"Revvity Omics, Revvity"[submitter] AND "SPG7"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436312	NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)	LOC130059818, SPG7 (P34L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 1323645	NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)	SPG7 (R139*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic/Likely pathogenic
Select item 2436308	NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)	SPG7 (E179Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 805518	NM_003119.4(SPG7):c.619-3C>G	SPG7	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1323644	NM_003119.4(SPG7):c.711del (p.Lys238fs)	SPG7 (K238fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2157620	NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)	SPG7 (S244A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2436311	NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)	SPG7 (K291R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 6819	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SPG7 (G349S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 989045	NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)	SPG7 (V390A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GConflicting classifications of pathogenicity
Select item 886110	NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)	SPG7 (R391Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 1029673	NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)	SPG7 (E396*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic/Likely pathogenic
Select item 2436310	NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)	SPG7 (N434S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Spastic Paraplegia, Recessive +11 more	GPathogenic/Likely pathogenic
Select item 1323646	NM_003119.4(SPG7):c.1704_1705del (p.Lys569fs)	SPG7 (K569fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989129	NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)	SPG7 (G577D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1325120	NM_003119.4(SPG7):c.1936+2T>A	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 220101	NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	SPG7 (D650N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436307	NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)	SPG7 (L809R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance