"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 329547	NM_005619.5(RTN2):c.1593C>T (p.Ala531=)	RTN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 1343963	NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys)	RTN2 (Y155C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 805277	NM_005619.5(RTN2):c.1476C>G (p.Pro492=)	RTN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1343962	NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)	RTN2 (R333Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448170	NM_005619.5(RTN2):c.1210G>A (p.Val404Met)	RTN2 (V404M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 329549	NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)	RTN2 (G317S +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 240192	NM_005619.5(RTN2):c.1143G>A (p.Ala381=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia, autosomal dominant +4 more	GBenign/Likely benign
Select item 1343961	NM_005619.5(RTN2):c.1068G>A (p.Thr356=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 380937	NM_005619.5(RTN2):c.792C>A (p.Phe264Leu)	RTN2 (F264L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1343968	NM_005619.5(RTN2):c.764G>T (p.Cys255Phe)	RTN2 (C255F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 697711	NM_005619.5(RTN2):c.672G>A (p.Ser224=)	RTN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 1343966	NM_005619.5(RTN2):c.653C>T (p.Thr218Ile)	RTN2 (T218I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 240194	NM_005619.5(RTN2):c.444C>G (p.Gly148=)	RTN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 240193	NM_005619.5(RTN2):c.351A>G (p.Gln117=)	RTN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1343965	NM_005619.5(RTN2):c.253C>T (p.Arg85Cys)	RTN2 (R85C)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1343967	NM_005619.5(RTN2):c.68A>G (p.Asp23Gly)	RTN2 (D23G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 383326	NM_005619.5(RTN2):c.51A>G (p.Thr17=)	RTN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 1295716	NM_005619.5(RTN2):c.-170GGC[10]	LOC130064702, RTN2	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity