ClinVar for MedGen (Select 436247) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982686	NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	UNC13C (R95*)	Single nucleotide variant (nonsense)	Cystic renal dysplasia +4 more	GUncertain significance
Select item 870605	NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro)	HOXD13 (T313P)	Single nucleotide variant (missense variant)	Abnormal finger morphology +1 more	GUncertain significance
Select item 586980	NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer)	ERI1	Deletion (frameshift variant)	Abnormal finger morphology +3 more	GLikely pathogenic

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