"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1216 - ClinVar - NCBI

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Search results

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 436898	NM_006950.3(SYN1):c.816C>T (p.His272=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign
Select item 1487051	NM_006950.3(SYN1):c.794C>T (p.Pro265Leu)	LOC121627969, SYN1 (P265L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2695374	NM_006950.3(SYN1):c.789G>C (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1610341	NM_006950.3(SYN1):c.789G>T (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 699369	NM_006950.3(SYN1):c.789G>A (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2129218	NM_006950.3(SYN1):c.780C>T (p.Ser260=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2883733	NM_006950.3(SYN1):c.775-3C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 1557609	NM_006950.3(SYN1):c.775-14del	LOC121627969, SYN1	Deletion (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1587026	NM_006950.3(SYN1):c.775-17T>C	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1581575	NM_006950.3(SYN1):c.775-20C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign