100500938[Gene ID] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145008	GRCh38/hg38 11p14.3(chr11:22830371-23213204)x3	CCDC179, LINC02718 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2466329	NM_001195637.2(CCDC179):c.103C>T (p.Arg35Cys)	CCDC179, LINC02718 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225292	NM_001195637.2(CCDC179):c.85C>T (p.Arg29Trp)	CCDC179, LINC02718 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627998	NM_001195637.2(CCDC179):c.25G>C (p.Glu9Gln)	LINC02718, CCDC179 (E9Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2512081	NM_001195637.2(CCDC179):c.25G>A (p.Glu9Lys)	CCDC179, LINC02718 (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063187	GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1	ANO5, CCDC179 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1808250	GRCh37/hg19 11p14.3(chr11:22582555-23040011)x3	CCDC179, FANCF +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711091	GRCh37/hg19 11p14.3(chr11:22678758-23584615)x1	CCDC179, GAS2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340328	GRCh37/hg19 11p14.3(chr11:22711002-22981254)x3	CCDC179, GAS2 +1 more	Copy number gain	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815419	GRCh37/hg19 11p14.3(chr11:22835331-23275932)x3	SVIP, CCDC179	Copy number gain	not provided	GLikely benign
Select item 815418	GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3	ANO5, CCDC179 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 687510	GRCh37/hg19 11p14.3(chr11:22668315-23047939)x1	CCDC179, GAS2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686827	GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	ANO5, CCDC179 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685359	GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1	CCDC179, FANCF +2 more	Copy number loss	not provided	GPathogenic
Select item 493563	GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3	FANCF, GAS2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 33