"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246060	NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)	DNMT1 (E1626K +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 539619	NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GBenign
Select item 377791	NM_001130823.3(DNMT1):c.4773+18C>T	LOC126862853, DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1096932	NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 810922	NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 384796	NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 377790	NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 196998	NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)	DNMT1 (H1476Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 377789	NM_001130823.3(DNMT1):c.4294-17C>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 377788	NM_001130823.3(DNMT1):c.4294-19G>C	DNMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 618605	NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu)	DNMT1 (S1398L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1607672	NM_001130823.3(DNMT1):c.4116-16T>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 257541	NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 379603	NM_001130823.3(DNMT1):c.3807-14C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +2 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 +1 more	GBenign/Likely benign
Select item 812051	NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 381317	NM_001130823.3(DNMT1):c.3117-9C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 246281	NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile)	DNMT1 (T898I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 539613	NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 327900	NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 327902	NM_001130823.3(DNMT1):c.2382-4C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 539617	NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 327904	NM_001130823.3(DNMT1):c.2117+13G>A	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 810932	NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys)	DNMT1 (S577C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 327907	NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1095086	NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 381309	NM_001130823.3(DNMT1):c.1722G>A (p.Val574=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 327910	NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 379140	NM_001130823.3(DNMT1):c.1095C>T (p.His365=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 644560	NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu)	DNMT1 (P348L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 618606	NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly)	DNMT1 (E317G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193835	NM_001130823.3(DNMT1):c.891+8C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 246059	NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)	DNMT1 (E290K +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 257544	NM_001130823.3(DNMT1):c.768+18C>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 257543	NM_001130823.3(DNMT1):c.768+12T>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 234309	NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)	DNMT1 (G244E +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 246280	NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)	DNMT1 (A192V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377786	NM_001130823.3(DNMT1):c.117+19T>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign

ClinVar

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Items: 41