ClinVar for MedGen (Select 539700) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226295	GRCh37/hg19 Xp22.33(chrX:426736-1215426)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226294	GRCh37/hg19 Xp11.3(chrX:44073185-44716100)	DUSP21, FUNDC1 +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226293	GRCh37/hg19 Xq26.1(chrX:129681013-130305495)	ENOX2, ARHGAP36	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226292	GRCh37/hg19 Xq22.3(chrX:105098359-105625090)	SERPINA7, PWWP3B +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226291	GRCh37/hg19 Xp22.2(chrX:10299643-10638042)	MID1	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 226290	GRCh37/hg19 Xp22.31(chrX:8219053-8484026)	VCX3B	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226289	GRCh37/hg19 Xp22.33(chrX:2059627-2314248)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226288	GRCh37/hg19 Xp22.33(chrX:370599-612414)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226287	GRCh37/hg19 Xp22.33(chrX:417624-636092)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226286	GRCh37/hg19 Xp22.33(chrX:636950-820594)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226285	GRCh37/hg19 Xp22.33(chrX:1427577-1592679)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226284	GRCh37/hg19 Xp22.2(chrX:13354873-13493086)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226283	GRCh37/hg19 Xq28(chrX:154873222-155010594)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226282	GRCh37/hg19 Xp22.31(chrX:8075662-8148705)	VCX2	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226281	GRCh37/hg19 21q22.2(chr21:40100880-40154748)	LINC00114	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226279	GRCh37/hg19 22q13.2(chr22:43090481-43161021)	A4GALT	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226278	GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304)	RRN3, ABCC1 +13 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 226276	GRCh37/hg19 6p22.3(chr6:20884837-21082258)	CDKAL1	Copy number loss	Abnormal esophagus morphology	GLikely pathogenic
Select item 226275	GRCh37/hg19 21q22.12(chr21:37487858-37598197)	DOP1B, CBR3	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226274	GRCh37/hg19 21q21.1(chr21:19622822-19810737)	CHODL, TMPRSS15	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226273	GRCh37/hg19 20p13(chr20:4931970-4972088)	SLC23A2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226272	GRCh37/hg19 20p13(chr20:3857650-3900324)	MIR103A2, PANK2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226271	GRCh37/hg19 20q11.23(chr20:36905828-36972896)	BPI	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226270	GRCh37/hg19 20p12.1(chr20:15062923-15103156)	MACROD2	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226269	GRCh37/hg19 20p13(chr20:113651-184813)	DEFB128, DEFB127 +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226268	GRCh37/hg19 19q13.42(chr19:55434213-55486661)	NLRP2, NLRP7	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226267	GRCh37/hg19 19q13.42(chr19:53647182-53693873)	ZNF347, ZNF665	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226266	GRCh37/hg19 18q12.2(chr18:34546490-34698627)	KIAA1328	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226265	GRCh37/hg19 18q11.2(chr18:22883781-23015036)	ZNF521	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226264	GRCh37/hg19 17p13.3(chr17:735198-797669)	NXN	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226263	GRCh37/hg19 17p13.2(chr17:3505638-3559746)	TRPV1, CTNS +1 more	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226262	GRCh37/hg19 17q11.2(chr17:25972552-26066964)	LGALS9	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226261	GRCh37/hg19 17p11.2(chr17:20051012-20592172)	CDRT15L2, SPECC1 +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226260	GRCh37/hg19 17p11.2(chr17:19417785-19579313)	SLC47A1, ALDH3A2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226259	GRCh37/hg19 17p11.2(chr17:17316541-17349835)		Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226258	GRCh37/hg19 16q24.2(chr16:87738873-87812644)	KLHDC4	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226257	GRCh37/hg19 16q24.1(chr16:84435058-84470476)	ATP2C2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226256	GRCh37/hg19 16q24.1(chr16:84429584-84490643)	ATP2C2	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226255	GRCh37/hg19 16q23.2(chr16:81234781-81287239)	PKD1L2, BCO1	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226254	GRCh37/hg19 16p13.3(chr16:7303708-7357294)	RBFOX1	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226253	GRCh37/hg19 13q12.11(chr13:22688792-22981935)		Copy number loss	Abnormal esophagus morphology	GUncertain significance
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226250	GRCh37/hg19 16p13.11(chr16:15034035-15998820)	NPIPA1, NPIPA5 +9 more	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 226249	GRCh37/hg19 15q24.2-24.3(chr15:76524284-76625437)	ETFA	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226248	GRCh37/hg19 22q11.21(chr22:18637139-20289862)	TRMT2A, DGCR8 +27 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 226247	GRCh37/hg19 15q21.3(chr15:55354493-55956320)	RAB27A, PYGO1 +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226246	GRCh37/hg19 16p13.11(chr16:15539023-16291541)	ABCC1, ABCC6 +5 more	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 226245	GRCh37/hg19 15q11.2(chr15:22665220-23147419)	CYFIP1, GOLGA6L1 +3 more	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226244	GRCh37/hg19 15q26.3(chr15:102332446-102368280)	OR4F6, OR4F15	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226243	