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 3353851	NM_004186.5(SEMA3F):c.-10C>T	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3317296	NM_004186.5(SEMA3F):c.4C>T (p.Leu2Phe)	SEMA3F (L2F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054789	NM_004186.5(SEMA3F):c.9C>T (p.Val3=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 2367544	NM_004186.5(SEMA3F):c.10G>A (p.Ala4Thr)	SEMA3F (A4T)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 disorder	GLikely benign
Select item 3355965	NM_004186.5(SEMA3F):c.22C>T (p.Leu8Phe)	SEMA3F (L8F)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3060222	NM_004186.5(SEMA3F):c.37C>T (p.Leu13=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GBenign
Select item 3060562	NM_004186.5(SEMA3F):c.42C>T (p.Thr14=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GBenign
Select item 3057219	NM_004186.5(SEMA3F):c.43G>C (p.Gly15Arg)	SEMA3F (G15R)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GBenign
Select item 3054991	NM_004186.5(SEMA3F):c.55T>C (p.Ser19Pro)	SEMA3F (S19P)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 2302177	NM_004186.5(SEMA3F):c.56C>T (p.Ser19Phe)	SEMA3F (S19F)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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 disorder	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)	not specified	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)	not specified	GUncertain significance
Select item 3344328	NM_004186.5(SEMA3F):c.95T>A (p.Val32Asp)	SEMA3F (V32D)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	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 disorder	GUncertain significance
Select item 3356393	NM_004186.5(SEMA3F):c.112+6_112+8del	SEMA3F	Microsatellite (intron variant)	SEMA3F-related disorder	GLikely benign
Select item 3354300	NM_004186.5(SEMA3F):c.113-10C>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	GLikely benign
Select item 3038914	NM_004186.5(SEMA3F):c.113-6C>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	GBenign
Select item 3159727	NM_004186.5(SEMA3F):c.125C>T (p.Thr42Ile)	SEMA3F (T42I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3055104	NM_004186.5(SEMA3F):c.132C>T (p.Thr44=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3350572	NM_004186.5(SEMA3F):c.138C>T (p.His46=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3356757	NM_004186.5(SEMA3F):c.139T>C (p.Phe47Leu)	SEMA3F (F47L)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3159728	NM_004186.5(SEMA3F):c.140T>A (p.Phe47Tyr)	SEMA3F (F47Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459054	NM_004186.5(SEMA3F):c.141C>A (p.Phe47Leu)	SEMA3F (F47L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3357454	NM_004186.5(SEMA3F):c.156C>T (p.Leu52=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3353301	NM_004186.5(SEMA3F):c.165C>T (p.Thr55=)	SEMA3F	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3344880	NM_004186.5(SEMA3F):c.202C>G (p.Arg68Gly)	SEMA3F (R68G)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3F-related disorder	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)	not specified	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)	not specified	GUncertain significance
Select item 3348010	NM_004186.5(SEMA3F):c.209A>T (p.Tyr70Phe)	SEMA3F (Y2F +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3350586	NM_004186.5(SEMA3F):c.210C>T (p.Tyr70=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 2252184	NM_004186.5(SEMA3F):c.211G>A (p.Val71Met)	SEMA3F (V3M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054869	NM_004186.5(SEMA3F):c.228C>T (p.Tyr76=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3317294	NM_004186.5(SEMA3F):c.229G>A (p.Val77Met)	SEMA3F (V77M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159734	NM_004186.5(SEMA3F):c.250G>A (p.Asp84Asn)	SEMA3F (D16N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636641	NM_004186.5(SEMA3F):c.261C>T (p.Arg87=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GUncertain significance
Select item 3032958	NM_004186.5(SEMA3F):c.267C>T (p.Pro89=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3354674	NM_004186.5(SEMA3F):c.268C>T (p.Leu90Phe)	SEMA3F (L22F +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3052238	NM_004186.5(SEMA3F):c.274-10C>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	GLikely benign
Select item 3351679	NM_004186.5(SEMA3F):c.299G>A (p.Arg100His)	SEMA3F (R100H +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3351031	NM_004186.5(SEMA3F):c.312C>T (p.Cys104=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	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 disorder	GUncertain significance
Select item 3351408	NM_004186.5(SEMA3F):c.315G>A (p.Val105=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3039662	NM_004186.5(SEMA3F):c.336C>T (p.Asn112=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3055194	NM_004186.5(SEMA3F):c.336+7T>G	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	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 disorder	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 disorder	GUncertain significance
Select item 3054704	NM_004186.5(SEMA3F):c.354C>T (p.Phe118=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 2454858	NM_004186.5(SEMA3F):c.355G>A (p.Val119Ile)	SEMA3F (V119I +1 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified	GUncertain significance
Select item 3159735	NM_004186.5(SEMA3F):c.380G>A (p.Arg127Gln)	SEMA3F (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031916	NM_004186.5(SEMA3F):c.399C>T (p.Cys133=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3353941	NM_004186.5(SEMA3F):c.422T>C (p.Met141Thr)	SEMA3F (M141T +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3047027	NM_004186.5(SEMA3F):c.423G>C (p.Met141Ile)	SEMA3F (M141I +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3344094	NM_004186.5(SEMA3F):c.426C>T (p.Cys142=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3348432	NM_004186.5(SEMA3F):c.427A>G (p.Thr143Ala)	SEMA3F (T143A +1 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3357618	NM_004186.5(SEMA3F):c.429C>T (p.Thr143=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3045255	NM_004186.5(SEMA3F):c.441C>T (p.Arg147=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 2322087	NM_004186.5(SEMA3F):c.452C>A (p.Ala151Asp)	SEMA3F (A151D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032580	NM_004186.5(SEMA3F):c.456+10A>T	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	GLikely benign
Select item 3355498	NM_004186.5(SEMA3F):c.457-10G>A	SEMA3F	Single nucleotide variant (intron variant)	SEMA3F-related disorder	GLikely benign
Select item 2537472	NM_004186.5(SEMA3F):c.457G>A (p.Ala153Thr)	SEMA3F (A153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159736	NM_004186.5(SEMA3F):c.482C>T (p.Ala161Val)	SEMA3F (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3054857	NM_004186.5(SEMA3F):c.483G>A (p.Ala161=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 2513675	NM_004186.5(SEMA3F):c.493C>T (p.Arg165Cys)	SEMA3F (R165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3350699	NM_004186.5(SEMA3F):c.494G>A (p.Arg165His)	SEMA3F (R165H)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3348838	NM_004186.5(SEMA3F):c.495C>G (p.Arg165=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3048140	NM_004186.5(SEMA3F):c.495C>T (p.Arg165=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 3357984	NM_004186.5(SEMA3F):c.496G>A (p.Gly166Ser)	SEMA3F (G166S)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3036735	NM_004186.5(SEMA3F):c.509C>T (p.Thr170Met)	SEMA3F (T170M)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3036266	NM_004186.5(SEMA3F):c.510G>A (p.Thr170=)	SEMA3F	Single nucleotide variant (synonymous variant +1 more)	SEMA3F-related disorder	GLikely benign
Select item 2276451	NM_004186.5(SEMA3F):c.514G>A (p.Gly172Ser)	SEMA3F (G172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3351377	NM_004186.5(SEMA3F):c.523C>T (p.Arg175Cys)	SEMA3F (R175C)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	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 disorder	GUncertain significance
Select item 3350618	NM_004186.5(SEMA3F):c.544C>T (p.Arg182Cys)	SEMA3F (R182C)	Single nucleotide variant (missense variant +1 more)	SEMA3F-related disorder	GUncertain significance
Select item 3349298	NM_004186.5(SEMA3F):c.549+1G>A	SEMA3F	Single nucleotide variant (intron variant +1 more)	SEMA3F-related disorder	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	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 disorder	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 disorder	GUncertain significance
Select item 713297	NM_004186.5(SEMA3F):c.582C>T (p.Leu194=)	SEMA3F	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3050349	NM_004186.5(SEMA3F):c.609C>T (p.Tyr203=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3356763	NM_004186.5(SEMA3F):c.610G>A (p.Asp204Asn)	SEMA3F (D105N +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3353542	NM_004186.5(SEMA3F):c.623A>C (p.Asp208Ala)	SEMA3F (D109A +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3348978	NM_004186.5(SEMA3F):c.633G>A (p.Ser211=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	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 disorder	GUncertain significance
Select item 3348833	NM_004186.5(SEMA3F):c.648G>A (p.Glu216=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 2261475	NM_004186.5(SEMA3F):c.652C>G (p.Leu218Val)	SEMA3F (L187V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355999	NM_004186.5(SEMA3F):c.666G>A (p.Val222=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3354710	NM_004186.5(SEMA3F):c.672C>T (p.Ile224=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	GLikely benign
Select item 3349081	NM_004186.5(SEMA3F):c.703C>T (p.Arg235Cys)	SEMA3F (R136C +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3048112	NM_004186.5(SEMA3F):c.717G>A (p.Lys239=)	SEMA3F	Single nucleotide variant (synonymous variant)	SEMA3F-related disorder	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 disorder	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 disorder +1 more	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 disorder	GUncertain significance
Select item 3351269	NM_004186.5(SEMA3F):c.752G>A (p.Arg251Gln)	SEMA3F (R152Q +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance

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