ClinVar for MedGen (Select 347618) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442171	NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)	RTN2 (Y66*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 12	GLikely pathogenic
Select item 2435490	NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)	RTN2 (R325G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2435489	NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)	RTN2 (L283F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2433038	NM_005619.5(RTN2):c.926del (p.Gly309fs)	RTN2 (G309fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 12	GLikely pathogenic
Select item 1707642	NM_005619.5(RTN2):c.212G>T (p.Gly71Val)	RTN2 (G71V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 1445728	NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)	RTN2 (R107Q +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1326618	NM_005619.5(RTN2):c.-170GGC[16]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1070023	NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)	RTN2 (E50*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1028922	NM_005619.5(RTN2):c.943C>A (p.Pro315Thr)	RTN2 (P315T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 933606	NM_005619.5(RTN2):c.170del (p.Gly57fs)	RTN2 (G57fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 893823	NM_005619.5(RTN2):c.1034-13C>T	RTN2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893822	NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg)	RTN2 (L321R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12 +1 more	GUncertain significance
Select item 893821	NM_005619.5(RTN2):c.1185G>A (p.Arg395=)	RTN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893524	NM_005619.5(RTN2):c.1241+3G>A	RTN2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893523	NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp)	RTN2 (R107W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893522	NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr)	RTN2 (I401T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893521	NM_005619.5(RTN2):c.1497+3G>A	RTN2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 893520	NM_005619.5(RTN2):c.1607C>T (p.Ala536Val)	RTN2 (A536V +2 more)	Single nucleotide variant (missense variant)	RTN2-related disorder +2 more	GLikely benign
Select item 841510	NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)	RTN2 (S540P +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 653220	NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)	RTN2 (A471T +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 633397	NM_206900.3(RTN2):c.814+791_814+801del	RTN2	Deletion (intron variant)	Hereditary spastic paraplegia 12	GLikely pathogenic
Select item 548603	NM_005619.5(RTN2):c.938dup (p.Thr314fs)	RTN2 (T314fs)	Duplication (frameshift variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 378054	NM_005619.5(RTN2):c.939del (p.Thr314fs)	RTN2 (T314fs)	Deletion (frameshift variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 329550	NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)	RTN2 (S329N)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329546	NM_005619.5(RTN2):c.*51T>C	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GLikely benign
Select item 329545	NM_005619.5(RTN2):c.*148G>A	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329543	NM_005619.5(RTN2):c.*270C>T	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329542	NM_005619.5(RTN2):c.*300G>C	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329541	NM_005619.5(RTN2):c.*344C>T	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 30326	NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe)	RTN2 (S367F +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 30325	NC_000019.10:g.(?_45485294_45497047_?)del	RTN2	Deletion	Hereditary spastic paraplegia 12	GPathogenic
Select item 30324	NM_005619.5(RTN2):c.178dup (p.Arg60fs)	RTN2 (R60fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 12	GPathogenic

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Items: 32