"Natera, Inc."[submitter] AND "RAPSN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990458	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	RAPSN (M348I +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 990459	NM_005055.5(RAPSN):c.1208G>A (p.Arg403His)	RAPSN (R344H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 285425	NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	RAPSN	Single nucleotide variant (synonymous variant)	RAPSN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 771638	NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	RAPSN (R338Q +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 476118	NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)	RAPSN (R397W +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 969203	NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)	RAPSN (G395R +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 476117	NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)	RAPSN (N394S +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 659635	NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)	RAPSN (N394H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 545747	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	RAPSN (N393fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 130089	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +4 more	GBenign
Select item 574114	NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)	RAPSN (R376Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 542735	NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)	RAPSN (R376W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 990460	NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 190252	NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)	RAPSN (Y362fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1018672	NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)	RAPSN (L302V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1008321	NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)	RAPSN (T300M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 304970	NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	RAPSN (V356M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +4 more	GUncertain significance
Select item 990461	NM_005055.5(RAPSN):c.1059C>T (p.His353=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 259623	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 542734	NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)	RAPSN (R346W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 542732	NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)	RAPSN (R343Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 858566	NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)	RAPSN (R278H +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 542733	NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)	RAPSN (R337C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 850289	NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)	RAPSN (E274Q +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 664620	NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	RAPSN (E333* +1 more)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic
Select item 990462	NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)	RAPSN (S273R +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 990463	NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	RAPSN (H270Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 793165	NM_005055.5(RAPSN):c.975G>A (p.Gln325=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 846936	NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)	RAPSN (E317K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 704749	NM_005055.5(RAPSN):c.948C>T (p.Ala316=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 304972	NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	RAPSN (E310K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 575002	NM_005055.5(RAPSN):c.919G>C (p.Asp307His)	RAPSN (D307H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 879239	NM_005055.5(RAPSN):c.912+9G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 745534	NM_005055.5(RAPSN):c.912+8C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 288000	NM_005055.5(RAPSN):c.903G>A (p.Ala301=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 542737	NM_005055.5(RAPSN):c.889G>A (p.Val297Met)	RAPSN (V297M)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +3 more	GUncertain significance
Select item 723640	NM_005055.5(RAPSN):c.864G>A (p.Ala288=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 964986	NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)	RAPSN (A288V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 130092	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 11 +4 more	GBenign
Select item 990464	NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	RAPSN (L283V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 641067	NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)	RAPSN (G280R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 705720	NM_005055.5(RAPSN):c.831C>T (p.Thr277=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 2 +2 more	GLikely benign
Select item 658638	NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)	RAPSN (S274R)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 304973	NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	RAPSN (S274N)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 577733	NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)	RAPSN (M273L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1037340	NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)	RAPSN (A272T)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 968338	NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)	RAPSN (D270N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 990465	NM_005055.5(RAPSN):c.798C>T (p.Phe266=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 476125	NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	RAPSN (R259H)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 639207	NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)	RAPSN (R259G)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 448159	NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)	RAPSN (R259C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 970718	NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)	RAPSN (R257W)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 571961	NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)	RAPSN (R242Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 705053	NM_005055.5(RAPSN):c.717C>T (p.His239=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Fetal akinesia deformation sequence 2 +5 more	GBenign
Select item 304977	NM_005055.5(RAPSN):c.690+10C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 841787	NM_005055.5(RAPSN):c.690+4G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 991110	NM_005055.5(RAPSN):c.682T>C (p.Cys228Arg)	RAPSN (C228R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 647705	NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)	RAPSN (G223S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 476124	NM_005055.5(RAPSN):c.662G>A (p.Arg221His)	RAPSN (R221H)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 946118	NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)	RAPSN (R221C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 476123	NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)	RAPSN (R217C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 259630	NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)	RAPSN (R205Q)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GBenign
Select item 1034454	NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)	RAPSN (R205W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 991111	NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro)	RAPSN (L202P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 1009012	NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)	RAPSN (N194S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 640470	NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)	RAPSN (A190S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1067929	NM_005055.5(RAPSN):c.531+1G>T	RAPSN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 11 +2 more	GPathogenic/Likely pathogenic
Select item 856323	NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	RAPSN (V165M)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 304978	NM_005055.5(RAPSN):c.492C>T (p.Arg164=)	RAPSN	Single nucleotide variant (synonymous variant)	RAPSN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 955518	NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)	RAPSN (A159T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 259628	NM_005055.5(RAPSN):c.474C>T (p.Asp158=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 662777	NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)	RAPSN (D158del)	Microsatellite (inframe_deletion)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 130091	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	RAPSN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 972659	NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)	RAPSN (R151C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 733107	NM_005055.5(RAPSN):c.429G>A (p.Leu143=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 304980	NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	RAPSN (V138I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 879296	NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	RAPSN (G122R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 304981	NM_005055.5(RAPSN):c.360G>T (p.Gln120His)	RAPSN (Q120H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1001865	NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)	RAPSN (L110F)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1034545	NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)	RAPSN (C109G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1063407	NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)	RAPSN (C106Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1073877	NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)	RAPSN (C97*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic
Select item 991112	NM_005055.5(RAPSN):c.279C>T (p.Asn93=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 381703	NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	RAPSN (R91C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
Select item 968696	NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)	RAPSN (L89V)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 1014758	NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)	RAPSN (L83Q)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 235304	NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	RAPSN (F81L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 640683	NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)	RAPSN (R74W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 647539	NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)	RAPSN (T72M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GUncertain significance
Select item 880473	NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)	RAPSN (V68I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 567634	NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)	RAPSN (A66T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 259627	NM_005055.5(RAPSN):c.193-15C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +4 more	GBenign
Select item 130090	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	RAPSN (R58C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +4 more	GBenign/Likely benign
Select item 639907	NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)	RAPSN (S54L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 878745	NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)	RAPSN (G47D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 8055	NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	RAPSN (V45M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 991113	NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)	RAPSN (R44C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 767529	NM_005055.5(RAPSN):c.111G>A (p.Ser37=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely benign

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