"Ambry Genetics"[submitter] AND "SPG7"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215198	NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	LOC130059818, SPG7 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 862744	NM_003119.4(SPG7):c.25C>T (p.Arg9Cys)	LOC130059818, SPG7 (R9C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 239500	NM_003119.4(SPG7):c.80C>G (p.Pro27Arg)	LOC130059818, SPG7 (P27R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 2513393	NM_003119.4(SPG7):c.119G>T (p.Gly40Val)	LOC130059818, SPG7 (G40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545689	NM_003119.4(SPG7):c.190C>G (p.Gln64Glu)	SPG7 (Q64E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285245	NM_003119.4(SPG7):c.197G>T (p.Arg66Ile)	SPG7 (R66I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 378639	NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)	SPG7 (Q82E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1948076	NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)	SPG7 (R90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2272381	NM_003119.4(SPG7):c.314G>A (p.Arg105Lys)	SPG7 (R105K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554422	NM_003119.4(SPG7):c.321G>C (p.Lys107Asn)	SPG7 (K107N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448473	NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)	SPG7 (K111E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 521196	NM_003119.4(SPG7):c.347C>A (p.Ser116Ter)	SPG7 (S116*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1899293	NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)	SPG7 (G118E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2610112	NM_003119.4(SPG7):c.593C>T (p.Pro198Leu)	SPG7 (P198L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229457	NM_003119.4(SPG7):c.619-3C>T	SPG7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2303226	NM_003119.4(SPG7):c.635A>G (p.Tyr212Cys)	SPG7 (Y212C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 280575	NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)	SPG7 (R227*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 215207	NM_003119.4(SPG7):c.782C>T (p.Thr261Met)	SPG7 (T261M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1407118	NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr)	SPG7 (A345T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 6819	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SPG7 (G349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2496379	NM_003119.4(SPG7):c.1166G>A (p.Arg389His)	SPG7 (R389H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543053	NM_003119.4(SPG7):c.1294A>G (p.Thr432Ala)	SPG7 (T432A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 215188	NM_003119.4(SPG7):c.1324+4173C>T	SPG7 (L457F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 378640	NM_003119.4(SPG7):c.1325-6C>T	SPG7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 644622	NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)	SPG7 (R470Q)	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)	Spastic Paraplegia, Recessive +11 more	GPathogenic/Likely pathogenic
Select item 2107622	NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)	SPG7 (I521M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 2305656	NM_003119.4(SPG7):c.1598C>T (p.Ala533Val)	SPG7 (A533V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533733	NM_003119.4(SPG7):c.1654G>A (p.Val552Ile)	SPG7 (V552I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 188276	NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SPG7 (K558*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 888381	NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)	SPG7 (E567K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 2261029	NM_003119.4(SPG7):c.1741G>A (p.Val581Met)	SPG7 (V581M +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1441268	NM_003119.4(SPG7):c.1752G>C (p.Met584Ile)	SPG7 (M584I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 215216	NM_003119.4(SPG7):c.1771G>A (p.Val591Met)	SPG7 (V591M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1060812	NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)	SPG7 (R599W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1380458	NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)	SPG7 (R688W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2263754	NM_003119.4(SPG7):c.2114T>G (p.Leu705Arg)	SPG7 (L705R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312611	NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)	SPG7 (K716N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2530099	NM_003119.4(SPG7):c.2157G>C (p.Gln719His)	SPG7 (Q719H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622139	NM_003119.4(SPG7):c.2221G>C (p.Glu741Gln)	SPG7 (E741Q)	Single nucleotide variant (stop lost +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488486	NM_003119.4(SPG7):c.2317T>G (p.Leu773Val)	SPG7 (L773V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206225	NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)	SPG7 (E789Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance

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Items: 44