"GeneDx"[submitter] AND "RAPSN"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304966	NM_005055.5(RAPSN):c.*207C>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +2 more	GBenign/Likely benign
Select item 304968	NM_005055.5(RAPSN):c.*57C>T	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +3 more	GBenign
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 545747	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	RAPSN (N393fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 684034	NM_005055.5(RAPSN):c.1166+278A>G	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669109	NM_005055.5(RAPSN):c.1166+185G>A	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
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 847394	NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	RAPSN (K314del +1 more)	Microsatellite (inframe_deletion)	Fetal akinesia deformation sequence 1 +4 more	GPathogenic/Likely pathogenic
Select item 190252	NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)	RAPSN (Y362fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1275213	NM_005055.5(RAPSN):c.966+275C>T	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259632	NM_005055.5(RAPSN):c.913-15A>G	RAPSN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 668612	NM_005055.5(RAPSN):c.913-75del	RAPSN	Deletion (intron variant)	not provided	GBenign
Select item 513200	NM_005055.5(RAPSN):c.912+20A>G	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely benign
Select item 280676	NM_005055.5(RAPSN):c.853_855delinsTAA (p.Gln285Ter)	RAPSN (Q285*)	Indel (nonsense +1 more)	not provided	GPathogenic
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 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 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Fetal akinesia deformation sequence 2 +5 more	GBenign
Select item 1198925	NM_005055.5(RAPSN):c.690+175G>T	RAPSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1406773	NM_005055.5(RAPSN):c.650G>A (p.Arg217His)	RAPSN (R217H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +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 2139893	NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)	RAPSN (W200C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1300475	NM_005055.5(RAPSN):c.532-37A>C	RAPSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261925	NM_005055.5(RAPSN):c.532-153C>T	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258623	NM_005055.5(RAPSN):c.532-218G>A	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191219	NM_005055.5(RAPSN):c.531+161T>C	RAPSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285362	NM_005055.5(RAPSN):c.491G>A (p.Arg164His)	RAPSN (R164H)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +1 more	GConflicting classifications of pathogenicity
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 130091	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	RAPSN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 381702	NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	RAPSN (E147K)	Single nucleotide variant (missense variant)	RAPSN-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 859852	NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	RAPSN (A142D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 476121	NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	RAPSN (Q124*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1705170	NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	RAPSN (E94K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 497298	NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	RAPSN (R91L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
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 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Myopathy +7 more	GPathogenic/Likely pathogenic
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 516690	NM_005055.5(RAPSN):c.193-14G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign/Likely benign
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 1208273	NM_005055.5(RAPSN):c.193-103G>T	RAPSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255097	NM_005055.5(RAPSN):c.193-120C>T	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679646	NM_005055.5(RAPSN):c.193-243G>A	RAPSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259626	NM_005055.5(RAPSN):c.192+46G>A	RAPSN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2678235	NM_005055.5(RAPSN):c.192+2T>G	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic
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 259625	NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 430474	NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)	RAPSN (V50fs)	Indel (frameshift variant)	Congenital myasthenic syndrome +2 more	GPathogenic
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 1315131	NM_005055.5(RAPSN):c.70A>G (p.Lys24Glu)	RAPSN (K24E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8047	NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	RAPSN (L14P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1190754	NC_000011.10:g.47449306C>T	RAPSN	Single nucleotide variant	not provided	GLikely benign
Select item 679851	NM_005055.4(RAPSN):c.-346T>G	RAPSN	Single nucleotide variant	not provided	GBenign
Select item 1290284	NC_000011.10:g.47449501C>T	RAPSN	Single nucleotide variant	not provided	GBenign
Select item 1676360	NM_005055.5(RAPSN):c.690+46G>A	RAPSN	Single nucleotide variant	not provided	GLikely benign

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Items: 53