"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "STK32B" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778139	NM_018401.3(STK32B):c.30C>A (p.Pro10=)	STK32B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 780456	NM_018401.3(STK32B):c.300G>A (p.Val100=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785082	NM_018401.3(STK32B):c.563-8G>T	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712544	NM_018401.3(STK32B):c.563-8G>A	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748283	NM_018401.3(STK32B):c.1038G>A (p.Pro346=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780457	NM_018401.3(STK32B):c.1141T>C (p.Leu381=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246634	NC_000004.11:g.(?_5458281)_(5586509_?)del	EVC2, LINC01587 +1 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2424447	NC_000004.11:g.(?_4861627)_(6304195_?)del	C4orf50, CRMP1 +8 more	Deletion	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 1411440	NC_000004.11:g.(?_4861627)_(6304195_?)dup	C4orf50, CRMP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	CYTL1, ADD1 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic