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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337385	NM_001371279.1(REEP1):c.*94T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1861	NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5B +5 more	GConflicting classifications of pathogenicity
Select item 1343958	NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)	REEP1 (Q157* +2 more)	Single nucleotide variant (nonsense +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1859	NM_001371279.1(REEP1):c.512del (p.Pro171fs)	REEP1 (P171fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GPathogenic
Select item 219415	NM_001371279.1(REEP1):c.486C>T (p.Asp162=)	REEP1 (T84M)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1343956	NM_001371279.1(REEP1):c.477C>T (p.Ile159=)	REEP1 (S81L)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1073769	NM_001371279.1(REEP1):c.417+1G>A	REEP1	Single nucleotide variant (splice donor variant +1 more)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 1343955	NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs)	REEP1 (A105fs +2 more)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1343954	NM_001371279.1(REEP1):c.344dup (p.Tyr115Ter)	REEP1 (Y115* +2 more)	Duplication (nonsense +1 more)	Hereditary spastic paraplegia	GPathogenic
Select item 1863	NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)	REEP1 (R113* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 31 +2 more	GPathogenic
Select item 130108	NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 5B +4 more	GBenign
Select item 465819	NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys)	REEP1 (Y72C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1343953	NM_001371279.1(REEP1):c.193T>C (p.Tyr65His)	REEP1 (Y38H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1343952	NM_001371279.1(REEP1):c.182+5G>T	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 411804	NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)	REEP1 (W38* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1862	NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	REEP1 (A20E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +2 more	GPathogenic/Likely pathogenic
Select item 1343959	NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)	REEP1 (A20T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1343957	NM_001371279.1(REEP1):c.52del (p.Tyr18fs)	REEP1 (Y18fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia	GLikely pathogenic