Related gene-specific medical variations for Gene (Select 6253) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1806898	NM_005619.5(RTN2):c.184C>G (p.Leu62Val)	RTN2 (L62V)	Single nucleotide variant (missense variant)	not provided	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 1326250	NM_005619.5(RTN2):c.-170GGC[12]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1295716	NM_005619.5(RTN2):c.-170GGC[10]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1258772	NM_005619.5(RTN2):c.-170GGC[8]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1256158	NM_005619.5(RTN2):c.916G>A (p.Val306Ile)	RTN2 (V306I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1251464	NM_005619.5(RTN2):c.-170GGC[13]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1205579	NM_005619.5(RTN2):c.1033+231C>T	LOC130064701, RTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994450	NM_005619.5(RTN2):c.1497+2T>C	RTN2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 546847	NM_005619.5(RTN2):c.1490A>C (p.Gln497Pro)	RTN2 (Q497P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30325	NC_000019.10:g.(?_45485294_45497047_?)del	RTN2	Deletion	Hereditary spastic paraplegia 12	GPathogenic