C1846564[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258910	NM_003119.4(SPG7):c.618+12T>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +2 more	GBenign
Select item 258911	NM_003119.4(SPG7):c.987+5A>G	SPG7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 6819	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SPG7 (G349S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +3 more	GPathogenic/Likely pathogenic
Select item 654119	NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	SPG7 (P350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7 +10 more	GPathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	SPG7-related condition +11 more	GPathogenic/Likely pathogenic
Select item 139242	NM_003119.4(SPG7):c.1663+13C>T	SPG7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 932346	NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)	SPG7 (G632R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 465175	NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)	SPG7 (L706fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 215219	NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	SPG7 (A759T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity