ClinVar for Gene (Select 3329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343254	NM_002156.5(HSPD1):c.1607C>G (p.Ala536Gly)	HSPD1 (A536G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340237	NM_002156.5(HSPD1):c.1625C>G (p.Ala542Gly)	HSPD1 (A542G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338749	NM_002156.5(HSPD1):c.1658A>G (p.Glu553Gly)	HSPD1 (E553G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239512	NM_002156.5(HSPD1):c.1215+1G>A	HSPD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3107398	NM_002156.5(HSPD1):c.268T>C (p.Tyr90His)	HSPD1 (Y90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107397	NM_002156.5(HSPD1):c.121C>T (p.Leu41Phe)	HSPD1 (L41F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3050846	NM_002156.5(HSPD1):c.477T>G (p.Ser159=)	HSPD1	Single nucleotide variant (synonymous variant)	HSPD1-related disorder	GLikely benign
Select item 3013638	NM_002156.5(HSPD1):c.1109G>A (p.Arg370His)	HSPD1 (R370H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3007952	NM_002156.5(HSPD1):c.1180C>T (p.Leu394Phe)	HSPD1 (L394F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2992770	NM_002156.5(HSPD1):c.132A>G (p.Val44=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2989452	NM_002156.5(HSPD1):c.510+20C>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2974425	NM_002156.5(HSPD1):c.929A>G (p.Lys310Arg)	HSPD1 (K310R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2964031	NM_002156.5(HSPD1):c.510+14A>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2957531	NM_002156.5(HSPD1):c.1569+11G>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2909180	NM_002156.5(HSPD1):c.1661A>T (p.Lys554Met)	HSPD1 (K554M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2908536	NM_002156.5(HSPD1):c.969+18G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2882695	NM_002156.5(HSPD1):c.754T>G (p.Ser252Ala)	HSPD1 (S252A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2882282	NM_002156.5(HSPD1):c.518C>T (p.Thr173Met)	HSPD1 (T173M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2867031	NM_002156.5(HSPD1):c.175-18T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2863309	NM_002156.5(HSPD1):c.36A>G (p.Arg12=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2854228	NM_002156.5(HSPD1):c.663A>C (p.Arg221=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2841608	NM_002156.5(HSPD1):c.1089C>G (p.Asp363Glu)	HSPD1 (D363E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2808615	NM_002156.5(HSPD1):c.576A>G (p.Lys192=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2781995	NM_002156.5(HSPD1):c.594C>T (p.Val198=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2781994	NM_002156.5(HSPD1):c.869+8G>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2769773	NM_002156.5(HSPD1):c.120G>C (p.Met40Ile)	HSPD1 (M40I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2766733	NM_002156.5(HSPD1):c.924T>C (p.Asn308=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2753545	NM_002156.5(HSPD1):c.1434C>T (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2740379	NM_002156.5(HSPD1):c.1059C>T (p.Asp353=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2726003	NM_002156.5(HSPD1):c.1676G>A (p.Gly559Asp)	HSPD1 (G559D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2721422	NM_002156.5(HSPD1):c.668A>G (p.Tyr223Cys)	HSPD1 (Y223C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2720696	NM_002156.5(HSPD1):c.1565C>G (p.Thr522Arg)	HSPD1 (T522R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2713009	NM_002156.5(HSPD1):c.1391-17C>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2707471	NM_002156.5(HSPD1):c.122T>C (p.Leu41Pro)	HSPD1 (L41P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2700176	NM_002156.5(HSPD1):c.12A>T (p.Leu4Phe)	HSPD1 (L4F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2699962	NM_002156.5(HSPD1):c.747G>T (p.Lys249Asn)	HSPD1 (K249N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2697452	NM_002156.5(HSPD1):c.968C>G (p.Ala323Gly)	HSPD1 (A323G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2693833	NM_002156.5(HSPD1):c.1462T>A (p.Ser488Thr)	HSPD1 (S488T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2684232	NM_002156.5(HSPD1):c.183A>G (p.Thr61=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682605	NM_002156.5(HSPD1):c.*16T>C	HSPD1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2662680	NM_002156.5(HSPD1):c.311A>G (p.Asn104Ser)	HSPD1 (N104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651795	NM_002156.5(HSPD1):c.489C>T (p.Thr163=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651794	NM_002156.5(HSPD1):c.728A>G (p.Tyr243Cys)	HSPD1 (Y243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637839	NM_002156.5(HSPD1):c.323A>C (p.Glu108Ala)	HSPD1 (E108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633904	NM_002156.5(HSPD1):c.1612_1613del (p.Leu538fs)	HSPD1 (L538fs)	Microsatellite (frameshift variant)	HSPD1-related disorder	GUncertain significance
