ClinVar for Gene (Select 153571) - 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 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3110956	NR_122125.2(IRX2-DT):n.603G>C	IRX2-DT	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 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 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 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 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 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 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 2684406	GRCh37/hg19 5p15.33(chr5:2654296-3403387)x3	IRX2, IRX2-DT	Copy number gain	not provided	GUncertain significance
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 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	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 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	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 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	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 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 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 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	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 814661	GRCh37/hg19 5p15.33-15.32(chr5:2402960-5395826)x3	C5orf38, IRX2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 more	Copy number loss	not provided	GPathogenic
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	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 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
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 624532	GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 563029	GRCh37/hg19 5p15.33(chr5:2286286-2903010)x3	C5orf38, IRX2	Copy number gain	not provided	GUncertain significance
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 563024	GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 563023	GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563022	GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1	ADAMTS16, AHRR +29 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 443598	GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1	ADAMTS16, AHRR +28 more	Copy number loss	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 442940	GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	ADAMTS16, ADCY2 +40 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 441820	GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441756	GRCh37/hg19 5p15.33(chr5:113576-4175855)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic
Select item 441752	GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	SDHA, SEMA5A +55 more	Copy number loss	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 395562	GRCh37/hg19 5p15.33(chr5:22149-2965987)x1	AHRR, BRD9 +26 more	Copy number loss	See cases	GPathogenic
Select item 395342	GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 395252	GRCh37/hg19 5p15.33(chr5:2749039-2753361)x3	IRX2, IRX2-DT	Copy number gain	See cases	GBenign
Select item 394825	GRCh37/hg19 5p15.33(chr5:2749039-2755084)x3	IRX2, IRX2-DT	Copy number gain	See cases	GBenign
Select item 394765	GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1	ADAMTS16, AHRR +31 more	Copy number loss	See cases	GPathogenic
Select item 394581	GRCh37/hg19 5p15.33(chr5:22149-4163847)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic
Select item 394397	GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1	AHRR, BRD9 +27 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 393980	GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1	ADAMTS16, AHRR +29 more	Copy number loss	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 253596	GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	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 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
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 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 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 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 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 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 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 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 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 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 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 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
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 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 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 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic

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