HSPA9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	LOC111828524, LOC112267934 +1674 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994780, LOC129994781 +1158 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	SNORD63, SNORD63B +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 4311498	NM_004134.7(HSPA9):c.*959T>G	HSPA9	Single nucleotide variant (3 prime UTR variant)	Not Specified
Select item 2305841	NM_004134.7(HSPA9):c.2017G>C (p.Asp673His)	HSPA9 (D673H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3891361	NM_004134.7(HSPA9):c.1994C>A (p.Ser665Tyr)	HSPA9 (S665Y)	Single nucleotide variant (missense variant)	Even-plus syndrome +1 more	GUncertain significance
Select item 2214851	NM_004134.7(HSPA9):c.1976G>A (p.Arg659Gln)	HSPA9 (R659Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4272653	NM_004134.7(HSPA9):c.1973A>T (p.Glu658Val)	HSPA9 (E658V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107359	NM_004134.7(HSPA9):c.1973A>G (p.Glu658Gly)	HSPA9 (E658G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311499	NM_004134.7(HSPA9):c.1963-8C>G	HSPA9	Single nucleotide variant (intron variant)	Not Specified
Select item 4311500	NM_004134.7(HSPA9):c.1962+1G>A	HSPA9	Single nucleotide variant (splice donor variant)	Not Specified
Select item 2655725	NM_004134.7(HSPA9):c.1944C>T (p.Phe648=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285357	NM_004134.7(HSPA9):c.1933C>T (p.Leu645=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3052197	NM_004134.7(HSPA9):c.1914C>T (p.Ser638=)	HSPA9	Single nucleotide variant (synonymous variant)	HSPA9-related disorder	GLikely benign
Select item 788988	NM_004134.7(HSPA9):c.1881C>T (p.Ser627=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3858942	NM_004134.7(HSPA9):c.1871G>A (p.Arg624Lys)	HSPA9 (R624K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491619	NM_004134.7(HSPA9):c.1865T>C (p.Leu622Pro)	HSPA9 (L622P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4272651	NM_004134.7(HSPA9):c.1823G>A (p.Cys608Tyr)	HSPA9 (C608Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311501	NM_004134.7(HSPA9):c.1822-11C>G	HSPA9	Single nucleotide variant (intron variant)	Not Specified
Select item 2257947	NM_004134.7(HSPA9):c.1813G>T (p.Ala605Ser)	HSPA9 (A605S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036632	NM_004134.7(HSPA9):c.1775C>G (p.Thr592Arg)	HSPA9 (T592R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324551	NM_004134.7(HSPA9):c.1728+2T>G	HSPA9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2285945	NM_004134.7(HSPA9):c.1721G>A (p.Arg574Gln)	HSPA9 (R574Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733831	NM_004134.7(HSPA9):c.1719G>C (p.Arg573=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3858940	NM_004134.7(HSPA9):c.1672A>G (p.Ile558Val)	HSPA9 (I558V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526959	NM_004134.7(HSPA9):c.1624G>A (p.Glu542Lys)	HSPA9 (E542K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036636	NM_004134.7(HSPA9):c.1621C>T (p.Arg541Cys)	HSPA9 (R541C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311502	NM_004134.7(HSPA9):c.1601C>G (p.Ala534Gly)	HSPA9 (A534G)	Single nucleotide variant (missense variant)	Not Specified
Select item 3526953	NM_004134.7(HSPA9):c.1538G>A (p.Arg513His)	HSPA9 (R513H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044937	NM_004134.7(HSPA9):c.1516-7A>C	HSPA9	Single nucleotide variant (intron variant)	HSPA9-related disorder	GLikely benign
Select item 4288997	NM_004134.7(HSPA9):c.1516-10_1516-8del	HSPA9	Deletion (intron variant)	Not Specified
Select item 799742	NM_004134.7(HSPA9):c.1516-9T>G	HSPA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 786063	NM_004134.7(HSPA9):c.1515+7del	HSPA9	Deletion (intron variant)	not provided	GBenign
Select item 743030	NM_004134.7(HSPA9):c.1509T>C (p.Phe503=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284956	NM_004134.7(HSPA9):c.1505A>G (p.Gln502Arg)	HSPA9 (Q502R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526957	NM_004134.7(HSPA9):c.1483G>A (p.Gly495Arg)	HSPA9 (G495R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036627	NM_004134.7(HSPA9):c.1439C>T (p.Thr480Met)	HSPA9 (T480M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311503	NM_004134.7(HSPA9):c.1428T>A (p.Ala476=)	HSPA9	Single nucleotide variant (synonymous variant)	Not Specified
Select item 430651	NM_004134.7(HSPA9):c.1426G>A (p.Ala476Thr)	HSPA9 (A476T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4311504	NM_004134.7(HSPA9):c.1410+205C>G	HSPA9	Single nucleotide variant (intron variant)	Not Specified
Select item 755721	NM_004134.7(HSPA9):c.1401G>A (p.Lys467=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224070	NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)	HSPA9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2673029	NM_004134.7(HSPA9):c.1347T>C (p.Thr449=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316569	NM_004134.7(HSPA9):c.1330T>A (p.Ser444Thr)	HSPA9 (S444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311505	NM_004134.7(HSPA9):c.1273G>T (p.Gly425Ter)	HSPA9 (G425*)	Single nucleotide variant (nonsense)	Not Specified
Select item 2544448	NM_004134.7(HSPA9):c.1250T>C (p.Val417Ala)	HSPA9 (V417A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4272646	NM_004134.7(HSPA9):c.1216G>T (p.Ala406Ser)	HSPA9 (A406S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036630	NM_004134.7(HSPA9):c.1210G>C (p.Gly404Arg)	HSPA9 (G404R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3858944	NM_004134.7(HSPA9):c.1196T>C (p.Val399Ala)	HSPA9 (V399A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311507	NM_004134.7(HSPA9):c.1182+5G>A	HSPA9	Single nucleotide variant (intron variant)	Not Specified
