"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SUV39H1 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730023	NM_003173.4(SUV39H1):c.762T>C (p.Arg254=)	SUV39H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	CCDC22, CCNB3 +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2424348	NC_000023.10:g.(?_48542243)_(48652571_?)del	GATA1, GLOD5 +2 more	Deletion	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	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 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	AKAP4, BMP15 +60 more	Duplication	X-linked severe congenital neutropenia +4 more	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 832862	NC_000023.10:g.(?_48543926)_(48652581_?)dup	WAS, GATA1 +2 more	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 541110	NC_000023.10:g.(?_48542223)_(48768933_?)dup	ERAS, GATA1 +8 more	Duplication	SLC35A2-congenital disorder of glycosylation	GUncertain significance