C4014814[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	Congenital glaucoma +7 more	GConflicting classifications of pathogenicity
Select item 144080	NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)	SPEG (A972fs)	Indel (frameshift variant)	Myopathy, centronuclear, 5	GPathogenic
Select item 144079	NM_005876.5(SPEG):c.3709_3715+29del	SPEG	Deletion (splice donor variant)	Myopathy, centronuclear, 5	GPathogenic
Select item 144078	NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)	SPEG (R1426*)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 5	GPathogenic
Select item 144077	NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)	ASIC4-AS1, SPEG (Q2233*)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 5	GLikely pathogenic
Select item 144081	NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)	ASIC4-AS1, SPEG (G2757V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar