ClinVar for Gene (Select 442912) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1703609	GRCh37/hg19 4q25(chr4:112481911-113756889)	ALPK1, ANK2 +11 more	Copy number gain	Neurodevelopmental delay	GUncertain significance
Select item 1679684	Single allele	ANK2, LARP7 +13 more	Duplication	not provided	GUncertain significance
Select item 1527117	GRCh37/hg19 4q25-26(chr4:112849108-115434557)	ALPK1, ANK2 +13 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686806	GRCh37/hg19 4q25(chr4:113116277-113602286)x3	ALPK1, AP1AR +9 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992997, LOC129992998 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 211371	NM_016648.4(LARP7):c.802_1142+267del	MIR367, LARP7 +2 more	Deletion (splice acceptor variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 149944	GRCh38/hg38 4q25(chr4:112564382-112823236)x3	ANK2, LARP7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic