17789[HGNC] - ClinVar

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Items: 27

	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 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2525508	NM_018362.4(LIN7C):c.548C>T (p.Ser183Leu)	LIN7C (S183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118948	NM_018362.4(LIN7C):c.535G>A (p.Glu179Lys)	LIN7C (E179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118946	NM_018362.4(LIN7C):c.355A>G (p.Ile119Val)	LIN7C (I119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118950	NM_018362.4(LIN7C):c.79A>G (p.Ser27Gly)	LIN7C (S27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118947	NM_018362.4(LIN7C):c.35G>C (p.Arg12Thr)	LIN7C, LOC126861171 (R12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118945	NM_018362.4(LIN7C):c.22G>A (p.Val8Met)	LIN7C, LOC126861171 (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809116	GRCh37/hg19 11p14.1(chr11:27340839-27572771)x1	BDNF-AS, CCDC34 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711090	GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1	BDNF, BDNF-AS +6 more	Copy number loss	See cases	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 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 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	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
Select item 253976	GRCh37/hg19 11p14.1(chr11:27407012-28000144)x3	LIN7C, BDNF +2 more	Copy number gain	See cases	GUncertain significance

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Items: 27