ClinVar for MedGen (Select 482607) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255229	NM_006796.3(AFG3L2):c.245dup (p.Asn82fs)	AFG3L2 (N82fs)	Duplication (frameshift variant)	Spastic ataxia 5	GPathogenic
Select item 2664732	NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)	AFG3L2 (A572T)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +2 more	GConflicting classifications of pathogenicity
Select item 2627485	NM_006796.3(AFG3L2):c.361A>C (p.Lys121Gln)	AFG3L2 (K121Q)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GUncertain significance
Select item 2627484	NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)	AFG3L2, TUBB6	Single nucleotide variant (stop lost +1 more)	Spastic ataxia 5 +1 more	GUncertain significance
Select item 1810409	NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)	AFG3L2 (W583*)	Single nucleotide variant (nonsense)	Spastic ataxia 5 +1 more	GLikely pathogenic
Select item 1676883	NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	AFG3L2 (D460N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1256165	NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	AFG3L2, TUBB6 (L772I)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 12 +3 more	GUncertain significance
Select item 1188960	NM_006796.3(AFG3L2):c.753-55T>C	AFG3L2	Single nucleotide variant (intron variant)	Spastic ataxia 5 +3 more	GBenign
Select item 1032494	NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr)	AFG3L2 (H3Y)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +1 more	GUncertain significance
Select item 1030157	NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys)	AFG3L2 (E501K)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GUncertain significance
Select item 1027438	NM_006796.3(AFG3L2):c.634dup (p.Val212fs)	AFG3L2 (V212fs)	Duplication (frameshift variant)	Spastic ataxia 5	GPathogenic
Select item 973204	NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	AFG3L2 (K306E)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GPathogenic
Select item 973202	NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)	AFG3L2 (Q620K)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GPathogenic
Select item 973201	NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer)	AFG3L2	Microsatellite (nonsense)	Spastic ataxia 5	GPathogenic
Select item 973111	NM_006796.3(AFG3L2):c.[1901_1902del;916A>G]	AFG3L2 (K306E)	Microsatellite (nonsense +1 more)	Dystonic disorder +2 more	GPathogenic
Select item 973107	NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]	AFG3L2 (A462V +1 more)	Single nucleotide variant (missense variant)	Spasticity +4 more	GPathogenic
Select item 548568	NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)	AFG3L2 (V191I)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +2 more	GUncertain significance
Select item 546814	NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	AFG3L2 (A462V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 446813	NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp)	AFG3L2 (R280W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374935	NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)	AFG3L2 (R651G)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GLikely pathogenic
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spastic ataxia 5 +3 more	GBenign
Select item 214062	NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	AFG3L2 (V723M)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +4 more	GConflicting classifications of pathogenicity
Select item 214057	NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	TUBB6, AFG3L2 (L772F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214053	NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	AFG3L2 (P466L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 162524	NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	AFG3L2 (M625I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28 +1 more	GLikely pathogenic
Select item 136312	NM_006796.3(AFG3L2):c.752+6C>T	AFG3L2	Single nucleotide variant (intron variant)	Spastic ataxia 5 +4 more	GBenign
Select item 128287	NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 128286	NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 30427	NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	AFG3L2 (Y616C)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +1 more	GPathogenic
Select item 30423	NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	AFG3L2 (M666V)	Single nucleotide variant (missense variant)	Optic atrophy 12 +3 more	GPathogenic/Likely pathogenic

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Items: 30