ClinVar for MedGen (Select 867444) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625178	NM_004284.6(CHD1L):c.234C>T (p.Thr78=)	CHD1L (P14L)	Single nucleotide variant (missense variant +4 more)	Abnormality of the urinary system	GUncertain significance
Select item 267818	46;X;t(Y;3)(p11.2;p12.3)dn		Translocation	Abnormality of the genital system +6 more	GLikely pathogenic