C0729582[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030125	NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser)	SRCAP (G66S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1033132	NM_006662.3(SRCAP):c.316A>G (p.Ile106Val)	SRCAP (I106V)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030129	NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser)	SRCAP (R318S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030124	NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser)	SRCAP (C477S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1033131	NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp)	SRCAP (R709W)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 3237540	NM_006662.3(SRCAP):c.2990T>C (p.Met997Thr)	SRCAP (M997T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1033133	NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe)	SRCAP (L1241F)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030126	NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser)	SRCAP (T1369S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2442052	NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)	SRCAP (V1824M)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030128	NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg)	SRCAP (P1938R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 689791	NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter)	SRCAP (C2429*)	Single nucleotide variant (nonsense)	Floating-Harbor syndrome	GPathogenic
Select item 2442099	NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)	SRCAP (R2768L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance