SEMA3F[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
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 3054789	NM_004186.5(SEMA3F):c.9C>T (p.Val3=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2367544	NM_004186.5(SEMA3F):c.10G>A (p.Ala4Thr)	SEMA3F (A4T)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3051108	NM_004186.5(SEMA3F):c.12C>T (p.Ala4=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 3060222	NM_004186.5(SEMA3F):c.37C>T (p.Leu13=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GBenign
Select item 3060562	NM_004186.5(SEMA3F):c.42C>T (p.Thr14=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GBenign
Select item 3057219	NM_004186.5(SEMA3F):c.43G>C (p.Gly15Arg)	SEMA3F (G15R)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related condition	GBenign
Select item 3054991	NM_004186.5(SEMA3F):c.55T>C (p.Ser19Pro)	SEMA3F (S19P)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2302177	NM_004186.5(SEMA3F):c.56C>T (p.Ser19Phe)	SEMA3F (S19F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631886	NM_004186.5(SEMA3F):c.80C>T (p.Pro27Leu)	SEMA3F (P27L)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related condition	GUncertain significance
Select item 982047	NM_004186.5(SEMA3F):c.86C>T (p.Thr29Met)	SEMA3F (T29M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3046469	NM_004186.5(SEMA3F):c.87G>A (p.Thr29=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2493428	NM_004186.5(SEMA3F):c.92G>A (p.Arg31Gln)	SEMA3F (R31Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234113	NM_004186.5(SEMA3F):c.94G>A (p.Val32Ile)	SEMA3F (V32I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047908	NM_004186.5(SEMA3F):c.97C>T (p.Arg33Trp)	SEMA3F (R33W)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related condition	GUncertain significance
Select item 3038914	NM_004186.5(SEMA3F):c.113-6C>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GBenign
Select item 3055104	NM_004186.5(SEMA3F):c.132C>T (p.Thr44=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2459054	NM_004186.5(SEMA3F):c.141C>A (p.Phe47Leu)	SEMA3F (F47L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559459	NM_004186.5(SEMA3F):c.202C>T (p.Arg68Cys)	SEMA3F (R68C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510380	NM_004186.5(SEMA3F):c.203G>A (p.Arg68His)	SEMA3F (R68H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252184	NM_004186.5(SEMA3F):c.211G>A (p.Val71Met)	SEMA3F (V3M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054869	NM_004186.5(SEMA3F):c.228C>T (p.Tyr76=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2636641	NM_004186.5(SEMA3F):c.261C>T (p.Arg87=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GUncertain significance
Select item 3032958	NM_004186.5(SEMA3F):c.267C>T (p.Pro89=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3052238	NM_004186.5(SEMA3F):c.274-10C>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 2628965	NM_004186.5(SEMA3F):c.313G>A (p.Val105Met)	SEMA3F (V105M +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3039662	NM_004186.5(SEMA3F):c.336C>T (p.Asn112=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3055194	NM_004186.5(SEMA3F):c.336+7T>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 3031796	NM_004186.5(SEMA3F):c.338G>T (p.Gly113Val)	SEMA3F (G113V +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GLikely benign
Select item 2636766	NM_004186.5(SEMA3F):c.341A>G (p.Glu114Gly)	SEMA3F (E114G +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3054704	NM_004186.5(SEMA3F):c.354C>T (p.Phe118=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2454858	NM_004186.5(SEMA3F):c.355G>A (p.Val119Ile)	SEMA3F (V119I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243902	NM_004186.5(SEMA3F):c.368A>G (p.Gln123Arg)	SEMA3F (Q123R +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition +1 more	GUncertain significance
Select item 3031916	NM_004186.5(SEMA3F):c.399C>T (p.Cys133=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3047027	NM_004186.5(SEMA3F):c.423G>C (p.Met141Ile)	SEMA3F (M141I +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3045255	NM_004186.5(SEMA3F):c.441C>T (p.Arg147=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2322087	NM_004186.5(SEMA3F):c.452C>A (p.Ala151Asp)	SEMA3F (A151D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032580	NM_004186.5(SEMA3F):c.456+10A>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 2537472	NM_004186.5(SEMA3F):c.457G>A (p.Ala153Thr)	SEMA3F (A153T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3054857	NM_004186.5(SEMA3F):c.483G>A (p.Ala161=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2513675	NM_004186.5(SEMA3F):c.493C>T (p.Arg165Cys)	SEMA3F (R165C)	Single nucleotide variant (intron variant +1 more)	SEMA3F-related condition +1 more	GUncertain significance
Select item 3048140	NM_004186.5(SEMA3F):c.495C>T (p.Arg165=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 3036735	NM_004186.5(SEMA3F):c.509C>T (p.Thr170Met)	SEMA3F (T170M)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related condition	GUncertain significance
Select item 3036266	NM_004186.5(SEMA3F):c.510G>A (p.Thr170=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related condition	GLikely benign
Select item 2276451	NM_004186.5(SEMA3F):c.514G>A (p.Gly172Ser)	SEMA3F (G172S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035968	NM_004186.5(SEMA3F):c.524G>A (p.Arg175His)	SEMA3F (R175H)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related condition	GUncertain significance
Select item 2653851	NM_004186.5(SEMA3F):c.556A>G (p.Ile186Val)	SEMA3F (I155V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3038877	NM_004186.5(SEMA3F):c.576G>C (p.Glu192Asp)	SEMA3F (E161D +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GLikely benign
