SEMA3G[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 3357566	NM_020163.3(SEMA3G):c.*4G>C	SEMA3G	Single nucleotide variant (3 prime UTR variant)	SEMA3G-related disorder	GLikely benign
Select item 3355952	NM_020163.3(SEMA3G):c.*2A>G	SEMA3G	Single nucleotide variant (3 prime UTR variant)	SEMA3G-related disorder	GLikely benign
Select item 3048671	NM_020163.3(SEMA3G):c.2346G>A (p.Thr782=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3355325	NM_020163.3(SEMA3G):c.2340G>C (p.Glu780Asp)	SEMA3G (E780D)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3057138	NM_020163.3(SEMA3G):c.2340G>A (p.Glu780=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GBenign
Select item 2636346	NM_020163.3(SEMA3G):c.2329C>T (p.Arg777Trp)	SEMA3G (R777W)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3049269	NM_020163.3(SEMA3G):c.2326C>T (p.Pro776Ser)	SEMA3G (P776S)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3352265	NM_020163.3(SEMA3G):c.2325G>A (p.Thr775=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2281525	NM_020163.3(SEMA3G):c.2321G>A (p.Arg774Gln)	SEMA3G (R774Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159752	NM_020163.3(SEMA3G):c.2306A>G (p.His769Arg)	SEMA3G (H769R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351724	NM_020163.3(SEMA3G):c.2305C>G (p.His769Asp)	SEMA3G (H769D)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 2629456	NM_020163.3(SEMA3G):c.2300G>A (p.Arg767Gln)	SEMA3G (R767Q)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3317303	NM_020163.3(SEMA3G):c.2299C>T (p.Arg767Trp)	SEMA3G (R767W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348571	NM_020163.3(SEMA3G):c.2289G>A (p.Lys763=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3354384	NM_020163.3(SEMA3G):c.2286G>A (p.Lys762=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2526387	NM_020163.3(SEMA3G):c.2262C>G (p.Ser754Arg)	SEMA3G (S754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357722	NM_020163.3(SEMA3G):c.2245_2259del (p.Gln749_Lys753del)	SEMA3G	Deletion (inframe_deletion)	SEMA3G-related disorder	GUncertain significance
Select item 3351732	NM_020163.3(SEMA3G):c.2253G>A (p.Arg751=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2636071	NM_020163.3(SEMA3G):c.2237G>A (p.Arg746Gln)	SEMA3G (R746Q)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3358556	NM_020163.3(SEMA3G):c.2236C>T (p.Arg746Trp)	SEMA3G (R746W)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3051979	NM_020163.3(SEMA3G):c.2231G>A (p.Arg744Gln)	SEMA3G (R744Q)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3159750	NM_020163.3(SEMA3G):c.2225G>A (p.Arg742Gln)	SEMA3G (R742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553237	NM_020163.3(SEMA3G):c.2224C>T (p.Arg742Trp)	SEMA3G (R742W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037153	NM_020163.3(SEMA3G):c.2205G>A (p.Thr735=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3159749	NM_020163.3(SEMA3G):c.2204C>T (p.Thr735Met)	SEMA3G (T735M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3351401	NM_020163.3(SEMA3G):c.2197G>A (p.Gly733Ser)	SEMA3G (G733S)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3349149	NM_020163.3(SEMA3G):c.2191T>C (p.Cys731Arg)	SEMA3G (C731R)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3352168	NM_020163.3(SEMA3G):c.2185G>A (p.Val729Met)	SEMA3G (V729M)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3351885	NM_020163.3(SEMA3G):c.2183G>A (p.Arg728His)	SEMA3G (R728H)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3036438	NM_020163.3(SEMA3G):c.2182C>T (p.Arg728Cys)	SEMA3G (R728C)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 2237299	NM_020163.3(SEMA3G):c.2179G>C (p.Glu727Gln)	SEMA3G (E727Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293714	NM_020163.3(SEMA3G):c.2162G>A (p.Arg721Gln)	SEMA3G (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635892	NM_020163.3(SEMA3G):c.2161C>T (p.Arg721Trp)	SEMA3G (R721W)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3061673	NM_020163.3(SEMA3G):c.2148C>T (p.Phe716=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3354905	NM_020163.3(SEMA3G):c.2134C>A (p.Gln712Lys)	SEMA3G (Q712K)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3355438	NM_020163.3(SEMA3G):c.2133G>A (p.Leu711=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2218158	NM_020163.3(SEMA3G):c.2129T>A (p.Ile710Asn)	SEMA3G (I710N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345142	NM_020163.3(SEMA3G):c.2126A>G (p.Asp709Gly)	SEMA3G (D709G)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3346434	NM_020163.3(SEMA3G):c.2123del (p.Lys708fs)	SEMA3G (K708fs)	Deletion (frameshift variant)	SEMA3G-related disorder	GUncertain significance
Select item 3357306	NM_020163.3(SEMA3G):c.2114C>T (p.Ala705Val)	SEMA3G (A705V)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3347990	NM_020163.3(SEMA3G):c.2096C>T (p.Ala699Val)	SEMA3G (A699V)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3159748	NM_020163.3(SEMA3G):c.2086G>A (p.Gly696Arg)	SEMA3G (G696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042076	NM_020163.3(SEMA3G):c.2079A>C (p.Pro693=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3047387	NM_020163.3(SEMA3G):c.2074C>T (p.Pro692Ser)	SEMA3G (P692S)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3159747	NM_020163.3(SEMA3G):c.2059C>G (p.Pro687Ala)	SEMA3G (P687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629442	NM_020163.3(SEMA3G):c.2055G>A (p.Pro685=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2539134	NM_020163.3(SEMA3G):c.2054C>T (p.Pro685Leu)	SEMA3G (P685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358179	NM_020163.3(SEMA3G):c.2046G>C (p.Leu682=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3159746	NM_020163.3(SEMA3G):c.2039A>C (p.Asp680Ala)	SEMA3G (D680A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346070	NM_020163.3(SEMA3G):c.2038G>A (p.Asp680Asn)	SEMA3G (D680N)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3037359	NM_020163.3(SEMA3G):c.2027C>A (p.Ala676Asp)	SEMA3G (A676D)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GLikely benign
Select item 3053896	NM_020163.3(SEMA3G):c.2025G>A (p.Val675=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2628941	NM_020163.3(SEMA3G):c.2021T>C (p.Ile674Thr)	SEMA3G (I674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031803	NM_020163.3(SEMA3G):c.2001C>T (p.Val667=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3051367	NM_020163.3(SEMA3G):c.1965C>A (p.Cys655Ter)	SEMA3G (C655*)	Single nucleotide variant (nonsense)	SEMA3G-related disorder	GLikely benign
Select item 3032944	NM_020163.3(SEMA3G):c.1950G>A (p.Ala650=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2561046	NM_020163.3(SEMA3G):c.1945G>A (p.Asp649Asn)	SEMA3G (D649N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3054582	NM_020163.3(SEMA3G):c.1944C>T (p.Phe648=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3037108	NM_020163.3(SEMA3G):c.1939C>T (p.Arg647Cys)	SEMA3G (R647C)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3356672	NM_020163.3(SEMA3G):c.1935T>C (p.Leu645=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3353952	NM_020163.3(SEMA3G):c.1926C>T (p.Phe642=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3356422	NM_020163.3(SEMA3G):c.1923G>C (p.Leu641=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3356332	NM_020163.3(SEMA3G):c.1923G>T (p.Leu641=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3348405	NM_020163.3(SEMA3G):c.1920G>A (p.Leu640=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3353305	NM_020163.3(SEMA3G):c.1917G>A (p.Gly639=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3317301	NM_020163.3(SEMA3G):c.1913G>A (p.Arg638Gln)	SEMA3G (R638Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212850	NM_020163.3(SEMA3G):c.1913G>C (p.Arg638Pro)	SEMA3G (R638P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357733	NM_020163.3(SEMA3G):c.1912C>T (p.Arg638Trp)	SEMA3G (R638W)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3355775	NM_020163.3(SEMA3G):c.1908G>C (p.Thr636=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3049129	NM_020163.3(SEMA3G):c.1908G>A (p.Thr636=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2631899	NM_020163.3(SEMA3G):c.1907C>T (p.Thr636Met)	SEMA3G (T636M)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3032063	NM_020163.3(SEMA3G):c.1904A>C (p.His635Pro)	SEMA3G (H635P)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3352328	NM_020163.3(SEMA3G):c.1895G>A (p.Arg632Gln)	SEMA3G (R632Q)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3030140	NM_020163.3(SEMA3G):c.1890C>T (p.Asp630=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3044220	NM_020163.3(SEMA3G):c.1887G>A (p.Thr629=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3353422	NM_020163.3(SEMA3G):c.1879-4G>C	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3029441	NM_020163.3(SEMA3G):c.1879-7A>G	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3351158	NM_020163.3(SEMA3G):c.1879-9G>A	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3357703	NM_020163.3(SEMA3G):c.1879-10C>T	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3355296	NM_020163.3(SEMA3G):c.1878+8A>T	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3358131	NM_020163.3(SEMA3G):c.1878+7G>A	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3159745	NM_020163.3(SEMA3G):c.1867G>A (p.Gly623Arg)	SEMA3G (G623R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358474	NM_020163.3(SEMA3G):c.1865A>T (p.Glu622Val)	SEMA3G (E622V)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 2321952	NM_020163.3(SEMA3G):c.1838G>A (p.Arg613His)	SEMA3G (R613H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628622	NM_020163.3(SEMA3G):c.1793G>T (p.Ser598Ile)	SEMA3G (S598I)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3039862	NM_020163.3(SEMA3G):c.1782G>A (p.Thr594=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2276069	NM_020163.3(SEMA3G):c.1777G>A (p.Gly593Ser)	SEMA3G (G593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031166	NM_020163.3(SEMA3G):c.1776C>T (p.Tyr592=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3345376	NM_020163.3(SEMA3G):c.1739-3C>T	SEMA3G	Single nucleotide variant (intron variant)	SEMA3G-related disorder	GLikely benign
Select item 3040806	NM_020163.3(SEMA3G):c.1738+6T>C	SEMA3G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2538785	NM_020163.3(SEMA3G):c.1715A>G (p.Gln572Arg)	SEMA3G (Q572R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159744	NM_020163.3(SEMA3G):c.1704C>A (p.Asn568Lys)	SEMA3G (N568K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357005	NM_020163.3(SEMA3G):c.1699G>A (p.Gly567Ser)	SEMA3G (G567S)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3358668	NM_020163.3(SEMA3G):c.1698C>T (p.His566=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 3030637	NM_020163.3(SEMA3G):c.1692C>T (p.Ile564=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related disorder	GLikely benign
Select item 2367331	NM_020163.3(SEMA3G):c.1687G>C (p.Asp563His)	SEMA3G (D563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634782	NM_020163.3(SEMA3G):c.1681C>T (p.Arg561Trp)	SEMA3G (R561W)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance
Select item 3357985	NM_020163.3(SEMA3G):c.1673G>A (p.Arg558Gln)	SEMA3G (R558Q)	Single nucleotide variant (missense variant)	SEMA3G-related disorder	GUncertain significance

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