"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RGS12"[ - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715449	NM_001394154.1(RGS12):c.963C>G (p.Asp321Glu)	RGS12 (D321E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775945	NM_001394154.1(RGS12):c.2502G>A (p.Ala834=)	LOC126806950, RGS12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738526	NM_001394154.1(RGS12):c.3825G>A (p.Pro1275=)	RGS12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 753884	NM_001394154.1(RGS12):c.4191C>T (p.Pro1397=)	RGS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	DOK7, FAM193A +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1374044	NC_000004.11:g.(?_2822345)_(3495228_?)dup	ADD1, DOK7 +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