"PreventionGenetics, part of Exact Sciences"[submitter] AND "LUZP4"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035565	NM_016383.5(LUZP4):c.537G>A (p.Gln179=)	LUZP4	Single nucleotide variant (synonymous variant)	LUZP4-related disorder	GLikely benign
Select item 3056343	NM_016383.5(LUZP4):c.600A>G (p.Gln200=)	LUZP4	Single nucleotide variant (synonymous variant)	LUZP4-related disorder	GBenign
Select item 3049401	NM_016383.5(LUZP4):c.625GAGAGATCTCATGGTCACTCA[2] (p.202ERSHGHS[3])	LUZP4	Microsatellite (inframe deletion)	LUZP4-related disorder	GLikely benign
Select item 3050593	NM_016383.5(LUZP4):c.770_790del (p.Lys257_Gln263del)	LUZP4	Deletion (inframe deletion)	LUZP4-related disorder	GLikely benign
Select item 3039850	NM_016383.5(LUZP4):c.916A>G (p.Thr306Ala)	LUZP4 (T224A +1 more)	Single nucleotide variant (missense variant)	LUZP4-related disorder	GLikely benign

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