ClinVar for MedGen (Select 854562) - ClinVar

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1624941.	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3 GRCh37: Chr11:2022018-2023452 GRCh38: Chr11:2000788-2002222	H19, H19-ICR, MRPL23	Wilms tumor 2	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 1624932.	NR_002196.1(H19):n.-7080_-1781del GRCh38: Chr11:1999616-2004919	H19, H19-ICR, MRPL23	Wilms tumor 2, Beckwith-Wiedemann syndrome	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 182443.	H19, 1.43-KB TRIPLICATION	H19	Wilms tumor 2	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 182434.	H19, 5.3-KB DEL	H19	Wilms tumor 2, Beckwith-Wiedemann syndrome	Pathogenic (Nov 1, 2008)	no assertion criteria provided

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