"MBOAT7-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594731	NM_024298.5(MBOAT7):c.1006G>A (p.Ala336Thr)	MBOAT7 (A263T +1 more)	Single nucleotide variant (missense variant)	MBOAT7-related disorder +1 more	GUncertain significance
Select item 3036984	NM_024298.5(MBOAT7):c.943G>A (p.Asp315Asn)	MBOAT7 (D242N +1 more)	Single nucleotide variant (missense variant)	MBOAT7-related disorder	GUncertain significance
Select item 3050314	NM_024298.5(MBOAT7):c.885C>T (p.Asp295=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
Select item 3055118	NM_024298.5(MBOAT7):c.854+7C>T	MBOAT7	Single nucleotide variant (intron variant)	MBOAT7-related disorder	GLikely benign
Select item 3050830	NM_024298.5(MBOAT7):c.795C>T (p.Pro265=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
Select item 3053791	NM_024298.5(MBOAT7):c.655_736dup (p.Tyr246Ter)	MBOAT7 (Y173* +1 more)	Duplication (nonsense)	MBOAT7-related disorder	GLikely pathogenic
Select item 3026032	NM_024298.5(MBOAT7):c.654C>G (p.Arg218=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043262	NM_024298.5(MBOAT7):c.494-3C>T	MBOAT7	Single nucleotide variant (intron variant)	MBOAT7-related disorder	GLikely benign
Select item 3046898	NM_024298.5(MBOAT7):c.120G>A (p.Gly40=)	MBOAT7 (A10T)	Single nucleotide variant (missense variant +1 more)	MBOAT7-related disorder	GLikely benign
Select item 3046798	NM_024298.5(MBOAT7):c.114C>T (p.Gly38=)	MBOAT7 (P8S)	Single nucleotide variant (missense variant +1 more)	MBOAT7-related disorder	GLikely benign