"Clinical Genetics, Academic Medical Center"[submitter] AND "DNMT1"[ge - ClinVar

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Items: 25

	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)	not specified +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 257541	NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 853829	NM_001130823.3(DNMT1):c.3813C>T (p.Cys1271=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1191519	NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn)	DNMT1 (D1046N +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 327901	NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)	DNMT1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GBenign/Likely benign
Select item 327902	NM_001130823.3(DNMT1):c.2382-4C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 327904	NM_001130823.3(DNMT1):c.2117+13G>A	DNMT1	Single nucleotide variant (intron variant)	not specified +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 257538	NM_001130823.3(DNMT1):c.1832+14A>G	DNMT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257537	NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign
Select item 137134	NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 327910	NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 257536	NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 327912	NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327914	NM_001130823.3(DNMT1):c.1044-9_1044-8del	DNMT1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 137133	NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)	DNMT1 (I327V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 193835	NM_001130823.3(DNMT1):c.891+8C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign/Likely benign
Select item 257542	NM_001130823.3(DNMT1):c.493+8C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 327925	NM_001130823.3(DNMT1):c.393C>T (p.Pro131=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327927	NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)	DNMT1 (V120L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 257539	NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)	DNMT1 (H97R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 137132	NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)	DNMT1 (R69H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 196315	NM_001130823.3(DNMT1):c.150C>T (p.His50=)	DNMT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 377786	NM_001130823.3(DNMT1):c.117+19T>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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Items: 25