"PreventionGenetics, part of Exact Sciences"[submitter] AND "SEMA3A"[g - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061718	NM_006080.3(SEMA3A):c.*1G>A	SEMA3A	Single nucleotide variant (3 prime UTR variant)	SEMA3A-related condition	GLikely benign
Select item 3029529	NM_006080.3(SEMA3A):c.2286C>T (p.His762=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 3056586	NM_006080.3(SEMA3A):c.2267G>A (p.Gly756Asp)	SEMA3A (G756D)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2550283	NM_006080.3(SEMA3A):c.2230A>G (p.Ser744Gly)	SEMA3A (S744G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136550	NM_006080.3(SEMA3A):c.2200C>T (p.Arg734Trp)	SEMA3A (R734W)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GUncertain significance
Select item 68835	NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His)	SEMA3A (R733H)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GUncertain significance
Select item 743998	NM_006080.3(SEMA3A):c.2160G>A (p.Glu720=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 2174235	NM_006080.3(SEMA3A):c.2150_2151inv (p.Thr717Met)	SEMA3A (T717M)	Inversion (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 180149	NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile)	SEMA3A (T717I)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 68833	NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)	SEMA3A (T688A)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GUncertain significance
Select item 2634572	NM_006080.3(SEMA3A):c.2001_2003dup (p.Ile668_Asp669insIle)	SEMA3A	Duplication (inframe_indel +1 more)	SEMA3A-related condition	GUncertain significance
Select item 2589600	NM_006080.3(SEMA3A):c.1954G>A (p.Val652Met)	SEMA3A (V652M)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 719714	NM_006080.3(SEMA3A):c.1953G>A (p.Ala651=)	SEMA3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2320438	NM_006080.3(SEMA3A):c.1922A>T (p.Gln641Leu)	SEMA3A (Q641L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3032949	NM_006080.3(SEMA3A):c.1870G>A (p.Asp624Asn)	SEMA3A (D624N)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GLikely benign
Select item 3029332	NM_006080.3(SEMA3A):c.1860+5A>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	GLikely benign
Select item 3032537	NM_006080.3(SEMA3A):c.1849C>A (p.Arg617=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2629220	NM_006080.3(SEMA3A):c.1849C>T (p.Arg617Ter)	SEMA3A (R617*)	Single nucleotide variant (nonsense)	SEMA3A-related condition	GUncertain significance
Select item 3029137	NM_006080.3(SEMA3A):c.1815G>A (p.Leu605=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 730122	NM_006080.3(SEMA3A):c.1812G>A (p.Ala604=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634952	NM_006080.3(SEMA3A):c.1799A>T (p.Lys600Met)	SEMA3A (K600M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2634103	NM_006080.3(SEMA3A):c.1765G>C (p.Glu589Gln)	SEMA3A (E589Q)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 3051506	NM_006080.3(SEMA3A):c.1752C>T (p.Ile584=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2636039	NM_006080.3(SEMA3A):c.1744G>A (p.Glu582Lys)	SEMA3A (E582K)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 287083	NM_006080.3(SEMA3A):c.1654C>T (p.Arg552Cys)	SEMA3A (R552C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 733779	NM_006080.3(SEMA3A):c.1644T>A (p.Thr548=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054306	NM_006080.3(SEMA3A):c.1616G>C (p.Gly539Ala)	SEMA3A (G539A)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2634295	NM_006080.3(SEMA3A):c.1568C>T (p.Ala523Val)	SEMA3A (A523V)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 3036914	NM_006080.3(SEMA3A):c.1560C>T (p.Tyr520=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2372573	NM_006080.3(SEMA3A):c.1546C>T (p.Arg516Trp)	SEMA3A (R516W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2629062	NM_006080.3(SEMA3A):c.1517C>T (p.Thr506Met)	SEMA3A (T506M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3050862	NM_006080.3(SEMA3A):c.1495-5C>T	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	GLikely benign
