ClinVar for MedGen (Select 1788976) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254819	NM_001039396.2(MPEG1):c.1295_1296del (p.His432fs)	MPEG1 (H432fs)	Deletion (frameshift variant)	Immunodeficiency 77	GUncertain significance
Select item 3065892	NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)	MPEG1 (F360I)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 3065464	NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)	MPEG1 (S208N)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 2689441	NM_001039396.2(MPEG1):c.1574C>T (p.Ala525Val)	MPEG1 (A525V)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 2431677	NM_001039396.2(MPEG1):c.1865T>C (p.Ile622Thr)	MPEG1 (I622T)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 2431431	NM_001039396.2(MPEG1):c.746A>G (p.Asn249Ser)	MPEG1 (N249S)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 1698719	NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)	MPEG1 (R149*)	Single nucleotide variant (nonsense)	Immunodeficiency 77	GUncertain significance
Select item 1035590	NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)	MPEG1 (P405T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1035588	NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter)	MPEG1 (Q398*)	Single nucleotide variant (nonsense)	Immunodeficiency 77	GPathogenic
Select item 1035586	NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)	MPEG1 (T73A)	Single nucleotide variant (missense variant)	Immunodeficiency 77 +1 more	GLikely benign
Select item 978045	NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)	MPEG1 (Y430*)	Single nucleotide variant (nonsense)	MPEG1-related immunodeficiency	GUncertain significance