C0020676[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373957	NM_015100.4(POGZ):c.402_409dup (p.His137fs)	POGZ (H137fs +1 more)	Duplication (frameshift variant +1 more)	Short metacarpal +6 more	GLikely pathogenic
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Hypotonia +7 more	GUncertain significance
Select item 374090	NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)	CHD7 (Q2298*)	Single nucleotide variant (nonsense +1 more)	Dolichocephaly +5 more	GPathogenic
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +17 more	GPathogenic/Likely pathogenic
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523539	NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)	HUWE1 (R2162P)	Single nucleotide variant (missense variant)	Ventricular septal defect +7 more	GUncertain significance

ClinVar