ClinVar for OMIM (Select 123260) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693511	NM_005384.3(NFIL3):c.510G>A (p.Met170Ile)	NFIL3	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333751	NM_000176.3(NR3C1):c.66_68delinsAAA (p.Arg23Lys)	NR3C1 (R23K)	Indel (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 1065157	NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)	MAN2B2 (D38N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029361	NM_001622.4(AHSG):c.4A>T (p.Lys2Ter)	AHSG (K2*)	Single nucleotide variant (nonsense)	Alopecia-intellectual disability syndrome 1	GConflicting classifications of pathogenicity
Select item 16549	NM_000186.4(CFH):c.1204= (p.His402=)	CFH	Single nucleotide variant (no sequence alteration)	Age related macular degeneration 4 +1 more	GPathogenic; risk factor
Select item 15990	NM_000823.4(GHRHR):c.57+1G>A	GHRHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 14823	NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)	FCGR2A (H166R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 14718	NC_000007.14:g.22727026C>G	IL6, IL6-AS1 +1 more	Single nucleotide variant (genic upstream transcript variant)	Diabetes mellitus, type 1, susceptibility to +5 more	Gother; risk factor

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