ClinVar for MedGen (Select 339931) - ClinVar

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Items: 42

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25008211.	NM_022367.4(SEMA4A):c.1064_1065del (p.Lys355fs) GRCh37: Chr1:156132814-156132815 GRCh38: Chr1:156163023-156163024	SEMA4A	K186fs, K223fs, K256fs, K355fs	Retinitis pigmentosa 35	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 24420002.	NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter) GRCh37: Chr1:156130817 GRCh38: Chr1:156161026	SEMA4A	C100, C137, C170, C269	Retinitis pigmentosa 35	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 21513003.	NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp) GRCh37: Chr1:156124463 GRCh38: Chr1:156154672	SEMA4A	G32W	Inborn genetic diseases, Cone-rod dystrophy 10, not provided, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18790964.	NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn) GRCh37: Chr1:156127892 GRCh38: Chr1:156158101	SEMA4A	S111N, S12N	not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15103615.	NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) GRCh37: Chr1:156146285 GRCh38: Chr1:156176494	SEMA4A	P426S, P595S, P463S, P496S	not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35, Inborn genetic diseases	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15034206.	NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) GRCh37: Chr1:156132779 GRCh38: Chr1:156162988	SEMA4A	L174P, L211P, L343P, L244P	Inborn genetic diseases, Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14470177.	NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) GRCh37: Chr1:156126312 GRCh38: Chr1:156156521	SEMA4A	A83P	Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided, Inborn genetic diseases	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14171818.	NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile) GRCh37: Chr1:156128209 GRCh38: Chr1:156158418	SEMA4A	V132I, V33I	Retinitis pigmentosa 35, Inborn genetic diseases, not provided, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14092129.	NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu) GRCh37: Chr1:156146493 GRCh38: Chr1:156176702	SEMA4A	P532L, P664L, P495L, P565L	Inborn genetic diseases, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107906810.	NM_022367.4(SEMA4A):c.426C>T (p.Cys142=) GRCh37: Chr1:156128241 GRCh38: Chr1:156158450	SEMA4A		Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105464611.	NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) GRCh37: Chr1:156145439 GRCh38: Chr1:156175648	SEMA4A	P393L, P430L, P463L, P562L	not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102288312.	NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) GRCh37: Chr1:156128520 GRCh38: Chr1:156158729	SEMA4A	D158G, D26G, D59G	not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10, Inborn genetic diseases	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100095513.	NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) GRCh37: Chr1:156124455 GRCh38: Chr1:156154664	SEMA4A	T29M	Inborn genetic diseases, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87362014.	NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) GRCh37: Chr1:156146633 GRCh38: Chr1:156176842	SEMA4A	R579W, R542W, R711W, R612W	not provided, Retinitis pigmentosa, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87357115.	NM_022367.4(SEMA4A):c.1434+12C>A GRCh37: Chr1:156144743 GRCh38: Chr1:156174952	SEMA4A		not provided, Retinitis pigmentosa, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86693516.	NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) GRCh37: Chr1:156146674-156146675 GRCh38: Chr1:156176883-156176884	SEMA4A	E594fs, E627fs, E557fs, E726fs	Retinal dystrophy, not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86298317.	NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) GRCh37: Chr1:156146489 GRCh38: Chr1:156176698	SEMA4A	V494I, V531I, V663I, V564I	Inborn genetic diseases, not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84964018.	NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) GRCh37: Chr1:156142696 GRCh38: Chr1:156172905	SEMA4A	T236M, T273M, T405M, T306M	Retinitis pigmentosa 35, not provided, Inborn genetic diseases, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80624719.	NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile) GRCh37: Chr1:156142747 GRCh38: Chr1:156172956	SEMA4A	T253I, T290I, T323I, T422I	not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73410720.	NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln) GRCh37: Chr1:156145424 GRCh38: Chr1:156175633	SEMA4A	R557Q, R388Q, R458Q, R425Q	Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 71945721.	NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) GRCh37: Chr1:156146529 GRCh38: Chr1:156176738	SEMA4A	A577V, A544V, A676V, A507V	not provided, Retinitis pigmentosa, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59933122.	NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) GRCh37: Chr1:156128242 GRCh38: Chr1:156158451	SEMA4A	G143S, G44S	not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35, Polyp of colon	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59933023.	NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) GRCh37: Chr1:156144923 GRCh38: Chr1:156175132	SEMA4A	R494Q, R395Q, R325Q, R362Q	Colorectal cancer, not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59648624.	NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) GRCh37: Chr1:156144893 GRCh38: Chr1:156175102	SEMA4A	G484A, G315A, G352A, G385A	Retinitis pigmentosa, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50100025.	NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu) GRCh37: Chr1:156142656 GRCh38: Chr1:156172865	SEMA4A	M392L, M223L, M260L, M293L	not provided, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45002526.	NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln) GRCh37: Chr1:156142769 GRCh38: Chr1:156172978	SEMA4A	H429Q, H260Q, H297Q, H330Q	Cone-rod dystrophy 10, Retinitis pigmentosa 35, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44418227.	NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) GRCh37: Chr1:156131270 GRCh38: Chr1:156161479	SEMA4A	P315L, P183L, P146L, P216L	not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29286028.	NM_022367.4(SEMA4A):c.*37T>C GRCh37: Chr1:156146825 GRCh38: Chr1:156177034	SEMA4A		Retinitis pigmentosa, not provided, Retinitis Pigmentosa, Recessive, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29285929.	NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) GRCh37: Chr1:156146753 GRCh38: Chr1:156176962	SEMA4A	A751T, A652T, A582T, A619T	Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Cone-rod dystrophy 10, Retinitis pigmentosa 35, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29285730.	NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) GRCh37: Chr1:156146669 GRCh38: Chr1:156176878	SEMA4A	R723C, R554C, R624C, R591C	not provided, Retinitis pigmentosa 35, not specified, Cone-rod dystrophy 10, Retinitis pigmentosa 35, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Cone-rod dystrophy 10	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29285631.	NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) GRCh37: Chr1:156146669 GRCh38: Chr1:156176878	SEMA4A	R723S, R554S, R624S, R591S	Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Cone-rod dystrophy 10, Retinitis pigmentosa 35, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29285232.	NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) GRCh37: Chr1:156144634 GRCh38: Chr1:156174843	SEMA4A	A446V, A277V, A314V, A347V	Retinitis pigmentosa, not provided, Retinitis Pigmentosa, Recessive, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29285033.	NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) GRCh37: Chr1:156132845 GRCh38: Chr1:156163054	SEMA4A	T365I, T266I, T196I, T233I	Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, Cone-rod dystrophy 10, Retinitis pigmentosa 35, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29284734.	NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) GRCh37: Chr1:156128541 GRCh38: Chr1:156158750	SEMA4A	S165L, S66L, S33L	not provided, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Cone-rod dystrophy 10, Retinitis pigmentosa 35	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28651535.	NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) GRCh37: Chr1:156146546 GRCh38: Chr1:156176755	SEMA4A	P682S, P513S, P550S, P583S	not specified, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10, Retinitis pigmentosa	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26157636.	NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) GRCh37: Chr1:156146218 GRCh38: Chr1:156176427	SEMA4A		not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, not specified	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19426137.	NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) GRCh37: Chr1:156144971 GRCh38: Chr1:156175180	SEMA4A	R510Q, R411Q, R341Q, R378Q	Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, not specified, not provided, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16767338.	NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val) GRCh37: Chr1:156142678 GRCh38: Chr1:156172887	SEMA4A	D399V, D230V, D267V, D300V	Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16767239.	NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) GRCh37: Chr1:156132874 GRCh38: Chr1:156163083	SEMA4A	R375W, R206W, R243W, R276W	Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Retinitis pigmentosa 35, Cone-rod dystrophy 10, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 336240.	NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) GRCh37: Chr1:156146640 GRCh38: Chr1:156176849	SEMA4A	R713Q, R544Q, R581Q, R614Q	Retinitis Pigmentosa, Recessive, not provided, not specified, Retinitis pigmentosa, Retinitis pigmentosa 35, Cone-rod dystrophy 10	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 336141.	NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys) GRCh37: Chr1:156132800 GRCh38: Chr1:156163009	SEMA4A	F350C, F218C, F251C, F181C	Retinitis pigmentosa 35, Cone-rod dystrophy 10	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 336042.	NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His) GRCh37: Chr1:156132784 GRCh38: Chr1:156162993	SEMA4A	D345H, D176H, D213H, D246H	not provided	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter

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Items: 42