"PreventionGenetics, part of Exact Sciences"[submitter] AND "FRMD4A"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057736	NM_018027.5(FRMD4A):c.*2+6G>A	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 785306	NM_018027.5(FRMD4A):c.3065A>T (p.Asn1022Ile)	FRMD4A, PRPF18 (N1022I +3 more)	Single nucleotide variant (missense variant)	FRMD4A-related disorder +1 more	GBenign
Select item 779931	NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)	FRMD4A	Microsatellite (inframe_insertion)	FRMD4A-related disorder +2 more	GBenign/Likely benign
Select item 3039216	NM_018027.5(FRMD4A):c.2436C>T (p.Gly812=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 735148	NM_018027.5(FRMD4A):c.2151G>A (p.Lys717=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder +1 more	GLikely benign
Select item 3038740	NM_018027.5(FRMD4A):c.1986C>T (p.Leu662=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 709945	NM_018027.5(FRMD4A):c.1693C>T (p.Leu565=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3048052	NM_018027.5(FRMD4A):c.1689C>T (p.Ser563=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3057982	NM_018027.5(FRMD4A):c.1590G>A (p.Ser530=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3039928	NM_018027.5(FRMD4A):c.1284C>T (p.Pro428=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder	GLikely benign
Select item 3053224	NM_018027.5(FRMD4A):c.976-4C>G	FRMD4A	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 3051971	NM_018027.5(FRMD4A):c.442-10dup	FRMD4A	Duplication (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 780846	NM_018027.5(FRMD4A):c.363C>T (p.Asn121=)	FRMD4A	Single nucleotide variant (synonymous variant)	FRMD4A-related disorder +1 more	GBenign
Select item 3058066	NM_018027.5(FRMD4A):c.46-149138G>A	FRMD4A	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign