Related gene-specific medical variations for Gene (Select 80167) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283522	NM_001358451.3(ABHD18):c.932C>T (p.Pro311Leu)	ABHD18, LOC132089026 (P108L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260288	NM_001358451.3(ABHD18):c.-201T>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1216033	NM_001358451.3(ABHD18):c.-150T>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 671191	NM_001358451.3(ABHD18):c.-83G>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 514836	NM_001358451.3(ABHD18):c.-18+291C>T	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 347546	NM_001358451.3(ABHD18):c.-18+315C>G	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7 +1 more	GBenign

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