Select item 2636107	NM_004186.5(SEMA3F):c.580C>T (p.Leu194Phe)	SEMA3F (L163F +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 713297	NM_004186.5(SEMA3F):c.582C>T (p.Leu194=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition +1 more	GBenign/Likely benign
Select item 3050349	NM_004186.5(SEMA3F):c.609C>T (p.Tyr203=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3032592	NM_004186.5(SEMA3F):c.643A>G (p.Asn215Asp)	SEMA3F (N116D +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 2261475	NM_004186.5(SEMA3F):c.652C>G (p.Leu218Val)	SEMA3F (L187V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048112	NM_004186.5(SEMA3F):c.717G>A (p.Lys239=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2636529	NM_004186.5(SEMA3F):c.728T>C (p.Met243Thr)	SEMA3F (M144T +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 2629231	NM_004186.5(SEMA3F):c.742T>C (p.Tyr248His)	SEMA3F (Y149H +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 2629113	NM_004186.5(SEMA3F):c.751C>T (p.Arg251Trp)	SEMA3F (R152W +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 2653852	NM_004186.5(SEMA3F):c.763+7G>A	SEMA3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653853	NM_004186.5(SEMA3F):c.813T>C (p.Asn271=)	SEMA3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636820	NM_004186.5(SEMA3F):c.845G>A (p.Arg282Gln)	SEMA3F (R183Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3028961	NM_004186.5(SEMA3F):c.879C>T (p.Tyr293=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3046786	NM_004186.5(SEMA3F):c.904-7C>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 3036766	NM_004186.5(SEMA3F):c.904-4C>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 2302178	NM_004186.5(SEMA3F):c.910G>A (p.Asp304Asn)	SEMA3F (D273N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628691	NM_004186.5(SEMA3F):c.962G>A (p.Arg321Gln)	SEMA3F (R222Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3043435	NM_004186.5(SEMA3F):c.967G>A (p.Val323Ile)	SEMA3F (V224I +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GLikely benign
Select item 3032750	NM_004186.5(SEMA3F):c.985G>A (p.Glu329Lys)	SEMA3F (E230K +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3030564	NM_004186.5(SEMA3F):c.1023C>T (p.Asp341=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3051551	NM_004186.5(SEMA3F):c.1092C>T (p.Ser364=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2636886	NM_004186.5(SEMA3F):c.1100G>A (p.Arg367Gln)	SEMA3F (R268Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 738089	NM_004186.5(SEMA3F):c.1152C>T (p.Asn384=)	SEMA3F	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2295596	NM_004186.5(SEMA3F):c.1181A>G (p.Asn394Ser)	SEMA3F (N363S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029949	NM_004186.5(SEMA3F):c.1197C>A (p.Pro399=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3039279	NM_004186.5(SEMA3F):c.1227G>A (p.Pro409=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3054933	NM_004186.5(SEMA3F):c.1234-9T>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 3031743	NM_004186.5(SEMA3F):c.1332C>T (p.Ala444=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2258777	NM_004186.5(SEMA3F):c.1349G>A (p.Arg450Gln)	SEMA3F (R351Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition +1 more	GUncertain significance
Select item 2390992	NM_004186.5(SEMA3F):c.1352G>A (p.Arg451Gln)	SEMA3F (R420Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition +1 more	GUncertain significance
Select item 982046	NM_004186.5(SEMA3F):c.1354C>A (p.Pro452Thr)	SEMA3F (P353T +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2520010	NM_004186.5(SEMA3F):c.1396A>G (p.Ile466Val)	SEMA3F (I435V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552393	NM_004186.5(SEMA3F):c.1408C>A (p.Gln470Lys)	SEMA3F (Q470K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519143	NM_004186.5(SEMA3F):c.1430G>A (p.Arg477His)	SEMA3F (R446H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032787	NM_004186.5(SEMA3F):c.1460G>A (p.Arg487His)	SEMA3F (R388H +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3036752	NM_004186.5(SEMA3F):c.1461C>T (p.Arg487=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3059010	NM_004186.5(SEMA3F):c.1507T>A (p.Leu503Met)	SEMA3F (L404M +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GBenign
Select item 3058207	NM_004186.5(SEMA3F):c.1527G>A (p.Glu509=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3036619	NM_004186.5(SEMA3F):c.1560C>T (p.Val520=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3045695	NM_004186.5(SEMA3F):c.1588-3C>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related condition	GLikely benign
Select item 2214940	NM_004186.5(SEMA3F):c.1600G>A (p.Val534Met)	SEMA3F (V534M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031144	NM_004186.5(SEMA3F):c.1605G>A (p.Ala535=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3033009	NM_004186.5(SEMA3F):c.1632C>T (p.Ser544=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3057239	NM_004186.5(SEMA3F):c.1635G>A (p.Leu545=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3030307	NM_004186.5(SEMA3F):c.1650G>A (p.Ala550=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 2407557	NM_004186.5(SEMA3F):c.1724G>A (p.Arg575His)	SEMA3F (R476H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653854	NM_004186.5(SEMA3F):c.1746-3C>T	SEMA3F	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3029239	NM_004186.5(SEMA3F):c.1753C>T (p.Arg585Cys)	SEMA3F (R486C +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3031965	NM_004186.5(SEMA3F):c.1765G>A (p.Val589Ile)	SEMA3F (V490I +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance
Select item 3054975	NM_004186.5(SEMA3F):c.1773C>T (p.His591=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related condition	GLikely benign
Select item 3035915	NM_004186.5(SEMA3F):c.1796G>A (p.Arg599His)	SEMA3F (R500H +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related condition	GUncertain significance

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