SEMA4D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 1707461	Single allele	CKS2, DIRAS2 +91 more	Duplication	not specified	GUncertain significance
Select item 3060820	NM_001142287.2(SEMA4D):c.2138G>A (p.Arg713Lys)	SECISBP2, SEMA4D (R658K +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 1317919	NM_001371202.1(SEMA4D):c.1883-64C>T	SECISBP2, SEMA4D (L662F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3060340	NM_001142287.2(SEMA4D):c.1965C>T (p.Pro655=)	SECISBP2, SEMA4D	Single nucleotide variant (synonymous variant +2 more)	SEMA4D-related disorder	GBenign
Select item 3049327	NM_001142287.2(SEMA4D):c.1777G>T (p.Gly593Trp)	SEMA4D (G593W)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3041927	NM_001142287.2(SEMA4D):c.1763C>T (p.Pro588Leu)	SEMA4D (P588L)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 3039346	NM_001371194.2(SEMA4D):c.*4C>T	SEMA4D	Single nucleotide variant (3 prime UTR variant +1 more)	SEMA4D-related disorder	GBenign
Select item 2620389	NM_001371194.2(SEMA4D):c.2533C>G (p.Pro845Ala)	SEMA4D (P845A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286803	NM_001371194.2(SEMA4D):c.2512G>A (p.Asp838Asn)	SEMA4D (D838N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056145	NM_001371194.2(SEMA4D):c.2484G>A (p.Thr828=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
Select item 2315790	NM_001371194.2(SEMA4D):c.2452G>A (p.Glu818Lys)	SEMA4D (E818K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042521	NM_001371194.2(SEMA4D):c.2400C>T (p.Ser800=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 2541025	NM_001371194.2(SEMA4D):c.2395T>C (p.Phe799Leu)	SEMA4D (F799L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317455	NM_001371194.2(SEMA4D):c.2378T>C (p.Leu793Ser)	SEMA4D (L793S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710800	NM_001371194.2(SEMA4D):c.2376G>A (p.Thr792=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2382988	NM_001371194.2(SEMA4D):c.2375C>T (p.Thr792Met)	SEMA4D (T792M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305990	NM_001371194.2(SEMA4D):c.2362A>G (p.Ser788Gly)	SEMA4D (S788G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319224	NM_001371194.2(SEMA4D):c.2354G>A (p.Arg785His)	SEMA4D (R785H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204128	NM_001371194.2(SEMA4D):c.2353C>T (p.Arg785Cys)	SEMA4D (R785C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3045892	NM_001371194.2(SEMA4D):c.2205C>T (p.Leu735=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 2411287	NM_001371194.2(SEMA4D):c.2201G>A (p.Arg734His)	SEMA4D (R734H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044594	NM_001371194.2(SEMA4D):c.2182C>T (p.Leu728Phe)	SEMA4D (L728F)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3317336	NM_001371194.2(SEMA4D):c.2147C>T (p.Thr716Met)	SEMA4D (T716M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056239	NM_001371194.2(SEMA4D):c.2107C>T (p.Pro703Ser)	SEMA4D (P703S)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3159812	NM_001371194.2(SEMA4D):c.2059G>T (p.Val687Leu)	SEMA4D (V687L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232320	NM_001371194.2(SEMA4D):c.2059G>A (p.Val687Met)	SEMA4D (V687M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233373	NM_001371194.2(SEMA4D):c.2051C>T (p.Thr684Ile)	SEMA4D (T684I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159811	NM_001371194.2(SEMA4D):c.2050A>G (p.Thr684Ala)	SEMA4D (T684A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564665	NM_001371194.2(SEMA4D):c.2009C>T (p.Thr670Ile)	SEMA4D (T670I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159810	NM_001371194.2(SEMA4D):c.1970C>A (p.Thr657Asn)	SEMA4D (T657N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317335	NM_001371194.2(SEMA4D):c.1964C>T (p.Ala655Val)	SEMA4D (A655V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369207	NM_001371194.2(SEMA4D):c.1934A>G (p.Glu645Gly)	SEMA4D (E645G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159809	NM_001371194.2(SEMA4D):c.1857T>G (p.Ser619Arg)	SEMA4D (S619R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056725	NM_001371194.2(SEMA4D):c.1775G>A (p.Gly592Asp)	SEMA4D (G592D)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3025537	NM_001371194.2(SEMA4D):c.1751G>A (p.Arg584Gln)	SEMA4D (R584Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3042133	NM_001371194.2(SEMA4D):c.1684C>T (p.Arg562Trp)	SEMA4D (R562W)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 2261245	NM_001371194.2(SEMA4D):c.1612C>T (p.Pro538Ser)	SEMA4D (P538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243755	NM_001371194.2(SEMA4D):c.1597C>T (p.His533Tyr)	SEMA4D (H533Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053084	NM_001371194.2(SEMA4D):c.1594C>G (p.Leu532Val)	SEMA4D (L532V)	Single nucleotide variant (missense variant)	SEMA4D-related disorder	GBenign
Select item 3040940	NM_001371194.2(SEMA4D):c.1588G>A (p.Val530Met)	SEMA4D (V530M)	Single nucleotide variant (missense variant)	SEMA4D-related disorder	GLikely benign
Select item 3049570	NM_001371194.2(SEMA4D):c.1581G>A (p.Ala527=)	SEMA4D	Single nucleotide variant (synonymous variant)	SEMA4D-related disorder	GBenign
