"MGLL-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039230	NM_007283.7(MGLL):c.919G>A (p.Ala307Thr)	MGLL (A267T +6 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 3043265	NM_007283.7(MGLL):c.873C>T (p.Ser291=)	MGLL	Single nucleotide variant (synonymous variant)	MGLL-related disorder	GLikely benign
Select item 3056921	NM_007283.7(MGLL):c.753A>G (p.Leu251=)	MGLL	Single nucleotide variant (synonymous variant)	MGLL-related disorder	GBenign
Select item 3042845	NM_007283.7(MGLL):c.658G>A (p.Gly220Ser)	MGLL (G180S +6 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 767929	NM_007283.7(MGLL):c.438G>A (p.Pro146=)	MGLL	Single nucleotide variant (synonymous variant)	MGLL-related disorder +1 more	GBenign/Likely benign
Select item 3035437	NM_007283.7(MGLL):c.319G>A (p.Val107Ile)	MGLL (V107I +2 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 3040469	NM_007283.7(MGLL):c.255C>T (p.His85=)	MGLL	Single nucleotide variant (synonymous variant +1 more)	MGLL-related disorder	GBenign
Select item 767930	NM_007283.7(MGLL):c.192C>T (p.His64=)	MGLL	Single nucleotide variant (synonymous variant +1 more)	MGLL-related disorder +1 more	GBenign/Likely benign
Select item 3035490	NM_007283.7(MGLL):c.155+7C>G	MGLL	Single nucleotide variant (intron variant)	MGLL-related disorder	GLikely benign
Select item 2672955	NM_007283.7(MGLL):c.47C>T (p.Ser16Phe)	MGLL (S16F +1 more)	Single nucleotide variant (missense variant +1 more)	MGLL-related disorder +1 more	GBenign