HSF1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 792118	NM_005526.4(HSF1):c.72C>A (p.Thr24=)	HSF1, LOC130001381	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2279874	NM_005526.4(HSF1):c.94G>A (p.Asp32Asn)	HSF1, LOC130001381 (D32N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107194	NM_005526.4(HSF1):c.104T>C (p.Ile35Thr)	HSF1, LOC130001381 (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468685	NM_005526.4(HSF1):c.317G>A (p.Arg106His)	HSF1 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617225	NM_005526.4(HSF1):c.356T>G (p.Val119Gly)	HSF1 (V119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725807	NM_005526.4(HSF1):c.429C>T (p.Asp143=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107198	NM_005526.4(HSF1):c.461T>C (p.Met154Thr)	HSF1 (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262343	NM_005526.4(HSF1):c.478G>A (p.Ala160Thr)	HSF1 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107199	NM_005526.4(HSF1):c.481A>G (p.Met161Val)	HSF1 (M161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260355	NM_005526.4(HSF1):c.517G>A (p.Ala173Thr)	HSF1 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474448	NM_005526.4(HSF1):c.556G>A (p.Val186Ile)	HSF1 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554703	NM_005526.4(HSF1):c.677G>T (p.Ser226Ile)	HSF1 (S226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761262	NM_005526.4(HSF1):c.711G>A (p.Ser237=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477977	NM_005526.4(HSF1):c.745A>G (p.Ser249Gly)	HSF1 (S249G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107200	NM_005526.4(HSF1):c.751A>G (p.Ser251Gly)	HSF1 (S251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107201	NM_005526.4(HSF1):c.911C>T (p.Pro304Leu)	HSF1 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277368	NM_005526.4(HSF1):c.926G>A (p.Arg309Gln)	HSF1 (R309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225362	NM_005526.4(HSF1):c.936G>T (p.Glu312Asp)	HSF1 (E312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284886	NM_005526.4(HSF1):c.946G>A (p.Gly316Arg)	HSF1 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658978	NM_005526.4(HSF1):c.960C>T (p.Ser320=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107202	NM_005526.4(HSF1):c.979C>T (p.Pro327Ser)	HSF1 (P327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456465	NM_005526.4(HSF1):c.1027G>A (p.Ala343Thr)	HSF1 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107195	NM_005526.4(HSF1):c.1209C>A (p.Ser403Arg)	HSF1 (S403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308554	NM_005526.4(HSF1):c.1235G>A (p.Ser412Asn)	HSF1 (S412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255894	NM_005526.4(HSF1):c.1297G>A (p.Asp433Asn)	HSF1 (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381242	NM_005526.4(HSF1):c.1331C>T (p.Ser444Phe)	HSF1 (S444F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624339	NM_005526.4(HSF1):c.1365G>T (p.Glu455Asp)	HSF1 (E455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545130	NM_005526.4(HSF1):c.1432C>G (p.Pro478Ala)	HSF1 (P478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256874	NM_005526.4(HSF1):c.1436G>C (p.Gly479Ala)	HSF1 (G479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107196	NM_005526.4(HSF1):c.1450G>A (p.Gly484Arg)	HSF1 (G484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250500	NM_005526.4(HSF1):c.1488G>C (p.Glu496Asp)	HSF1 (E496D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107197	NM_005526.4(HSF1):c.1522G>A (p.Glu508Lys)	HSF1 (E508K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GSDMC, LY6D +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	DGAT1, EEF1D +52 more	Deletion	Epidermolysis bullosa simplex with nail dystrophy +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	ADCK5, CPSF1 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815179	GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3	ADCK5, BOP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	CYC1, DGAT1 +28 more	Duplication	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	OPLAH, PARP10 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394800	GRCh37/hg19 8q24.3(chr8:145487123-145554934)x3	BOP1, DGAT1 +2 more	Copy number gain	See cases	GLikely benign
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic

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Items: 100