C0268238[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5351	NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys)	ABHD5, ANO10 (E7K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 5354	NM_016006.6(ABHD5):c.46_47del (p.Arg16fs)	ABHD5, ANO10 (R16fs)	Microsatellite (frameshift variant +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5348	NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)	ABHD5 (S33*)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5349	NM_016006.6(ABHD5):c.134-2A>G	ABHD5	Single nucleotide variant (splice acceptor variant)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5350	NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro)	ABHD5 (Q130P +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5352	NM_016006.6(ABHD5):c.594dup (p.Arg199fs)	ABHD5 (R199fs +1 more)	Duplication (frameshift variant +1 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5347	NM_016006.6(ABHD5):c.774-1G>A	ABHD5	Single nucleotide variant (intron variant +1 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5353	NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)	ABHD5 (E260K +1 more)	Single nucleotide variant (missense variant +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic

ClinVar