Select item 2630153	NM_002156.5(HSPD1):c.188T>C (p.Ile63Thr)	HSPD1 (I63T)	Single nucleotide variant (missense variant)	HSPD1-related disorder	GLikely pathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2577368	NM_002156.5(HSPD1):c.946A>G (p.Met316Val)	HSPD1 (M316V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2574536	NM_002156.5(HSPD1):c.47G>T (p.Arg16Met)	HSPD1 (R16M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573487	NM_002156.5(HSPD1):c.1679_1687del (p.Ala560_Gly562del)	HSPD1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 2558450	NM_002156.5(HSPD1):c.272A>G (p.Lys91Arg)	HSPD1 (K91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530675	NM_002156.5(HSPD1):c.205G>A (p.Gly69Arg)	HSPD1 (G69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530497	NM_002156.5(HSPD1):c.1099A>G (p.Ile367Val)	HSPD1 (I367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432543	NM_002156.5(HSPD1):c.1253A>C (p.Lys418Thr)	HSPD1 (K418T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424360	NC_000002.11:g.(?_198351770)_(198351942_?)dup	HSPD1	Duplication	Spastic paraplegia	GUncertain significance
Select item 2419910	NM_002156.5(HSPD1):c.649A>G (p.Met217Val)	HSPD1 (M217V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2413378	NM_002156.5(HSPD1):c.366T>A (p.Ser122=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2198957	NM_002156.5(HSPD1):c.1443G>C (p.Lys481Asn)	HSPD1 (K481N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2198569	NM_002156.5(HSPD1):c.427+16G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2196128	NM_002156.5(HSPD1):c.1392T>C (p.Gly464=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2189911	NM_002156.5(HSPD1):c.1224G>A (p.Gly408=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2186818	NM_002156.5(HSPD1):c.970-16T>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2185788	NM_002156.5(HSPD1):c.623A>C (p.Asn208Thr)	HSPD1 (N208T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2171748	NM_002156.5(HSPD1):c.428-20G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2167563	NM_002156.5(HSPD1):c.174+7G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2167562	NM_002156.5(HSPD1):c.427+9G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2167561	NM_002156.5(HSPD1):c.1570-12A>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2154975	NM_002156.5(HSPD1):c.678A>G (p.Pro226=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2152372	NM_002156.5(HSPD1):c.607-3T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2148069	NM_002156.5(HSPD1):c.1090A>G (p.Lys364Glu)	HSPD1 (K364E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2148068	NM_002156.5(HSPD1):c.1585T>C (p.Leu529=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2143895	NM_002156.5(HSPD1):c.110G>A (p.Arg37Gln)	HSPD1 (R37Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2141852	NM_002156.5(HSPD1):c.491C>T (p.Thr164Ile)	HSPD1 (T164I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2137083	NM_002156.5(HSPD1):c.61C>G (p.His21Asp)	HSPD1 (H21D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2132168	NM_002156.5(HSPD1):c.994C>T (p.Leu332=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2130270	NM_002156.5(HSPD1):c.970-9T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2121364	NM_002156.5(HSPD1):c.869+18T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2120650	NM_002156.5(HSPD1):c.969+17T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2083046	NM_002156.5(HSPD1):c.1701T>C (p.Gly567=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2071731	NM_002156.5(HSPD1):c.607-7T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2061355	NM_002156.5(HSPD1):c.700+15A>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2059528	NM_002156.5(HSPD1):c.498A>T (p.Glu166Asp)	HSPD1 (E166D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2057380	NM_002156.5(HSPD1):c.1130A>G (p.Gln377Arg)	HSPD1 (Q377R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2053604	NM_002156.5(HSPD1):c.606+5GT[2]	HSPD1	Microsatellite (intron variant)	Spastic paraplegia	GLikely benign
Select item 2051895	NM_002156.5(HSPD1):c.858C>T (p.Leu286=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2051309	NM_002156.5(HSPD1):c.467A>G (p.Lys156Arg)	HSPD1 (K156R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2045971	NM_002156.5(HSPD1):c.1189C>G (p.Leu397Val)	HSPD1 (L397V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2030754	NM_002156.5(HSPD1):c.1569+19T>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2022596	NM_002156.5(HSPD1):c.1569+10T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2017924	NM_002156.5(HSPD1):c.1429A>G (p.Met477Val)	HSPD1 (M477V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2014241	NM_002156.5(HSPD1):c.238G>A (p.Val80Ile)	HSPD1 (V80I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2005420	NM_002156.5(HSPD1):c.1530T>A (p.Phe510Leu)	HSPD1 (F510L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2002265	NM_002156.5(HSPD1):c.1391-12A>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1993628	NM_002156.5(HSPD1):c.1022A>C (p.Asp341Ala)	HSPD1 (D341A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1986408	NM_002156.5(HSPD1):c.1497A>C (p.Ser499=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1985744	NM_002156.5(HSPD1):c.869+10A>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1982165	NM_002156.5(HSPD1):c.253G>T (p.Asp85Tyr)	HSPD1 (D85Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1980847	NM_002156.5(HSPD1):c.623A>G (p.Asn208Ser)	HSPD1 (N208S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1980034	NM_002156.5(HSPD1):c.1391-15G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign

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