C1848207[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance
Select item 373970	NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)	POMT1 (R620Q +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 373923	NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg)	SNHG14, UBE3A (G738R +6 more)	Single nucleotide variant (missense variant +2 more)	EEG abnormality +5 more	GPathogenic
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic

ClinVar