SEMA3B[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	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 2634776	NM_001290060.2(SEMA3B):c.7C>T (p.Arg3Trp)	SEMA3B (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353454	NM_001290060.2(SEMA3B):c.8G>A (p.Arg3Gln)	SEMA3B (R3Q)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3159699	NM_001290060.2(SEMA3B):c.11C>A (p.Ala4Asp)	SEMA3B (A4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357737	NM_001290060.2(SEMA3B):c.12C>T (p.Ala4=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 2628646	NM_001290060.2(SEMA3B):c.13G>A (p.Gly5Arg)	SEMA3B (G5R)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3358833	NM_001290060.2(SEMA3B):c.21C>T (p.Ala7=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3357871	NM_001290060.2(SEMA3B):c.22G>T (p.Ala8Ser)	SEMA3B (A8S)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 2357294	NM_001290060.2(SEMA3B):c.25G>A (p.Val9Met)	SEMA3B (V9M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3346074	NM_001290060.2(SEMA3B):c.32C>T (p.Pro11Leu)	SEMA3B (P11L)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3353550	NM_001290060.2(SEMA3B):c.36C>A (p.Gly12=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 2229215	NM_001290060.2(SEMA3B):c.61C>G (p.Leu21Val)	SEMA3B (L21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045424	NM_001290060.2(SEMA3B):c.63G>A (p.Leu21=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3349480	NM_001290060.2(SEMA3B):c.71C>T (p.Ala24Val)	SEMA3B (A24V)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3357075	NM_001290060.2(SEMA3B):c.72C>T (p.Ala24=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3349314	NM_001290060.2(SEMA3B):c.80G>C (p.Ser27Thr)	SEMA3B (S27T)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3060238	NM_001290060.2(SEMA3B):c.86dup (p.Arg30fs)	SEMA3B (R30fs)	Duplication (frameshift variant)	SEMA3B-related disorder	GBenign
Select item 3357064	NM_001290060.2(SEMA3B):c.81C>G (p.Ser27Arg)	SEMA3B (S27R)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GLikely benign
Select item 3352021	NM_001290060.2(SEMA3B):c.86C>G (p.Pro29Arg)	SEMA3B (P29R)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3030967	NM_001290060.2(SEMA3B):c.88C>T (p.Arg30Cys)	SEMA3B (R30C)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GLikely benign
Select item 3029728	NM_001290060.2(SEMA3B):c.89G>A (p.Arg30His)	SEMA3B (R30H)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3348500	NM_001290060.2(SEMA3B):c.90C>T (p.Arg30=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3353657	NM_001290060.2(SEMA3B):c.95G>T (p.Arg32Leu)	SEMA3B (R32L)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3354872	NM_001290060.2(SEMA3B):c.147G>A (p.Leu49=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3159701	NM_001290060.2(SEMA3B):c.155C>T (p.Thr52Ile)	SEMA3B (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357552	NM_001290060.2(SEMA3B):c.165C>T (p.Tyr55=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GUncertain significance
Select item 3054707	NM_001290060.2(SEMA3B):c.191G>A (p.Arg64His)	SEMA3B (R64H)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 2632087	NM_001290060.2(SEMA3B):c.197G>A (p.Arg66His)	SEMA3B (R66H)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3054981	NM_001290060.2(SEMA3B):c.213C>T (p.Ala71=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GUncertain significance
Select item 3031785	NM_001290060.2(SEMA3B):c.214G>A (p.Glu72Lys)	SEMA3B (E72K)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GLikely benign
Select item 3051968	NM_001290060.2(SEMA3B):c.222T>C (p.His74=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3159704	NM_001290060.2(SEMA3B):c.244A>G (p.Asn82Asp)	SEMA3B (N82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030115	NM_001290060.2(SEMA3B):c.246C>T (p.Asn82=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3056751	NM_001290060.2(SEMA3B):c.257G>A (p.Arg86Gln)	SEMA3B (R86Q)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3354380	NM_001290060.2(SEMA3B):c.258G>T (p.Arg86=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3054026	NM_001290060.2(SEMA3B):c.268-5G>A	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3048220	NM_001290060.2(SEMA3B):c.279G>A (p.Pro93=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3350621	NM_001290060.2(SEMA3B):c.281C>G (p.Ala94Gly)	SEMA3B (A94G)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3357455	NM_001290060.2(SEMA3B):c.324C>T (p.Asp108=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GUncertain significance
Select item 3352292	NM_001290060.2(SEMA3B):c.374G>A (p.Arg125His)	SEMA3B (R125H)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3159705	NM_001290060.2(SEMA3B):c.377C>T (p.Thr126Ile)	SEMA3B (T126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344993	NM_001290060.2(SEMA3B):c.389C>T (p.Ala130Val)	SEMA3B (A130V)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 2634321	NM_001290060.2(SEMA3B):c.398C>T (p.Thr133Met)	SEMA3B (T133M)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 2634726	NM_001290060.2(SEMA3B):c.442C>T (p.Arg148Trp)	SEMA3B (R148W)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3358393	NM_001290060.2(SEMA3B):c.443G>A (p.Arg148Gln)	SEMA3B (R148Q)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 982946	NM_001290060.2(SEMA3B):c.450G>C (p.Glu150Asp)	SEMA3B (E150D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3056699	NM_001290060.2(SEMA3B):c.450+3A>G	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3348284	NM_001290060.2(SEMA3B):c.450+5G>T	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GUncertain significance
Select item 3041893	NM_001290060.2(SEMA3B):c.450+9G>A	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3355050	NM_001290060.2(SEMA3B):c.456C>T (p.Pro152=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3351906	NM_001290060.2(SEMA3B):c.460C>T (p.Leu154Phe)	SEMA3B (L154F)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3038815	NM_001290060.2(SEMA3B):c.462C>T (p.Leu154=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GBenign
Select item 3054630	NM_001290060.2(SEMA3B):c.464G>A (p.Arg155Gln)	SEMA3B (R155Q)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3159706	NM_001290060.2(SEMA3B):c.497G>A (p.Gly166Glu)	SEMA3B (G166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029328	NM_001290060.2(SEMA3B):c.498G>A (p.Gly166=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 2311377	NM_001290060.2(SEMA3B):c.499A>G (p.Lys167Glu)	SEMA3B (K167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035217	NM_001290060.2(SEMA3B):c.500A>G (p.Lys167Arg)	SEMA3B (K167R)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3353414	NM_001290060.2(SEMA3B):c.519G>A (p.Arg173=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3052272	NM_001290060.2(SEMA3B):c.525G>T (p.Arg175=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3032813	NM_001290060.2(SEMA3B):c.534C>T (p.Ser178=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3050584	NM_001290060.2(SEMA3B):c.535G>A (p.Val179Met)	SEMA3B (V179M)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GLikely benign
Select item 2635048	NM_001290060.2(SEMA3B):c.536T>A (p.Val179Glu)	SEMA3B (V179E)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3032680	NM_001290060.2(SEMA3B):c.546G>A (p.Gly182=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3344924	NM_001290060.2(SEMA3B):c.558C>T (p.Tyr186=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GUncertain significance
Select item 3356309	NM_001290060.2(SEMA3B):c.564G>A (p.Gly188=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3356388	NM_001290060.2(SEMA3B):c.579C>T (p.Leu193=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GLikely benign
Select item 3356858	NM_001290060.2(SEMA3B):c.605G>A (p.Arg202His)	SEMA3B (R202H)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3357179	NM_001290060.2(SEMA3B):c.646G>A (p.Asp216Asn)	SEMA3B (D216N)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3349356	NM_001290060.2(SEMA3B):c.650C>G (p.Ser217Cys)	SEMA3B (S217C)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3047801	NM_001290060.2(SEMA3B):c.663T>C (p.Asn221=)	SEMA3B	Single nucleotide variant (synonymous variant)	SEMA3B-related disorder	GUncertain significance
