Related gene-specific medical variations for Gene (Select 23093) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244096	NC_000014.8:g.(?_76286330)_(76286524_?)dup	TTLL5	Duplication	not provided	GLikely pathogenic
Select item 3244095	NC_000014.8:g.(?_76129493)_(76420789_?)dup	TTLL5	Duplication	not provided	GUncertain significance
Select item 3244093	NC_000014.8:g.(?_76230938)_(76259463_?)del	TTLL5	Deletion	not provided	GPathogenic
Select item 3244092	NC_000014.8:g.(?_76147868)_(76147990_?)del	TTLL5	Deletion	not provided	GPathogenic
Select item 3244091	NC_000014.8:g.(?_76238057)_(76238217_?)del	TTLL5	Deletion	not provided	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 867129	NM_015072.5(TTLL5):c.1408C>T (p.Arg470Ter)	TTLL5 (R470*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 687938	GRCh37/hg19 14q24.3(chr14:76279519-76359171)x1	TTLL5	Copy number loss	not provided	GPathogenic
Select item 444865	GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0	TTLL5	Copy number loss	not provided	GLikely pathogenic

ClinVar