ClinVar for Gene (Select 10507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3159814	NM_001371194.2(SEMA4D):c.268T>G (p.Ser90Ala)	SEMA4D (S90A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159813	NM_001371194.2(SEMA4D):c.221A>G (p.Asn74Ser)	SEMA4D (N74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3159808	NM_001371194.2(SEMA4D):c.169G>A (p.Glu57Lys)	SEMA4D (E57K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3159802	NM_001371194.2(SEMA4D):c.124T>C (p.Phe42Leu)	SEMA4D (F42L)	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 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 3067585	NM_001371194.2(SEMA4D):c.1575C>A (p.Pro525=)	SEMA4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
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 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 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 3059487	NM_001371194.2(SEMA4D):c.678C>T (p.Gly226=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
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 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 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 3056145	NM_001371194.2(SEMA4D):c.2484G>A (p.Thr828=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder	GBenign
Select item 3055397	NM_001371194.2(SEMA4D):c.214G>A (p.Ala72Thr)	SEMA4D (A72T)	Single nucleotide variant (missense variant +1 more)	SEMA4D-related disorder	GBenign
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 3053084	NM_001371194.2(SEMA4D):c.1594C>G (p.Leu532Val)	SEMA4D (L532V)	Single nucleotide variant (missense variant)	SEMA4D-related disorder	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 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 3049782	NM_001371194.2(SEMA4D):c.951-4C>G	SEMA4D	Single nucleotide variant (intron 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 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 3046589	NM_001371194.2(SEMA4D):c.253-3C>T	SEMA4D	Single nucleotide variant (intron variant)	SEMA4D-related disorder	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 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 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 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 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 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 3040940	NM_001371194.2(SEMA4D):c.1588G>A (p.Val530Met)	SEMA4D (V530M)	Single nucleotide variant (missense variant)	SEMA4D-related disorder	GLikely benign
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
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 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 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 2659297	NM_001371194.2(SEMA4D):c.891C>T (p.Phe297=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659296	NM_001371194.2(SEMA4D):c.1512G>A (p.Gly504=)	SEMA4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2610024	NM_001371194.2(SEMA4D):c.68C>T (p.Ala23Val)	SEMA4D (A23V)	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 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 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 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 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 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 2517880	NM_001371194.2(SEMA4D):c.62C>T (p.Ala21Val)	SEMA4D (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486439	NM_001371194.2(SEMA4D):c.281A>C (p.Lys94Thr)	SEMA4D (K94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485057	NM_001371194.2(SEMA4D):c.10T>G (p.Cys4Gly)	SEMA4D (C4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 2361530	NM_001371194.2(SEMA4D):c.223G>A (p.Ala75Thr)	SEMA4D (A75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 2287635	NM_001371194.2(SEMA4D):c.284C>G (p.Ala95Gly)	SEMA4D (A95G)	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 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 2268647	NM_001371194.2(SEMA4D):c.365C>G (p.Ser122Cys)	SEMA4D (S122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2243755	NM_001371194.2(SEMA4D):c.1597C>T (p.His533Tyr)	SEMA4D (H533Y)	Single nucleotide variant (missense variant)	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 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 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 2147762	NM_001371194.2(SEMA4D):c.244C>T (p.Gln82Ter)	SEMA4D (Q82*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707461	Single allele	CKS2, DIRAS2 +91 more	Duplication	not specified	GUncertain significance
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	DIRAS2, GADD45G +14 more	Copy number loss	See cases	GLikely pathogenic
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 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
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 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 792129	NM_001371194.2(SEMA4D):c.1330+9C>T	SEMA4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 741057	NM_001371194.2(SEMA4D):c.969G>A (p.Ser323=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	SEMA4D-related disorder +1 more	GBenign
Select item 710800	NM_001371194.2(SEMA4D):c.2376G>A (p.Thr792=)	SEMA4D	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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