"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TIMP1"[ - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583809	NC_000023.11:g.(?_47572844)_(47605399_?)del	LOC119369039, LOC121627969 +6 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 533669	NC_000023.10:g.(?_47432243)_(47479147_?)dup	LOC125467745, LOC119369039 +6 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 1165693	NM_006950.3(SYN1):c.775-8085A>G	SYN1, TIMP1	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GBenign
Select item 732080	NM_003254.3(TIMP1):c.574C>T (p.Arg192Trp)	SYN1, TIMP1 (R192W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 720215	NM_003254.3(TIMP1):c.575G>A (p.Arg192Gln)	SYN1, TIMP1 (R192Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3246563	NC_000023.10:g.(?_47432333)_(47489243_?)dup	CFP, SYN1 +1 more	Duplication	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	CCDC22, CCNB3 +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	SSX3, SSX4 +35 more	Deletion	not provided	GPathogenic