ClinVar for MedGen (Select 1846290) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577545	NM_003290.3(TPM4):c.205C>T (p.Arg69Ter)	TPM4 (R105* +2 more)	Single nucleotide variant (nonsense)	Bleeding disorder, platelet-type, 25	GPathogenic
Select item 2577544	NM_003290.3(TPM4):c.322C>T (p.Gln108Ter)	TPM4 (Q108* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2577543	NM_003290.3(TPM4):c.436C>T (p.Arg146Cys)	TPM4 (R182C +3 more)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 25	GPathogenic

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