BASP1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 155086	GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1	BASP1, BASP1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 788981	NM_006317.5(BASP1):c.39T>C (p.Asn13=)	BASP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133001	NM_006317.5(BASP1):c.121G>C (p.Glu41Gln)	BASP1 (E41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260466	NM_006317.5(BASP1):c.125C>T (p.Pro42Leu)	BASP1 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133002	NM_006317.5(BASP1):c.172C>T (p.Pro58Ser)	BASP1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133003	NM_006317.5(BASP1):c.239A>C (p.Glu80Ala)	BASP1 (E80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224065	NM_006317.5(BASP1):c.240G>C (p.Glu80Asp)	BASP1 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517527	NM_006317.5(BASP1):c.277G>A (p.Ala93Thr)	BASP1 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133004	NM_006317.5(BASP1):c.298C>T (p.Pro100Ser)	BASP1 (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133005	NM_006317.5(BASP1):c.368C>G (p.Ala123Gly)	BASP1 (A123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355596	NM_006317.5(BASP1):c.379G>A (p.Ala127Thr)	BASP1 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260465	NM_006317.5(BASP1):c.380C>T (p.Ala127Val)	BASP1 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490646	NM_006317.5(BASP1):c.397G>A (p.Ala133Thr)	BASP1 (A133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607073	NM_006317.5(BASP1):c.400G>A (p.Ala134Thr)	BASP1 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133006	NM_006317.5(BASP1):c.403C>T (p.Pro135Ser)	BASP1 (P135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596947	NM_006317.5(BASP1):c.421C>T (p.Pro141Ser)	BASP1 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133008	NM_006317.5(BASP1):c.446A>G (p.Lys149Arg)	BASP1 (K149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488252	NM_006317.5(BASP1):c.464C>T (p.Ala155Val)	BASP1 (A155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249699	NM_006317.5(BASP1):c.475G>A (p.Ala159Thr)	BASP1 (A159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133009	NM_006317.5(BASP1):c.541C>T (p.Pro181Ser)	BASP1 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133010	NM_006317.5(BASP1):c.605C>T (p.Pro202Leu)	BASP1 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133011	NM_006317.5(BASP1):c.667G>C (p.Val223Leu)	BASP1 (V223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520553	NM_006317.5(BASP1):c.673G>T (p.Val225Leu)	BASP1 (V225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2446724	GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	BASP1, RETREG1 +19 more	Copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1807840	GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1	ANKH, ANKRD33B +23 more	Copy number loss	not provided	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979513	GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3	LINC02899, MYO10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 688316	GRCh37/hg19 5p15.2-14.3(chr5:11182916-18624750)x3	ANKH, BASP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 563042	GRCh37/hg19 5p15.1(chr5:17011469-17255026)x1	BASP1	Copy number loss	not provided	GLikely benign
Select item 563035	GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1	FBXL7, DAP +14 more	Copy number loss	not provided	GPathogenic
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	CTNND2, DAP +67 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395597	GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 394237	GRCh37/hg19 5p15.1(chr5:17217880-17276636)x3	BASP1	Copy number gain	See cases	GLikely benign
Select item 393852	GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	ADAMTS16, ADCY2 +39 more	Copy number gain	See cases	GPathogenic
Select item 393768	GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 242852	GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3	RETREG1, SDHA +62 more	Copy number gain	not provided	GPathogenic

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Items: 100