ClinVar for MedGen (Select 20882) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247647	NC_000001.10:g.(?_228194830)_(228566496_?)del	ARF1, C1orf35 +6 more	Deletion	Spastic paraplegia +2 more	GPathogenic
Select item 3245415	NC_000008.10:g.(?_65509233)_(65510812_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245414	NC_000008.10:g.(?_65509199)_(65509506_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245413	NC_000008.10:g.(?_65527563)_(65527809_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3244330	NC_000012.11:g.(?_123738222)_(123738523_?)del	MTRFR	Deletion	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3244243	NC_000012.11:g.(?_57966343)_(57966529_?)del	KIF5A	Deletion	Spastic paraplegia	GUncertain significance
Select item 3244139	NC_000013.10:g.(?_23667335)_(23939436_?)del	SACS, SGCG	Deletion	Spastic paraplegia	GPathogenic
Select item 3244137	NC_000013.10:g.(?_23942521)_(23942646_?)del	SACS	Deletion	Spastic paraplegia	GPathogenic
Select item 3244136	NC_000013.10:g.(?_23667335)_(23985378_?)del	SACS, SGCG	Deletion	Spastic paraplegia	GPathogenic
Select item 3243956	NC_000014.8:g.(?_68248227)_(68266265_?)del	ZFYVE26	Deletion	Spastic paraplegia	GPathogenic
Select item 3243955	NC_000014.8:g.(?_68228910)_(68235275_?)del	ZFYVE26	Deletion	Spastic paraplegia	GPathogenic
Select item 3243954	NC_000014.8:g.(?_68264369)_(68282680_?)del	ZFYVE26	Deletion	Spastic paraplegia	GPathogenic
Select item 3243953	NC_000014.8:g.(?_68256032)_(68260976_?)del	ZFYVE26	Deletion	Spastic paraplegia	GPathogenic
Select item 3243952	NC_000014.8:g.(?_68260305)_(68260976_?)del	ZFYVE26	Deletion	Spastic paraplegia	GPathogenic
Select item 3243951	NC_000014.8:g.(?_68145038)_(68282680_?)del	RDH11, RDH12 +1 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3243743	NC_000015.9:g.(?_50999997)_(51260594_?)dup	AP4E1, SPPL2A	Duplication	Spastic paraplegia	GUncertain significance
Select item 3243739	NC_000023.10:g.(?_153131284)_(153132386_?)del	L1CAM	Deletion	Spastic paraplegia	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3024062	NM_004187.5(KDM5C):c.2586C>T (p.Asn862=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3023873	NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3023827	NM_015346.4(ZFYVE26):c.327del (p.Asp110fs)	ZFYVE26 (D110fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 3023790	NM_004820.5(CYP7B1):c.979C>T (p.Gln327Ter)	CYP7B1 (Q327*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 3023536	NM_004984.4(KIF5A):c.2755+9G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3023477	NM_014363.6(SACS):c.3582C>T (p.Leu1194=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3023362	NM_001278116.2(L1CAM):c.3457+13C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3023147	NM_001278116.2(L1CAM):c.198-8G>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3023079	NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)	KIF5A (D159Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3023000	NM_015346.4(ZFYVE26):c.7342C>T (p.Leu2448=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3022926	NM_015346.4(ZFYVE26):c.2756-18C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022899	NM_004820.5(CYP7B1):c.259+20A>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022898	NM_020435.4(GJC2):c.357G>T (p.Gly119=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3022726	NM_004187.5(KDM5C):c.237G>A (p.Thr79=)	KDM5C	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 3022495	NM_015346.4(ZFYVE26):c.4569+13G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022416	NM_001278116.2(L1CAM):c.2431+11G>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022354	NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)	SACS (K215R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3022295	NM_014363.6(SACS):c.13722T>C (p.Phe4574=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3022200	NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)	KIF5A (D102N)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3022091	NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)	KIF5A (I42V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3022072	NM_004820.5(CYP7B1):c.260-18C>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022057	NM_001278116.2(L1CAM):c.1704-13G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022052	NM_007347.5(AP4E1):c.30G>A (p.Thr10=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3022038	NM_001278116.2(L1CAM):c.3352G>A (p.Ala1118Thr)	L1CAM (A1113T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 3021505	NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys)	L1CAM (E262K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3021490	NM_004187.5(KDM5C):c.2622+14G>C	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3021484	NM_014363.6(SACS):c.1186A>G (p.Asn396Asp)	SACS (N249D +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3021310	NM_015346.4(ZFYVE26):c.4373-17T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3021084	NM_015346.4(ZFYVE26):c.309G>A (p.Glu103=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021081	NM_014363.6(SACS):c.978A>G (p.Thr326=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021069	NM_015346.4(ZFYVE26):c.426G>A (p.Arg142=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021059	NM_015346.4(ZFYVE26):c.4263G>A (p.Leu1421=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021053	NM_014363.6(SACS):c.1320C>T (p.Phe440=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021042	NM_015346.4(ZFYVE26):c.6011+12T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3021019	NM_001278116.2(L1CAM):c.1323C>A (p.Gly441=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3021002	NM_014363.6(SACS):c.12420A>G (p.Gly4140=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020996	NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)	KIF5A (V606M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3020994	NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)	ERLIN2 (I26T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3020962	NM_014363.6(SACS):c.11017G>A (p.Val3673Ile)	SACS (V3673I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3020958	NM_015346.4(ZFYVE26):c.2316A>G (p.Thr772=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020957	NM_014363.6(SACS):c.9601T>C (p.Leu3201=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020744	NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly)	L1CAM (D959G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 3020664	NM_001278116.2(L1CAM):c.1940-14T>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020647	NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020618	NM_015346.4(ZFYVE26):c.3140-15A>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020516	NM_004820.5(CYP7B1):c.1407T>C (p.Tyr469=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3020450	NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro)	SACS (A4277P +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3020390	NM_004187.5(KDM5C):c.4045G>T (p.Gly1349Cys)	KDM5C (G1348C +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3020352	NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn)	L1CAM (D982N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3020240	NM_014363.6(SACS):c.9903G>C (p.Leu3301=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020101	NM_007347.5(AP4E1):c.1851+7C>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020095	NM_014363.6(SACS):c.8778A>G (p.Leu2926=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020011	NM_015346.4(ZFYVE26):c.2553+17C>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019998	NM_004984.4(KIF5A):c.217+6A>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3019997	NM_001278116.2(L1CAM):c.2547+14G>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019891	NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3019866	NM_015346.4(ZFYVE26):c.6589-15C>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019820	NM_004820.5(CYP7B1):c.223A>T (p.Lys75Ter)	CYP7B1 (K75*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 3019768	NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe)	L1CAM (L1112F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3019751	NM_015346.4(ZFYVE26):c.6787-20C>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019720	NM_004820.5(CYP7B1):c.850+16T>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019511	NM_001278116.2(L1CAM):c.3323-15G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019395	NM_004984.4(KIF5A):c.577G>A (p.Val193Met)	KIF5A (V104M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3019376	NM_001278116.2(L1CAM):c.2211G>T (p.Pro737=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3019232	NM_004820.5(CYP7B1):c.1233+13C>T	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019146	NM_001278116.2(L1CAM):c.405C>A (p.Ala135=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3019104	NM_001278116.2(L1CAM):c.3543-13T>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018943	NM_001278116.2(L1CAM):c.858C>T (p.Asp286=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3018873	NM_015346.4(ZFYVE26):c.2685T>C (p.Gly895=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3018868	NM_015346.4(ZFYVE26):c.5221+11G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018800	NM_001278116.2(L1CAM):c.3457+5C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3018782	NM_015346.4(ZFYVE26):c.2248+10G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018774	NM_004187.5(KDM5C):c.3253G>T (p.Ala1085Ser)	KDM5C (A1018S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3018742	NM_004820.5(CYP7B1):c.1197C>A (p.Val399=)	CYP7B1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3018637	NM_014363.6(SACS):c.13341A>G (p.Ala4447=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3018610	NM_014363.6(SACS):c.15G>A (p.Glu5=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3018503	NM_004984.4(KIF5A):c.396+5C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3018202	NM_004820.5(CYP7B1):c.1058-9T>C	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018186	NM_004984.4(KIF5A):c.2089-11del	KIF5A	Deletion (intron variant)	Spastic paraplegia	GBenign

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