"PreventionGenetics, part of Exact Sciences"[submitter] AND "TLE6"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050493	NM_001143986.2(TLE6):c.18G>T (p.Gln6His)	TLE6 (Q6H)	Single nucleotide variant (missense variant +2 more)	TLE6-related disorder	GBenign
Select item 3042946	NM_001143986.2(TLE6):c.993+8C>T	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GLikely benign
Select item 3048524	NM_001143986.2(TLE6):c.1095G>A (p.Ala365=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 3057162	NM_001143986.2(TLE6):c.1158T>C (p.Asp386=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign
Select item 3046348	NM_001143986.2(TLE6):c.1269A>G (p.Gly423=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 3060824	NM_001143986.2(TLE6):c.1387-3T>C	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GBenign
Select item 3040040	NM_001143986.2(TLE6):c.1461A>G (p.Gln487=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 3047110	NM_001143986.2(TLE6):c.1584C>T (p.Tyr528=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 3052081	NM_001143986.2(TLE6):c.1615-7C>A	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GLikely benign
Select item 741067	NM_001143986.2(TLE6):c.1615-6C>T	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder +1 more	GBenign/Likely benign
Select item 3046377	NM_001143986.2(TLE6):c.1615-5del	TLE6	Deletion (intron variant)	TLE6-related disorder	GLikely benign
Select item 3060759	NM_001143986.2(TLE6):c.1620T>C (p.Pro540=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign
Select item 3060029	NM_001143986.2(TLE6):c.1638G>A (p.Thr546=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign