"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196998	NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)	DNMT1 (H1476Q +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign/Likely benign
Select item 706182	NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 327901	NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327904	NM_001130823.3(DNMT1):c.2117+13G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 327907	NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 327914	NM_001130823.3(DNMT1):c.1044-9_1044-8del	DNMT1	Deletion (intron variant)	Dementia, Deafness, and Sensory Neuropathy +2 more	GBenign
Select item 193835	NM_001130823.3(DNMT1):c.891+8C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 257542	NM_001130823.3(DNMT1):c.493+8C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 137132	NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)	DNMT1 (R69H)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 196315	NM_001130823.3(DNMT1):c.150C>T (p.His50=)	DNMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity