List of variants in gene SPG7 reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 98

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)	rs2099104	0.00073
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	rs140769107	0.00061
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)	rs201543030	0.00024
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	rs114854791	0.00022
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)	rs199689138	0.00015
NM_003119.4(SPG7):c.782C>T (p.Thr261Met)	rs370949294	0.00014
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)	rs147673636	0.00010
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln)	rs757160836	0.00009
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)	rs201005087	0.00009
NM_003119.4(SPG7):c.454A>G (p.Met152Val)	rs146186857	0.00009
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)	rs145776296	0.00009
NM_003119.4(SPG7):c.1049C>A (p.Pro350His)	rs376254211	0.00008
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn)	rs762049799	0.00005
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)	rs748024868	0.00004
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile)	rs115999025	0.00004
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys)	rs536084933	0.00004
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)	rs747521455	0.00004
NM_003119.4(SPG7):c.1305G>T (p.Gln435His)	rs559906913	0.00003
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)	rs147706568	0.00003
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu)	rs149474131	0.00003
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr)	rs777638594	0.00003
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)	rs376397768	0.00003
NM_003119.4(SPG7):c.703A>G (p.Ile235Val)	rs191022979	0.00003
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)	rs577389704	0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)	rs764645740	0.00002
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)	rs770487062	0.00002
NM_003119.4(SPG7):c.313A>T (p.Arg105Trp)	rs374082677	0.00002
NM_003119.4(SPG7):c.359C>T (p.Ala120Val)	rs530877336	0.00002
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys)	rs863224217	0.00002
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)	rs537421502	0.00001
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala)	rs1567914095	0.00001
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met)	rs754903980	0.00001
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)	rs776176403	0.00001
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp)	rs1057524520	0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)	rs746668495	0.00001
NM_003119.4(SPG7):c.1247A>G (p.Lys416Arg)	rs1025013854	0.00001
NM_003119.4(SPG7):c.1261A>G (p.Met421Val)	rs1314587362	0.00001
NM_003119.4(SPG7):c.1364C>T (p.Thr455Met)	rs780654018	0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)	rs756535079	0.00001
NM_003119.4(SPG7):c.1573T>C (p.Cys525Arg)	rs2058586638	0.00001
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp)	rs863224220	0.00001
NM_003119.4(SPG7):c.1771G>A (p.Val591Met)	rs199804717	0.00001
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	rs864622507	0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=)	rs746082965	0.00001
NM_003119.4(SPG7):c.1976A>G (p.Tyr659Cys)	rs1052772091	0.00001
NM_003119.4(SPG7):c.211A>G (p.Thr71Ala)	rs753973274	0.00001
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys)	rs374302115	0.00001
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)	rs776661222	0.00001
NM_003119.4(SPG7):c.2181G>A (p.Ala727=)	rs753423781	0.00001
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val)	rs1433673841	0.00001
NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu)	rs372231786	0.00001
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)	rs374941242	0.00001
NM_003119.4(SPG7):c.2314G>T (p.Asp772Tyr)	rs1235854891	0.00001
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)	rs762017481	0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys)	rs774326531	0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln)	rs948625936	0.00001
NM_003119.4(SPG7):c.601G>A (p.Val201Met)	rs775545751	0.00001
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)	rs1476574056	0.00001
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg)	rs771060044	0.00001
NM_003119.4(SPG7):c.941T>C (p.Met314Thr)	rs863224219	0.00001
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)	rs1051219206
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	rs199789849
NM_003119.4(SPG7):c.1075G>A (p.Ala359Thr)
NM_003119.4(SPG7):c.1118T>C (p.Met373Thr)
NM_003119.4(SPG7):c.1135G>A (p.Val379Met)	rs766085257
NM_003119.4(SPG7):c.1146T>G (p.Ile382Met)
NM_003119.4(SPG7):c.1166G>T (p.Arg389Leu)	rs770100474
NM_003119.4(SPG7):c.1168G>A (p.Val390Met)
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln)	rs771782004
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)	rs745444834
NM_003119.4(SPG7):c.1310T>G (p.Leu437Arg)
NM_003119.4(SPG7):c.1324+4143C>T	rs2543786803
NM_003119.4(SPG7):c.1502C>T (p.Ser501Phe)	rs2543825753
NM_003119.4(SPG7):c.1531G>A (p.Glu511Lys)
NM_003119.4(SPG7):c.1613C>G (p.Thr538Ser)	rs1160298693
NM_003119.4(SPG7):c.1694A>G (p.Lys565Arg)
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	rs151249432
NM_003119.4(SPG7):c.1760A>C (p.His587Pro)	rs1057524632
NM_003119.4(SPG7):c.1834A>G (p.Arg612Gly)
NM_003119.4(SPG7):c.1851C>G (p.Phe617Leu)
NM_003119.4(SPG7):c.188T>C (p.Leu63Ser)
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln)	rs863224221
NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe)	rs769512676
NM_003119.4(SPG7):c.2050A>T (p.Met684Leu)	rs373577226
NM_003119.4(SPG7):c.2098G>A (p.Asp700Asn)	rs2058662790
NM_003119.4(SPG7):c.2146A>G (p.Lys716Glu)
NM_003119.4(SPG7):c.2182-881A>G	rs903594842
NM_003119.4(SPG7):c.2326del (p.Glu776fs)
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)	rs527363502
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn)	rs863224218
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)	rs377268309
NM_003119.4(SPG7):c.498C>T (p.Ser166=)	rs780508442
NM_003119.4(SPG7):c.663G>C (p.Lys221Asn)
NM_003119.4(SPG7):c.697C>T (p.Leu233=)	rs751353500
NM_003119.4(SPG7):c.759-5G>A	rs376467458
NM_003119.4(SPG7):c.859T>C (p.Phe287Leu)
NM_003119.4(SPG7):c.880C>G (p.Arg294Gly)	rs1161309952

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