ClinVar for Gene (Select 23640) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284976	NM_012267.5(HSPBP1):c.974G>T (p.Cys325Phe)	HSPBP1 (C325F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284975	NM_012267.5(HSPBP1):c.614G>A (p.Arg205His)	HSPBP1 (R205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284974	NM_012267.5(HSPBP1):c.971G>A (p.Arg324His)	HSPBP1 (R324H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284973	NM_012267.5(HSPBP1):c.293G>A (p.Arg98Gln)	HSPBP1 (R144Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284971	NM_012267.5(HSPBP1):c.568C>A (p.Arg190Ser)	HSPBP1 (R190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284970	NM_012267.5(HSPBP1):c.938C>T (p.Pro313Leu)	HSPBP1 (P313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284969	NM_012267.5(HSPBP1):c.845G>A (p.Arg282Gln)	HSPBP1 (R282Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	PPP1R15A, PPP2R1A +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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	OSCAR, PEG3 +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	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 63