ClinVar for MedGen (Select 488941) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375378	NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)	DNAH7 (F3585L)	Single nucleotide variant (missense variant)	Abnormal muscle tone +4 more	GPathogenic
Select item 267851	46;XX;ins(5;6)(p13;p24p25)dn		Translocation	Isolated Pierre-Robin syndrome +14 more	GPathogenic
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn		Translocation	Ear malformation +13 more	GPathogenic

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