ClinVar for Gene (Select 123477784) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 584210	NC_000004.12:g.(?_88007714)_(88075714_?)del	LOC129992814, PKD2 +2 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 477620	NC_000004.12:g.(?_88007714)_(88058123_?)del	LOC123477784, LOC129992813 +2 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic