SEMA4A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 665025	NC_000001.11:g.(?_156114919)_(156243162_?)del	BGLAP, LMNA +23 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 368834	NM_001193300.2(SEMA4A):c.-254-12C>T	SEMA4A	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +1 more	GUncertain significance
Select item 292841	NM_022367.4(SEMA4A):c.-165G>A	SEMA4A	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 292842	NM_022367.4(SEMA4A):c.-64A>G	SEMA4A	Single nucleotide variant (5 prime UTR variant +1 more)	Cone-rod dystrophy 10 +2 more	GUncertain significance
Select item 2115352	NM_022367.4(SEMA4A):c.2T>A (p.Met1Lys)	SEMA4A (M1K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 955649	NM_022367.4(SEMA4A):c.11C>T (p.Pro4Leu)	SEMA4A (P4L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 954000	NM_022367.4(SEMA4A):c.14C>G (p.Ala5Gly)	SEMA4A (A5G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 767708	NM_022367.4(SEMA4A):c.20G>A (p.Gly7Asp)	SEMA4A (G7D)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 10 +2 more	GConflicting classifications of pathogenicity
Select item 1523345	NM_022367.4(SEMA4A):c.34A>T (p.Ser12Cys)	LOC129931603, SEMA4A (S12C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1370959	NM_022367.4(SEMA4A):c.38T>C (p.Leu13Pro)	LOC129931603, SEMA4A (L13P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1720220	NM_022367.4(SEMA4A):c.43G>T (p.Gly15Cys)	LOC129931603, SEMA4A (G15C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1140776	NM_022367.4(SEMA4A):c.45C>T (p.Gly15=)	LOC129931603, SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2095696	NM_022367.4(SEMA4A):c.61C>T (p.Leu21=)	LOC129931603, SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1487914	NM_022367.4(SEMA4A):c.76C>A (p.Leu26Met)	SEMA4A (L26M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1394287	NM_022367.4(SEMA4A):c.79_81dup (p.Pro27dup)	SEMA4A	Duplication (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 857841	NM_022367.4(SEMA4A):c.77T>C (p.Leu26Pro)	SEMA4A (L26P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1936583	NM_022367.4(SEMA4A):c.79C>T (p.Pro27Ser)	SEMA4A (P27S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1522316	NM_022367.4(SEMA4A):c.81GAC[2] (p.Thr30del)	SEMA4A (T30del)	Microsatellite (intron variant +2 more)	not provided	GUncertain significance
Select item 1051004	NM_022367.4(SEMA4A):c.80C>T (p.Pro27Leu)	SEMA4A (P27L)	Single nucleotide variant (missense variant +2 more)	not provided	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 1441368	NM_022367.4(SEMA4A):c.83C>T (p.Thr28Met)	SEMA4A (T28M)	Single nucleotide variant (missense variant +2 more)	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 195371	NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 1000955	NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met)	SEMA4A (T29M)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 35 +3 more	GUncertain significance
Select item 1963123	NM_022367.4(SEMA4A):c.87G>A (p.Thr29=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1958724	NM_022367.4(SEMA4A):c.89C>A (p.Thr30Asn)	SEMA4A (T30N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 292843	NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1476141	NM_022367.4(SEMA4A):c.91G>A (p.Ala31Thr)	SEMA4A (A31T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1931382	NM_022367.4(SEMA4A):c.92C>T (p.Ala31Val)	SEMA4A (A31V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2151300	NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)	SEMA4A (G32W)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1478254	NM_022367.4(SEMA4A):c.94_95delinsTT (p.Gly32Leu)	SEMA4A (G32L)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 933666	NM_022367.4(SEMA4A):c.95G>C (p.Gly32Ala)	SEMA4A (G32A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 292844	NM_022367.4(SEMA4A):c.95G>T (p.Gly32Val)	SEMA4A (G32V)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 1077497	NM_022367.4(SEMA4A):c.96G>A (p.Gly32=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1387883	NM_022367.4(SEMA4A):c.97G>A (p.Gly33Arg)	SEMA4A (G33R)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1009849	NM_022367.4(SEMA4A):c.98G>A (p.Gly33Glu)	SEMA4A (G33E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1134120	NM_022367.4(SEMA4A):c.99A>T (p.Gly33=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1097914	NM_022367.4(SEMA4A):c.99A>G (p.Gly33=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1057138	NM_022367.4(SEMA4A):c.102C>T (p.Gly34=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1022782	NM_022367.4(SEMA4A):c.103G>A (p.Gly35Arg)	SEMA4A (G35R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1931980	NM_022367.4(SEMA4A):c.106C>A (p.Gln36Lys)	SEMA4A (Q36K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1349315	NM_022367.4(SEMA4A):c.115A>G (p.Met39Val)	SEMA4A (M39V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 751478	