ClinVar for MedGen (Select 339931) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2151300	NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)	SEMA4A (G32W)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 1879096	NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)	SEMA4A (S111N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 35 +2 more	GUncertain significance
Select item 1510361	NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser)	SEMA4A (P426S +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1503420	NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro)	SEMA4A (L174P +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +3 more	GUncertain significance
Select item 1447017	NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro)	SEMA4A (A83P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1417181	NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile)	SEMA4A (V132I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1409212	NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu)	SEMA4A (P532L +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +3 more	GUncertain significance
Select item 1079068	NM_022367.4(SEMA4A):c.426C>T (p.Cys142=)	SEMA4A	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 35 +2 more	GLikely benign
Select item 1054646	NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu)	SEMA4A (P393L +3 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 10 +2 more	GUncertain significance
Select item 1022883	NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly)	SEMA4A (D158G +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 10 +3 more	GUncertain significance
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 873620	NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp)	SEMA4A (R579W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 873571	NM_022367.4(SEMA4A):c.1434+12C>A	SEMA4A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 866935	NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs)	SEMA4A (E594fs +3 more)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 862983	NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile)	SEMA4A (V494I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 849640	NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met)	SEMA4A (T236M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 806247	NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile)	SEMA4A (T253I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 734107	NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln)	SEMA4A (R557Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 719457	NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val)	SEMA4A (A577V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 599331	NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser)	SEMA4A (G143S +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 35 +3 more	GUncertain significance
Select item 599330	NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)	SEMA4A (R494Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 596486	NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala)	SEMA4A (G484A +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +3 more	GUncertain significance
Select item 501000	NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu)	SEMA4A (M392L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 450025	NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln)	SEMA4A (H429Q +3 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 10 +2 more	GUncertain significance
Select item 444182	NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu)	SEMA4A (P315L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 292860	NM_022367.4(SEMA4A):c.*37T>C	SEMA4A	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +4 more	GBenign/Likely benign
Select item 292859	NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)	SEMA4A (A751T +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 292857	NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)	SEMA4A (R723C +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 292856	NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser)	SEMA4A (R723S +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 292852	NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val)	SEMA4A (A446V +3 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +4 more	GUncertain significance
Select item 292850	NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile)	SEMA4A (T365I +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +4 more	GUncertain significance
Select item 292847	NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu)	SEMA4A (S165L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 286515	NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser)	SEMA4A (P682S +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 261576	NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=)	SEMA4A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GBenign
Select item 194261	NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)	SEMA4A (R510Q +3 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 167673	NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val)	SEMA4A (D399V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 167672	NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp)	SEMA4A (R375W +3 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +4 more	GUncertain significance
Select item 3362	NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)	SEMA4A (R713Q +3 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 3361	NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)	SEMA4A (F350C +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +1 more	GPathogenic
Select item 3360	NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His)	SEMA4A (D345H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 42