Related gene-specific medical variations for Gene (Select 619373) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658513	NM_001100916.2(MBOAT4):c.657C>T (p.Asn219=)	LEPROTL1, MBOAT4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591291	NM_001100916.2(MBOAT4):c.491C>T (p.Pro164Leu)	LEPROTL1, MBOAT4 (P164L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512059	NM_001100916.2(MBOAT4):c.1160A>G (p.Gln387Arg)	LEPROTL1, MBOAT4 (Q387R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491465	NM_001100916.2(MBOAT4):c.464T>C (p.Leu155Ser)	LEPROTL1, MBOAT4 (L155S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391125	NM_001100916.2(MBOAT4):c.344+1253C>T	LEPROTL1, MBOAT4 (R96H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252753	NM_001100916.2(MBOAT4):c.1123A>G (p.Arg375Gly)	LEPROTL1, MBOAT4 (R375G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249662	NM_001100916.2(MBOAT4):c.1283C>T (p.Ala428Val)	LEPROTL1, MBOAT4 (A428V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2212541	NM_001100916.2(MBOAT4):c.1118C>T (p.Pro373Leu)	LEPROTL1, MBOAT4 (P373L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205733	NM_001100916.2(MBOAT4):c.344+1243G>T	LEPROTL1, MBOAT4 (F99L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784126	NM_001100916.2(MBOAT4):c.858C>T (p.Pro286=)	LEPROTL1, MBOAT4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 742348	NM_001100916.2(MBOAT4):c.828T>A (p.Gly276=)	LEPROTL1, MBOAT4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734148	NM_001100916.2(MBOAT4):c.566G>A (p.Arg189His)	LEPROTL1, MBOAT4 (R189H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709877	NM_001100916.2(MBOAT4):c.1306T>C (p.Ter436Arg)	LEPROTL1, MBOAT4	Single nucleotide variant (stop lost +1 more)	not provided	GBenign