ClinVar for MedGen (Select 339552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066377	NM_003119.4(SPG7):c.1853C>T (p.Thr618Ile)	SPG7 (T618I)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3066376	NM_003119.4(SPG7):c.377-7G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3023838	NM_003119.4(SPG7):c.1497C>A (p.Thr499=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3017046	NM_003119.4(SPG7):c.1324+15G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3016837	NM_003119.4(SPG7):c.246A>G (p.Gln82=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3015659	NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)	SPG7 (P750S)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015623	NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)	SPG7 (G276R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015348	NM_003119.4(SPG7):c.1645G>A (p.Val549Met)	SPG7 (V549M)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015321	NM_003119.4(SPG7):c.192A>G (p.Gln64=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3011002	NM_003119.4(SPG7):c.1728G>C (p.Ser576=)	SPG7 (R172P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2995990	NM_003119.4(SPG7):c.183+12C>A	LOC130059818, SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2995534	NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)	SPG7 (P14A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2994114	NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)	SPG7 (A590D)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2972495	NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2969882	NM_003119.4(SPG7):c.630G>A (p.Leu210=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2965421	NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)	SPG7 (F324L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2963126	NM_003119.4(SPG7):c.792C>T (p.Gly264=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2962679	NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)	SPG7 (A708V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2914800	NM_003119.4(SPG7):c.248A>G (p.His83Arg)	SPG7 (H83R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2914556	NM_003119.4(SPG7):c.1324+11G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2911512	NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)	LOC130059818, SPG7 (P34T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2911138	NM_003119.4(SPG7):c.861+20G>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2910085	NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)	SPG7 (V571F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2903628	NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)	SPG7 (R207Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2901289	NM_003119.4(SPG7):c.1150+9T>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2898754	NM_003119.4(SPG7):c.619-10T>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2898676	NM_003119.4(SPG7):c.861T>C (p.Phe287=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2895974	NM_003119.4(SPG7):c.619-20C>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2891051	NM_003119.4(SPG7):c.16C>T (p.Leu6=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2890638	NM_003119.4(SPG7):c.1552+4_1552+11dup	SPG7	Duplication (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2889594	NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)	SPG7 (A200T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2888373	NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)	SPG7	Duplication (inframe_insertion)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2886262	NM_003119.4(SPG7):c.2322C>T (p.Gly774=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2884757	NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)	LOC130059818, SPG7 (L4P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2883687	NM_003119.4(SPG7):c.372C>T (p.Asp124=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2882994	NM_003119.4(SPG7):c.402C>T (p.Asp134=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2878864	NM_003119.4(SPG7):c.759-11del	SPG7	Deletion (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2878281	NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)	SPG7 (I407L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2876489	NM_003119.4(SPG7):c.132G>A (p.Met44Ile)	LOC130059818, SPG7 (M44I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2872186	NM_003119.4(SPG7):c.339G>A (p.Lys113=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2871473	NM_003119.4(SPG7):c.1668T>G (p.Thr556=)	SPG7 (L152R)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2866779	NM_003119.4(SPG7):c.1325-12_1325-11del	SPG7	Microsatellite (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2866012	NM_003119.4(SPG7):c.1936+17C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2849468	NM_003119.4(SPG7):c.943C>T (p.His315Tyr)	SPG7 (H315Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2847317	NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)	SPG7 (S802Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2842350	NM_003119.4(SPG7):c.759-15T>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2832073	NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)	SPG7 (G232A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2825877	NM_003119.4(SPG7):c.672G>A (p.Glu224=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2808061	NM_003119.4(SPG7):c.1324+7G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2808060	NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)	SPG7 (G414D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2803662	NM_003119.4(SPG7):c.988-17T>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2801755	NM_003119.4(SPG7):c.273_274del (p.Trp92fs)	SPG7 (W92fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2798146	NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)	SPG7 (L471P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2795682	NM_003119.4(SPG7):c.1324+20G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2792775	NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)	SPG7 (E567D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2786918	NM_003119.4(SPG7):c.732C>G (p.Ser244=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2785830	NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)	SPG7 (K355R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2785475	NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)	LOC130059818, SPG7 (S30R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2777598	NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)	LOC130059818, SPG7 (G18S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2768115	NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)	SPG7 (F99L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2758959	NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)	SPG7 (S116W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2757520	NM_003119.4(SPG7):c.1779+12C>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2752613	NM_003119.4(SPG7):c.1664-17C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2752046	NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)	SPG7 (Y406C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2745490	NM_003119.4(SPG7):c.1455G>A (p.Arg485=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2744167	NM_003119.4(SPG7):c.2104-1G>C	SPG7	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 2742633	NM_003119.4(SPG7):c.762C>T (p.Ala254=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2740444	NM_003119.4(SPG7):c.1663+12G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2739037	NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)	SPG7 (R473Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2738135	NM_003119.4(SPG7):c.1047C>A (p.Gly349=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2737926	NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)	SPG7 (P242T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2737665	NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)	SPG7 (R551C)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2733159	NM_003119.4(SPG7):c.1151-7C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2732427	NM_003119.4(SPG7):c.942G>C (p.Met314Ile)	SPG7 (M314I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2732025	NM_003119.4(SPG7):c.1230C>A (p.Ile410=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2728431	NM_003119.4(SPG7):c.1779+10G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2726557	NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)	SPG7 (R7W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2724061	NM_003119.4(SPG7):c.1552+4C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2718792	NM_003119.4(SPG7):c.264A>C (p.Pro88=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2717526	NM_003119.4(SPG7):c.950C>T (p.Ala317Val)	SPG7 (A317V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2708873	NM_003119.4(SPG7):c.1773G>C (p.Val591=)	SPG7 (D187H)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2704830	NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)	SPG7 (R7G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2700918	NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)	SPG7 (E776*)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2694205	NM_003119.4(SPG7):c.1044C>T (p.Leu348=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2693300	NM_003119.4(SPG7):c.463C>A (p.Leu155Met)	SPG7 (L155M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2682507	NC_000016.9:g.(89595988_89597090)_(89620972_89623294)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 2671796	NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)	SPG7 (G249E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2664724	NM_003119.4(SPG7):c.1151-1G>C	SPG7	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2647109	NM_003119.4(SPG7):c.1296G>A (p.Thr432=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +1 more	GLikely benign
Select item 2637491	NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)	LOC130059818, SPG7 (P42S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2627663	NM_003119.4(SPG7):c.2T>G (p.Met1Arg)	LOC130059818, SPG7 (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2585358	NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)	SPG7 (D700G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2581468	NM_003119.4(SPG7):c.376+2T>A	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 2576623	NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)	SPG7 (R417C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2572387	NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)	SPG7 (Q435*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2571599	NM_003119.4(SPG7):c.808del (p.Tyr270fs)	SPG7 (Y270fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2500211	NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)	SPG7 (M667I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 2500210	NM_003119.4(SPG7):c.932_934del (p.Val311del)	SPG7 (V311del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 2500209	NM_003119.4(SPG7):c.286+853A>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2500208	NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)	SPG7 (L732P)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 7	GPathogenic

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