CN239189[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 327883	NM_001130823.3(DNMT1):c.*126A>G	DNMT1	Single nucleotide variant (3 prime UTR variant)	Dementia, Deafness, and Sensory Neuropathy	GUncertain significance
Select item 327898	NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln)	DNMT1 (R936Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 327913	NM_001130823.3(DNMT1):c.1044-18dup	DNMT1	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 327915	NM_001130823.3(DNMT1):c.1044-8del	DNMT1	Deletion (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +3 more	GBenign
Select item 327914	NM_001130823.3(DNMT1):c.1044-9_1044-8del	DNMT1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 327928	NM_001130823.3(DNMT1):c.81-12del	DNMT1, LOC107080555	Deletion (intron variant)	Dementia, Deafness, and Sensory Neuropathy +1 more	GConflicting classifications of pathogenicity

ClinVar