ClinVar for Gene (Select 10371) - ClinVar - NCBI

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	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 3058298	NM_006080.3(SEMA3A):c.391G>A (p.Ala131Thr)	SEMA3A (A131T)	Single nucleotide variant (missense 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 3055745	NM_006080.3(SEMA3A):c.151T>C (p.Leu51=)	SEMA3A	Single nucleotide variant (synonymous 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 3054522	NM_006080.3(SEMA3A):c.1353C>T (p.Ile451=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	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 3054155	NM_006080.3(SEMA3A):c.-9G>A	SEMA3A	Single nucleotide variant (5 prime UTR 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 3053912	NM_006080.3(SEMA3A):c.710A>G (p.Asn237Ser)	SEMA3A (N237S)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GLikely benign
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 3051902	NM_006080.3(SEMA3A):c.492C>T (p.Asn164=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
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 3050862	NM_006080.3(SEMA3A):c.1495-5C>T	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	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 3036914	NM_006080.3(SEMA3A):c.1560C>T (p.Tyr520=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
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 3032806	NM_006080.3(SEMA3A):c.1485C>T (p.Ser495=)	SEMA3A	Single nucleotide variant (synonymous 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 3030456	NM_006080.3(SEMA3A):c.986C>T (p.Thr329Met)	SEMA3A (T329M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
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 3029332	NM_006080.3(SEMA3A):c.1860+5A>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related condition	GLikely 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 3029137	NM_006080.3(SEMA3A):c.1815G>A (p.Leu605=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related condition	GLikely benign
Select item 3021732	NM_006080.3(SEMA3A):c.1360+20C>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020400	NM_006080.3(SEMA3A):c.1495-13A>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020286	NM_006080.3(SEMA3A):c.1461T>C (p.Thr487=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984459	NM_006080.3(SEMA3A):c.625C>G (p.His209Asp)	SEMA3A (H209D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2898068	NM_006080.3(SEMA3A):c.1623A>G (p.Ala541=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	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 2875504	NM_006080.3(SEMA3A):c.294C>T (p.Thr98=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864621	NM_006080.3(SEMA3A):c.12A>G (p.Leu4=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842612	NM_006080.3(SEMA3A):c.548-7A>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835470	NM_006080.3(SEMA3A):c.506G>A (p.Ser169Asn)	SEMA3A (S169N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806348	NM_006080.3(SEMA3A):c.456C>G (p.Asp152Glu)	SEMA3A (D152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769220	NM_006080.3(SEMA3A):c.9G>C (p.Trp3Cys)	SEMA3A (W3C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2753578	NM_006080.3(SEMA3A):c.2030T>A (p.Leu677His)	SEMA3A (L677H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704009	NM_006080.3(SEMA3A):c.514G>A (p.Asp172Asn)	SEMA3A (D172N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685251	GRCh37/hg19 7q21.11(chr7:83652875-84395557)x1	SEMA3A	Copy number loss	not provided	GUncertain significance
Select item 2684493	GRCh37/hg19 7q21.11(chr7:83744959-84240868)x3	SEMA3A	Copy number gain	not provided	GUncertain significance
Select item 2684492	GRCh37/hg19 7q21.11(chr7:83691319-85968722)x3	SEMA3A, SEMA3D	Copy number gain	not provided	GUncertain significance
Select item 2657652	NM_006080.3(SEMA3A):c.1543C>T (p.His515Tyr)	SEMA3A (H515Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2636039	NM_006080.3(SEMA3A):c.1744G>A (p.Glu582Lys)	SEMA3A (E582K)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
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 2635637	NM_006080.3(SEMA3A):c.1263A>G (p.Ile421Met)	SEMA3A (I421M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
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 2634952	NM_006080.3(SEMA3A):c.1799A>T (p.Lys600Met)	SEMA3A (K600M)	Single nucleotide variant (missense variant)	SEMA3A-related condition	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 2634295	NM_006080.3(SEMA3A):c.1568C>T (p.Ala523Val)	SEMA3A (A523V)	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 2634103	NM_006080.3(SEMA3A):c.1765G>C (p.Glu589Gln)	SEMA3A (E589Q)	Single nucleotide variant (missense variant)	SEMA3A-related condition	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 2629220	NM_006080.3(SEMA3A):c.1849C>T (p.Arg617Ter)	SEMA3A (R617*)	Single nucleotide variant (nonsense)	SEMA3A-related condition	GUncertain significance
