN2):c.493C>T (p.His165Tyr)	MFN2 (H165Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 138211	NM_014874.4(MFN2):c.744C>T (p.Leu248=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +8 more	GBenign/Likely benign
Select item 138212	NM_014874.4(MFN2):c.957C>T (p.Gly319=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 439898	NM_014874.4(MFN2):c.1101G>C (p.Gln367His)	MFN2 (Q367H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 194091	NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)	MFN2 (M393I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 994113	NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe)	MFN2 (L459F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 194409	NM_014874.4(MFN2):c.1452G>A (p.Thr484=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign/Likely benign
Select item 215515	NM_014874.4(MFN2):c.1495+9C>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 439899	NM_014874.4(MFN2):c.1537A>G (p.Ile513Val)	MFN2 (I513V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 138216	NM_014874.4(MFN2):c.1641C>T (p.Leu547=)	LOC129929426, MFN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 246602	NM_014874.4(MFN2):c.1729A>G (p.Ile577Val)	MFN2 (I577V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214636	NM_014874.4(MFN2):c.1827C>T (p.Ser609=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +7 more	GBenign/Likely benign
Select item 214638	NM_014874.4(MFN2):c.2205-13C>A	MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign
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 292381	NM_014874.4(MFN2):c.*58A>G	MFN2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign

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Items: 24