NM_022367.4(SEMA4A):c.116T>A (p.Met39Lys)	SEMA4A (M39K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2076685	NM_022367.4(SEMA4A):c.120C>T (p.Pro40=)	SEMA4A	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1955193	NM_022367.4(SEMA4A):c.127A>G (p.Arg43Gly)	SEMA4A (R43G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1021226	NM_022367.4(SEMA4A):c.134A>G (p.Tyr45Cys)	SEMA4A (Y45C)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1950848	NM_022367.4(SEMA4A):c.139+2T>C	SEMA4A	Single nucleotide variant (splice donor variant +1 more)	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 2130090	NM_022367.4(SEMA4A):c.139+10C>G	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962859	NM_022367.4(SEMA4A):c.139+10C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108820	NM_022367.4(SEMA4A):c.139+11G>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668212	NM_022367.4(SEMA4A):c.139+13C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946299	NM_022367.4(SEMA4A):c.140-18G>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800425	NM_022367.4(SEMA4A):c.140-17T>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104380	NM_022367.4(SEMA4A):c.142G>A (p.Asp48Asn)	SEMA4A (D48N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932976	NM_022367.4(SEMA4A):c.149G>A (p.Arg50His)	SEMA4A (R50H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1929313	NM_022367.4(SEMA4A):c.149G>T (p.Arg50Leu)	SEMA4A (R50L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1582980	NM_022367.4(SEMA4A):c.153G>A (p.Arg51=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562056	NM_022367.4(SEMA4A):c.159T>C (p.Leu53=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391486	NM_022367.4(SEMA4A):c.163T>G (p.Phe55Val)	SEMA4A (F55V)	Single nucleotide variant (missense variant +1 more)	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 1047511	NM_022367.4(SEMA4A):c.187G>A (p.Asp63Asn)	SEMA4A (D63N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011600	NM_022367.4(SEMA4A):c.196A>C (p.Thr66Pro)	SEMA4A (T66P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 951711	NM_022367.4(SEMA4A):c.208A>G (p.Ser70Gly)	SEMA4A (S70G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175913	NM_022367.4(SEMA4A):c.212G>A (p.Gly71Asp)	SEMA4A (G71D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 730955	NM_022367.4(SEMA4A):c.224C>G (p.Thr75Ser)	SEMA4A (T75S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 1090903	NM_022367.4(SEMA4A):c.231C>T (p.Tyr77=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2984584	NM_022367.4(SEMA4A):c.234G>A (p.Val78=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2104743	NM_022367.4(SEMA4A):c.234G>T (p.Val78=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130052	NM_022367.4(SEMA4A):c.238G>C (p.Ala80Pro)	SEMA4A (A80P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403075	NM_022367.4(SEMA4A):c.241C>T (p.Arg81Ter)	SEMA4A (R81*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1022896	NM_022367.4(SEMA4A):c.242G>A (p.Arg81Gln)	SEMA4A (R81Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447017	NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro)	SEMA4A (A83P)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 10 +3 more	GUncertain significance
Select item 2016082	NM_022367.4(SEMA4A):c.256G>A (p.Ala86Thr)	SEMA4A (A86T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1644506	NM_022367.4(SEMA4A):c.258C>T (p.Ala86=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	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 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 2781513	NM_022367.4(SEMA4A):c.270G>A (p.Gln90=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1508934	NM_022367.4(SEMA4A):c.283C>G (p.Pro95Ala)	SEMA4A (P95A)	Single nucleotide variant (missense variant +1 more)	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 1640662	NM_022367.4(SEMA4A):c.291A>C (p.Leu97=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121567	NM_022367.4(SEMA4A):c.297C>T (p.Asn99=)	SEMA4A	Single nucleotide variant (synonymous variant +1 more)	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 2978093	NM_022367.4(SEMA4A):c.300+7_300+14del	SEMA4A	Deletion (intron variant)	not provided	GLikely benign
Select item 1954048	NM_022367.4(SEMA4A):c.300+8G>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105484	NM_022367.4(SEMA4A):c.300+15G>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2838922	NM_022367.4(SEMA4A):c.300+16A>G	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670537	NM_022367.4(SEMA4A):c.300+20A>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205542	NM_022367.4(SEMA4A):c.300+49C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326600	NM_022367.4(SEMA4A):c.301-24G>A	SEMA4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661167	NM_022367.4(SEMA4A):c.301-17C>T	SEMA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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