10371[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 545351	NC_000007.14:g.(?_81478831)_(84097791_?)del	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 254281	Single allele	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 39715	NC_000007.14:g.(83833300_?)_(?_84046323)del	LOC129998733, LOC129998734 +1 more	Deletion	Hypogonadotropic hypogonadism 16 with or without anosmia	Grisk factor
Select item 3061718	NM_006080.3(SEMA3A):c.*1G>A	SEMA3A	Single nucleotide variant (3 prime UTR variant)	SEMA3A-related disorder	GLikely benign
Select item 3029529	NM_006080.3(SEMA3A):c.2286C>T (p.His762=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3056586	NM_006080.3(SEMA3A):c.2267G>A (p.Gly756Asp)	SEMA3A (G756D)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	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 748650	NM_006080.3(SEMA3A):c.2238A>G (p.Lys746=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 disorder +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 disorder +2 more	GUncertain significance
Select item 68834	NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln)	SEMA3A (R730Q)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 743998	NM_006080.3(SEMA3A):c.2160G>A (p.Glu720=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder +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 194754	NM_006080.3(SEMA3A):c.2151A>G (p.Thr717=)	SEMA3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 180149	NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile)	SEMA3A (T717I)	Single nucleotide variant (missense variant)	Delayed puberty +2 more	GConflicting classifications of pathogenicity
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 2490901	NM_006080.3(SEMA3A):c.2132A>G (p.Asn711Ser)	SEMA3A (N711S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 68833	NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)	SEMA3A (T688A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder +2 more	GUncertain significance
Select item 739349	NM_006080.3(SEMA3A):c.2046T>C (p.Asp682=)	SEMA3A	Single nucleotide variant (synonymous 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 1966826	NM_006080.3(SEMA3A):c.2020G>A (p.Glu674Lys)	SEMA3A (E674K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634572	NM_006080.3(SEMA3A):c.2001_2003dup (p.Ile668_Asp669insIle)	SEMA3A	Duplication (inframe_insertion +1 more)	SEMA3A-related disorder	GUncertain significance
Select item 1312630	NM_006080.3(SEMA3A):c.1960C>T (p.His654Tyr)	SEMA3A (H654Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2589600	NM_006080.3(SEMA3A):c.1954G>A (p.Val652Met)	SEMA3A (V652M)	Single nucleotide variant (missense variant)	SEMA3A-related disorder +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 provided +2 more	GBenign/Likely benign
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 1315200	NM_006080.3(SEMA3A):c.1926G>T (p.Lys642Asn)	SEMA3A (K642N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731604	NM_006080.3(SEMA3A):c.1923G>C (p.Gln641His)	SEMA3A (Q641H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1385323	NM_006080.3(SEMA3A):c.1910G>A (p.Arg637His)	SEMA3A (R637H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032949	NM_006080.3(SEMA3A):c.1870G>A (p.Asp624Asn)	SEMA3A (D624N)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GLikely benign
Select item 1211423	NM_006080.3(SEMA3A):c.1860+325del	SEMA3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1244019	NM_006080.3(SEMA3A):c.1860+164C>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292758	NM_006080.3(SEMA3A):c.1860+30A>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3029332	NM_006080.3(SEMA3A):c.1860+5A>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3159698	NM_006080.3(SEMA3A):c.1858G>A (p.Glu620Lys)	SEMA3A (E620K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325880	NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln)	SEMA3A (R617Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 16 with or without anosmia	Grisk factor
Select item 3032537	NM_006080.3(SEMA3A):c.1849C>A (p.Arg617=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 2629220	NM_006080.3(SEMA3A):c.1849C>T (p.Arg617Ter)	SEMA3A (R617*)	Single nucleotide variant (nonsense)	SEMA3A-related disorder	GUncertain significance
Select item 3159697	NM_006080.3(SEMA3A):c.1820A>T (p.Tyr607Phe)	SEMA3A (Y607F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029137	NM_006080.3(SEMA3A):c.1815G>A (p.Leu605=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	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 2330401	NM_006080.3(SEMA3A):c.1800G>T (p.Lys600Asn)	SEMA3A (K600N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634952	NM_006080.3(SEMA3A):c.1799A>T (p.Lys600Met)	SEMA3A (K600M)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 2143231	NM_006080.3(SEMA3A):c.1797G>A (p.Pro599=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 711040	NM_006080.3(SEMA3A):c.1776C>T (p.Ser592=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634103	NM_006080.3(SEMA3A):c.1765G>C (p.Glu589Gln)	SEMA3A (E589Q)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3051506	NM_006080.3(SEMA3A):c.1752C>T (p.Ile584=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 2636039	NM_006080.3(SEMA3A):c.1744G>A (p.Glu582Lys)	SEMA3A (E582K)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 1294265	NM_006080.3(SEMA3A):c.1718-230G>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266974	NM_006080.3(SEMA3A):c.1717+89TC[4]	SEMA3A	Microsatellite (intron variant)	not provided	GBenign
