C4225367[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304965	NM_005055.5(RAPSN):c.*211G>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
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 304967	NM_005055.5(RAPSN):c.*80G>C	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 304968	NM_005055.5(RAPSN):c.*57C>T	RAPSN	Single nucleotide variant (3 prime UTR variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 304969	NM_005055.5(RAPSN):c.*16G>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 877631	NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 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)	not provided +3 more	GConflicting classifications of pathogenicity
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 878641	NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)	RAPSN (G308S +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +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)	Inborn genetic diseases +4 more	GUncertain significance
Select item 632161	NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)	RAPSN (E285fs +1 more)	Deletion (frameshift variant)	RAPSN-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 259623	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 2 +4 more	GConflicting classifications of pathogenicity
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 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 879238	NM_005055.5(RAPSN):c.912+9G>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 288000	NM_005055.5(RAPSN):c.903G>A (p.Ala301=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	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 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 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 304976	NM_005055.5(RAPSN):c.691-4G>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Congenital Myasthenic Syndrome, Recessive +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 476122	NM_005055.5(RAPSN):c.640G>A (p.Val214Met)	RAPSN (V214M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 689780	NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)	RAPSN (A153T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +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 304979	NM_005055.5(RAPSN):c.429G>C (p.Leu143=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 304980	NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	RAPSN (V138I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 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 476120	NM_005055.5(RAPSN):c.363C>T (p.Leu121=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GBenign/Likely benign
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 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +7 more	GPathogenic/Likely pathogenic
Select item 235304	NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	RAPSN (F81L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GBenign
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 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 +3 more	GBenign
Select item 304982	NM_005055.5(RAPSN):c.192+12C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GConflicting classifications of pathogenicity
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
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 878746	NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp)	RAPSN (E34D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 878747	NM_005055.5(RAPSN):c.-23G>A	RAPSN	Single nucleotide variant (5 prime UTR variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 304983	NM_005055.5(RAPSN):c.-72C>T	RAPSN	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 304985	NM_005055.5(RAPSN):c.-78G>A	RAPSN	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 304986	NM_005055.5(RAPSN):c.-113C>T	RAPSN	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 304987	NM_005055.5(RAPSN):c.-118C>A	RAPSN	Single nucleotide variant (5 prime UTR variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 304988	NM_005055.5(RAPSN):c.-121C>T	RAPSN	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance

ClinVar

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Items: 52