ClinVar for MedGen (Select 1841189) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502916	NM_003292.3(TPR):c.2610+5G>A	TPR	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 79	GPathogenic
Select item 2502915	NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)	TPR (R2209*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 79	GPathogenic