ClinVar for MedGen (Select 468428) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632970	NR_003051.4(RMRP):n.213C>G	RMRP	Single nucleotide variant	Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 379208	NR_003051.3(RMRP):n.147G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +5 more	GPathogenic