"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	not specified +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 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 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 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 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 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 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 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 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 748589	NM_001130823.3(DNMT1):c.4635C>T (p.Asn1545=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 669314	NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 384796	NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 751893	NM_001130823.3(DNMT1):c.4590T>C (p.Tyr1530=)	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 282132	NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 758338	NM_001130823.3(DNMT1):c.4539C>T (p.Pro1513=)	LOC126862853, DNMT1	Single nucleotide variant (synonymous 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 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 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 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 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 377790	NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 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 704251	NM_001130823.3(DNMT1):c.4491C>T (p.Ala1497=)	DNMT1, LOC126862853	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	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 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 511674	NM_001130823.3(DNMT1):c.4490-4C>T	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
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 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 1613285	NM_001130823.3(DNMT1):c.4490-16C>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign

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Items: 61