ClinVar for MedGen (Select 342492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3018276	NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)	CCT5 (R14C)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 3014952	NM_012073.5(CCT5):c.48C>T (p.Phe16=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 3014885	NM_012073.5(CCT5):c.994-17C>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2998169	NM_012073.5(CCT5):c.609C>T (p.Asp203=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2989297	NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe)	CCT5 (L407F +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2980499	NM_012073.5(CCT5):c.1065T>C (p.Phe355=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2980060	NM_012073.5(CCT5):c.942T>A (p.Leu314=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2976117	NM_012073.5(CCT5):c.18C>T (p.Thr6=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2965484	NM_012073.5(CCT5):c.243G>T (p.Met81Ile)	CCT5 (M43I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2919501	NM_012073.5(CCT5):c.167-13C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2915036	NM_012073.5(CCT5):c.1179+12A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2911144	NM_012073.5(CCT5):c.814G>A (p.Glu272Lys)	CCT5 (E217K +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2908013	NM_012073.5(CCT5):c.1248T>C (p.Asn416=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2906036	NM_012073.5(CCT5):c.469G>T (p.Val157Phe)	CCT5 (V102F +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2899987	NM_012073.5(CCT5):c.1A>G (p.Met1Val)	CCT5 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2899683	NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)	CCT5 (R307Q +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2895469	NM_012073.5(CCT5):c.166+18C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2895467	NM_012073.5(CCT5):c.331+13A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2855756	NM_012073.5(CCT5):c.761C>T (p.Pro254Leu)	CCT5 (P199L +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2854794	NM_012073.5(CCT5):c.288G>A (p.Lys96=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2853948	NM_012073.5(CCT5):c.737C>T (p.Ala246Val)	CCT5 (A153V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GUncertain significance
Select item 2851888	NM_012073.5(CCT5):c.139A>G (p.Thr47Ala)	CCT5 (T47A +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2807795	NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)	CCT5 (S235G +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2796413	NM_012073.5(CCT5):c.360G>A (p.Ala120=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2769668	NM_012073.5(CCT5):c.1449G>A (p.Lys483=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2748292	NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)	CCT5 (F196I +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2742461	NM_012073.5(CCT5):c.300T>C (p.Asp100=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2738134	NM_012073.5(CCT5):c.334C>T (p.Leu112=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2732058	NM_012073.5(CCT5):c.544C>T (p.His182Tyr)	CCT5 (H127Y +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2731192	NM_012073.5(CCT5):c.1317+3A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2730100	NM_012073.5(CCT5):c.993+15G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2728602	NM_012073.5(CCT5):c.724-9C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2726562	NM_012073.5(CCT5):c.167-13C>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2724716	NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)	CCT5 (L351S +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2722693	NM_012073.5(CCT5):c.13G>A (p.Gly5Arg)	CCT5 (G5R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2722335	NM_012073.5(CCT5):c.433A>G (p.Ile145Val)	CCT5 (I52V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GUncertain significance
Select item 2722286	NM_012073.5(CCT5):c.1318-8C>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2716714	NM_012073.5(CCT5):c.1498+9C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2708300	NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu)	CCT5 (Q467E +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2705475	NM_012073.5(CCT5):c.476T>A (p.Ile159Lys)	CCT5 (I159K +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
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 2585115	NM_012073.5(CCT5):c.142A>G (p.Met48Val)	CCT5 (M10V +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2425756	NC_000005.9:g.(?_10250453)_(10264895_?)del	CCT5	Deletion	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2417350	NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala)	CCT5 (T244A +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2415670	NM_012073.5(CCT5):c.1498+3G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2292949	NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)	CCT5 (D103N +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GUncertain significance
Select item 2200235	NM_012073.5(CCT5):c.6G>A (p.Ala2=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2198132	NM_012073.5(CCT5):c.167-16A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2177582	NM_012073.5(CCT5):c.568G>A (p.Val190Met)	CCT5 (V97M +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2175960	NM_012073.5(CCT5):c.744T>G (p.Ile248Met)	CCT5 (I155M +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GUncertain significance
Select item 2172349	NM_012073.5(CCT5):c.994-5A>C	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2169962	NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr)	CCT5 (A243T +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2166023	NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)	CCT5 (A207T +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2162964	NM_012073.5(CCT5):c.1498+15C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2155852	NM_012073.5(CCT5):c.1317+14G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2152169	NM_012073.5(CCT5):c.1024G>A (p.Val342Ile)	CCT5 (V249I +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2150976	NM_012073.5(CCT5):c.1498+16G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2137162	NM_012073.5(CCT5):c.1236C>T (p.Leu412=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2133648	NM_012073.5(CCT5):c.769C>A (p.Pro257Thr)	CCT5 (P202T +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2112611	NM_012073.5(CCT5):c.99C>G (p.Ala33=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2082144	NM_012073.5(CCT5):c.570G>C (p.Val190=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2077973	NM_012073.5(CCT5):c.402C>T (p.Ala134=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2073344	NM_012073.5(CCT5):c.1356C>T (p.Ala452=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2065436	NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)	CCT5 (I292V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 2062494	NM_012073.5(CCT5):c.873+11C>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2061767	NM_012073.5(CCT5):c.516G>A (p.Thr172=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2054506	NM_012073.5(CCT5):c.166+19G>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2052973	NM_012073.5(CCT5):c.332-14T>C	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2042103	NM_012073.5(CCT5):c.106-12T>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2041557	NM_012073.5(CCT5):c.924T>C (p.Asp308=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 2024345	NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?)	CCT5	Duplication (frameshift variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1990754	NM_012073.5(CCT5):c.166+14A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1989857	NM_012073.5(CCT5):c.1322C>A (p.Pro441His)	CCT5 (P420H +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1976493	NM_012073.5(CCT5):c.480G>C (p.Lys160Asn)	CCT5 (K160N +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1969257	NM_012073.5(CCT5):c.33A>G (p.Glu11=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1958943	NM_012073.5(CCT5):c.1290C>T (p.Ala430=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1954243	NM_012073.5(CCT5):c.1291C>T (p.Leu431=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1952803	NM_012073.5(CCT5):c.57C>G (p.Ile19Met)	CCT5 (I19M)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1918121	NM_012073.5(CCT5):c.382A>G (p.Ile128Val)	CCT5 (I73V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1802575	NM_012073.5(CCT5):c.670C>G (p.Leu224Val)	CCT5 (L224V +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely pathogenic
Select item 1721776	NM_012073.5(CCT5):c.1571T>C (p.Val524Ala)	CCT5 (V431A +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1719185	NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)	CCT5 (K139E +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1675971	NM_012073.5(CCT5):c.759T>C (p.Cys253=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1674035	NM_012073.5(CCT5):c.332-17T>C	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1654773	NM_012073.5(CCT5):c.1499-20A>G	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1650302	NM_012073.5(CCT5):c.993+14C>T	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1634156	NM_012073.5(CCT5):c.332-19_332-16del	CCT5	Deletion (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GBenign
Select item 1614564	NM_012073.5(CCT5):c.1623A>G (p.Glu541=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1567686	NM_012073.5(CCT5):c.36T>C (p.Tyr12=)	CCT5	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1553796	NM_012073.5(CCT5):c.874-16G>T	CCT5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1528155	NM_012073.5(CCT5):c.648C>T (p.Gly216=)	CCT5	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1528105	NM_012073.5(CCT5):c.1499-14C>A	CCT5	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GLikely benign
Select item 1517172	NM_012073.5(CCT5):c.1379T>C (p.Met460Thr)	CCT5 (M367T +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1476830	NM_012073.5(CCT5):c.577G>A (p.Val193Ile)	CCT5 (V155I +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1445881	NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly)	CCT5 (E371G +4 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance
Select item 1441920	NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu)	CCT5 (R345L +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1407767	NM_012073.5(CCT5):c.122C>G (p.Ala41Gly)	CCT5 (A20G +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy with spastic paraplegia	GUncertain significance

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