Select item 3067585	NM_001371194.2(SEMA4D):c.1575C>A (p.Pro525=)	SEMA4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159807	NM_001371194.2(SEMA4D):c.1571C>T (p.Pro524Leu)	SEMA4D (P524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659296	NM_001371194.2(SEMA4D):c.1512G>A (p.Gly504=)	SEMA4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159806	NM_001371194.2(SEMA4D):c.1496C>T (p.Pro499Leu)	SEMA4D (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159805	NM_001371194.2(SEMA4D):c.1458T>G (p.Phe486Leu)	SEMA4D (F486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317334	NM_001371194.2(SEMA4D):c.1453A>G (p.Arg485Gly)	SEMA4D (R485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034744	NM_001371194.2(SEMA4D):c.1425C>T (p.Thr475=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 2518404	NM_001371194.2(SEMA4D):c.1412A>G (p.Glu471Gly)	SEMA4D (E471G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159804	NM_001371194.2(SEMA4D):c.1408T>C (p.Phe470Leu)	SEMA4D (F470L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159803	NM_001371194.2(SEMA4D):c.1369G>A (p.Ala457Thr)	SEMA4D (A457T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792129	NM_001371194.2(SEMA4D):c.1330+9C>T	SEMA4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051941	NM_001371194.2(SEMA4D):c.1275G>A (p.Val425=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 2354424	NM_001371194.2(SEMA4D):c.1270G>A (p.Val424Met)	SEMA4D (V424M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391502	NM_001371194.2(SEMA4D):c.1250A>T (p.Asp417Val)	SEMA4D (D417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159801	NM_001371194.2(SEMA4D):c.1216C>A (p.Pro406Thr)	SEMA4D (P406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159800	NM_001371194.2(SEMA4D):c.1169C>T (p.Thr390Met)	SEMA4D (T390M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374783	NM_001371194.2(SEMA4D):c.1126C>T (p.Arg376Trp)	SEMA4D (R376W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317337	NM_001371194.2(SEMA4D):c.1096C>T (p.Arg366Trp)	SEMA4D (R366W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244826	NM_001371194.2(SEMA4D):c.1094C>T (p.Pro365Leu)	SEMA4D (P365L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159799	NM_001371194.2(SEMA4D):c.1092G>T (p.Lys364Asn)	SEMA4D (K364N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 587560	NM_001371194.2(SEMA4D):c.1070G>A (p.Arg357His)	SEMA4D (R357H)	Single nucleotide variant (missense variant +1 more)	Anti-SEMA4D Monoclonal Antibody VX15/2503	GUncertain significance
Select item 3351698	NM_001371194.2(SEMA4D):c.1020G>C (p.Gly340=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 776430	NM_001371194.2(SEMA4D):c.1005G>C (p.Glu335Asp)	SEMA4D (E335D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3060636	NM_001371194.2(SEMA4D):c.979G>A (p.Ala327Thr)	SEMA4D (A327T)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 741057	NM_001371194.2(SEMA4D):c.969G>A (p.Ser323=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2274154	NM_001371194.2(SEMA4D):c.958G>A (p.Val320Met)	SEMA4D (V320M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049782	NM_001371194.2(SEMA4D):c.951-4C>G	SEMA4D	Single nucleotide variant (intron variant)	SEMA4D-related disorder	GLikely benign
Select item 3159818	NM_001371194.2(SEMA4D):c.944C>T (p.Pro315Leu)	SEMA4D (P315L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317340	NM_001371194.2(SEMA4D):c.941C>A (p.Thr314Asn)	SEMA4D (T314N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159817	NM_001371194.2(SEMA4D):c.937T>C (p.Phe313Leu)	SEMA4D (F313L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659297	NM_001371194.2(SEMA4D):c.891C>T (p.Phe297=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2333462	NM_001371194.2(SEMA4D):c.797C>T (p.Thr266Ile)	SEMA4D (T266I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317339	NM_001371194.2(SEMA4D):c.788G>A (p.Gly263Asp)	SEMA4D (G263D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609467	NM_001371194.2(SEMA4D):c.781C>G (p.Gln261Glu)	SEMA4D (Q261E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541263	NM_001371194.2(SEMA4D):c.746T>A (p.Leu249Gln)	SEMA4D (L249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051466	NM_001371194.2(SEMA4D):c.742G>T (p.Val248Leu)	SEMA4D (V248L)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3059487	NM_001371194.2(SEMA4D):c.678C>T (p.Gly226=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
Select item 2519351	NM_001371194.2(SEMA4D):c.673G>A (p.Asp225Asn)	SEMA4D (D225N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056800	NM_001371194.2(SEMA4D):c.672C>T (p.Pro224=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3159816	NM_001371194.2(SEMA4D):c.653G>A (p.Arg218Gln)	SEMA4D (R218Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 930639	NM_001371194.2(SEMA4D):c.652C>T (p.Arg218Ter)	SEMA4D (R218*)	Single nucleotide variant (nonsense +1 more)	See cases	GUncertain significance
Select item 3053809	NM_001371194.2(SEMA4D):c.645C>T (p.Asp215=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3045358	NM_001371194.2(SEMA4D):c.609C>T (p.Ile203=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign
Select item 3159815	NM_001371194.2(SEMA4D):c.583A>G (p.Ser195Gly)	SEMA4D (S195G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040735	NM_001371194.2(SEMA4D):c.510T>C (p.Asp170=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GLikely benign

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