Select item 2629062	NM_006080.3(SEMA3A):c.1517C>T (p.Thr506Met)	SEMA3A (T506M)	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 2628811	NM_006080.3(SEMA3A):c.50C>T (p.Thr17Ile)	SEMA3A (T17I)	Single nucleotide variant (missense variant)	SEMA3A-related condition	GUncertain significance
Select item 2599485	NM_006080.3(SEMA3A):c.2140A>C (p.Asn714His)	SEMA3A (N714H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2550283	NM_006080.3(SEMA3A):c.2230A>G (p.Ser744Gly)	SEMA3A (S744G)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GUncertain significance
Select item 2543356	NM_006080.3(SEMA3A):c.754A>G (p.Ile252Val)	SEMA3A (I252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490901	NM_006080.3(SEMA3A):c.2132A>G (p.Asn711Ser)	SEMA3A (N711S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484918	NM_006080.3(SEMA3A):c.712C>A (p.Pro238Thr)	SEMA3A (P238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457593	NM_006080.3(SEMA3A):c.257A>G (p.Lys86Arg)	SEMA3A (K86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425807	NC_000007.13:g.(?_81331897)_(84751207_?)dup	CACNA2D1, HGF +4 more	Duplication	CHARGE association	GUncertain significance
Select item 2372573	NM_006080.3(SEMA3A):c.1546C>T (p.Arg516Trp)	SEMA3A (R516W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2330401	NM_006080.3(SEMA3A):c.1800G>T (p.Lys600Asn)	SEMA3A (K600N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327479	NM_006080.3(SEMA3A):c.1163G>C (p.Gly388Ala)	SEMA3A (G388A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320438	NM_006080.3(SEMA3A):c.1922A>T (p.Gln641Leu)	SEMA3A (Q641L)	Single nucleotide variant (missense variant)	SEMA3A-related condition +1 more	GUncertain significance
Select item 2272271	NM_006080.3(SEMA3A):c.2081G>A (p.Ser694Asn)	SEMA3A (S694N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268081	NM_006080.3(SEMA3A):c.1655G>T (p.Arg552Leu)	SEMA3A (R552L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2207555	NM_006080.3(SEMA3A):c.1778C>T (p.Thr593Ile)	SEMA3A (T593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2143231	NM_006080.3(SEMA3A):c.1797G>A (p.Pro599=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2089876	NM_006080.3(SEMA3A):c.1952C>A (p.Ala651Glu)	SEMA3A (A651E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024816	NM_006080.3(SEMA3A):c.58G>A (p.Ala20Thr)	SEMA3A (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975173	NM_006080.3(SEMA3A):c.810+20del	SEMA3A	Deletion (intron variant)	not provided	GBenign
Select item 1966826	NM_006080.3(SEMA3A):c.2020G>A (p.Glu674Lys)	SEMA3A (E674K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941145	NM_006080.3(SEMA3A):c.2257A>C (p.Asn753His)	SEMA3A (N753H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924260	NM_006080.3(SEMA3A):c.1453-15C>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923986	NM_006080.3(SEMA3A):c.73G>A (p.Gly25Arg)	SEMA3A (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923690	NM_006080.3(SEMA3A):c.229A>G (p.Ile77Val)	SEMA3A (I77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1919508	NM_006080.3(SEMA3A):c.922C>A (p.Leu308Met)	SEMA3A (L308M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1632292	NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)	SEMA3A (V435I)	Inversion (missense variant)	not provided +1 more	GLikely benign
Select item 1601502	NM_006080.3(SEMA3A):c.1361-14A>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1576702	NM_006080.3(SEMA3A):c.547+20_547+23del	SEMA3A	Deletion (intron variant)	not provided	GBenign
Select item 1528516	NM_006080.3(SEMA3A):c.926-13dup	SEMA3A	Duplication (intron variant)	not provided	GBenign
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	GPathogenic
Select item 1454415	NC_000007.13:g.(?_80276057)_(83739925_?)del	CACNA2D1, CD36 +5 more	Deletion	not provided	GPathogenic
Select item 1444604	NM_006080.3(SEMA3A):c.366_367delinsTA (p.Lys122_Ala123delinsAsnThr)	SEMA3A	Indel (missense variant)	not provided	GUncertain significance
Select item 1385323	NM_006080.3(SEMA3A):c.1910G>A (p.Arg637His)	SEMA3A (R637H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341024	GRCh37/hg19 7q21.11(chr7:82958543-84062357)x3	SEMA3A, SEMA3E	Copy number gain	not provided	GUncertain significance
Select item 1338530	NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter)	SEMA3A (R555*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity

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