"DNMT1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1657035	NM_001130823.3(DNMT1):c.4194G>A (p.Ser1398=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related disorder +1 more	GLikely benign
Select item 3049891	NM_001130823.3(DNMT1):c.3819C>T (p.Tyr1273=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related disorder	GLikely benign
Select item 1102656	NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GLikely benign
Select item 3029805	NM_001130823.3(DNMT1):c.3611C>T (p.Thr1204Ile)	DNMT1 (T1083I +2 more)	Single nucleotide variant (missense variant)	DNMT1-related disorder	GUncertain significance
Select item 2577344	NM_001130823.3(DNMT1):c.3524-5G>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1102319	NM_001130823.3(DNMT1):c.3523+10C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 472271	NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 327894	NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 327896	NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 381317	NM_001130823.3(DNMT1):c.3117-9C>T	DNMT1	Single nucleotide variant (intron variant)	DNMT1-related disorder +2 more	GLikely benign
Select item 594210	NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 376891	NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met)	DNMT1 (V972M +2 more)	Single nucleotide variant (missense variant)	DNMT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2631910	NM_001130823.3(DNMT1):c.2729T>C (p.Val910Ala)	DNMT1 (V789A +2 more)	Single nucleotide variant (missense variant)	DNMT1-related disorder	GUncertain significance
Select item 327902	NM_001130823.3(DNMT1):c.2382-4C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 327905	NM_001130823.3(DNMT1):c.2020-10C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 388339	NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related disorder +2 more	GBenign/Likely benign
Select item 714036	NM_001130823.3(DNMT1):c.1458T>C (p.Asp486=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 383726	NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 381073	NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related disorder +2 more	GLikely benign
Select item 1668141	NM_001130823.3(DNMT1):c.1044-8T>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 2148549	NM_001130823.3(DNMT1):c.957A>T (p.Glu319Asp)	DNMT1 (E198D +2 more)	Single nucleotide variant (missense variant)	DNMT1-related disorder +1 more	GUncertain significance
Select item 234681	NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu)	DNMT1 (K307E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 472282	NM_001130823.3(DNMT1):c.81-3C>T	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	DNMT1-related disorder +4 more	GBenign/Likely benign
Select item 2784752	NM_001130823.3(DNMT1):c.80G>A (p.Arg27Gln)	DNMT1, LOC130063472 (R27Q)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance

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Items: 25