ClinVar for MedGen (Select 18721) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997080	GRCh37/hg19 4q31.23(chr4:148911418-149103259)	ARHGAP10, NR3C2	Copy number loss	Intellectual disability +1 more	GLikely pathogenic
Select item 988230	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	SCNN1A (R192fs +2 more)	Deletion (frameshift variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 252501	NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter)	NR3C2 (S470*)	Single nucleotide variant (nonsense +1 more)	Pseudohypoaldosteronism	GPathogenic

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