ClinVar for Gene (Select 223117) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159720	NM_001384900.1(SEMA3D):c.583A>G (p.Met195Val)	SEMA3D (M195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159719	NM_001384900.1(SEMA3D):c.4A>C (p.Asn2His)	SEMA3D (N2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159718	NM_001384900.1(SEMA3D):c.335A>T (p.Glu112Val)	SEMA3D (E112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159717	NM_001384900.1(SEMA3D):c.2129G>A (p.Arg710Gln)	LOC126860094, SEMA3D (R710Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159715	NM_001384900.1(SEMA3D):c.203T>G (p.Leu68Arg)	SEMA3D (L68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159714	NM_001384900.1(SEMA3D):c.1937C>T (p.Thr646Met)	LOC126860094, SEMA3D (T646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159712	NM_001384900.1(SEMA3D):c.1316C>A (p.Thr439Lys)	SEMA3D (T439K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159711	NM_001384900.1(SEMA3D):c.1160A>G (p.Asp387Gly)	SEMA3D (D387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060976	NM_001384900.1(SEMA3D):c.2101A>C (p.Lys701Gln)	LOC126860094, SEMA3D (K701Q)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GBenign
Select item 3060649	NM_001384900.1(SEMA3D):c.1578G>A (p.Leu526=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GBenign
Select item 3056043	NM_001384900.1(SEMA3D):c.683T>C (p.Ile228Thr)	SEMA3D (I228T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3055058	NM_001384900.1(SEMA3D):c.1901G>A (p.Arg634Gln)	SEMA3D (R634Q)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3054960	NM_001384900.1(SEMA3D):c.922C>T (p.Leu308=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3054669	NM_001384900.1(SEMA3D):c.1048T>C (p.Ser350Pro)	SEMA3D (S350P)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3053469	NM_001384900.1(SEMA3D):c.1102G>A (p.Val368Ile)	SEMA3D (V368I)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3053236	NM_001384900.1(SEMA3D):c.693C>T (p.Asp231=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3051634	NM_001384900.1(SEMA3D):c.2061A>G (p.Glu687=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3049025	NM_001384900.1(SEMA3D):c.2040T>A (p.Thr680=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3048683	NM_001384900.1(SEMA3D):c.168T>C (p.Asn56=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3048512	NM_001384900.1(SEMA3D):c.1290C>T (p.Ser430=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3047286	NM_001384900.1(SEMA3D):c.903G>A (p.Thr301=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3044369	NM_001384900.1(SEMA3D):c.1503+9dup	SEMA3D	Duplication (intron variant)	SEMA3D-related disorder	GLikely benign
Select item 3041542	NM_001384900.1(SEMA3D):c.1047-5del	SEMA3D	Deletion (intron variant)	SEMA3D-related disorder	GLikely benign
Select item 3036509	NM_001384900.1(SEMA3D):c.477T>A (p.Asp159Glu)	SEMA3D (D159E)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3036081	NM_001384900.1(SEMA3D):c.812G>A (p.Gly271Asp)	SEMA3D (G271D)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GLikely benign
Select item 3036066	NM_001384900.1(SEMA3D):c.1734C>T (p.Gly578=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3035226	NM_001384900.1(SEMA3D):c.1526T>C (p.Met509Thr)	SEMA3D (M509T)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3034863	NM_001384900.1(SEMA3D):c.736A>G (p.Thr246Ala)	SEMA3D (T246A)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GLikely benign
Select item 3034581	NM_001384900.1(SEMA3D):c.961T>A (p.Tyr321Asn)	SEMA3D (Y321N)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GLikely benign
Select item 3033163	NM_001384900.1(SEMA3D):c.664A>G (p.Thr222Ala)	SEMA3D (T222A)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GLikely benign
Select item 3032828	NM_001384900.1(SEMA3D):c.1092C>T (p.Asp364=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3032405	NM_001384900.1(SEMA3D):c.1431C>G (p.Leu477=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3032263	NM_001384900.1(SEMA3D):c.2147A>G (p.Tyr716Cys)	LOC126860094, SEMA3D (Y716C)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3031992	NM_001384900.1(SEMA3D):c.1068T>C (p.Ala356=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3031892	NM_001384900.1(SEMA3D):c.160C>T (p.Leu54Phe)	SEMA3D (L54F)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GLikely benign
