Related gene-specific medical variations for Gene (Select 22948) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338306	CCT5, LEU224VAL (rs925661175)	CCT5	Single nucleotide variant	not provided	GUncertain significance
Select item 3246348	NC_000005.9:g.(?_10264748)_(10264895_?)dup	CCT5	Duplication	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 3246347	NC_000005.9:g.(?_10250453)_(10264895_?)dup	CCT5	Duplication	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2688729	NM_012073.5(CCT5):c.1289C>G (p.Ala430Gly)	CCT5 (A337G +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2688728	NM_012073.5(CCT5):c.1624T>G (p.Ter542Gly)	CCT5	Single nucleotide variant (stop lost)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1258319	NM_012073.5(CCT5):c.105+171C>G	CCT5, LOC129993647	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 618555	NM_012073.5(CCT5):c.2T>G (p.Met1Arg)	CCT5 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 548523	NM_012073.5(CCT5):c.267G>C (p.Lys89Asn)	CCT5 (K89N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance

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