"Blueprint Genetics"[submitter] AND "FLNB"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224460	NM_001457.4(FLNB):c.453C>A (p.Asn151Lys)	FLNB (N151K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 38961	NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)	FLNB (G168S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1224317	NM_001457.4(FLNB):c.605T>C (p.Met202Thr)	FLNB (M202T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224345	NM_001457.4(FLNB):c.695C>T (p.Thr232Ile)	FLNB (T232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224456	NM_001457.4(FLNB):c.2671G>C (p.Asp891His)	FLNB (D891H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224455	NM_001457.4(FLNB):c.3633A>C (p.Glu1211Asp)	FLNB (E1211D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224399	NM_001457.4(FLNB):c.3762C>G (p.Asp1254Glu)	FLNB (D1254E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224444	NM_001457.4(FLNB):c.4395G>C (p.Leu1465Phe)	FLNB (L1465F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224359	NM_001457.4(FLNB):c.4532T>G (p.Val1511Gly)	FLNB (V1511G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224373	NM_001457.4(FLNB):c.4640C>A (p.Ala1547Asp)	FLNB (A1547D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224390	NM_001457.4(FLNB):c.6679T>G (p.Ser2227Ala)	FLNB (S2203A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance