ClinVar for MedGen (Select 1378448) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065571	NM_138272.3(MPIG6B):c.346_347del (p.Ser116fs)	MPIG6B (S116fs)	Microsatellite (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 2627094	NM_138272.3(MPIG6B):c.332del (p.Arg111fs)	MPIG6B (R111fs)	Deletion (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 1705533	NM_138272.3(MPIG6B):c.558C>T (p.Thr186=)	MPIG6B (R193* +1 more)	Single nucleotide variant (nonsense +1 more)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 1687190	NM_138272.3(MPIG6B):c.323G>T (p.Cys108Phe)	MPIG6B (C108F)	Single nucleotide variant (missense variant)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 1684426	NM_138272.3(MPIG6B):c.337G>T (p.Glu113Ter)	MPIG6B (E113*)	Single nucleotide variant (nonsense)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 1028384	NM_138272.3(MPIG6B):c.518C>A (p.Pro173Gln)	MPIG6B (P173Q)	Single nucleotide variant (missense variant +2 more)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 993022	NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)	MPIG6B (A52fs)	Duplication (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 828136	NM_138272.3(MPIG6B):c.248G>A (p.Arg83His)	MPIG6B (R83H)	Single nucleotide variant (missense variant)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 660958	NM_138272.3(MPIG6B):c.523C>T (p.Arg175Ter)	MPIG6B (R175*)	Single nucleotide variant (nonsense +2 more)	Thrombocytopenia, anemia, and myelofibrosis +1 more	GPathogenic/Likely pathogenic
Select item 417972	NM_138272.3(MPIG6B):c.324C>A (p.Cys108Ter)	MPIG6B (C108*)	Single nucleotide variant (nonsense)	Thrombocytopenia, anemia, and myelofibrosis	GPathogenic