ASB7[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 58224	GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1	ADAMTS17, ASB7 +28 more	Copy number loss	See cases	GUncertain significance
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 58385	GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 147911	GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3	ALDH1A3, ALDH1A3-AS1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 58225	GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1	LRRK1, ALDH1A3 +32 more	Copy number loss	See cases	GUncertain significance
Select item 148565	GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 58386	GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 150646	GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3	ALDH1A3, ALDH1A3-AS1 +31 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 3130204	NM_198243.3(ASB7):c.107A>G (p.Gln36Arg)	ASB7 (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783722	NM_198243.3(ASB7):c.213T>C (p.Ala71=)	ASB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2492478	NM_198243.3(ASB7):c.223G>A (p.Val75Ile)	ASB7 (V75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724645	NM_198243.3(ASB7):c.381C>T (p.Tyr127=)	ASB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398276	NM_198243.3(ASB7):c.518A>G (p.Asn173Ser)	ASB7 (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310016	NM_198243.3(ASB7):c.667C>T (p.Leu223Phe)	ASB7 (L223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348936	NM_198243.3(ASB7):c.692G>A (p.Arg231Gln)	ASB7 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776947	NM_198243.3(ASB7):c.699A>G (p.Leu233=)	ASB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402313	NM_198243.3(ASB7):c.719C>T (p.Thr240Met)	ASB7 (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387118	NM_198243.3(ASB7):c.878A>G (p.Gln293Arg)	ASB7 (Q293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768729	NM_198243.3(ASB7):c.891A>G (p.Leu297=)	ASB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809169	GRCh37/hg19 15q26.3(chr15:100921195-101144913)x3	ASB7, CERS3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	GUncertain significance
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 1077189	Single allele	ADAMTS17, ALDH1A3 +12 more	Deletion	Chromosome 15q26-qter deletion syndrome	GLikely pathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980653	GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	ASB7, CERS3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 980645	GRCh37/hg19 15q26.3(chr15:100740391-101144913)x3	CERS3, LINS1 +2 more	Copy number gain	not provided	GLikely benign
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic
Select item 815764	GRCh37/hg19 15q26.3(chr15:101163927-101382716)x3	ASB7	Copy number gain	not provided	GUncertain significance
Select item 815755	GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1	OR4F15, PGPEP1L +19 more	Copy number loss	not provided	GPathogenic
Select item 815754	GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1	SYNM, CHSY1 +19 more	Copy number loss	not provided	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 805881	GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1	CHSY1, SELENOS +22 more	Copy number loss	Chromosome 15q26-qter deletion syndrome	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 638671	GRCh37/hg19 15q26.3(chr15:100923767-101626187)	LRRK1, ASB7 +3 more	Copy number loss	Esophageal atresia +3 more	GUncertain significance
Select item 635871	Single allele	ALDH1A3, ASB7 +3 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic
Select item 564245	GRCh37/hg19 15q26.3(chr15:100979052-101616877)x1	LINS1, ASB7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564241	GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1	SELENOS, TM2D3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564237	GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3	OR4F6, MEF2A +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443865	GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	ADAMTS17, ALDH1A3 +26 more	Copy number gain	See cases	GPathogenic
Select item 443858	GRCh37/hg19 15q26.3(chr15:100329787-101256874)x1	ADAMTS17, ASB7 +2 more	Copy number loss	See cases	GUncertain significance
Select item 443651	GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	See cases	GPathogenic
Select item 443543	GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1	ADAMTS17, ALDH1A3 +21 more	Copy number loss	See cases	GPathogenic
Select item 443542	GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1	ADAMTS17, ALDH1A3 +18 more	Copy number loss	See cases	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442874	GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1	ADAMTS17, ALDH1A3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 442658	GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1	ALDH1A3, ASB7 +10 more	Copy number loss	See cases	GLikely benign
Select item 442426	GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1	CERS3, CHSY1 +20 more	Copy number loss	See cases	GPathogenic
Select item 441701	GRCh37/hg19 15q26.3(chr15:100987918-101615864)x3	ALDH1A3, ASB7 +3 more	Copy number gain	See cases	GLikely benign
Select item 395723	GRCh37/hg19 15q26.3(chr15:98818228-102399760)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2