C0221357[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374158	NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)	NIPBL (G2081A)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 374202	NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)	TRPS1 (A932T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +5 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder +24 more	GPathogenic/Likely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Acanthosis nigricans +14 more	GPathogenic
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (intron variant +1 more)	Cushing syndrome +16 more	GPathogenic

ClinVar