ClinVar for Gene (Select 23194) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3093568	NM_012304.5(FBXL7):c.995G>A (p.Ser332Asn)	FBXL7, LOC126807327 (S332N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093567	NM_012304.5(FBXL7):c.86A>G (p.His29Arg)	FBXL7 (H29R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093566	NM_012304.5(FBXL7):c.764G>A (p.Ser255Asn)	FBXL7, LOC126807327 (S208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093565	NM_012304.5(FBXL7):c.619A>G (p.Ile207Val)	FBXL7 (I207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093564	NM_012304.5(FBXL7):c.218C>G (p.Ser73Trp)	FBXL7 (S26W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093563	NM_012304.5(FBXL7):c.1228G>A (p.Gly410Ser)	FBXL7, LOC126807327 (G363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2609164	NM_012304.5(FBXL7):c.1109A>T (p.Tyr370Phe)	FBXL7, LOC126807327 (Y370F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594310	NM_012304.5(FBXL7):c.185C>T (p.Pro62Leu)	FBXL7 (P62L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546073	NM_012304.5(FBXL7):c.843C>A (p.Asp281Glu)	FBXL7, LOC126807327 (D234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531657	NM_012304.5(FBXL7):c.1106G>A (p.Arg369His)	FBXL7, LOC126807327 (R322H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489577	NM_012304.5(FBXL7):c.445T>C (p.Trp149Arg)	FBXL7 (W102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468721	NM_012304.5(FBXL7):c.778G>A (p.Ala260Thr)	FBXL7, LOC126807327 (A213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455420	NM_012304.5(FBXL7):c.1081G>A (p.Gly361Ser)	FBXL7, LOC126807327 (G361S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385286	NM_012304.5(FBXL7):c.1027C>T (p.Arg343Trp)	FBXL7, LOC126807327 (R343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362442	NM_012304.5(FBXL7):c.425G>A (p.Arg142His)	FBXL7 (R95H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360103	NM_012304.5(FBXL7):c.100G>T (p.Ala34Ser)	FBXL7 (A34S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2352284	NM_012304.5(FBXL7):c.1085G>A (p.Arg362Gln)	FBXL7, LOC126807327 (R315Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346100	NM_012304.5(FBXL7):c.283C>T (p.Arg95Cys)	FBXL7 (R48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345352	NM_012304.5(FBXL7):c.1004G>A (p.Arg335His)	FBXL7, LOC126807327 (R288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286579	NM_012304.5(FBXL7):c.218C>T (p.Ser73Leu)	FBXL7 (S26L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275059	NM_012304.5(FBXL7):c.958G>A (p.Val320Met)	FBXL7, LOC126807327 (V320M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216819	NM_012304.5(FBXL7):c.888C>G (p.His296Gln)	FBXL7, LOC126807327 (H249Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207857	NM_012304.5(FBXL7):c.561G>A (p.Met187Ile)	FBXL7 (M140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808800	GRCh37/hg19 5p15.1(chr5:15086015-15868591)x3	FBXL7	Copy number gain	not provided	GUncertain significance
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 1708463	GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3	FBXL7	Copy number gain	DiGeorge syndrome	GUncertain significance
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 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	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 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814666	GRCh37/hg19 5p15.1(chr5:15093064-16669298)x3	ZNF622, MARCHF11 +3 more	Copy number gain	not provided	GUncertain significance
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 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 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 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 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 253478	GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	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
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
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 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	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 153229	GRCh38/hg38 5p15.1(chr5:15497375-15776180)x1	CTD-2350J17.1, FBXL7	Copy number loss	See cases	GUncertain significance
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 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 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 148791	GRCh38/hg38 5p15.1(chr5:15097493-15866008)x3	CTD-2350J17.1, FBXL7 +2 more	Copy number gain	See cases	Gconflicting data from submitters
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 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 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 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 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

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