Select item 2637163	NM_001290060.2(SEMA3B):c.663T>A (p.Asn221Lys)	SEMA3B (N221K)	Single nucleotide variant (missense variant)	SEMA3B-related disorder	GUncertain significance
Select item 3357889	NM_001290060.2(SEMA3B):c.664+5G>T	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GUncertain significance
Select item 3354073	NM_001290060.2(SEMA3B):c.665-7C>T	LOC129936787, MIR6872 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3356287	NM_001290060.2(SEMA3B):c.669C>T (p.Pro223=)	LOC129936787, SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GUncertain significance
Select item 3353792	NM_001290060.2(SEMA3B):c.683T>C (p.Val228Ala)	LOC129936787, SEMA3B (V228A)	Single nucleotide variant (missense variant +2 more)	SEMA3B-related disorder	GUncertain significance
Select item 2634858	NM_001290060.2(SEMA3B):c.689G>T (p.Trp230Leu)	LOC129936787, SEMA3B (W230L)	Single nucleotide variant (missense variant +2 more)	SEMA3B-related disorder	GUncertain significance
Select item 3029421	NM_001290060.2(SEMA3B):c.696G>A (p.Pro232=)	LOC129936787, SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3352269	NM_001290060.2(SEMA3B):c.729CTT[2] (p.Phe246del)	LOC129936787, SEMA3B (F246del)	Microsatellite (inframe_deletion +2 more)	SEMA3B-related disorder	GUncertain significance
Select item 3054514	NM_001290060.2(SEMA3B):c.765G>A (p.Pro255=)	SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3041369	NM_001290060.2(SEMA3B):c.771G>C (p.Leu257=)	SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3058948	NM_001290060.2(SEMA3B):c.782C>T (p.Ser261Phe)	SEMA3B (S261F)	Single nucleotide variant (missense variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3357767	NM_001290060.2(SEMA3B):c.789C>T (p.Ser263=)	SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 3353690	NM_001290060.2(SEMA3B):c.810+6G>T	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3354859	NM_001290060.2(SEMA3B):c.813C>T (p.Asn271=)	SEMA3B	Single nucleotide variant (synonymous variant +2 more)	SEMA3B-related disorder	GLikely benign
Select item 2213198	NM_001290060.2(SEMA3B):c.848G>C (p.Trp283Ser)	SEMA3B (W283S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3350453	NM_001290060.2(SEMA3B):c.887C>T (p.Pro296Leu)	SEMA3B (P296L)	Single nucleotide variant (missense variant +2 more)	SEMA3B-related disorder	GUncertain significance
Select item 3349437	NM_001290060.2(SEMA3B):c.923-16G>A	SEMA3B	Single nucleotide variant (intron variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3347804	NM_001290060.2(SEMA3B):c.926A>C (p.Asp309Ala)	SEMA3B (D309A +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3358324	NM_001290060.2(SEMA3B):c.930_931del (p.Phe311fs)	SEMA3B (F311fs +1 more)	Microsatellite (frameshift variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3349916	NM_001290060.2(SEMA3B):c.941C>G (p.Ser314Cys)	SEMA3B (S314C +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GLikely benign
Select item 3031120	NM_001290060.2(SEMA3B):c.945G>A (p.Ser315=)	SEMA3B	Single nucleotide variant (synonymous variant +1 more)	SEMA3B-related disorder	GLikely benign
Select item 3042468	NM_001290060.2(SEMA3B):c.955C>T (p.Arg319Trp)	SEMA3B (R319W +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GLikely benign
Select item 3355939	NM_001290060.2(SEMA3B):c.968T>C (p.Leu323Pro)	SEMA3B (L323P +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3351458	NM_001290060.2(SEMA3B):c.974C>A (p.Ala325Asp)	SEMA3B (A325D +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3346114	NM_001290060.2(SEMA3B):c.974C>T (p.Ala325Val)	SEMA3B (A325V +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GUncertain significance
Select item 3354989	NM_001290060.2(SEMA3B):c.983C>T (p.Ser328Phe)	SEMA3B (S328F +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GLikely benign
Select item 3345262	NM_001290060.2(SEMA3B):c.992+9C>G	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3355406	NM_001290060.2(SEMA3B):c.993-8G>C	SEMA3B	Single nucleotide variant (intron variant)	SEMA3B-related disorder	GLikely benign
Select item 3352072	NM_001290060.2(SEMA3B):c.1010C>G (p.Ser337Cys)	SEMA3B (S336C +2 more)	Single nucleotide variant (missense variant +1 more)	SEMA3B-related disorder	GUncertain significance

<< First< Prev

Page of 3