ClinVar for Gene (Select 730094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063437	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3063425	GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063414	GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3024602	GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024600	GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1	NPIPB4, NPIPB5 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 2578775	GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2498684	GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879353	GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879352	GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1	VWA3A, CDR2 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809106	GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808745	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 1808703	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703608	GRCh37/hg19 16p12.2(chr16:21817921-22710614)	CDR2, EEF2K +8 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1684662	NC_000016.10:g.21936825_22429665del	LOC130058638, LOC130058639 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1341992	GRCh37/hg19 16p12.2(chr16:21837492-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 1341020	GRCh37/hg19 16p12.2(chr16:21761404-22431357)x3	CDR2, EEF2K +8 more	Copy number gain	not provided	GUncertain significance
Select item 1341018	GRCh37/hg19 16p12.2(chr16:21931247-22431128)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340395	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x3	CDR2, EEF2K +9 more	Copy number gain	not provided	GUncertain significance
Select item 1339937	GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3	CDR2, EEF2K +10 more	Copy number gain	not provided	Gnot provided
Select item 1330202	GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330200	GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330186	GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	UQCRC2, VWA3A +9 more	Copy number loss	Abnormal foot morphology +4 more	GPathogenic
Select item 1330168	GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1172567	GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1	MOSMO, POLR3E +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 997048	GRCh37/hg19 16p12.2(chr16:21951379-22407931)	MOSMO, PDZD9 +6 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 988930	GRCh37/hg19 16p12.2(chr16:21946438-22441358)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980072	GRCh37/hg19 16p12.2(chr16:21931247-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 973064	GRCh37/hg19 16p12.2(chr16:21839340-22552780)	CDR2, EEF2K +8 more	Copy number loss	not provided	Gnot provided
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 815810	GRCh37/hg19 16p12.2(chr16:21576802-22431357)x1	CDR2, EEF2K +10 more	Copy number loss	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689101	GRCh37/hg19 16p12.2(chr16:21841353-22442007)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 685848	GRCh37/hg19 16p12.2(chr16:21785197-22431357)x3	PDZD9, POLR3E +7 more	Copy number gain	not provided	GUncertain significance
Select item 625754	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625686	GRCh37/hg19 16p12.2(chr16:21964083-22386845)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625677	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625599	GRCh37/hg19 16p12.2(chr16:21976691-22386881)	POLR3E, SDR42E2 +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625577	GRCh37/hg19 16p12.2(chr16:21943463-22702769)	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625576	GRCh37/hg19 16p12.2(chr16:21884192-22288219)	SDR42E2, EEF2K +4 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 624535	GRCh37/hg19 16p12.2(chr16:21951379-22407931)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GLikely benign
Select item 564306	GRCh37/hg19 16p12.2(chr16:21948756-22442007)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 564305	GRCh37/hg19 16p12.2(chr16:21946044-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 564304	GRCh37/hg19 16p12.2(chr16:21931247-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 564303	GRCh37/hg19 16p12.2(chr16:21841455-22710614)x1	CDR2, EEF2K +8 more	Copy number loss	not provided	GPathogenic
Select item 564302	GRCh37/hg19 16p12.2(chr16:21817921-22710614)x1	CDR2, EEF2K +8 more	Copy number loss	not provided	GPathogenic
Select item 564301	GRCh37/hg19 16p12.2(chr16:21801889-22442007)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 564300	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 564299	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 564298	GRCh37/hg19 16p12.2(chr16:21801889-22389376)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 560056	Single allele	CDR2, CDR2-DT +34 more	Deletion	not provided	GUncertain significance
Select item 545196	Single allele	LOC130058635, LOC130058646 +35 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545195	Single allele	CDR2, CDR2-DT +35 more	Duplication	Autism	GLikely pathogenic
Select item 545194	NC_000016.10:g.(?_21928119)_(22428075_?)del	CDR2, CDR2-DT +35 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 443991	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 443985	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	See cases	GLikely benign
Select item 443548	GRCh37/hg19 16p12.2(chr16:21841455-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443297	GRCh37/hg19 16p12.2(chr16:21801890-22442007)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442563	GRCh37/hg19 16p12.2(chr16:21787031-22431357)x3	PDZD9, CDR2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ATP2A1, ALDOA +102 more	Copy number loss	See cases	GPathogenic
Select item 442136	GRCh37/hg19 16p12.2(chr16:21801488-22441367)x3	CDR2, EEF2K +7 more	Copy number gain	See cases	GLikely benign
Select item 442043	GRCh37/hg19 16p12.2(chr16:21841455-22441367)x3	CDR2, EEF2K +7 more	Copy number gain	See cases	GUncertain significance
Select item 442017	GRCh37/hg19 16p12.2(chr16:21761405-22431357)x1	CDR2, EEF2K +8 more	Copy number loss	See cases	GUncertain significance
Select item 441563	GRCh37/hg19 16p12.2(chr16:21801889-22441367)x3	CDR2, EEF2K +7 more	Copy number gain	See cases	GLikely benign
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	SPNS1, SULT1A1 +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 393797	GRCh37/hg19 16p12.2(chr16:21986752-22407872)x1	CDR2, EEF2K +6 more	Copy number loss	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253979	GRCh37/hg19 16p12.2(chr16:21806299-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 253960	GRCh37/hg19 16p12.2(chr16:21968752-22407931)x3	CDR2, EEF2K +6 more	Copy number gain	See cases	GUncertain significance
Select item 253926	GRCh37/hg19 16p12.2(chr16:21817619-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 253813	GRCh37/hg19 16p12.2(chr16:21976691-22407931)x1	CDR2, EEF2K +6 more	Copy number loss	See cases	GUncertain significance
Select item 253720	GRCh37/hg19 16p12.2(chr16:21968752-22407931)x1	CDR2, EEF2K +6 more	Copy number loss	See cases	GUncertain significance
Select item 221993	GRCh37/hg19 16p12.2(chr16:21771016-22409463)x1	CDR2, EEF2K +8 more	Copy number loss	See cases	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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