ClinVar for MedGen (Select 374138) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321270	NM_031407.7(HUWE1):c.12137+4A>G	HUWE1	Single nucleotide variant (intron variant)	Trigonocephaly-short stature-developmental delay syndrome	GUncertain significance
Select item 617512	NM_031407.7(HUWE1):c.145-2A>G	HUWE1	Single nucleotide variant (splice acceptor variant)	Trigonocephaly-short stature-developmental delay syndrome	GLikely pathogenic