HSPBAP1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 3284966	NM_024610.6(HSPBAP1):c.1255G>T (p.Asp419Tyr)	HSPBAP1 (D391Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107384	NM_024610.6(HSPBAP1):c.1222G>C (p.Gly408Arg)	HSPBAP1 (G380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279501	NM_024610.6(HSPBAP1):c.1205C>T (p.Pro402Leu)	HSPBAP1 (P374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389726	NM_024610.6(HSPBAP1):c.1064A>C (p.Lys355Thr)	HSPBAP1 (K355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532386	NM_024610.6(HSPBAP1):c.1060A>G (p.Met354Val)	HSPBAP1 (M326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107383	NM_024610.6(HSPBAP1):c.1043G>C (p.Arg348Thr)	HSPBAP1 (R348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311309	NM_024610.6(HSPBAP1):c.1019A>G (p.Glu340Gly)	HSPBAP1 (E312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342159	NM_024610.6(HSPBAP1):c.1004G>A (p.Arg335His)	HSPBAP1 (R307H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406923	NM_024610.6(HSPBAP1):c.937G>A (p.Val313Ile)	HSPBAP1 (V313I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328562	NM_024610.6(HSPBAP1):c.865C>T (p.Arg289Cys)	HSPBAP1 (R261C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601218	NM_024610.6(HSPBAP1):c.845G>A (p.Arg282Gln)	HSPBAP1 (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619089	NM_024610.6(HSPBAP1):c.688T>C (p.Phe230Leu)	HSPBAP1 (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400648	NM_024610.6(HSPBAP1):c.671A>G (p.Asn224Ser)	HSPBAP1 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242361	NM_024610.6(HSPBAP1):c.662A>T (p.Asn221Ile)	HSPBAP1 (N221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613304	NM_024610.6(HSPBAP1):c.570G>A (p.Arg190=)	HSPBAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2314967	NM_024610.6(HSPBAP1):c.515C>T (p.Thr172Ile)	HSPBAP1 (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107388	NM_024610.6(HSPBAP1):c.500C>T (p.Ser167Phe)	HSPBAP1 (S167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478581	NM_024610.6(HSPBAP1):c.497G>T (p.Gly166Val)	HSPBAP1 (G166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547366	NM_024610.6(HSPBAP1):c.479A>G (p.Glu160Gly)	HSPBAP1 (E160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107387	NM_024610.6(HSPBAP1):c.454G>A (p.Gly152Arg)	HSPBAP1 (G152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284968	NM_024610.6(HSPBAP1):c.412G>C (p.Asp138His)	HSPBAP1 (D138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460438	NM_024610.6(HSPBAP1):c.331A>G (p.Ile111Val)	HSPBAP1 (I111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493403	NM_024610.6(HSPBAP1):c.286G>A (p.Ala96Thr)	HSPBAP1 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107386	NM_024610.6(HSPBAP1):c.242T>A (p.Met81Lys)	HSPBAP1 (M81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601810	NM_024610.6(HSPBAP1):c.195G>C (p.Gln65His)	HSPBAP1 (Q65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284967	NM_024610.6(HSPBAP1):c.185A>G (p.Tyr62Cys)	HSPBAP1 (Y62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210735	NM_024610.6(HSPBAP1):c.172T>C (p.Trp58Arg)	HSPBAP1 (W58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308500	NM_024610.6(HSPBAP1):c.146T>C (p.Met49Thr)	HSPBAP1 (M49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107385	NM_024610.6(HSPBAP1):c.133A>G (p.Ile45Val)	HSPBAP1 (I45V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256033	NM_024610.6(HSPBAP1):c.37G>C (p.Val13Leu)	HSPBAP1 (V13L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814474	GRCh37/hg19 3q21.1(chr3:122408684-122753973)x3	PARP14, SEMA5B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 562813	GRCh37/hg19 3q21.1(chr3:122478089-122635129)x3	SEMA5B, SLC49A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

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Items: 51