"Blueprint Genetics"[submitter] AND "RS1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99015	NM_000330.4(RS1):c.655T>C (p.Cys219Arg)	CDKL5, RS1 (C219R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99014	NM_000330.4(RS1):c.647T>C (p.Leu216Pro)	CDKL5, RS1 (L216P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 9895	NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	CDKL5, RS1 (P203L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99000	NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	CDKL5, RS1 (R200C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98999	NM_000330.4(RS1):c.596T>C (p.Ile199Thr)	CDKL5, RS1 (I199T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 98996	NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	CDKL5, RS1 (R197C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 98995	NM_000330.4(RS1):c.579dup (p.Ile194fs)	CDKL5, RS1 (I194fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68076	NM_000330.4(RS1):c.579del (p.Ile194fs)	CDKL5, RS1 (I194fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 98990	NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	CDKL5, RS1 (P192S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 98979	NM_000330.4(RS1):c.522+1G>A	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98969	NM_000330.4(RS1):c.472G>A (p.Asp158Asn)	CDKL5, RS1 (D158N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 98967	NM_000330.4(RS1):c.460C>T (p.Gln154Ter)	CDKL5, RS1 (Q154*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866490	NM_000330.4(RS1):c.386A>T (p.Glu129Val)	CDKL5, RS1 (E129V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866069	NM_000330.4(RS1):c.375_379del (p.Asp126fs)	CDKL5, RS1 (D126fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 98943	NM_000330.4(RS1):c.337C>T (p.Leu113Phe)	CDKL5, RS1 (L113F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 98933	NM_000330.4(RS1):c.318dup (p.Gly107fs)	CDKL5, RS1 (G107fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 851015	NM_000330.4(RS1):c.316C>T (p.Gln106Ter)	CDKL5, RS1 (Q106*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9896	NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	CDKL5, RS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 9886	NM_000330.4(RS1):c.286T>C (p.Trp96Arg)	CDKL5, RS1 (W96R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 866773	NM_000330.4(RS1):c.266dup (p.Tyr89Ter)	CDKL5, RS1 (Y89*)	Duplication (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 98921	NM_000330.4(RS1):c.253_255del (p.Asn85del)	CDKL5, RS1 (N85del)	Deletion (inframe_indel +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9888	NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	CDKL5, RS1 (E72K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 372496	NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	CDKL5, RS1 (G70S)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic
Select item 866404	NM_000330.4(RS1):c.176G>A (p.Cys59Tyr)	RS1 (C59Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866630	NM_000330.4(RS1):c.133G>T (p.Gly45Ter)	RS1 (G45*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866919	NM_000330.4(RS1):c.53-1G>A	RS1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 98978	NM_000330.4(RS1):c.52+5G>C	RS1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 98946	NM_000330.4(RS1):c.35T>A (p.Leu12His)	RS1 (L12H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic

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Items: 28