"Eurofins Ntd Llc (ga)"[submitter] AND "RS1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598449	NM_003159.3(CDKL5):c.2797+10G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 283858	NM_003159.3(CDKL5):c.2797+12G>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 285377	NM_000330.4(RS1):c.234G>A (p.Pro78=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 386178	NM_003159.3(CDKL5):c.2867G>A (p.Arg956His)	CDKL5, RS1 (R956H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 136716	NM_003159.3(CDKL5):c.2994C>T (p.Phe998=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 94110	NM_000330.4(RS1):c.184+3207C>T	CDKL5, RS1 (V999M)	Single nucleotide variant (missense variant +1 more)	West syndrome +6 more	GBenign
Select item 94111	NM_000330.4(RS1):c.184+3199G>A	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenignFDA Recognized database
Select item 166822	NM_000330.4(RS1):c.184+3171C>T	CDKL5, RS1 (A1011T)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benignFDA Recognized database
Select item 500991	NM_003159.3(CDKL5):c.3074C>T (p.Ala1025Val)	CDKL5, RS1 (A1025V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 94112	NM_000330.4(RS1):c.184+3118C>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenignFDA Recognized database