SEMA3C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ELMO1, ELMO1-AS1 +4736 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 3031781	NM_006379.5(SEMA3C):c.*9T>C	SEMA3C	Single nucleotide variant (3 prime UTR variant)	SEMA3C-related disorder	GLikely benign
Select item 2207722	NM_006379.5(SEMA3C):c.2236A>G (p.Asn746Asp)	SEMA3C (N688D +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2634557	NM_006379.5(SEMA3C):c.2216G>A (p.Arg739Gln)	SEMA3C (R681Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3054046	NM_006379.5(SEMA3C):c.2210A>G (p.Asn737Ser)	SEMA3C (N679S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3159709	NM_006379.5(SEMA3C):c.2186A>G (p.Tyr729Cys)	SEMA3C (Y671C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629299	NM_006379.5(SEMA3C):c.2138G>A (p.Arg713Gln)	SEMA3C (R655Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3060435	NM_006379.5(SEMA3C):c.2124T>C (p.Tyr708=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 783002	NM_006379.5(SEMA3C):c.2121A>G (p.Gln707=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2490982	NM_006379.5(SEMA3C):c.2086G>A (p.Ala696Thr)	SEMA3C (A696T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216058	NM_006379.5(SEMA3C):c.2065C>A (p.His689Asn)	SEMA3C (H689N +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder +1 more	GUncertain significance
Select item 3058982	NM_006379.5(SEMA3C):c.2028A>G (p.Pro676=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 718913	NM_006379.5(SEMA3C):c.2015A>G (p.Asp672Gly)	SEMA3C (D614G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3036368	NM_006379.5(SEMA3C):c.2013G>A (p.Thr671=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 792861	NM_006379.5(SEMA3C):c.1938A>G (p.Thr646=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 768166	NM_006379.5(SEMA3C):c.1934C>G (p.Ala645Gly)	SEMA3C (A587G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2636065	NM_006379.5(SEMA3C):c.1930A>G (p.Ile644Val)	SEMA3C (I586V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2629081	NM_006379.5(SEMA3C):c.1895C>T (p.Ser632Phe)	SEMA3C (S574F +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3056756	NM_006379.5(SEMA3C):c.1885C>G (p.Leu629Val)	SEMA3C (L571V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3051955	NM_006379.5(SEMA3C):c.1839A>G (p.Lys613=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 2393784	NM_006379.5(SEMA3C):c.1831A>G (p.Arg611Gly)	SEMA3C (R553G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046178	NM_006379.5(SEMA3C):c.1806G>A (p.Lys602=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 708481	NM_006379.5(SEMA3C):c.1801A>G (p.Ile601Val)	SEMA3C (I543V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2636100	NM_006379.5(SEMA3C):c.1795G>T (p.Ala599Ser)	SEMA3C (A541S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 733120	NM_006379.5(SEMA3C):c.1791G>A (p.Pro597=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2378173	NM_006379.5(SEMA3C):c.1762A>G (p.Thr588Ala)	SEMA3C (T530A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3036156	NM_006379.5(SEMA3C):c.1749A>G (p.Val583=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3060860	NM_006379.5(SEMA3C):c.1737C>G (p.Val579=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 3032693	NM_006379.5(SEMA3C):c.1734T>A (p.Ile578=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 711872	NM_006379.5(SEMA3C):c.1713A>T (p.Ala571=)	SEMA3C	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3233345	NM_006379.5(SEMA3C):c.1711+3A>T	SEMA3C	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3054600	NM_006379.5(SEMA3C):c.1651C>A (p.Arg551=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3030767	NM_006379.5(SEMA3C):c.1599C>T (p.Ala533=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3036429	NM_006379.5(SEMA3C):c.1596C>T (p.Cys532=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3030738	NM_006379.5(SEMA3C):c.1581G>A (p.Ala527=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 2341144	NM_006379.5(SEMA3C):c.1556C>T (p.Thr519Ile)	SEMA3C (T519I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636168	NM_006379.5(SEMA3C):c.1538G>A (p.Arg513His)	SEMA3C (R455H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3032509	NM_006379.5(SEMA3C):c.1533G>T (p.Leu511=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3059253	NM_006379.5(SEMA3C):c.1524G>A (p.Gln508=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 2631869	NM_006379.5(SEMA3C):c.1514G>T (p.Gly505Val)	SEMA3C (G447V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2632081	NM_006379.5(SEMA3C):c.1460CAA[1] (p.Thr488del)	SEMA3C (T430del +2 more)	Microsatellite (inframe_deletion)	SEMA3C-related disorder	GUncertain significance
Select item 2632122	NM_006379.5(SEMA3C):c.1451C>G (p.Ala484Gly)	SEMA3C (A426G +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2629340	NM_006379.5(SEMA3C):c.1448A>G (p.His483Arg)	SEMA3C (H425R +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2629322	NM_006379.5(SEMA3C):c.1418T>C (p.Ile473Thr)	SEMA3C (I415T +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2513101	NM_006379.5(SEMA3C):c.1405A>G (p.Ser469Gly)	SEMA3C (S487G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159708	NM_006379.5(SEMA3C):c.1387C>G (p.Pro463Ala)	SEMA3C (P481A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269616	NM_006379.5(SEMA3C):c.1372A>G (p.Lys458Glu)	SEMA3C (K476E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030177	NM_006379.5(SEMA3C):c.1361G>A (p.Gly454Asp)	SEMA3C (G396D +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2211936	NM_006379.5(SEMA3C):c.1355A>G (p.Asp452Gly)	SEMA3C (D394G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 709233	NM_006379.5(SEMA3C):c.1355-8dup	SEMA3C	Duplication (intron variant)	not provided	GBenign
