ClinVar for Gene (Select 64218) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317313	NM_022367.4(SEMA4A):c.80C>G (p.Pro27Arg)	SEMA4A (P27R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317311	NM_022367.4(SEMA4A):c.875T>C (p.Leu292Pro)	SEMA4A (L193P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248017	NC_000001.10:g.(?_156130214)_(156132905_?)del	SEMA4A	Deletion	not provided	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3159763	NM_022367.4(SEMA4A):c.752C>A (p.Ala251Asp)	SEMA4A (A119D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159761	NM_022367.4(SEMA4A):c.1718A>G (p.Asn573Ser)	SEMA4A (N441S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159760	NM_022367.4(SEMA4A):c.1534C>A (p.Pro512Thr)	SEMA4A (P380T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3051241	NM_022367.4(SEMA4A):c.81G>A (p.Pro27=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	SEMA4A-related disorder	GLikely benign
Select item 3034117	NM_022367.4(SEMA4A):c.996G>A (p.Gly332=)	SEMA4A	Single nucleotide variant (synonymous variant)	SEMA4A-related disorder	GLikely benign
Select item 3028284	NM_022367.4(SEMA4A):c.2135C>T (p.Ala712Val)	SEMA4A (A543V +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028269	NM_022367.4(SEMA4A):c.1619G>C (p.Arg540Pro)	SEMA4A (R371P +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028261	NM_022367.4(SEMA4A):c.1433A>G (p.Gln478Arg)	SEMA4A (Q309R +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028253	NM_022367.4(SEMA4A):c.1377G>C (p.Glu459Asp)	SEMA4A (E290D +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028249	NM_022367.4(SEMA4A):c.1376A>G (p.Glu459Gly)	SEMA4A (E290G +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028245	NM_022367.4(SEMA4A):c.1374A>G (p.Glu458=)	SEMA4A	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028241	NM_022367.4(SEMA4A):c.1059A>C (p.Lys353Asn)	SEMA4A (K184N +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028236	NM_022367.4(SEMA4A):c.304C>T (p.Pro102Ser)	SEMA4A (P102S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028231	NM_022367.4(SEMA4A):c.274C>T (p.Pro92Ser)	SEMA4A (P92S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028226	NM_022367.4(SEMA4A):c.232G>A (p.Val78Met)	SEMA4A (V78M)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GBenign
Select item 3028221	NM_022367.4(SEMA4A):c.93G>T (p.Ala31=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GLikely benign
Select item 3011487	NM_022367.4(SEMA4A):c.810+7G>C	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011474	NM_022367.4(SEMA4A):c.1064A>G (p.Lys355Arg)	SEMA4A (K186R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009865	NM_022367.4(SEMA4A):c.1226T>A (p.Val409Glu)	SEMA4A (V409E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005775	NM_022367.4(SEMA4A):c.85dup (p.Thr29fs)	SEMA4A (T29fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3005404	NM_022367.4(SEMA4A):c.1281T>C (p.Asp427=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004876	NM_022367.4(SEMA4A):c.686-5C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003276	NM_022367.4(SEMA4A):c.1585C>G (p.Pro529Ala)	SEMA4A (P360A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993413	NM_022367.4(SEMA4A):c.2117C>T (p.Pro706Leu)	SEMA4A (P574L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993222	NM_022367.4(SEMA4A):c.2116C>A (p.Pro706Thr)	SEMA4A (P607T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989647	NM_022367.4(SEMA4A):c.200T>A (p.Leu67Gln)	SEMA4A (L67Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984584	NM_022367.4(SEMA4A):c.234G>A (p.Val78=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983185	NM_022367.4(SEMA4A):c.1353C>T (p.Asp451=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978093	NM_022367.4(SEMA4A):c.300+7_300+14del	SEMA4A	Deletion (intron variant)	not provided	GLikely benign
Select item 2975836	NM_022367.4(SEMA4A):c.1134+13C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973305	NM_022367.4(SEMA4A):c.461T>C (p.Ile154Thr)	SEMA4A (I55T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2968274	NM_022367.4(SEMA4A):c.386G>A (p.Arg129His)	SEMA4A (R30H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2958438	NM_022367.4(SEMA4A):c.810+11T>C	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956954	NM_022367.4(SEMA4A):c.699T>C (p.Phe233=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903079	NM_022367.4(SEMA4A):c.261G>A (p.Leu87=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873820	NM_022367.4(SEMA4A):c.1135-13CCT[2]	SEMA4A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2873625	NM_022367.4(SEMA4A):c.300+1G>T	SEMA4A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2872052	NM_022367.4(SEMA4A):c.1292A>G (p.His431Arg)	SEMA4A (H332R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868556	NM_022367.4(SEMA4A):c.685+16C>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865880	NM_022367.4(SEMA4A):c.1134+8C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865066	NM_022367.4(SEMA4A):c.1890C>T (p.Gly630=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864498	NM_022367.4(SEMA4A):c.1314C>A (p.Thr438=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2863742	NM_022367.4(SEMA4A):c.306G>A (p.Pro102=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863283	NM_022367.4(SEMA4A):c.1061A>C (p.Tyr354Ser)	SEMA4A (Y185S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859243	NM_022367.4(SEMA4A):c.139+5G>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2857023	NM_022367.4(SEMA4A):c.1871G>T (p.Cys624Phe)	SEMA4A (C492F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841634	NM_022367.4(SEMA4A):c.1794C>A (p.Val598=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838922	NM_022367.4(SEMA4A):c.300+16A>G	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829167	NM_022367.4(SEMA4A):c.660C>G (p.Thr220=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822636	NM_022367.4(SEMA4A):c.1182C>G (p.Asp394Glu)	SEMA4A (D225E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818761	NM_022367.4(SEMA4A):c.287G>A (p.Arg96Lys)	SEMA4A (R96K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816971	NM_022367.4(SEMA4A):c.2028_2037del (p.Gln677fs)	SEMA4A (Q508fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2805380	NM_022367.4(SEMA4A):c.984-18C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805246	NM_022367.4(SEMA4A):c.703G>T (p.Ala235Ser)	SEMA4A (A235S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805087	NM_022367.4(SEMA4A):c.226C>T (p.Leu76Phe)	SEMA4A (L76F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801196	NM_022367.4(SEMA4A):c.2150A>G (p.Gln717Arg)	SEMA4A (Q618R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800425	NM_022367.4(SEMA4A):c.140-17T>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799465	NM_022367.4(SEMA4A):c.1962A>C (p.Ala654=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798236	NM_022367.4(SEMA4A):c.974C>T (p.Thr325Ile)	SEMA4A (T226I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792479	NM_022367.4(SEMA4A):c.1069T>C (p.Leu357=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785453	NM_022367.4(SEMA4A):c.151A>T (p.Arg51Trp)	SEMA4A (R51W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785267	NM_022367.4(SEMA4A):c.1531G>A (p.Asp511Asn)	SEMA4A (D342N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784855	NM_022367.4(SEMA4A):c.742G>A (p.Glu248Lys)	SEMA4A (E149K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783561	NM_022367.4(SEMA4A):c.1872C>T (p.Cys624=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781513	NM_022367.4(SEMA4A):c.270G>A (p.Gln90=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781169	NM_022367.4(SEMA4A):c.1632G>A (p.Glu544=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770869	NM_022367.4(SEMA4A):c.1203A>G (p.Gln401=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769136	NM_022367.4(SEMA4A):c.265A>G (p.Ile89Val)	SEMA4A (I89V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2768065	NM_022367.4(SEMA4A):c.870G>A (p.Gln290=)	SEMA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754725	NM_022367.4(SEMA4A):c.1843C>A (p.Gln615Lys)	SEMA4A (Q516K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744598	NM_022367.4(SEMA4A):c.2141G>A (p.Gly714Asp)	SEMA4A (G582D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729207	NM_022367.4(SEMA4A):c.185A>G (p.Gln62Arg)	SEMA4A (Q62R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715589	NM_022367.4(SEMA4A):c.1736C>T (p.Pro579Leu)	SEMA4A (P447L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2639449	NM_022367.4(SEMA4A):c.1647T>G (p.Ser549Arg)	SEMA4A (S380R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2552950	NM_022367.4(SEMA4A):c.1526C>T (p.Ala509Val)	SEMA4A (A340V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542553	NM_022367.4(SEMA4A):c.500A>T (p.Asp167Val)	SEMA4A (D35V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519084	NM_022367.4(SEMA4A):c.731A>G (p.Tyr244Cys)	SEMA4A (Y244C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500821	NM_022367.4(SEMA4A):c.1064_1065del (p.Lys355fs)	SEMA4A (K186fs +3 more)	Deletion (frameshift variant)	Retinitis pigmentosa 35	GUncertain significance
Select item 2495620	NM_022367.4(SEMA4A):c.323G>C (p.Arg108Thr)	SEMA4A (R108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487675	NM_022367.4(SEMA4A):c.1271A>G (p.Gln424Arg)	SEMA4A (Q255R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442000	NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter)	SEMA4A (C100* +3 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 35	GUncertain significance
Select item 2426742	NC_000001.10:g.(?_156130214)_(156132905_?)dup	SEMA4A	Duplication	not provided	GUncertain significance
Select item 2426741	NC_000001.10:g.(?_156142597)_(156146788_?)dup	SEMA4A	Duplication	not provided	GUncertain significance
Select item 2330978	NM_022367.4(SEMA4A):c.1004G>A (p.Ser335Asn)	SEMA4A (S236N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306003	NM_022367.4(SEMA4A):c.1747C>G (p.Leu583Val)	SEMA4A (L414V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288778	NM_022367.4(SEMA4A):c.1144G>A (p.Gly382Ser)	SEMA4A (G250S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281572	NM_022367.4(SEMA4A):c.1168A>G (p.Thr390Ala)	SEMA4A (T390A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2266076	NM_022367.4(SEMA4A):c.1488C>A (p.Asn496Lys)	SEMA4A (N327K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202507	NM_022367.4(SEMA4A):c.1141G>C (p.Val381Leu)	SEMA4A (V212L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185018	NM_022367.4(SEMA4A):c.2201A>G (p.Gln734Arg)	SEMA4A (Q602R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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