"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "YY1AP1" - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 726019	NM_139119.3(YY1AP1):c.2250T>C (p.Leu750=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709137	NM_139119.3(YY1AP1):c.1773C>T (p.Ala591=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719456	NM_139119.3(YY1AP1):c.1737G>A (p.Ala579=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780262	NM_139119.3(YY1AP1):c.1719G>A (p.Met573Ile)	YY1AP1 (M711I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725700	NM_139119.3(YY1AP1):c.1461C>T (p.Pro487=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781665	NM_139119.3(YY1AP1):c.1456A>G (p.Met486Val)	YY1AP1 (M475V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 782389	NM_139119.3(YY1AP1):c.1405C>G (p.Leu469Val)	YY1AP1 (L403V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780263	NM_139119.3(YY1AP1):c.1304A>G (p.Gln435Arg)	YY1AP1 (Q369R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 742114	NM_139119.3(YY1AP1):c.1269C>T (p.Leu423=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710876	NM_139119.3(YY1AP1):c.1202A>G (p.Lys401Arg)	YY1AP1 (K381R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 789694	NM_139119.3(YY1AP1):c.1158G>A (p.Lys386=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773817	NM_139119.3(YY1AP1):c.1149A>G (p.Leu383=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720259	NM_139119.3(YY1AP1):c.975C>T (p.His325=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744613	NM_139119.3(YY1AP1):c.702G>A (p.Lys234=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752448	NM_139119.3(YY1AP1):c.384G>A (p.Pro128=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719314	NM_139119.3(YY1AP1):c.324+7C>T	YY1AP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720659	NM_139119.3(YY1AP1):c.-30C>T	DAP3, YY1AP1 (L57F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 775608	NM_139119.3(YY1AP1):c.-49T>C	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 782734	NM_139119.3(YY1AP1):c.-60T>C	DAP3, YY1AP1 (S119P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 773115	NM_139119.3(YY1AP1):c.-95G>A	DAP3, YY1AP1 (G107E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 720286	NM_139119.3(YY1AP1):c.-151-23C>T	DAP3, YY1AP1 (L81F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2066821	NM_139119.3(YY1AP1):c.-151-43T>A	DAP3, YY1AP1 (L74*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 791223	NM_139119.3(YY1AP1):c.-151-68T>C	DAP3, YY1AP1 (S66P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 783949	NM_139119.3(YY1AP1):c.-151-84A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1076776	NM_139119.3(YY1AP1):c.-151-100dup	DAP3, YY1AP1 (G56fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 736159	NM_139119.3(YY1AP1):c.-151-128_-151-120del	DAP3, YY1AP1	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 740041	NM_139119.3(YY1AP1):c.-151-126C>T	YY1AP1, DAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, PRCC +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

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Items: 32