"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAPSN"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3039196	NM_005055.5(RAPSN):c.1167-36C>A	RAPSN	Single nucleotide variant (intron variant)	RAPSN-related disorder	GLikely benign
Select item 130089	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 847394	NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	RAPSN (K314del +1 more)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 259624	NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +2 more	GLikely benign
Select item 259623	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	RAPSN	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 436505	NM_005055.5(RAPSN):c.960G>A (p.Gly320=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 879239	NM_005055.5(RAPSN):c.912+9G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 130092	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 304973	NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	RAPSN (S274N)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 259631	NM_005055.5(RAPSN):c.790-5T>C	RAPSN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Congenital Myasthenic Syndrome, Recessive +5 more	GBenign
Select item 259630	NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)	RAPSN (R205Q)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 8048	NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)	RAPSN (F185fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 11 +2 more	GPathogenic/Likely pathogenic
Select item 259629	NM_005055.5(RAPSN):c.531+23C>T	RAPSN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1146785	NM_005055.5(RAPSN):c.528C>G (p.Val176=)	RAPSN	Single nucleotide variant (synonymous variant)	RAPSN-related disorder +2 more	GLikely benign
Select item 304978	NM_005055.5(RAPSN):c.492C>T (p.Arg164=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +3 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)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 2631040	NM_005055.5(RAPSN):c.395C>T (p.Ala132Val)	RAPSN (A132V)	Single nucleotide variant (missense variant)	RAPSN-related disorder	GUncertain significance
Select item 721794	NM_005055.5(RAPSN):c.246C>T (p.Leu82=)	RAPSN	Single nucleotide variant (synonymous variant)	RAPSN-related disorder +2 more	GLikely benign
Select item 235304	NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	RAPSN (F81L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GBenign
Select item 716518	NM_005055.5(RAPSN):c.195C>T (p.Phe65=)	RAPSN	Single nucleotide variant (synonymous variant)	RAPSN-related disorder +2 more	GLikely benign
Select item 259627	NM_005055.5(RAPSN):c.193-15C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +3 more	GBenign
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 130090	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	RAPSN (R58C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 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

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Items: 28