ClinVar for MedGen (Select 1841121) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501712	NM_138386.3(NAF1):c.956_957del (p.Lys319fs)	NAF1 (K319fs)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic
Select item 2501711	NM_138386.3(NAF1):c.984dup (p.Ser329fs)	NAF1 (S329fs)	Duplication (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic