"GeneDx"[submitter] AND "DNMT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1326043	NM_001130823.3(DNMT1):c.4891A>G (p.Lys1631Glu)	DNMT1 (K1510E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 246060	NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)	DNMT1 (E1626K +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 377791	NM_001130823.3(DNMT1):c.4773+18C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 389304	NM_001130823.3(DNMT1):c.4734C>T (p.Thr1578=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not specified	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 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 669314	NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=)	LOC126862853, DNMT1	Single nucleotide variant (synonymous variant)	not provided +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 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 377790	NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)	LOC126862853, DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 511674	NM_001130823.3(DNMT1):c.4490-4C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided +2 more	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 1272491	NM_001130823.3(DNMT1):c.4490-306C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451221	NM_001130823.3(DNMT1):c.4444C>T (p.Arg1482Cys)	DNMT1 (R1482C +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 196998	NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)	DNMT1 (H1476Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 472276	NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1424487	NM_001130823.3(DNMT1):c.4324C>T (p.Arg1442Trp)	DNMT1 (R1426W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377789	NM_001130823.3(DNMT1):c.4294-17C>A	DNMT1	Single nucleotide variant (intron variant)	not provided +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 1293062	NM_001130823.3(DNMT1):c.4293+238C>G	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197790	NM_001130823.3(DNMT1):c.4293+236T>G	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514129	NM_001130823.3(DNMT1):c.4293+17A>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 450943	NM_001130823.3(DNMT1):c.4255G>A (p.Ala1419Thr)	DNMT1 (A1419T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 961725	NM_001130823.3(DNMT1):c.4236C>G (p.Phe1412Leu)	DNMT1 (F1291L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618605	NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu)	DNMT1 (S1398L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 327889	NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 381077	NM_001130823.3(DNMT1):c.4116-9C>T	DNMT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1230024	NM_001130823.3(DNMT1):c.4116-204C>T	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382234	NM_001130823.3(DNMT1):c.4115+16C>T	DNMT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387825	NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 245911	NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val)	DNMT1 (A1334V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 948822	NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr)	DNMT1 (A1318T +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 506346	NM_001130823.3(DNMT1):c.3963C>T (p.Gly1321=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
Select item 784851	NM_001130823.3(DNMT1):c.3949-9dup	DNMT1	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GLikely benign
Select item 1206934	NM_001130823.3(DNMT1):c.3949-149G>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187548	NM_001130823.3(DNMT1):c.3948+239G>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187768	NM_001130823.3(DNMT1):c.3948+220G>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257541	NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 379603	NM_001130823.3(DNMT1):c.3807-14C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GLikely benign
Select item 289710	NM_001130823.3(DNMT1):c.3806+6C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426790	NM_001130823.3(DNMT1):c.3767A>G (p.Tyr1256Cys)	DNMT1 (Y1256C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580396	NM_001130823.3(DNMT1):c.3678G>A (p.Arg1226=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446340	NM_001130823.3(DNMT1):c.3670G>A (p.Gly1224Ser)	DNMT1 (G1103S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438391	NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)	DNMT1 (R1223H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1415880	NM_001130823.3(DNMT1):c.3667C>T (p.Arg1223Cys)	DNMT1 (R1223C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308047	NM_001130823.3(DNMT1):c.3656C>T (p.Thr1219Ile)	DNMT1 (T1098I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963838	NM_001130823.3(DNMT1):c.3595G>A (p.Gly1199Ser)	DNMT1 (G1078S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509158	NM_001130823.3(DNMT1):c.3524-16G>A	DNMT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1229241	NM_001130823.3(DNMT1):c.3524-59dup	DNMT1	Duplication (intron variant)	not provided	GBenign
Select item 1246615	NM_001130823.3(DNMT1):c.3524-45del	DNMT1	Deletion (intron variant)	not provided	GBenign
Select item 678898	NM_001130823.3(DNMT1):c.3523+90C>G	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 539603	NM_001130823.3(DNMT1):c.3523+6C>T	DNMT1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 426877	NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His)	DNMT1 (Q1173H +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 1303825	NM_001130823.3(DNMT1):c.3509G>T (p.Gly1170Val)	DNMT1 (G1049V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472271	NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327893	NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys)	DNMT1 (S1138C +2 more)	Single nucleotide variant (missense variant)	not provided +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 670504	NM_001130823.3(DNMT1):c.3394+34T>C	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1712034	NM_001130823.3(DNMT1):c.3363C>G (p.Ser1121Arg)	DNMT1 (S1000R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246040	NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)	DNMT1 (H1118R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +3 more	GUncertain significance
Select item 327896	NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related condition +2 more	GBenign/Likely benign
Select item 1313141	NM_001130823.3(DNMT1):c.3343C>G (p.Pro1115Ala)	DNMT1 (P1099A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516391	NM_001130823.3(DNMT1):c.3310-18C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1208845	NM_001130823.3(DNMT1):c.3310-114A>C	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678897	NM_001130823.3(DNMT1):c.3310-133T>C	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189213	NM_001130823.3(DNMT1):c.3309+131C>T	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 891549	NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 393013	NM_001130823.3(DNMT1):c.3283G>A (p.Gly1095Ser)	DNMT1 (G1095S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472269	NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile)	DNMT1 (V1088I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 717991	NM_001130823.3(DNMT1):c.3261C>T (p.Cys1087=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373368	NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met)	DNMT1 (V1078M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1329807	NM_001130823.3(DNMT1):c.3209A>G (p.Lys1070Arg)	DNMT1 (K1054R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511323	NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 1806503	NM_001130823.3(DNMT1):c.3176A>G (p.Tyr1059Cys)	DNMT1 (Y1043C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254310	NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr)	DNMT1 (A1037T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1311680	NM_001130823.3(DNMT1):c.3139A>G (p.Thr1047Ala)	DNMT1 (T1031A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 381317	NM_001130823.3(DNMT1):c.3117-9C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GLikely benign
Select item 1201074	NM_001130823.3(DNMT1):c.3117-182G>C	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679322	NM_001130823.3(DNMT1):c.3117-203A>C	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680553	NM_001130823.3(DNMT1):c.3117-288T>C	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668555	NM_001130823.3(DNMT1):c.3116+327C>T	DNMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210731	NM_001130823.3(DNMT1):c.3116+208G>A	DNMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 234804	NM_001130823.3(DNMT1):c.3031C>T (p.Arg1011Trp)	DNMT1 (R1011W +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 848517	NM_001130823.3(DNMT1):c.3013G>A (p.Glu1005Lys)	DNMT1 (E1005K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 597786	NM_001130823.3(DNMT1):c.2950C>A (p.Leu984Met)	DNMT1 (L984M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594210	NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)	DNMT1	Single nucleotide variant (synonymous variant)	DNMT1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 382837	NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign

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