"GeneDx"[submitter] AND "CCT5"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1272001	NC_000005.10:g.10249898A>T	CCT5	Single nucleotide variant	not provided	GBenign
Select item 1276469	NM_012073.4(CCT5):c.-418_-406delAAAAAAAAAAAAC	CCT5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1287292	NM_012073.4(CCT5):c.-417_-406delAAAAAAAAAAAC	CCT5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1181342	NM_012073.4(CCT5):c.-416_-406delAAAAAAAAAAC	CCT5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1276713	NM_012073.4(CCT5):c.-415_-406delAAAAAAAAAC	CCT5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 350245	NM_012073.5(CCT5):c.-23G>A	CCT5	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 350246	NM_012073.5(CCT5):c.-10T>C	CCT5	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
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 1243489	NM_012073.5(CCT5):c.106-140C>T	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 350248	NM_012073.5(CCT5):c.198A>G (p.Gly66=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1192658	NM_012073.5(CCT5):c.331+71T>C	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1192659	NM_012073.5(CCT5):c.331+133A>C	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1261205	NM_012073.5(CCT5):c.331+146_331+147insCT	CCT5	Insertion (intron variant)	not provided	GBenign
Select item 1239373	NM_012073.5(CCT5):c.331+184A>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226164	NM_012073.5(CCT5):c.332-246T>C	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811641	NM_012073.5(CCT5):c.332-18C>G	CCT5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 350249	NM_012073.5(CCT5):c.426T>C (p.Arg142=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +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 1327	NM_012073.5(CCT5):c.440A>G (p.His147Arg)	CCT5 (H147R +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1192660	NM_012073.5(CCT5):c.530+100C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1192661	NM_012073.5(CCT5):c.531-98G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 240841	NM_012073.5(CCT5):c.738G>A (p.Ala246=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1231691	NM_012073.5(CCT5):c.874-328A>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270918	NM_012073.5(CCT5):c.874-248_874-247insT	CCT5	Insertion (intron variant)	not provided	GBenign
Select item 1248657	NM_012073.5(CCT5):c.993+42C>T	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292989	NM_012073.5(CCT5):c.993+227C>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230018	NM_012073.5(CCT5):c.994-264T>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279311	NM_012073.5(CCT5):c.994-238G>C	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192662	NM_012073.5(CCT5):c.994-130C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1192663	NM_012073.5(CCT5):c.1179+109G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1177725	NM_012073.5(CCT5):c.1179+301A>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230479	NM_012073.5(CCT5):c.1180-246G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237915	NM_012073.5(CCT5):c.1180-227C>T	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259684	NM_012073.5(CCT5):c.1180-188G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 350257	NM_012073.5(CCT5):c.1317+10C>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 1221001	NM_012073.5(CCT5):c.1317+40C>T	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292991	NM_012073.5(CCT5):c.1318-205A>C	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296001	NM_012073.5(CCT5):c.1498+28A>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192664	NM_012073.5(CCT5):c.1498+28del	CCT5	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1282597	NM_012073.5(CCT5):c.1498+30G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192666	NM_012073.5(CCT5):c.1498+36_1498+38del	CCT5	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1231984	NM_012073.5(CCT5):c.1498+38A>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228359	NM_012073.5(CCT5):c.1498+156G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257274	NM_012073.5(CCT5):c.1498+191G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296122	NM_012073.5(CCT5):c.1498+266T>G	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236765	NM_012073.5(CCT5):c.1498+299G>A	CCT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 350262	NM_012073.5(CCT5):c.*67A>G	CCT5	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 350264	NM_012073.5(CCT5):c.*181C>T	CCT5	Single nucleotide variant (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GBenign
Select item 253596	GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 253478	GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	See cases	GPathogenic

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Items: 51