"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 906045	NM_012073.5(CCT5):c.331+14A>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GConflicting classifications of pathogenicity
Select item 811641	NM_012073.5(CCT5):c.332-18C>G	CCT5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 240840	NM_012073.5(CCT5):c.437A>T (p.Glu146Val)	CCT5 (E146V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 701185	NM_012073.5(CCT5):c.1005C>T (p.Ile335=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 350254	NM_012073.5(CCT5):c.1059G>A (p.Leu353=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GBenign/Likely benign
Select item 240839	NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)	CCT5 (I362M +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 906106	NM_012073.5(CCT5):c.1425C>T (p.Thr475=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GConflicting classifications of pathogenicity