ClinVar for MedGen (Select 813625) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362343	NM_001130823.3(DNMT1):c.616G>A (p.Asp206Asn)	DNMT1 (D190N +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GUncertain significance
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 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 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 1305834	NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu)	DNMT1 (Q166E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GUncertain significance
Select item 1254310	NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr)	DNMT1 (A1037T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GUncertain significance
Select item 1102656	NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GLikely benign
Select item 1061265	NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)	DNMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1033722	NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser)	DNMT1, LOC126862853 (G1482S +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 1027465	NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)	DNMT1 (A1088V +2 more)	Single nucleotide variant (missense variant)	Spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1002749	NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg)	DNMT1 (S183R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
Select item 976693	NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)	DNMT1 (L487R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GLikely pathogenic
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 930982	NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)	DNMT1 (R853C +2 more)	Single nucleotide variant (missense 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 859581	NM_001130823.3(DNMT1):c.3394+4C>T	DNMT1	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GUncertain significance
Select item 853368	NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp)	DNMT1 (R192W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
Select item 852192	NM_001130823.3(DNMT1):c.855C>T (p.Gly285=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 851195	NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser)	DNMT1 (N935S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 807592	NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)	DNMT1 (M1312T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GLikely pathogenic
Select item 772182	NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GLikely benign
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 681295	NM_001130823.3(DNMT1):c.2721-45C>T	DNMT1	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GBenign
Select item 670504	NM_001130823.3(DNMT1):c.3394+34T>C	DNMT1	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GBenign
Select item 666124	NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln)	DNMT1 (K284Q +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GUncertain significance
Select item 634570	NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly)	DNMT1 (D217G +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
Select item 573027	NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala)	DNMT1 (V286A +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GUncertain significance
Select item 569266	NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu)	DNMT1 (P232L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 565384	NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=)	DNMT1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GUncertain significance
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
Select item 539606	NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser)	DNMT1 (P128S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GConflicting classifications of pathogenicity
Select item 472277	NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met)	DNMT1 (V1495M +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 472269	NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile)	DNMT1 (V1088I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 472265	NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)	DNMT1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +1 more	GLikely benign
Select item 327915	NM_001130823.3(DNMT1):c.1044-8del	DNMT1	Deletion (intron variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +3 more	GBenign
Select item 327912	NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 327901	NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign/Likely benign
Select item 257538	NM_001130823.3(DNMT1):c.1832+14A>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign
Select item 257537	NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257536	NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign
Select item 246584	NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)	DNMT1 (T772N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 246040	NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)	DNMT1 (H1118R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 234309	NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)	DNMT1 (G244E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +4 more	GBenign/Likely benign
Select item 50921	NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)	DNMT1 (G605A +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	GLikely pathogenic
Select item 50920	NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val)	DNMT1 (A570V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GPathogenic
Select item 50919	NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe)	DNMT1 (V606F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 29682	NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	DNMT1 (Y495C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 49