C0729582[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065814	NM_006662.3(SRCAP):c.955C>T (p.Arg319Cys)	SRCAP (R319C)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GLikely benign
Select item 3065451	NM_006662.3(SRCAP):c.3547G>A (p.Glu1183Lys)	SRCAP (E1183K)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GLikely benign
Select item 3064913	NM_006662.3(SRCAP):c.4429A>G (p.Thr1477Ala)	SRCAP (T1477A)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 3064380	NM_006662.3(SRCAP):c.5594C>T (p.Thr1865Ile)	SRCAP (T1865I)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 3064470	NM_006662.3(SRCAP):c.7409C>A (p.Ala2470Asp)	SRCAP (A2470D)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance

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