"PreventionGenetics, part of Exact Sciences"[submitter] AND "TLL1"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056763	NM_012464.5(TLL1):c.67G>C (p.Gly23Arg)	TLL1 (G23R)	Single nucleotide variant (missense variant)	TLL1-related disorder	GBenign
Select item 3035134	NM_012464.5(TLL1):c.170-8T>C	TLL1	Single nucleotide variant (intron variant)	TLL1-related disorder	GLikely benign
Select item 2635852	NM_012464.5(TLL1):c.412G>A (p.Gly138Arg)	TLL1 (G138R)	Single nucleotide variant (missense variant)	TLL1-related disorder	GUncertain significance
Select item 3053878	NM_012464.5(TLL1):c.573G>A (p.Val191=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related disorder	GLikely benign
Select item 2287027	NM_012464.5(TLL1):c.991C>T (p.Arg331Cys)	LOC123493235, TLL1 (R331C)	Single nucleotide variant (missense variant)	TLL1-related disorder +1 more	GUncertain significance
Select item 3042357	NM_012464.5(TLL1):c.1043-9dup	TLL1	Duplication (intron variant)	TLL1-related disorder	GBenign
Select item 3058119	NM_012464.5(TLL1):c.1158+5023T>C	TLL1 (V387A)	Single nucleotide variant (missense variant +1 more)	TLL1-related disorder	GLikely benign
Select item 3037583	NM_012464.5(TLL1):c.1159-10C>T	TLL1	Single nucleotide variant (intron variant)	TLL1-related disorder	GBenign
Select item 3039650	NM_012464.5(TLL1):c.1233C>T (p.Asp411=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related disorder	GLikely benign
Select item 3037651	NM_012464.5(TLL1):c.1437T>G (p.Pro479=)	LOC126807212, TLL1	Single nucleotide variant (synonymous variant)	TLL1-related disorder	GLikely benign
Select item 3045388	NM_012464.5(TLL1):c.1633A>G (p.Ile545Val)	TLL1 (I545V)	Single nucleotide variant (missense variant)	TLL1-related disorder	GBenign
Select item 2634896	NM_012464.5(TLL1):c.1841_1846+3dup	TLL1	Duplication (splice donor variant)	TLL1-related disorder	GUncertain significance
Select item 710956	NM_012464.5(TLL1):c.2073A>G (p.Lys691=)	TLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3056559	NM_012464.5(TLL1):c.2083G>A (p.Ala695Thr)	TLL1 (A695T)	Single nucleotide variant (missense variant)	TLL1-related disorder	GLikely benign
Select item 710957	NM_012464.5(TLL1):c.2244G>A (p.Thr748=)	TLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3055774	NM_012464.5(TLL1):c.2424T>C (p.Pro808=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related disorder	GBenign
Select item 2630647	NM_012464.5(TLL1):c.2614G>A (p.Ala872Thr)	TLL1 (A872T)	Single nucleotide variant (missense variant)	TLL1-related disorder	GUncertain significance
Select item 2630843	NM_012464.5(TLL1):c.2741A>G (p.Gln914Arg)	TLL1 (Q914R)	Single nucleotide variant (missense variant)	TLL1-related disorder	GUncertain significance
Select item 2437104	NM_012464.5(TLL1):c.2783G>A (p.Arg928Gln)	TLL1 (R928Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3045301	NM_012464.5(TLL1):c.*9C>T	TLL1	Single nucleotide variant (3 prime UTR variant)	TLL1-related disorder	GLikely benign

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Items: 20