ClinVar for MedGen (Select 44089) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997050	GRCh37/hg19 16p11.2(chr16:29652999-30197341)	HIRIP3, INO80E +25 more	Copy number gain	Severe sensorineural hearing impairment +2 more	GPathogenic
Select item 267910	46;XX;t(11;17)(q13;q25)dn		Translocation	Growth delay +7 more	GUncertain significance
Select item 267835	46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn		Complex	Coloboma of optic nerve +15 more	GUncertain significance

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