ClinVar for Gene (Select 23640) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107396	NM_012267.5(HSPBP1):c.85G>A (p.Gly29Ser)	HSPBP1 (G29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107395	NM_012267.5(HSPBP1):c.668T>C (p.Leu223Pro)	HSPBP1 (L223P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107394	NM_012267.5(HSPBP1):c.62G>T (p.Gly21Val)	HSPBP1 (G21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107393	NM_012267.5(HSPBP1):c.512C>T (p.Thr171Met)	HSPBP1 (T171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107392	NM_012267.5(HSPBP1):c.475G>A (p.Ala159Thr)	HSPBP1 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107390	NM_012267.5(HSPBP1):c.248T>C (p.Phe83Ser)	HSPBP1 (F129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650517	NM_012267.5(HSPBP1):c.240G>A (p.Ser80=)	HSPBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596478	NM_012267.5(HSPBP1):c.239C>T (p.Ser80Leu)	HSPBP1 (S126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549351	NM_012267.5(HSPBP1):c.823C>G (p.Gln275Glu)	HSPBP1 (Q275E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543841	NM_012267.5(HSPBP1):c.569G>A (p.Arg190His)	HSPBP1 (R190H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539972	NM_012267.5(HSPBP1):c.808T>A (p.Ser270Thr)	HSPBP1 (S270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529556	NM_012267.5(HSPBP1):c.455G>A (p.Arg152Gln)	HSPBP1 (R152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481873	NM_012267.5(HSPBP1):c.49C>G (p.Pro17Ala)	HSPBP1 (P63A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465850	NM_012267.5(HSPBP1):c.1062C>G (p.Asp354Glu)	HSPBP1 (D354E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457548	NM_012267.5(HSPBP1):c.526G>A (p.Val176Met)	HSPBP1 (V176M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406166	NM_012267.5(HSPBP1):c.727G>C (p.Val243Leu)	HSPBP1 (V243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389780	NM_012267.5(HSPBP1):c.341C>T (p.Ala114Val)	HSPBP1 (A114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349811	NM_012267.5(HSPBP1):c.613C>T (p.Arg205Cys)	HSPBP1 (R205C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340544	NM_012267.5(HSPBP1):c.679C>T (p.Leu227Phe)	HSPBP1 (L227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319252	NM_012267.5(HSPBP1):c.251G>A (p.Arg84Gln)	HSPBP1 (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291387	NM_012267.5(HSPBP1):c.631G>T (p.Ala211Ser)	HSPBP1 (A211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290637	NM_012267.5(HSPBP1):c.622G>A (p.Ala208Thr)	HSPBP1 (A254T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234046	NM_012267.5(HSPBP1):c.616G>A (p.Val206Ile)	HSPBP1 (V206I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223066	NM_012267.5(HSPBP1):c.73G>T (p.Gly25Trp)	HSPBP1 (G71W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209445	NM_012267.5(HSPBP1):c.364G>C (p.Gly122Arg)	HSPBP1 (G168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 769051	NM_012267.5(HSPBP1):c.76GGC[8] (p.Gly28_Gly30dup)	HSPBP1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 757554	NM_012267.5(HSPBP1):c.594C>T (p.Arg198=)	HSPBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749964	NM_012267.5(HSPBP1):c.213G>A (p.Arg71=)	HSPBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749881	NM_012267.5(HSPBP1):c.898G>T (p.Val300Leu)	HSPBP1 (V300L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730809	NM_012267.5(HSPBP1):c.444G>A (p.Leu148=)	HSPBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728903	NM_012267.5(HSPBP1):c.132C>T (p.Asn44=)	HSPBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 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: 56