"Revvity Omics, Revvity"[submitter] AND "RAPSN"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1912214	NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)	RAPSN (R404C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 771638	NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	RAPSN (R338Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 476117	NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)	RAPSN (N394S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1439494	NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)	RAPSN (E313G +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 304970	NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	RAPSN (V356M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 542734	NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)	RAPSN (R346W +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1984790	NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)	RAPSN (E274K +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 304972	NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	RAPSN (E310K)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 2078869	NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)	RAPSN (D303E)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 2042343	NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)	RAPSN (A301V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 689779	NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	RAPSN (G291D)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2 +3 more	GConflicting classifications of pathogenicity
Select item 964986	NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)	RAPSN (A288V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 8052	NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	RAPSN (L283P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 11 +5 more	GConflicting classifications of pathogenicity
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 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 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 304974	NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)	RAPSN (D261N)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 476125	NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	RAPSN (R259H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197248	NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	RAPSN (A246V)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 304975	NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)	RAPSN (A236T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	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 1324987	NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	RAPSN (E227*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 647705	NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)	RAPSN (G223S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1406773	NM_005055.5(RAPSN):c.650G>A (p.Arg217His)	RAPSN (R217H)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 2139893	NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)	RAPSN (W200C)	Single nucleotide variant (missense variant)	not provided +2 more	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 856323	NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	RAPSN (V165M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GPathogenic/Likely pathogenic
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 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 1391785	NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)	RAPSN (M160T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 2435365	NM_005055.5(RAPSN):c.473A>G (p.Asp158Gly)	RAPSN (D158G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878687	NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)	RAPSN (A153S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972659	NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)	RAPSN (R151C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 542736	NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)	RAPSN (A149T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 859852	NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	RAPSN (A142D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +4 more	GConflicting classifications of pathogenicity
Select item 879296	NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	RAPSN (G122R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +4 more	GUncertain significance
Select item 304981	NM_005055.5(RAPSN):c.360G>T (p.Gln120His)	RAPSN (Q120H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	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 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 1427199	NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)	RAPSN (C97Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1705170	NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	RAPSN (E94K)	Single nucleotide variant (missense variant)	RAPSN-related disorder +5 more	GConflicting classifications of pathogenicity
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 2435366	NM_005055.5(RAPSN):c.245T>C (p.Leu82Pro)	RAPSN (L82P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416428	NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)	RAPSN (D80N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 567562	NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)	RAPSN (D78N)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 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)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 567634	NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)	RAPSN (A66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1372095	NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)	RAPSN (K60Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1443915	NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)	RAPSN (Y59C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
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 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)	Congenital myasthenic syndrome 11 +3 more	GPathogenic/Likely pathogenic
Select item 582364	NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)	RAPSN (N20I)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1052540	NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)	RAPSN (E11D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance

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Items: 61