Select item 730569	NM_006379.5(SEMA3C):c.1354+9T>A	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder +1 more	GBenign/Likely benign
Select item 2689939	NM_006379.5(SEMA3C):c.1348G>A (p.Gly450Arg)	SEMA3C (G392R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750434	NM_006379.5(SEMA3C):c.1347C>T (p.Leu449=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402013	NM_006379.5(SEMA3C):c.1297G>A (p.Ala433Thr)	SEMA3C (A433T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047206	NM_006379.5(SEMA3C):c.1290A>G (p.Thr430=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3060714	NM_006379.5(SEMA3C):c.1287T>C (p.Tyr429=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 2374565	NM_006379.5(SEMA3C):c.1264C>T (p.Arg422Cys)	SEMA3C (R422C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314022	NM_006379.5(SEMA3C):c.1255T>A (p.Leu419Met)	SEMA3C (L361M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031653	NM_006379.5(SEMA3C):c.1246A>G (p.Lys416Glu)	SEMA3C (K358E +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 2369373	NM_006379.5(SEMA3C):c.1240A>G (p.Ile414Val)	SEMA3C (I356V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 728389	NM_006379.5(SEMA3C):c.1209C>T (p.Asn403=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3159707	NM_006379.5(SEMA3C):c.1132T>C (p.Cys378Arg)	SEMA3C (C320R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628794	NM_006379.5(SEMA3C):c.1131+2dup	SEMA3C	Duplication (splice donor variant)	SEMA3C-related disorder	GUncertain significance
Select item 718538	NM_006379.5(SEMA3C):c.1113A>G (p.Pro371=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324960	NM_006379.5(SEMA3C):c.1096T>C (p.Tyr366His)	SEMA3C (Y366H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708482	NM_006379.5(SEMA3C):c.1074G>T (p.Gly358=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3059373	NM_006379.5(SEMA3C):c.1044G>T (p.Val348=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GBenign
Select item 2629085	NM_006379.5(SEMA3C):c.1034T>C (p.Ile345Thr)	SEMA3C (I287T +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 1272490	NM_006379.5(SEMA3C):c.1009G>A (p.Val337Met)	SEMA3C (V279M +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder +1 more	GBenign
Select item 2636003	NM_006379.5(SEMA3C):c.985A>G (p.Ser329Gly)	SEMA3C (S271G +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 777405	NM_006379.5(SEMA3C):c.962T>C (p.Val321Ala)	SEMA3C (V263A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3054985	NM_006379.5(SEMA3C):c.948G>A (p.Pro316=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 2636572	NM_006379.5(SEMA3C):c.943A>G (p.Asn315Asp)	SEMA3C (N257D +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3054621	NM_006379.5(SEMA3C):c.939T>G (p.Thr313=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3033139	NM_006379.5(SEMA3C):c.916+8_916+9insCT	SEMA3C	Insertion (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 623440	NM_006379.5(SEMA3C):c.908A>G (p.Asp303Gly)	SEMA3C (D303G +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 744052	NM_006379.5(SEMA3C):c.906T>C (p.Phe302=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder +1 more	GLikely benign
Select item 3032068	NM_006379.5(SEMA3C):c.888C>T (p.Asp296=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 737488	NM_006379.5(SEMA3C):c.873G>A (p.Ser291=)	SEMA3C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354761	NM_006379.5(SEMA3C):c.833A>G (p.Asn278Ser)	SEMA3C (N278S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 760759	NM_006379.5(SEMA3C):c.801+7A>T	SEMA3C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3030632	NM_006379.5(SEMA3C):c.765G>A (p.Thr255=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 2636674	NM_006379.5(SEMA3C):c.764C>T (p.Thr255Met)	SEMA3C (T197M +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3034429	NM_006379.5(SEMA3C):c.761G>A (p.Ser254Asn)	SEMA3C (S196N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2339840	NM_006379.5(SEMA3C):c.759G>T (p.Arg253Ser)	SEMA3C (R195S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279884	NM_006379.5(SEMA3C):c.752A>G (p.Asn251Ser)	SEMA3C (N193S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730570	NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser)	SEMA3C (P172S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2454306	NM_006379.5(SEMA3C):c.670G>A (p.Val224Ile)	SEMA3C (V166I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2323174	NM_006379.5(SEMA3C):c.620C>T (p.Ala207Val)	SEMA3C (A149V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036399	NM_006379.5(SEMA3C):c.555T>C (p.Ser185=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3061675	NM_006379.5(SEMA3C):c.539-8T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3050961	NM_006379.5(SEMA3C):c.522G>A (p.Thr174=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 2314023	NM_006379.5(SEMA3C):c.514G>A (p.Val172Met)	SEMA3C (V190M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634179	NM_006379.5(SEMA3C):c.506A>G (p.Asn169Ser)	SEMA3C (N111S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3034933	NM_006379.5(SEMA3C):c.493C>T (p.Arg165Cys)	SEMA3C (R107C +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GLikely benign
Select item 3054091	NM_006379.5(SEMA3C):c.441A>G (p.Arg147=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign

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