Related gene-specific medical variations for Gene (Select 1786) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2994486	NM_001130823.3(DNMT1):c.106T>C (p.Leu36=)	DNMT1, LOC107080555	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2991627	NM_001130823.3(DNMT1):c.23C>G (p.Ala8Gly)	DNMT1, LOC130063472 (A8G)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2979010	NM_001130823.3(DNMT1):c.80+13G>T	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely 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 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 2897740	NM_001130823.3(DNMT1):c.55T>C (p.Ser19Pro)	DNMT1, LOC130063472 (S19P)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2889186	NM_001130823.3(DNMT1):c.48G>A (p.Pro16=)	DNMT1, LOC130063472	Single nucleotide variant (synonymous variant +1 more)	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 2879802	NM_001130823.3(DNMT1):c.81-9T>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2868486	NM_001130823.3(DNMT1):c.117+12C>T	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2853412	NM_001130823.3(DNMT1):c.4599C>A (p.Leu1533=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2829799	NM_001130823.3(DNMT1):c.19C>G (p.Pro7Ala)	DNMT1, LOC130063472 (P7A)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
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
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 2769990	NM_001130823.3(DNMT1):c.80+18G>C	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2706945	NM_001130823.3(DNMT1):c.106T>G (p.Leu36Val)	DNMT1, LOC107080555 (L36V)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2698687	NM_001130823.3(DNMT1):c.81-20C>A	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	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 2649286	NM_001130823.3(DNMT1):c.4773+72G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500644	NM_001130823.3(DNMT1):c.4C>T (p.Pro2Ser)	DNMT1, LOC130063472 (P2S)	Single nucleotide variant (missense variant +1 more)	not provided	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 2181883	NM_001130823.3(DNMT1):c.4490-9G>A	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 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 2047421	NM_001130823.3(DNMT1):c.80+14G>C	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2040891	NM_001130823.3(DNMT1):c.80+11T>G	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	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 1986068	NM_001130823.3(DNMT1):c.6G>A (p.Pro2=)	DNMT1, LOC130063472	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely 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 1975568	NM_001130823.3(DNMT1):c.22G>T (p.Ala8Ser)	DNMT1, LOC130063472 (A8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1966305	NM_001130823.3(DNMT1):c.47C>T (p.Pro16Leu)	DNMT1, LOC130063472 (P16L)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1956843	NM_001130823.3(DNMT1):c.4509C>G (p.Pro1503=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1926398	NM_001130823.3(DNMT1):c.81-6T>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 1801007	NM_001130823.3(DNMT1):c.4630A>T (p.Thr1544Ser)	DNMT1, LOC126862853 (T1423S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1798641	NM_001130823.3(DNMT1):c.29T>G (p.Val10Gly)	DNMT1, LOC130063472 (V10G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753901	NM_001130823.3(DNMT1):c.64G>A (p.Asp22Asn)	DNMT1, LOC130063472 (D22N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 1728783	NM_001130823.3(DNMT1):c.31C>G (p.Pro11Ala)	DNMT1, LOC130063472 (P11A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 1679751	NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln)	DNMT1 (R1258Q +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 1652480	NM_001130823.3(DNMT1):c.81-3del	DNMT1, LOC107080555	Deletion (intron 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 1638719	NM_001130823.3(DNMT1):c.80+18dup	DNMT1, LOC130063472	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 1635916	NM_001130823.3(DNMT1):c.4509C>T (p.Pro1503=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1627208	NM_001130823.3(DNMT1):c.4490-10T>C	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
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 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 1613285	NM_001130823.3(DNMT1):c.4490-16C>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 1597711	NM_001130823.3(DNMT1):c.4521G>A (p.Gln1507=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous 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 1583037	NM_001130823.3(DNMT1):c.80+20A>T	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1578466	NM_001130823.3(DNMT1):c.81-15A>G	DNMT1, LOC107080555	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 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 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 1525432	NM_001130823.3(DNMT1):c.4514C>T (p.Ala1505Val)	DNMT1, LOC126862853 (A1384V +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1524699	NM_001130823.3(DNMT1):c.101A>G (p.Asp34Gly)	DNMT1, LOC107080555 (D34G)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
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 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 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 1461083	NM_001130823.3(DNMT1):c.61C>G (p.Pro21Ala)	DNMT1, LOC130063472 (P21A)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1447852	NM_001130823.3(DNMT1):c.4600G>C (p.Glu1534Gln)	DNMT1, LOC126862853 (E1521Q +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1429630	NM_001130823.3(DNMT1):c.80+18G>T	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1383112	NM_001130823.3(DNMT1):c.4490C>T (p.Ala1497Val)	DNMT1, LOC126862853 (A1376V +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
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 1366223	NM_001130823.3(DNMT1):c.80+5G>T	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1354952	NM_001130823.3(DNMT1):c.19C>T (p.Pro7Ser)	DNMT1, LOC130063472 (P7S)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1353167	NM_001130823.3(DNMT1):c.44T>C (p.Val15Ala)	DNMT1, LOC130063472 (V15A)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 1307998	NM_001130823.3(DNMT1):c.4510G>A (p.Ala1504Thr)	DNMT1, LOC126862853 (A1383T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272491	NM_001130823.3(DNMT1):c.4490-306C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251748	NM_001130823.3(DNMT1):c.81-148G>A	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228618	NM_001130823.3(DNMT1):c.81-271G>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220371	NM_001130823.3(DNMT1):c.4656+111_4656+112dup	LOC126862853, DNMT1	Duplication (intron variant)	not provided	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 1211452	NM_001130823.3(DNMT1):c.4490-297G>A	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 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 1190070	NM_001130823.3(DNMT1):c.4657-57C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1159760	NM_001130823.3(DNMT1):c.4761C>T (p.Asp1587=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1150056	NM_001130823.3(DNMT1):c.27G>A (p.Arg9=)	DNMT1, LOC130063472	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 1143648	NM_001130823.3(DNMT1):c.4692G>T (p.Val1564=)	LOC126862853, DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
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 1097352	NM_001130823.3(DNMT1):c.4557C>T (p.Thr1519=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely 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 1072609	NM_001130823.3(DNMT1):c.4490-1G>C	DNMT1, LOC126862853	Single nucleotide variant (splice acceptor variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GPathogenic
Select item 1033722	NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser)	DNMT1, LOC126862853 (G1482S +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
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 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 1006732	NM_001130823.3(DNMT1):c.4630A>G (p.Thr1544Ala)	DNMT1, LOC126862853 (T1423A +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 962918	NM_001130823.3(DNMT1):c.97A>G (p.Arg33Gly)	DNMT1, LOC107080555 (R33G)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 936760	NM_001130823.3(DNMT1):c.4493G>T (p.Gly1498Val)	DNMT1, LOC126862853 (G1377V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 931368	NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)	DNMT1 (E1014D +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GUncertain significance
Select item 860100	NM_001130823.3(DNMT1):c.4514C>G (p.Ala1505Gly)	DNMT1, LOC126862853 (A1492G +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 838352	NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu)	DNMT1, LOC130063472 (P2L)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
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 808442	NM_001130823.3(DNMT1):c.2433C>G (p.His811Gln)	DNMT1 (H811Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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