HSPB7[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3107377	NM_014424.5(HSPB7):c.494G>A (p.Arg165Gln)	HSPB7 (R159Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387304	NM_014424.5(HSPB7):c.493C>T (p.Arg165Trp)	HSPB7 (R151W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400869	NM_014424.5(HSPB7):c.464C>T (p.Pro155Leu)	HSPB7 (P155L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107376	NM_014424.5(HSPB7):c.458G>A (p.Arg153His)	HSPB7 (R139H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535004	NM_014424.5(HSPB7):c.448C>T (p.Arg150Trp)	HSPB7 (R136W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254117	NM_014424.5(HSPB7):c.442A>G (p.Thr148Ala)	HSPB7 (T148A +7 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 3284963	NM_014424.5(HSPB7):c.425G>C (p.Arg142Pro)	HSPB7 (R128P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787740	NM_014424.5(HSPB7):c.387G>A (p.Pro129=)	HSPB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2403639	NM_014424.5(HSPB7):c.368C>T (p.Ala123Val)	HSPB7 (A118V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541351	NM_014424.5(HSPB7):c.364T>C (p.Phe122Leu)	HSPB7 (F127L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107375	NM_014424.5(HSPB7):c.352G>A (p.Val118Ile)	HSPB7 (V112I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279836	NM_014424.5(HSPB7):c.325G>A (p.Ala109Thr)	HSPB7 (A103T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560139	NM_014424.5(HSPB7):c.322C>T (p.Arg108Trp)	HSPB7 (R112W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310926	NM_014424.5(HSPB7):c.254C>T (p.Ala85Val)	HSPB7 (A160V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284962	NM_014424.5(HSPB7):c.212G>A (p.Gly71Glu)	HSPB7 (G75E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787741	NM_014424.5(HSPB7):c.152A>G (p.Asp51Gly)	HSPB7 (D126G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787742	NM_014424.5(HSPB7):c.151G>A (p.Asp51Asn)	HSPB7 (D126N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284961	NM_014424.5(HSPB7):c.149A>C (p.Asp50Ala)	HSPB7 (D125A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300109	NM_014424.5(HSPB7):c.134T>C (p.Leu45Pro)	HSPB7 (L120P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107374	NM_014424.5(HSPB7):c.116C>T (p.Pro39Leu)	HSPB7 (P114L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107373	NM_014424.5(HSPB7):c.101T>C (p.Leu34Pro)	HSPB7 (L34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107378	NM_014424.5(HSPB7):c.86C>T (p.Ser29Leu)	HSPB7 (S29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 565079	GRCh37/hg19 1p36.13(chr1:16344099-16403711)x1	CLCNKA, CLCNKB +2 more	Copy number loss	not provided	GUncertain significance
Select item 565078	GRCh37/hg19 1p36.13(chr1:16344099-16389405)x1	FAM131C, CLCNKB +2 more	Copy number loss	not provided	GUncertain significance
Select item 565077	GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3	HSPB7, ZBTB17 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 51