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
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 287083	NM_006080.3(SEMA3A):c.1654C>T (p.Arg552Cys)	SEMA3A (R552C)	Single nucleotide variant (missense variant)	SEMA3A-related disorder +1 more	GUncertain significance
Select item 1174901	NM_006080.3(SEMA3A):c.1653-6C>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230565	NM_006080.3(SEMA3A):c.1653-85A>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275418	NM_006080.3(SEMA3A):c.1652+140G>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234120	NM_006080.3(SEMA3A):c.1652+97T>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733779	NM_006080.3(SEMA3A):c.1644T>A (p.Thr548=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder +1 more	GLikely benign
Select item 39717	NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs)	SEMA3A (D538fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 16 with or without anosmia	Grisk factor
Select item 2898068	NM_006080.3(SEMA3A):c.1623A>G (p.Ala541=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3054306	NM_006080.3(SEMA3A):c.1616G>C (p.Gly539Ala)	SEMA3A (G539A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 713108	NM_006080.3(SEMA3A):c.1596C>T (p.Asp532=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634295	NM_006080.3(SEMA3A):c.1568C>T (p.Ala523Val)	SEMA3A (A523V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 1262671	NM_006080.3(SEMA3A):c.1563G>C (p.Gly521=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036914	NM_006080.3(SEMA3A):c.1560C>T (p.Tyr520=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
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 2657652	NM_006080.3(SEMA3A):c.1543C>T (p.His515Tyr)	SEMA3A (H515Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418484	NM_006080.3(SEMA3A):c.1531C>T (p.Gln511Ter)	SEMA3A (Q511*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2629062	NM_006080.3(SEMA3A):c.1517C>T (p.Thr506Met)	SEMA3A (T506M)	Single nucleotide variant (missense variant)	SEMA3A-related disorder +1 more	GUncertain significance
Select item 3050862	NM_006080.3(SEMA3A):c.1495-5C>T	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	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 1195562	NM_006080.3(SEMA3A):c.1494+162T>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245431	NM_006080.3(SEMA3A):c.1494+132A>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221467	NM_006080.3(SEMA3A):c.1494+32C>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032806	NM_006080.3(SEMA3A):c.1485C>T (p.Ser495=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3020286	NM_006080.3(SEMA3A):c.1461T>C (p.Thr487=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778023	NM_006080.3(SEMA3A):c.1458G>A (p.Pro486=)	SEMA3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1179884	NM_006080.3(SEMA3A):c.1457C>T (p.Pro486Leu)	SEMA3A (P486L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225647	NM_006080.3(SEMA3A):c.1453-9del	SEMA3A	Deletion (intron variant)	not provided	GBenign
Select item 1924260	NM_006080.3(SEMA3A):c.1453-15C>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271493	NM_006080.3(SEMA3A):c.1452+276_1452+277insTATG	SEMA3A	Insertion (intron variant)	not provided	GBenign
Select item 1265902	NM_006080.3(SEMA3A):c.1452+243T>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
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)	not provided +1 more	GLikely benign
Select item 746065	NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)	SEMA3A (V461A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1325879	NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile)	SEMA3A (V458I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 16 with or without anosmia	Grisk factor
Select item 756094	NM_006080.3(SEMA3A):c.1371C>T (p.Thr457=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder +1 more	GLikely benign
Select item 745641	NM_006080.3(SEMA3A):c.1361-4A>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601502	NM_006080.3(SEMA3A):c.1361-14A>G	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183281	NM_006080.3(SEMA3A):c.1361-28G>C	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300329	NM_006080.3(SEMA3A):c.1361-42G>T	SEMA3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231850	NM_006080.3(SEMA3A):c.1361-52T>A	SEMA3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248345	NM_006080.3(SEMA3A):c.1361-91_1361-88del	SEMA3A	Deletion (intron variant)	not provided	GBenign

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