Related gene-specific medical variations for Gene (Select 5913) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244680	NC_000011.9:g.(?_47455479)_(47460424_?)del	RAPSN	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3244679	NC_000011.9:g.(?_47459516)_(47464376_?)del	RAPSN	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3240272	NM_005055.5(RAPSN):c.422del (p.Lys141fs)	RAPSN (K141fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 3065636	NM_005055.5(RAPSN):c.976C>T (p.Leu326Phe)	RAPSN (L267F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11	GUncertain significance
Select item 2678236	NM_005055.5(RAPSN):c.157del (p.His53fs)	RAPSN (H53fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678234	NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)	RAPSN (Q333* +1 more)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678233	NM_005055.5(RAPSN):c.690+1G>A	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 2	GPathogenic
Select item 2678231	NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)	RAPSN (L247fs)	Insertion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678230	NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)	RAPSN (W29*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678229	NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)	RAPSN (C323fs +1 more)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678227	NM_005055.5(RAPSN):c.967-2A>G	RAPSN	Single nucleotide variant (splice acceptor variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678226	NM_005055.5(RAPSN):c.1207del (p.Arg403fs)	RAPSN (R344fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678223	NM_005055.5(RAPSN):c.39del (p.Leu14fs)	RAPSN (L14fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2506531	GRCh37/hg19 11p11.2(chr11:47459526-47460482)	RAPSN	Copy number loss	Congenital myasthenic syndrome 11	GLikely pathogenic
Select item 2435368	NM_005055.5(RAPSN):c.169G>C (p.Gly57Arg)	RAPSN (G57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435367	NM_005055.5(RAPSN):c.314A>G (p.Tyr105Cys)	RAPSN (Y105C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435366	NM_005055.5(RAPSN):c.245T>C (p.Leu82Pro)	RAPSN (L82P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435365	NM_005055.5(RAPSN):c.473A>G (p.Asp158Gly)	RAPSN (D158G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435364	NM_005055.5(RAPSN):c.1183G>C (p.Gly395Arg)	RAPSN (G336R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435363	NM_005055.5(RAPSN):c.697A>G (p.Met233Val)	RAPSN (M233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676360	NM_005055.5(RAPSN):c.690+46G>A	RAPSN	Single nucleotide variant	not provided	GLikely benign
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 991111	NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro)	RAPSN (L202P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	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 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 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 259629	NM_005055.5(RAPSN):c.531+23C>T	RAPSN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 242501	NM_005055.4:c.829A>G	RAPSN (T277A)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242500	NM_005055.4:c.524A>G	RAPSN (Q175R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 29