"Blueprint Genetics"[submitter] AND "TTLL5"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867121	NM_015072.5(TTLL5):c.491C>T (p.Ala164Val)	TTLL5 (A164V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 867003	NM_015072.5(TTLL5):c.1099G>A (p.Val367Met)	TTLL5 (V367M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 867129	NM_015072.5(TTLL5):c.1408C>T (p.Arg470Ter)	TTLL5 (R470*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 290244	NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)	TTLL5 (R479*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 139517	NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)	TTLL5 (E543K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 867153	NM_015072.5(TTLL5):c.1654C>T (p.Arg552Ter)	TTLL5 (R552*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867152	NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln)	TTLL5 (R677Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866515	NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter)	TTLL5 (R1170*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic