"GeneDx"[submitter] AND "TTLL5"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 58332	GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3	BATF, ERG28 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1166457	NM_015072.5(TTLL5):c.75-3T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1186754	NM_015072.5(TTLL5):c.181+23A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200580	NM_015072.5(TTLL5):c.264+1G>A	TTLL5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1236402	NM_015072.5(TTLL5):c.265-63T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279440	NM_015072.5(TTLL5):c.265-47G>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801976	NM_015072.5(TTLL5):c.366T>A (p.Phe122Leu)	TTLL5 (F122L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677189	NM_015072.5(TTLL5):c.446C>T (p.Ala149Val)	TTLL5 (A149V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 19 +1 more	GBenign
Select item 1283684	NM_015072.5(TTLL5):c.502+69T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 813099	NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter)	TTLL5 (Y210*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1266470	NM_015072.5(TTLL5):c.934+45A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254339	NM_015072.5(TTLL5):c.1124+68del	TTLL5	Deletion (intron variant)	not provided	GBenign
Select item 677190	NM_015072.5(TTLL5):c.1187-56G>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301452	NM_015072.5(TTLL5):c.1396-22T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677191	NM_015072.5(TTLL5):c.1709-7T>C	TTLL5	Single nucleotide variant (intron variant)	Cone-rod dystrophy 19 +1 more	GBenign
Select item 1252318	NM_015072.5(TTLL5):c.2016-74G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677239	NM_015072.5(TTLL5):c.2136+6G>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234727	NM_015072.5(TTLL5):c.2136+72del	TTLL5	Deletion (intron variant)	not provided	GBenign
Select item 784292	NM_015072.5(TTLL5):c.2232C>T (p.Arg744=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1170254	NM_015072.5(TTLL5):c.2388-12T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204154	NM_015072.5(TTLL5):c.2516-61A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376879	NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe)	TTLL5 (L879F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1166458	NM_015072.5(TTLL5):c.2872A>G (p.Thr958Ala)	TTLL5 (T958A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 817683	NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs)	TTLL5 (G1115fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1168582	NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289890	NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA	TTLL5	Insertion (intron variant)	not provided	GBenign
Select item 1270367	NM_015072.5(TTLL5):c.3522+73G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230470	NM_015072.5(TTLL5):c.3522+74_3522+75insA	TTLL5	Insertion (intron variant)	not provided	GBenign
Select item 1190462	NM_015072.5(TTLL5):c.3522+74G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713374	NM_015072.5(TTLL5):c.3667G>T (p.Ala1223Ser)	TTLL5 (A1223S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 677213	NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser)	TTLL5 (F1267S)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 33