"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HSPD1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458207	Single allele	HSPD1	Duplication	Spastic paraplegia	GUncertain significance
Select item 1256095	NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1])	HSPD1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 410975	NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)	HSPD1 (G571V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1415601	NM_002156.5(HSPD1):c.1702A>G (p.Met568Val)	HSPD1 (M568V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2083046	NM_002156.5(HSPD1):c.1701T>C (p.Gly567=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 410973	NM_002156.5(HSPD1):c.1689_1700dup (p.565GGGM[3])	HSPD1	Duplication (inframe_insertion)	Spastic paraplegia	GLikely benign
Select item 137563	NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)	HSPD1 (G563A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 800207	NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)	HSPD1 (M561V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	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 2909180	NM_002156.5(HSPD1):c.1661A>T (p.Lys554Met)	HSPD1 (K554M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1972246	NM_002156.5(HSPD1):c.1651A>G (p.Lys551Glu)	HSPD1 (K551E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1111144	NM_002156.5(HSPD1):c.1614G>C (p.Leu538=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1962349	NM_002156.5(HSPD1):c.1612C>T (p.Leu538=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 216941	NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)	HSPD1 (A536V)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 2148068	NM_002156.5(HSPD1):c.1585T>C (p.Leu529=)	HSPD1	Single nucleotide variant (synonymous 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 1574083	NM_002156.5(HSPD1):c.1570-16_1570-13del	HSPD1	Microsatellite (intron variant)	Spastic paraplegia	GBenign
Select item 2030754	NM_002156.5(HSPD1):c.1569+19T>G	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 2022596	NM_002156.5(HSPD1):c.1569+10T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
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 1476590	NM_002156.5(HSPD1):c.1556T>C (p.Ile519Thr)	HSPD1 (I519T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1354757	NM_002156.5(HSPD1):c.1542G>A (p.Val514=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	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 1986408	NM_002156.5(HSPD1):c.1497A>C (p.Ser499=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 390700	NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1357217	NM_002156.5(HSPD1):c.1474G>C (p.Glu492Gln)	HSPD1 (E492Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 392132	NM_002156.5(HSPD1):c.1464T>C (p.Ser488=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
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 1438035	NM_002156.5(HSPD1):c.1461A>T (p.Gly487=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 333306	NM_002156.5(HSPD1):c.1446T>C (p.Asn482=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign
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 2753545	NM_002156.5(HSPD1):c.1434C>T (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 895970	NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely 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 1562546	NM_002156.5(HSPD1):c.1413A>G (p.Thr471=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 799511	NM_002156.5(HSPD1):c.1401T>C (p.Ile467=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 458227	NM_002156.5(HSPD1):c.1393A>G (p.Ile465Val)	HSPD1 (I465V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2196128	NM_002156.5(HSPD1):c.1392T>C (p.Gly464=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2002265	NM_002156.5(HSPD1):c.1391-12A>G	HSPD1	Single nucleotide variant (intron 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
Select item 2713009	NM_002156.5(HSPD1):c.1391-17C>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1916878	NM_002156.5(HSPD1):c.1390+15T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1574154	NM_002156.5(HSPD1):c.1390+11dup	HSPD1	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 239102	NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +4 more	GBenign
Select item 527986	NM_002156.5(HSPD1):c.1324T>C (p.Cys442Arg)	HSPD1 (C442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1016855	NM_002156.5(HSPD1):c.1294G>A (p.Val432Ile)	HSPD1 (V432I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1335435	NM_002156.5(HSPD1):c.1272C>T (p.Ala424=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 527982	NM_002156.5(HSPD1):c.1219G>A (p.Gly407Ser)	HSPD1 (G407S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137562	NM_002156.5(HSPD1):c.1216-9C>T	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1389969	NM_002156.5(HSPD1):c.1215+17T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 333307	NM_002156.5(HSPD1):c.1207G>A (p.Val403Met)	HSPD1 (V403M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	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 1721295	NM_002156.5(HSPD1):c.1186A>G (p.Lys396Glu)	HSPD1 (K396E)	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 1962148	NM_002156.5(HSPD1):c.1175A>G (p.Glu392Gly)	HSPD1 (E392G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1907642	NM_002156.5(HSPD1):c.1157A>C (p.Glu386Ala)	HSPD1 (E386A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 137561	NM_002156.5(HSPD1):c.1140C>T (p.Val380=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 3013638	NM_002156.5(HSPD1):c.1109G>A (p.Arg370His)	HSPD1 (R370H)	Single nucleotide variant (missense 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 2841608	NM_002156.5(HSPD1):c.1089C>G (p.Asp363Glu)	HSPD1 (D363E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1489606	NM_002156.5(HSPD1):c.1068G>A (p.Met356Ile)	HSPD1 (M356I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1485089	NM_002156.5(HSPD1):c.1067T>G (p.Met356Arg)	HSPD1 (M356R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2740379	NM_002156.5(HSPD1):c.1059C>T (p.Asp353=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 897576	NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +1 more	GConflicting classifications of pathogenicity
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 1344351	NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile)	HSPD1 (V337I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1385017	NM_002156.5(HSPD1):c.1003G>A (p.Glu335Lys)	HSPD1 (E335K)	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 512546	NM_002156.5(HSPD1):c.970-6T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	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 2186818	NM_002156.5(HSPD1):c.970-16T>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2908536	NM_002156.5(HSPD1):c.969+18G>A	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 2697452	NM_002156.5(HSPD1):c.968C>G (p.Ala323Gly)	HSPD1 (A323G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
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 704666	NM_002156.5(HSPD1):c.939T>C (p.Leu313=)	HSPD1	Single nucleotide variant (synonymous 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 2766733	NM_002156.5(HSPD1):c.924T>C (p.Asn308=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1026250	NM_002156.5(HSPD1):c.881G>A (p.Gly294Asp)	HSPD1 (G294D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 410974	NM_002156.5(HSPD1):c.871C>G (p.Leu291Val)	HSPD1 (L291V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 747547	NM_002156.5(HSPD1):c.870-5A>G	HSPD1	Single nucleotide variant (intron variant)	not provided	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 333308	NM_002156.5(HSPD1):c.869+12T>C	HSPD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13 +1 more	GConflicting classifications of pathogenicity
Select item 1985744	NM_002156.5(HSPD1):c.869+10A>T	HSPD1	Single nucleotide variant (intron 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 955295	NM_002156.5(HSPD1):c.869+4A>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2051895	NM_002156.5(HSPD1):c.858C>T (p.Leu286=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 697891	NM_002156.5(HSPD1):c.855A>T (p.Thr285=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1345923	NM_002156.5(HSPD1):c.823G>A (p.Ala275Thr)	HSPD1 (A275T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 700160	NM_002156.5(HSPD1):c.819A>T (p.Ile273=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1962802	NM_002156.5(HSPD1):c.815T>C (p.Val272Ala)	HSPD1 (V272A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 188178	NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)	HSPD1 (N265S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 701949	NM_002156.5(HSPD1):c.750A>G (p.Lys250=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
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 377970	NM_002156.5(HSPD1):c.732T>G (p.Val244=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 1615114	NM_002156.5(HSPD1):c.729T>C (p.Tyr243=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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