ClinVar for OMIM (Select 603109) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488345	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1, LOC130064510 (R110C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 162627	NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu)	SGO1, SGO1-AS1 (K23E)	Single nucleotide variant (missense variant +1 more)	Chronic atrial and intestinal dysrhythmia +1 more	GPathogenic
Select item 39763	NM_001370259.2(MEN1):c.654+1G>A	MEN1	Single nucleotide variant (splice donor variant +1 more)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 37262	NM_003036.4(SKI):c.100G>T (p.Gly34Cys)	SKI (G34C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 37261	NM_003036.4(SKI):c.100G>A (p.Gly34Ser)	SKI (G34S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 37260	NM_003036.4(SKI):c.101G>A (p.Gly34Asp)	SKI (G34D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GPathogenic
Select item 37259	NM_003036.4(SKI):c.94C>G (p.Leu32Val)	SKI (L32V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GPathogenic
Select item 30149	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4 (I500T)	Single nucleotide variant (missense variant)	Myhre syndrome +2 more	GPathogenic

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