Select item 2465118	NM_004134.7(HSPA9):c.1178C>G (p.Pro393Arg)	HSPA9 (P393R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 4272649	NM_004134.7(HSPA9):c.1174A>G (p.Met392Val)	HSPA9 (M392V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4311508	NM_004134.7(HSPA9):c.1164C>T (p.Gly388=)	HSPA9	Single nucleotide variant (synonymous variant)	Not Specified
Select item 779888	NM_004134.7(HSPA9):c.1155T>C (p.Leu385=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3526958	NM_004134.7(HSPA9):c.1150A>T (p.Ile384Phe)	HSPA9 (I384F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107358	NM_004134.7(HSPA9):c.1090G>A (p.Ala364Thr)	HSPA9 (A364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3858943	NM_004134.7(HSPA9):c.1070A>C (p.Asp357Ala)	HSPA9 (D357A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354841	NM_004134.7(HSPA9):c.1064T>C (p.Val355Ala)	HSPA9 (V355A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520213	NM_004134.7(HSPA9):c.1049A>G (p.Gln350Arg)	HSPA9 (Q350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4272650	NM_004134.7(HSPA9):c.1027A>G (p.Asn343Asp)	HSPA9 (N343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036629	NM_004134.7(HSPA9):c.983A>G (p.Asn328Ser)	HSPA9 (N328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107362	NM_004134.7(HSPA9):c.967G>A (p.Val323Met)	HSPA9 (V323M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 870215	NM_004134.7(HSPA9):c.955C>T (p.Leu319Phe)	HSPA9 (L319F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3771332	NM_004134.7(HSPA9):c.939A>G (p.Glu313=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4311509	NM_004134.7(HSPA9):c.928G>T (p.Glu310Ter)	HSPA9 (E310*)	Single nucleotide variant (nonsense)	Not Specified
Select item 224330	NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)	HSPA9	Deletion (frameshift variant)	HSPA9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 770913	NM_004134.7(HSPA9):c.872_879+9dup	HSPA9	Duplication (splice donor variant)	not provided	GBenign
Select item 3858941	NM_004134.7(HSPA9):c.847C>A (p.Leu283Ile)	HSPA9 (L283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870216	NM_004134.7(HSPA9):c.818T>G (p.Leu273Ter)	HSPA9 (L273*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778215	NM_004134.7(HSPA9):c.774G>A (p.Gln258=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749716	NM_004134.7(HSPA9):c.771T>C (p.Ile257=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038859	NM_004134.7(HSPA9):c.717-6T>A	HSPA9	Single nucleotide variant (intron variant)	HSPA9-related disorder	GLikely benign
Select item 1285358	NM_004134.7(HSPA9):c.717-17del	HSPA9	Deletion (intron variant)	Even-plus syndrome	GBenign
Select item 3069021	NM_004134.7(HSPA9):c.662A>G (p.Asn221Ser)	HSPA9 (N221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292207	NM_004134.7(HSPA9):c.649C>T (p.Leu217Phe)	HSPA9 (L217F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526956	NM_004134.7(HSPA9):c.638G>A (p.Gly213Glu)	HSPA9 (G213E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738369	NM_004134.7(HSPA9):c.636T>C (p.Ser212=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4036637	NM_004134.7(HSPA9):c.614C>T (p.Thr205Ile)	HSPA9 (T205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3777813	NM_004134.7(HSPA9):c.599C>T (p.Ser200Leu)	HSPA9 (S200L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2247922	NM_004134.7(HSPA9):c.593A>G (p.Asn198Ser)	HSPA9 (N198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526954	NM_004134.7(HSPA9):c.547G>C (p.Gly183Arg)	HSPA9 (G183R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246252	NM_004134.7(HSPA9):c.520A>G (p.Met174Val)	HSPA9 (M174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743494	NM_004134.7(HSPA9):c.516G>A (p.Met172Ile)	HSPA9 (M172I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718997	NM_004134.7(HSPA9):c.489G>A (p.Pro163=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736861	NM_004134.7(HSPA9):c.478T>C (p.Leu160=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4311510	NM_004134.7(HSPA9):c.446A>G (p.Asn149Ser)	HSPA9 (N149S)	Single nucleotide variant (missense variant)	Not Specified
Select item 4036628	NM_004134.7(HSPA9):c.440C>T (p.Ala147Val)	HSPA9 (A147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224069	NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)	HSPA9	Deletion (nonsense)	Autosomal dominant sideroblastic anemia	GPathogenic
Select item 3284957	NM_004134.7(HSPA9):c.402G>C (p.Gln134His)	HSPA9 (Q134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224329	NM_004134.7(HSPA9):c.383A>G (p.Tyr128Cys)	HSPA9 (Y128C)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic
Select item 3107361	NM_004134.7(HSPA9):c.380G>A (p.Arg127Gln)	HSPA9 (R127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4272648	NM_004134.7(HSPA9):c.377G>A (p.Arg126Gln)	HSPA9 (R126Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224328	NM_004134.7(HSPA9):c.376C>T (p.Arg126Trp)	HSPA9 (R126W)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic
Select item 3898399	NM_004134.7(HSPA9):c.347C>T (p.Thr116Ile)	HSPA9 (T116I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 4272647	NM_004134.7(HSPA9):c.344A>G (p.Asn115Ser)	HSPA9 (N115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4036634	NM_004134.7(HSPA9):c.337C>G (p.Pro113Ala)	HSPA9 (P113A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012524	NM_004134.7(HSPA9):c.320G>A (p.Arg107Gln)	HSPA9 (R107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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