"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SPG7"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215213	NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	SPG7 (G74R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +3 more	GConflicting classifications of pathogenicity
Select item 844898	NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)	SPG7 (L80del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 6816	NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SPG7 (L78*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +2 more	GPathogenic/Likely pathogenic
Select item 411682	NM_003119.4(SPG7):c.376+1G>T	SPG7	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 949128	NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)	SPG7 (R247*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 504920	NM_003119.4(SPG7):c.773_774del (p.Val258fs)	SPG7 (V258fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 7 +2 more	GPathogenic
Select item 212294	NM_003119.4(SPG7):c.861dup (p.Asn288Ter)	SPG7 (N288*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 139238	NM_003119.4(SPG7):c.987+19G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +2 more	GBenign/Likely benign
Select item 495055	NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)	SPG7 (P350fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 215222	NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser)	SPG7 (P350S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 1310847	NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)	SPG7 (A412V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1434972	NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)	SPG7 (T419I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 411680	NM_003119.4(SPG7):c.1450-1_1457del	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7 +10 more	GPathogenic
Select item 989123	NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)	SPG7 (Q507*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic/Likely pathogenic
Select item 807498	NM_003119.4(SPG7):c.1552+1G>T	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 139243	NM_003119.4(SPG7):c.1664-15C>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +2 more	GBenign/Likely benign
Select item 188276	NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SPG7 (K558*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 217269	NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SPG7 (A572V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 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 7 +2 more	GConflicting classifications of pathogenicity
Select item 1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	CDK10, CHMP1A +9 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic

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Items: 22