Select item 3031556	NM_001384900.1(SEMA3D):c.1704-4G>A	SEMA3D	Single nucleotide variant (intron variant)	SEMA3D-related disorder	GLikely benign
Select item 3031487	NM_001384900.1(SEMA3D):c.459A>G (p.Pro153=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3031047	NM_001384900.1(SEMA3D):c.1746C>G (p.Thr582=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3030163	NM_001384900.1(SEMA3D):c.2193C>T (p.Cys731=)	SEMA3D, LOC126860094	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3030078	NM_001384900.1(SEMA3D):c.84C>T (p.Thr28=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3029219	NM_001384900.1(SEMA3D):c.2151C>A (p.Ile717=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3029123	NM_001384900.1(SEMA3D):c.502A>G (p.Ile168Val)	SEMA3D (I168V)	Single nucleotide variant (missense variant)	SEMA3D-related disorder +1 more	GUncertain significance
Select item 2684492	GRCh37/hg19 7q21.11(chr7:83691319-85968722)x3	SEMA3A, SEMA3D	Copy number gain	not provided	GUncertain significance
Select item 2657656	NM_001384900.1(SEMA3D):c.411C>T (p.Pro137=)	SEMA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657655	NM_001384900.1(SEMA3D):c.822C>T (p.Ser274=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder +1 more	GLikely benign
Select item 2657654	NM_001384900.1(SEMA3D):c.1502A>C (p.Lys501Thr)	SEMA3D (K501T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657653	NM_001384900.1(SEMA3D):c.2211G>A (p.Arg737=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder +1 more	GLikely benign
Select item 2636865	NM_001384900.1(SEMA3D):c.2194G>A (p.Glu732Lys)	LOC126860094, SEMA3D (E732K)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2636666	NM_001384900.1(SEMA3D):c.110C>A (p.Thr37Asn)	SEMA3D (T37N)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2636517	NM_001384900.1(SEMA3D):c.2027T>C (p.Ile676Thr)	LOC126860094, SEMA3D (I676T)	Single nucleotide variant (missense variant)	SEMA3D-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635896	NM_001384900.1(SEMA3D):c.1369G>A (p.Val457Ile)	SEMA3D (V457I)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2635818	NM_001384900.1(SEMA3D):c.338G>A (p.Arg113Gln)	SEMA3D (R113Q)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2635412	NM_001384900.1(SEMA3D):c.473T>A (p.Ile158Asn)	SEMA3D (I158N)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2634977	NM_001384900.1(SEMA3D):c.1957C>G (p.Arg653Gly)	LOC126860094, SEMA3D (R653G)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2634679	NM_001384900.1(SEMA3D):c.295A>T (p.Asn99Tyr)	SEMA3D (N99Y)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2634329	NM_001384900.1(SEMA3D):c.1715G>A (p.Arg572His)	SEMA3D (R572H)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2634320	NM_001384900.1(SEMA3D):c.2176A>G (p.Ser726Gly)	LOC126860094, SEMA3D (S726G)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2632076	NM_001384900.1(SEMA3D):c.455A>G (p.His152Arg)	SEMA3D (H152R)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2629201	NM_001384900.1(SEMA3D):c.1714C>T (p.Arg572Cys)	SEMA3D (R572C)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2629052	NM_001384900.1(SEMA3D):c.2317A>G (p.Arg773Gly)	LOC126860094, SEMA3D (R773G)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2628791	NM_001384900.1(SEMA3D):c.1527G>A (p.Met509Ile)	SEMA3D (M509I)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2615395	NM_001384900.1(SEMA3D):c.1612G>T (p.Gly538Trp)	SEMA3D (G538W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608061	NM_001384900.1(SEMA3D):c.122A>C (p.Asn41Thr)	SEMA3D (N41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558279	NM_001384900.1(SEMA3D):c.1517T>C (p.Ile506Thr)	SEMA3D (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541063	NM_001384900.1(SEMA3D):c.895A>G (p.Lys299Glu)	SEMA3D (K299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529240	NM_001384900.1(SEMA3D):c.1366C>G (p.His456Asp)	SEMA3D (H456D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522989	NM_001384900.1(SEMA3D):c.39C>A (p.Ser13Arg)	SEMA3D (S13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512683	NM_001384900.1(SEMA3D):c.337C>T (p.Arg113Trp)	SEMA3D (R113W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2512535	NM_001384900.1(SEMA3D):c.1868A>C (p.Lys623Thr)	SEMA3D (K623T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2489099	NM_001384900.1(SEMA3D):c.34A>G (p.Arg12Gly)	SEMA3D (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488542	NM_001384900.1(SEMA3D):c.1603G>A (p.Asp535Asn)	SEMA3D (D535N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2484437	NM_001384900.1(SEMA3D):c.1965G>T (p.Leu655Phe)	LOC126860094, SEMA3D (L655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482390	NM_001384900.1(SEMA3D):c.995C>G (p.Pro332Arg)	SEMA3D (P332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477469	NM_001384900.1(SEMA3D):c.1720G>A (p.Asp574Asn)	SEMA3D (D574N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475328	NM_001384900.1(SEMA3D):c.1920T>G (p.Asp640Glu)	LOC126860094, SEMA3D (D640E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463998	NM_001384900.1(SEMA3D):c.953C>G (p.Ala318Gly)	SEMA3D (A318G)	Single nucleotide variant (missense variant)	SEMA3D-related disorder +1 more	GUncertain significance
Select item 2425807	NC_000007.13:g.(?_81331897)_(84751207_?)dup	HGF, CACNA2D1 +4 more	Duplication	CHARGE syndrome	GUncertain significance
Select item 2402007	NM_001384900.1(SEMA3D):c.698C>T (p.Ser233Leu)	SEMA3D (S233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389063	NM_001384900.1(SEMA3D):c.2323G>A (p.Val775Ile)	LOC126860094, SEMA3D (V775I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366973	NM_001384900.1(SEMA3D):c.113T>C (p.Leu38Ser)	SEMA3D (L38S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2359860	NM_001384900.1(SEMA3D):c.1315A>G (p.Thr439Ala)	SEMA3D (T439A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2339440	NM_001384900.1(SEMA3D):c.247C>T (p.Leu83Phe)	SEMA3D (L83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336189	NM_001384900.1(SEMA3D):c.107G>C (p.Gly36Ala)	SEMA3D (G36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311824	NM_001384900.1(SEMA3D):c.1848A>T (p.Lys616Asn)	SEMA3D (K616N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295455	NM_001384900.1(SEMA3D):c.1478T>C (p.Val493Ala)	SEMA3D (V493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292272	NM_001384900.1(SEMA3D):c.1975G>T (p.Asp659Tyr)	LOC126860094, SEMA3D (D659Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265337	NM_001384900.1(SEMA3D):c.1657G>T (p.Ala553Ser)	SEMA3D (A553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264015	NM_001384900.1(SEMA3D):c.1214C>T (p.Pro405Leu)	SEMA3D (P405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234970	NM_001384900.1(SEMA3D):c.1762G>A (p.Glu588Lys)	SEMA3D (E588K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209458	NM_001384900.1(SEMA3D):c.1444A>G (p.Ile482Val)	SEMA3D (I482V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1807895	GRCh37/hg19 7q21.11(chr7:84385313-85008623)x3	SEMA3D	Copy number gain	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 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1238650	NM_001384900.1(SEMA3D):c.193T>C (p.Ser65Pro)	SEMA3D (S65P)	Single nucleotide variant (missense variant)	SEMA3D-related disorder +1 more	GBenign
Select item 979627	GRCh37/hg19 7q21.11(chr7:83775974-84858778)x3	SEMA3A, SEMA3D	Copy number gain	not provided	GUncertain significance
Select item 791160	NM_001384900.1(SEMA3D):c.1332T>C (p.Asn444=)	SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder +1 more	GBenign
Select item 791159	NM_001384900.1(SEMA3D):c.1546-9G>A	SEMA3D	Single nucleotide variant (intron variant)	SEMA3D-related disorder +1 more	GBenign
Select item 790600	NM_001384900.1(SEMA3D):c.495+5T>C	SEMA3D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 790045	NM_001384900.1(SEMA3D):c.774T>C (p.Asp258=)	SEMA3D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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