"GeneDx"[submitter] AND "TLL1"[gene] - ClinVar

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Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 1240677	NM_012464.5(TLL1):c.-228T>C	TLL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1239489	NM_012464.5(TLL1):c.514+168G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373416	NM_012464.5(TLL1):c.544A>G (p.Met182Val)	TLL1 (M182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226159	NM_012464.5(TLL1):c.812-184C>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257296	NM_012464.5(TLL1):c.917+76A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280329	NM_012464.5(TLL1):c.1158+192G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243550	NM_012464.5(TLL1):c.1159-128G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242309	NM_012464.5(TLL1):c.1525-163A>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226390	NM_012464.5(TLL1):c.1846+79del	TLL1	Deletion (intron variant)	not provided	GBenign
Select item 1237986	NM_012464.5(TLL1):c.1847-213A>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287053	NM_012464.5(TLL1):c.1847-136G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177812	NM_012464.5(TLL1):c.2007+303A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280599	NM_012464.5(TLL1):c.2008-142A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276775	NM_012464.5(TLL1):c.2188+110A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223935	NM_012464.5(TLL1):c.2314+192A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252294	NM_012464.5(TLL1):c.2314+259G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230029	NM_012464.5(TLL1):c.2443-217G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274199	NM_012464.5(TLL1):c.2443-143_2443-142insAT	TLL1	Insertion (intron variant)	not provided	GBenign
Select item 1265276	NM_012464.5(TLL1):c.2443-31T>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274198	NM_012464.5(TLL1):c.2443-24_2443-23dup	TLL1	Duplication (intron variant)	not provided	GBenign
Select item 1181275	NM_012464.5(TLL1):c.2443-30T>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232669	NM_012464.5(TLL1):c.2656+50T>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251347	NM_012464.5(TLL1):c.2656+188T>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261223	NM_012464.5(TLL1):c.2657-105C>T	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391699	NM_012464.5(TLL1):c.2861G>A (p.Gly954Asp)	TLL1 (G954D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275013	NM_012464.5(TLL1):c.2872A>G (p.Thr958Ala)	TLL1 (T958A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1224009	NM_012464.5(TLL1):c.2907+115dup	TLL1	Duplication (intron variant)	not provided	GBenign
Select item 1252189	NM_012464.5(TLL1):c.2908-214G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 32