"PreventionGenetics, part of Exact Sciences"[submitter] AND "AGBL4"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056820	NM_032785.4(AGBL4):c.1327G>A (p.Val443Met)	AGBL4 (V443M +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related disorder	GBenign
Select item 3048435	NM_032785.4(AGBL4):c.1124G>A (p.Arg375Gln)	AGBL4 (R375Q +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related disorder	GBenign
Select item 3055503	NM_032785.4(AGBL4):c.725-4C>T	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related disorder	GBenign
Select item 3044099	NM_032785.4(AGBL4):c.696G>A (p.Gly232=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related disorder	GLikely benign
Select item 3055894	NM_032785.4(AGBL4):c.644G>A (p.Arg215Gln)	AGBL4 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	AGBL4-related disorder	GBenign
Select item 3041700	NM_032785.4(AGBL4):c.595-7T>G	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related disorder	GLikely benign
Select item 3037739	NM_032785.4(AGBL4):c.594+8C>T	AGBL4	Single nucleotide variant (intron variant)	AGBL4-related disorder	GBenign
Select item 3060380	NM_032785.4(AGBL4):c.426T>C (p.His142=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related disorder	GBenign
Select item 3050134	NM_032785.4(AGBL4):c.300T>C (p.Ile100=)	AGBL4	Single nucleotide variant (synonymous variant +1 more)	AGBL4-related disorder	GLikely benign
Select item 3054422	NM_032785.4(AGBL4):c.282+7G>A	AGBL4 (E97K)	Single nucleotide variant (missense variant +1 more)	AGBL4-related disorder	GLikely benign