HSPA6[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 57816	GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3	FCGR2A, FCGR2B +13 more	Copy number gain	See cases	GUncertain significance
Select item 156760	NM_002155.4(HSPA6):c.-1862_*5145del	FCGR2A, HSPA6 +4 more	Deletion	Small for gestational age	Gnot provided
Select item 2223383	NM_002155.5(HSPA6):c.29G>C (p.Gly10Ala)	HSPA6 (G10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107352	NM_002155.5(HSPA6):c.38T>C (p.Leu13Pro)	HSPA6 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354578	NM_002155.5(HSPA6):c.43A>G (p.Thr15Ala)	HSPA6 (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319587	NM_002155.5(HSPA6):c.110A>G (p.Asn37Ser)	HSPA6 (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324222	NM_002155.5(HSPA6):c.112C>A (p.Arg38Ser)	HSPA6 (R38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566639	NM_002155.5(HSPA6):c.121C>A (p.Pro41Thr)	HSPA6 (P41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639512	NM_002155.5(HSPA6):c.147C>G (p.Thr49=)	HSPA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605298	NM_002155.5(HSPA6):c.224T>G (p.Leu75Arg)	HSPA6 (L75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597614	NM_002155.5(HSPA6):c.254T>C (p.Val85Ala)	HSPA6 (V85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322227	NM_002155.5(HSPA6):c.277C>A (p.Pro93Thr)	HSPA6 (P93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455324	NM_002155.5(HSPA6):c.313G>T (p.Val105Leu)	HSPA6 (V105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380773	NM_002155.5(HSPA6):c.328C>A (p.Arg110Ser)	HSPA6 (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477819	NM_002155.5(HSPA6):c.337G>A (p.Asp113Asn)	HSPA6 (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311763	NM_002155.5(HSPA6):c.344C>G (p.Thr115Arg)	HSPA6 (T115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599278	NM_002155.5(HSPA6):c.352C>G (p.Pro118Ala)	HSPA6 (P118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352415	NM_002155.5(HSPA6):c.469C>A (p.Arg157Ser)	HSPA6 (R157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107353	NM_002155.5(HSPA6):c.527A>G (p.Asn176Ser)	HSPA6 (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234232	NM_002155.5(HSPA6):c.592C>T (p.Leu198Phe)	HSPA6 (L198F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2326927	NM_002155.5(HSPA6):c.604C>G (p.Leu202Val)	HSPA6 (L202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639513	NM_002155.5(HSPA6):c.648T>C (p.Ala216=)	HSPA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107354	NM_002155.5(HSPA6):c.655T>G (p.Phe219Val)	HSPA6 (F219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387427	NM_002155.5(HSPA6):c.713G>C (p.Arg238Pro)	HSPA6 (R238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314059	NM_002155.5(HSPA6):c.741C>G (p.Phe247Leu)	HSPA6 (F247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107355	NM_002155.5(HSPA6):c.769G>A (p.Gly257Arg)	HSPA6 (G257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107356	NM_002155.5(HSPA6):c.800C>G (p.Thr267Arg)	HSPA6 (T267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595414	NM_002155.5(HSPA6):c.830C>A (p.Ser277Tyr)	HSPA6 (S277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471035	NM_002155.5(HSPA6):c.872A>G (p.Glu291Gly)	HSPA6 (E291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322046	NM_002155.5(HSPA6):c.877G>A (p.Val293Met)	HSPA6 (V293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639514	NM_002155.5(HSPA6):c.919C>T (p.Leu307=)	HSPA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399574	NM_002155.5(HSPA6):c.928G>C (p.Asp310His)	HSPA6 (D310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602899	NM_002155.5(HSPA6):c.1016T>G (p.Val339Gly)	HSPA6 (V339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107343	NM_002155.5(HSPA6):c.1021G>A (p.Gly341Ser)	HSPA6 (G341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285053	NM_002155.5(HSPA6):c.1049A>G (p.Lys350Arg)	HSPA6 (K350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347485	NM_002155.5(HSPA6):c.1072G>C (p.Gly358Arg)	HSPA6 (G358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387285	NM_002155.5(HSPA6):c.1254G>T (p.Arg418Ser)	HSPA6 (R418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107344	NM_002155.5(HSPA6):c.1283A>G (p.Gln428Arg)	HSPA6 (Q428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107345	NM_002155.5(HSPA6):c.1303G>C (p.Asp435His)	HSPA6 (D435H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782232	NM_002155.5(HSPA6):c.1309C>T (p.Gln437Ter)	HSPA6 (Q437*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3107346	NM_002155.5(HSPA6):c.1334A>G (p.Tyr445Cys)	HSPA6 (Y445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539512	NM_002155.5(HSPA6):c.1365C>A (p.Asn455Lys)	HSPA6 (N455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284622	NM_002155.5(HSPA6):c.1387C>G (p.Leu463Val)	HSPA6 (L463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107347	NM_002155.5(HSPA6):c.1394G>A (p.Gly465Asp)	HSPA6 (G465D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107348	NM_002155.5(HSPA6):c.1421C>A (p.Pro474His)	HSPA6 (P474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545131	NM_002155.5(HSPA6):c.1520A>G (p.Asn507Ser)	HSPA6 (N507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107349	NM_002155.5(HSPA6):c.1570G>A (p.Ala524Thr)	HSPA6 (A524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368499	NM_002155.5(HSPA6):c.1591G>C (p.Asp531His)	HSPA6 (D531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595787	NM_002155.5(HSPA6):c.1696G>C (p.Glu566Gln)	HSPA6 (E566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547496	NM_002155.5(HSPA6):c.1759C>G (p.Gln587Glu)	HSPA6 (Q587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211816	NM_002155.5(HSPA6):c.1796G>A (p.Arg599Lys)	HSPA6 (R599K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107350	NM_002155.5(HSPA6):c.1816C>T (p.Arg606Cys)	HSPA6 (R606C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619569	NM_002155.5(HSPA6):c.1838A>G (p.Tyr613Cys)	HSPA6 (Y613C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107351	NM_002155.5(HSPA6):c.1844G>T (p.Gly615Val)	HSPA6 (G615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320082	NM_002155.5(HSPA6):c.1904C>A (p.Thr635Asn)	HSPA6 (T635N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70