C3279885[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
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 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 246060	NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)	DNMT1 (E1626K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 539619	NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 282132	NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 196998	NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)	DNMT1 (H1476Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 327888	NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe)	DNMT1 (I1402F +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 834643	NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 889307	NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	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 889989	NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 327890	NM_001130823.3(DNMT1):c.3948+4G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GConflicting classifications of pathogenicity
Select item 257541	NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 327891	NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign/Likely benign
Select item 327892	NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 707638	NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GBenign/Likely benign
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 889990	NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp)	DNMT1 (R1073W +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 891547	NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 891548	NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GConflicting classifications of pathogenicity
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 327895	NM_001130823.3(DNMT1):c.3394+7C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	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 327897	NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser)	DNMT1 (P1115S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
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 891806	NM_001130823.3(DNMT1):c.3117-4G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 257540	NM_001130823.3(DNMT1):c.3117-8G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891807	NM_001130823.3(DNMT1):c.3116+11G>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 891808	NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met)	DNMT1 (I1012M +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376891	NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met)	DNMT1 (V972M +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 327898	NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln)	DNMT1 (R936Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 327899	NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg)	DNMT1 (G876R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 327900	NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327901	NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)	DNMT1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy +2 more	GBenign/Likely benign
Select item 327902	NM_001130823.3(DNMT1):c.2382-4C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 327903	NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile)	DNMT1 (V754I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327904	NM_001130823.3(DNMT1):c.2117+13G>A	DNMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 889363	NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 327905	NM_001130823.3(DNMT1):c.2020-10C>T	DNMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 327906	NM_001130823.3(DNMT1):c.2019+15G>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 327907	NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 327908	NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign/Likely benign
Select item 384833	NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GBenign/Likely benign
Select item 327909	NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 890057	NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 257538	NM_001130823.3(DNMT1):c.1832+14A>G	DNMT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257537	NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign
Select item 137134	NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=)	DNMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 327910	NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign
Select item 327911	NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala)	DNMT1 (E479A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 257536	NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 327912	NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 808443	NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 767054	NM_001130823.3(DNMT1):c.1171-7C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GConflicting classifications of pathogenicity
Select item 891872	NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 539599	NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr)	DNMT1 (A356T +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 327913	NM_001130823.3(DNMT1):c.1044-18dup	DNMT1	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
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 327914	NM_001130823.3(DNMT1):c.1044-9_1044-8del	DNMT1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 327916	NM_001130823.3(DNMT1):c.1009-8C>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 327917	NM_001130823.3(DNMT1):c.996C>T (p.Asp332=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GBenign
Select item 327918	NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met)	DNMT1 (I327M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 137133	NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)	DNMT1 (I327V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 327919	NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro)	DNMT1 (Q326P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 327920	NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser)	DNMT1 (P306S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 193835	NM_001130823.3(DNMT1):c.891+8C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +3 more	GBenign/Likely benign
Select item 889424	NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys)	DNMT1 (E296K +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
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 706949	NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GConflicting classifications of pathogenicity
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)	Hereditary sensory neuropathy-deafness-dementia syndrome +4 more	GBenign/Likely benign
Select item 889425	NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GConflicting classifications of pathogenicity
Select item 327921	NM_001130823.3(DNMT1):c.633A>G (p.Glu211=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 573940	NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln)	DNMT1 (K176Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 472279	NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro)	DNMT1 (T174P +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 327922	NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg)	DNMT1 (P167R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 257542	NM_001130823.3(DNMT1):c.493+8C>T	DNMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 327923	NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)	DNMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327924	NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)	DNMT1 (T137M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234461	NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)	DNMT1 (R136C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327925	NM_001130823.3(DNMT1):c.393C>T (p.Pro131=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327926	NM_001130823.3(DNMT1):c.387C>T (p.Pro129=)	DNMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 246583	NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)	DNMT1 (P128T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 327927	NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)	DNMT1 (V120L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 257539	NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)	DNMT1 (H97R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome +2 more	GBenign

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