ClinVar for PubMed (Select 25678562) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664461	NM_001130823.3(DNMT1):c.1640T>A (p.Ile547Asn)	DNMT1 (I426N +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2664460	NM_001130823.3(DNMT1):c.1618T>G (p.Tyr540Asp)	DNMT1 (Y419D +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2664459	NM_001130823.3(DNMT1):c.1489A>C (p.Thr497Pro)	DNMT1 (T376P +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2664458	NM_001130823.3(DNMT1):c.1106G>T (p.Cys369Phe)	DNMT1 (C248F +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1067356	NM_001130823.3(DNMT1):c.1619A>C (p.Tyr540Ser)	DNMT1 (Y419S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely pathogenic
Select item 654394	NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu)	DNMT1 (P386L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 29682	NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	DNMT1 (Y495C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GPathogenic/Likely pathogenic

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