Select item 3032806	NM_006080.3(SEMA3A):c.1485C>T (p.Ser495=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2636001	NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)	SEMA3A (R484W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 16 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 2975246	NM_006080.3(SEMA3A):c.1404T>C (p.Thr468=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 746065	NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)	SEMA3A (V461A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 756094	NM_006080.3(SEMA3A):c.1371C>T (p.Thr457=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 3054522	NM_006080.3(SEMA3A):c.1353C>T (p.Ile451=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 3053917	NM_006080.3(SEMA3A):c.1306G>A (p.Val436Ile)	SEMA3A (V436I)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 3052109	NM_006080.3(SEMA3A):c.1278T>C (p.Asp426=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2635637	NM_006080.3(SEMA3A):c.1263A>G (p.Ile421Met)	SEMA3A (I421M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 68831	NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)	SEMA3A (I400V)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2636663	NM_006080.3(SEMA3A):c.1121C>A (p.Pro374His)	SEMA3A (P374H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712660	NM_006080.3(SEMA3A):c.1026G>A (p.Met342Ile)	SEMA3A (M342I)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 768175	NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val)	SEMA3A (I334V)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GBenign/Likely benign
Select item 3029330	NM_006080.3(SEMA3A):c.996-4T>C	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	GLikely benign
Select item 3030456	NM_006080.3(SEMA3A):c.986C>T (p.Thr329Met)	SEMA3A (T329M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2889335	NM_006080.3(SEMA3A):c.939A>G (p.Leu313=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 2634968	NM_006080.3(SEMA3A):c.838G>A (p.Val280Met)	SEMA3A (V280M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2634267	NM_006080.3(SEMA3A):c.787G>A (p.Ala263Thr)	SEMA3A (A263T)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 726160	NM_006080.3(SEMA3A):c.786C>T (p.His262=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2252886	NM_006080.3(SEMA3A):c.743G>A (p.Arg248His)	SEMA3A (R248H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2630557	NM_006080.3(SEMA3A):c.727G>A (p.Val243Ile)	SEMA3A (V243I)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 3053912	NM_006080.3(SEMA3A):c.710A>G (p.Asn237Ser)	SEMA3A (N237S)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GLikely benign
Select item 3054995	NM_006080.3(SEMA3A):c.667+7G>T	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	GLikely benign
Select item 714303	NM_006080.3(SEMA3A):c.645G>A (p.Gln215=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043273	NM_006080.3(SEMA3A):c.569C>T (p.Thr190Ile)	SEMA3A (T190I)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 764803	NM_006080.3(SEMA3A):c.552A>G (p.Gly184=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition +1 more	GLikely benign
Select item 3051902	NM_006080.3(SEMA3A):c.492C>T (p.Asn164=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 2356542	NM_006080.3(SEMA3A):c.478T>A (p.Ser160Thr)	SEMA3A (S160T)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GUncertain significance
Select item 68836	NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)	SEMA3A (N153S)	Single nucleotide variant (missense variant)	SEMA3A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3058298	NM_006080.3(SEMA3A):c.391G>A (p.Ala131Thr)	SEMA3A (A131T)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GLikely benign
Select item 1293022	NM_006080.3(SEMA3A):c.267A>G (p.Gln89=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 725452	NM_006080.3(SEMA3A):c.201T>C (p.Ser67=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 68832	NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp)	SEMA3A (R66W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3055745	NM_006080.3(SEMA3A):c.151T>C (p.Leu51=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 727583	NM_006080.3(SEMA3A):c.57A>C (p.Arg19Ser)	SEMA3A (R19S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2628811	NM_006080.3(SEMA3A):c.50C>T (p.Thr17Ile)	SEMA3A (T17I)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2628988	NM_006080.3(SEMA3A):c.9G>T (p.Trp3Cys)	SEMA3A (W3C)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 3054155	NM_006080.3(SEMA3A):c.-9G>A	SEMA3A	Single nucleotide variant (5 prime UTR variant)	SEMA3A-related condition	GLikely benign

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Items: 70