DNMT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 369254	NM_001130823.2(DNMT1):c.*323C>G	DNMT1	Single nucleotide variant	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 891484	NM_001130823.3(DNMT1):c.*287T>C	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 327881	NM_001130823.3(DNMT1):c.*274T>C	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 891485	NM_001130823.3(DNMT1):c.*253G>A	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 891486	NM_001130823.3(DNMT1):c.*211G>C	DNMT1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
Select item 327882	NM_001130823.3(DNMT1):c.*165T>G	DNMT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327883	NM_001130823.3(DNMT1):c.*126A>G	DNMT1	Single nucleotide variant (3 prime UTR variant)	Dementia, Deafness, and Sensory Neuropathy	GUncertain significance
Select item 891736	NM_001130823.3(DNMT1):c.*34A>C	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 891737	NM_001130823.3(DNMT1):c.*29G>A	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 327885	NM_001130823.3(DNMT1):c.*18C>A	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 327884	NM_001130823.3(DNMT1):c.*18C>T	DNMT1	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2571982	NM_001130823.3(DNMT1):c.4896C>G (p.Asp1632Glu)	DNMT1 (D1511E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719505	NM_001130823.3(DNMT1):c.4895A>G (p.Asp1632Gly)	DNMT1 (D1511G +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 327886	NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His)	DNMT1 (D1632H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1326043	NM_001130823.3(DNMT1):c.4891A>G (p.Lys1631Glu)	DNMT1 (K1510E +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 1984472	NM_001130823.3(DNMT1):c.4884A>T (p.Glu1628Asp)	DNMT1 (E1507D +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2649285	NM_001130823.3(DNMT1):c.4881G>A (p.Glu1627=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 1590428	NM_001130823.3(DNMT1):c.4878G>A (p.Glu1626=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
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 1986087	NM_001130823.3(DNMT1):c.4867A>G (p.Lys1623Glu)	DNMT1 (K1623E +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 678899	NM_001130823.3(DNMT1):c.4865-154G>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259821	NM_001130823.3(DNMT1):c.4865-177C>T	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258099	NM_001130823.3(DNMT1):c.4864+112C>T	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1965764	NM_001130823.3(DNMT1):c.4864+18A>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2989110	NM_001130823.3(DNMT1):c.4864+16C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2022765	NM_001130823.3(DNMT1):c.4864+13G>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2833897	NM_001130823.3(DNMT1):c.4864+8G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
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 1060782	NM_001130823.3(DNMT1):c.4857T>G (p.Ser1619Arg)	DNMT1 (S1498R +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1420822	NM_001130823.3(DNMT1):c.4856G>A (p.Ser1619Asn)	DNMT1 (S1603N +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1403229	NM_001130823.3(DNMT1):c.4850G>A (p.Arg1617Gln)	DNMT1 (R1496Q +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 956000	NM_001130823.3(DNMT1):c.4849C>T (p.Arg1617Ter)	DNMT1 (R1604* +3 more)	Single nucleotide variant (nonsense)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1044882	NM_001130823.3(DNMT1):c.4845A>T (p.Lys1615Asn)	DNMT1 (K1602N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1993562	NM_001130823.3(DNMT1):c.4842C>T (p.Ala1614=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3084813	NM_001130823.3(DNMT1):c.4840dup (p.Ala1614fs)	DNMT1 (A1598fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 759544	NM_001130823.3(DNMT1):c.4839G>A (p.Leu1613=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1716326	NM_001130823.3(DNMT1):c.4828C>T (p.Leu1610Phe)	DNMT1 (L1489F +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 578040	NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys)	DNMT1 (E1607K +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 760039	NM_001130823.3(DNMT1):c.4816T>C (p.Leu1606=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2129881	NM_001130823.3(DNMT1):c.4799T>G (p.Leu1600Arg)	DNMT1 (L1600R +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2911451	NM_001130823.3(DNMT1):c.4794G>A (p.Pro1598=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 766874	NM_001130823.3(DNMT1):c.4785C>T (p.Ala1595=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1132990	NM_001130823.3(DNMT1):c.4779C>G (p.Gly1593=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1084432	NM_001130823.3(DNMT1):c.4779C>A (p.Gly1593=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1625297	NM_001130823.3(DNMT1):c.4774-12C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1298058	NM_001130823.3(DNMT1):c.4774-94T>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199650	NM_001130823.3(DNMT1):c.4773+205C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195186	NM_001130823.3(DNMT1):c.4773+97C>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2649286	NM_001130823.3(DNMT1):c.4773+72G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649287	NM_001130823.3(DNMT1):c.4773+57C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1461548	NM_001130823.3(DNMT1):c.4773+20C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1575900	NM_001130823.3(DNMT1):c.4773+19G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
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 1566327	NM_001130823.3(DNMT1):c.4773+15G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1473372	NM_001130823.3(DNMT1):c.4773+14C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1591711	NM_001130823.3(DNMT1):c.4773+12G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2881964	NM_001130823.3(DNMT1):c.4773+10dup	DNMT1, LOC126862853	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 1618333	NM_001130823.3(DNMT1):c.4773+11C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 1742678	NM_001130823.3(DNMT1):c.4773+3C>G	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1159760	NM_001130823.3(DNMT1):c.4761C>T (p.Asp1587=)	LOC126862853, DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1380008	NM_001130823.3(DNMT1):c.4754T>C (p.Ile1585Thr)	DNMT1, LOC126862853 (I1569T +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 741899	NM_001130823.3(DNMT1):c.4752C>T (p.Asn1584=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1695613	NM_001130823.3(DNMT1):c.4746C>G (p.Phe1582Leu)	DNMT1, LOC126862853 (F1461L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096932	NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 568452	NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe)	DNMT1, LOC126862853 (L1581F +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 576510	NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln)	DNMT1, LOC126862853 (R1580Q +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 389304	NM_001130823.3(DNMT1):c.4734C>T (p.Thr1578=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1013643	NM_001130823.3(DNMT1):c.4733C>G (p.Thr1578Ser)	DNMT1, LOC126862853 (T1457S +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 746595	NM_001130823.3(DNMT1):c.4722C>A (p.Gly1574=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3254757	NM_001130823.3(DNMT1):c.4711C>T (p.Arg1571Cys)	DNMT1, LOC126862853 (R1450C +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GUncertain significance
Select item 2440977	NM_001130823.3(DNMT1):c.4700G>A (p.Arg1567Gln)	DNMT1, LOC126862853 (R1446Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111246	NM_001130823.3(DNMT1):c.4695C>T (p.Ser1565=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1143648	NM_001130823.3(DNMT1):c.4692G>T (p.Val1564=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2773164	NM_001130823.3(DNMT1):c.4685G>A (p.Arg1562His)	DNMT1, LOC126862853 (R1441H +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1742058	NM_001130823.3(DNMT1):c.4683C>G (p.His1561Gln)	DNMT1, LOC126862853 (H1545Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761110	NM_001130823.3(DNMT1):c.4671C>T (p.His1557=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1510214	NM_001130823.3(DNMT1):c.4663G>A (p.Val1555Met)	DNMT1, LOC126862853 (V1434M +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1614816	NM_001130823.3(DNMT1):c.4662C>T (p.Arg1554=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 744066	NM_001130823.3(DNMT1):c.4659C>T (p.Gly1553=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1651018	NM_001130823.3(DNMT1):c.4657-5C>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 744022	NM_001130823.3(DNMT1):c.4657-7C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2143854	NM_001130823.3(DNMT1):c.4657-9_4657-8del	DNMT1, LOC126862853	Deletion (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 327887	NM_001130823.3(DNMT1):c.4657-15G>A	LOC126862853, DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign/Likely benign
Select item 1982958	NM_001130823.3(DNMT1):c.4657-16C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2141844	NM_001130823.3(DNMT1):c.4657-17G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1612930	NM_001130823.3(DNMT1):c.4657-18C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2954862	NM_001130823.3(DNMT1):c.4657-20A>G	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1212603	NM_001130823.3(DNMT1):c.4657-27C>G	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190070	NM_001130823.3(DNMT1):c.4657-57C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205589	NM_001130823.3(DNMT1):c.4657-69C>G	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220371	NM_001130823.3(DNMT1):c.4656+111_4656+112dup	LOC126862853, DNMT1	Duplication (intron variant)	not provided	GLikely benign
Select item 2023549	NM_001130823.3(DNMT1):c.4656+13G>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 703380	NM_001130823.3(DNMT1):c.4656+9G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GBenign/Likely benign
Select item 2975917	NM_001130823.3(DNMT1):c.4656+7G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1685301	NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)	LOC126862853, DNMT1 (E1426D +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GLikely pathogenic
Select item 1561149	NM_001130823.3(DNMT1):c.4638C>T (p.Pro1546=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1027527	NM_001130823.3(DNMT1):c.4636C>T (p.Pro1546Ser)	DNMT1, LOC126862853 (P1425S +3 more)	Single nucleotide variant (missense variant)	Spastic ataxia	GLikely pathogenic
Select item 547912	NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)	DNMT1, LOC126862853 (P1546A +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance

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