C3809672[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192391	NM_020987.5(ANK3):c.*19+88G>T	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192392	NM_020987.5(ANK3):c.*19+77T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192393	NM_020987.5(ANK3):c.*19+56T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192394	NM_020987.5(ANK3):c.*19+55T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192395	NM_020987.5(ANK3):c.13066-33T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192428	NM_020987.5(ANK3):c.13066-44C>A	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192429	NM_020987.5(ANK3):c.13066-62dup	ANK3	Duplication (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GBenign
Select item 1192430	NM_020987.5(ANK3):c.12686+49A>C	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 128385	NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg)	ANK3 (K3123R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 128380	NM_020987.5(ANK3):c.8895T>C (p.Ala2965=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 128368	NM_020987.5(ANK3):c.3045G>T (p.Thr1015=)	ANK3	Single nucleotide variant (synonymous variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192431	NM_020987.5(ANK3):c.2479-74T>C	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128372	NM_020987.5(ANK3):c.468C>G (p.Val156=)	ANK3	Single nucleotide variant (synonymous variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign