ClinVar for Gene (Select 3297) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
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 3107201	NM_005526.4(HSF1):c.911C>T (p.Pro304Leu)	HSF1 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3107199	NM_005526.4(HSF1):c.481A>G (p.Met161Val)	HSF1 (M161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3107197	NM_005526.4(HSF1):c.1522G>A (p.Glu508Lys)	HSF1 (E508K)	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 3107195	NM_005526.4(HSF1):c.1209C>A (p.Ser403Arg)	HSF1 (S403R)	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 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	NRBP2, NSMCE2 +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 2658978	NM_005526.4(HSF1):c.960C>T (p.Ser320=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2617225	NM_005526.4(HSF1):c.356T>G (p.Val119Gly)	HSF1 (V119G)	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 2545130	NM_005526.4(HSF1):c.1432C>G (p.Pro478Ala)	HSF1 (P478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2474448	NM_005526.4(HSF1):c.556G>A (p.Val186Ile)	HSF1 (V186I)	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 2456465	NM_005526.4(HSF1):c.1027G>A (p.Ala343Thr)	HSF1 (A343T)	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 2308554	NM_005526.4(HSF1):c.1235G>A (p.Ser412Asn)	HSF1 (S412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2277368	NM_005526.4(HSF1):c.926G>A (p.Arg309Gln)	HSF1 (R309Q)	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 2260355	NM_005526.4(HSF1):c.517G>A (p.Ala173Thr)	HSF1 (A173T)	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 2255894	NM_005526.4(HSF1):c.1297G>A (p.Asp433Asn)	HSF1 (D433N)	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 2225362	NM_005526.4(HSF1):c.936G>T (p.Glu312Asp)	HSF1 (E312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +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	TONSL, VPS28 +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 792118	NM_005526.4(HSF1):c.72C>A (p.Thr24=)	HSF1, LOC130001381	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761262	NM_005526.4(HSF1):c.711G>A (p.Ser237=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725807	NM_005526.4(HSF1):c.429C>T (p.Asp143=)	HSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +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
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 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 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 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 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
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 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
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 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
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 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
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 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 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 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 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

Links from Gene

Items: 100