GRCh37/hg19 15q26.3(chr15:102325461-102373183)	OR4F15, OR4F6	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226242	GRCh37/hg19 14q21.2(chr14:44928342-45378475)	C14orf28, FSCB	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226241	GRCh37/hg19 14q12(chr14:24947323-24986166)	CMA1	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226240	GRCh37/hg19 14q11.2(chr14:21353205-21421877)	RNASE3	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226239	GRCh37/hg19 13q31.3(chr13:92979291-93049171)	GPC5	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226238	GRCh37/hg19 13q31.3(chr13:92958981-93035128)	GPC5	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226237	GRCh37/hg19 13q31.1(chr13:85909019-86064348)		Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226236	GRCh37/hg19 13q21.31(chr13:64295459-64400173)		Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226235	GRCh37/hg19 13q14.11(chr13:44032193-44171911)	ENOX1	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226234	GRCh37/hg19 13q14.11(chr13:43146433-43187994)	TNFSF11	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226233	GRCh37/hg19 13q12.3(chr13:29714684-29828112)	MTUS2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226232	GRCh37/hg19 13q12.12(chr13:23803922-23853233)	SGCG	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226231	GRCh37/hg19 2q35(chr2:218647714-219053933)	TNS1, CXCR1 +2 more	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 226230	GRCh37/hg19 13q12.11(chr13:19612306-19679872)		Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226229	GRCh37/hg19 12q22(chr12:95530434-95627379)	VEZT, FGD6	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226228	GRCh37/hg19 12q21.31(chr12:83765377-84013252)		Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226227	GRCh37/hg19 12p13.31(chr12:8069848-8101856)	SLC2A3	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226226	GRCh37/hg19 12p13.33(chr12:706022-1125143)	WNK1, RAD52 +3 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226225	GRCh37/hg19 12q24.33(chr12:133199968-133337730)	PXMP2, PGAM5 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226224	GRCh37/hg19 12q24.32(chr12:127488730-127837052)		Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226223	GRCh37/hg19 12q24.31(chr12:123596909-123989546)	SBNO1, MTRFR +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226222	GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246)	ACAD10, MAPKAPK5 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226221	GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166)	MAPKAPK5, ACAD10 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226220	GRCh37/hg19 12q24.11(chr12:109549884-109667024)	ACACB	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226219	GRCh37/hg19 12p13.2(chr12:10423943-10552714)	KLRK1, KLRD1	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226218	GRCh37/hg19 11q22.1(chr11:99519242-99568648)	CNTN5	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226217	GRCh37/hg19 11q22.1(chr11:99497530-99583304)	CNTN5	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226216	GRCh37/hg19 4q35.2(chr4:187540292-187849681)	FAT1	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 226215	GRCh37/hg19 11q13.5(chr11:76268060-76417696)	LRRC32	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226214	GRCh37/hg19 15q13.3(chr15:32457092-32771537)	CHRNA7, GOLGA8O	Copy number loss	Abnormal esophagus morphology	GLikely pathogenic
Select item 226213	GRCh37/hg19 11p12(chr11:40567422-40660470)	LRRC4C	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226212	GRCh37/hg19 11p14.3(chr11:21836986-22032466)		Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226211	GRCh37/hg19 11p15.2(chr11:14865608-14906548)	CYP2R1, PDE3B	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226210	GRCh37/hg19 11p15.5(chr11:1115899-1261163)	MUC5B, MUC5AC	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226209	GRCh37/hg19 11q22.3(chr11:103971318-104028957)	PDGFD	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226208	GRCh37/hg19 11q22.1(chr11:101397368-101472351)	TRPC6	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226207	GRCh37/hg19 10q23.33(chr10:96497751-96560546)	CYP2C19	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226206	GRCh37/hg19 10q23.2(chr10:88392032-88422089)	OPN4	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226205	GRCh37/hg19 10q11.23(chr10:51790819-52167537)	SGMS1, ASAH2 +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226204	GRCh37/hg19 10p11.22(chr10:33086451-33279862)	ITGB1, CCDC7	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226203	GRCh37/hg19 Xq13.1(chrX:71537559-71609005)	HDAC8	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226202	GRCh37/hg19 22q13.33(chr22:50645586-50949482)	DENND6B, ADM2 +11 more	Copy number loss	Abnormal esophagus morphology	GUncertain significance
Select item 226201	GRCh37/hg19 10q26.2(chr10:128328611-128544207)		Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226200	GRCh37/hg19 10p12.33(chr10:18550958-18592873)	CACNB2	Copy number loss	Abnormal esophagus morphology	GUncertain significance
Select item 226199	GRCh37/hg19 10p12.33(chr10:18550958-18583866)	CACNB2	Copy number loss	Abnormal esophagus morphology	GUncertain significance
Select item 226198	GRCh37/hg19 9p22.3(chr9:15300542-15381614)	TTC39B	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 226197	GRCh37/hg19 9p23(chr9:9919638-9990269)	PTPRD	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226196	GRCh37/hg19 9p24.1(chr9:8802640-8836439)	PTPRD	Copy number loss	Abnormal esophagus morphology	GLikely benign

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