"Illumina Laboratory Services, Illumina"[submitter] AND "BFSP2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 900394	NM_003571.4(BFSP2):c.-4G>A	BFSP2	Single nucleotide variant (5 prime UTR variant)	Cataract 12 multiple types	GLikely benign
Select item 343397	NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn)	BFSP2 (S2N)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 343398	NM_003571.4(BFSP2):c.75G>A (p.Ala25=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
Select item 343399	NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro)	BFSP2 (S34P)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 343400	NM_003571.4(BFSP2):c.162C>T (p.Pro54=)	BFSP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343401	NM_003571.4(BFSP2):c.246T>C (p.Ser82=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
Select item 343402	NM_003571.4(BFSP2):c.251dup (p.Leu85fs)	BFSP2 (L85fs)	Duplication (frameshift variant)	Cataract 12 multiple types	GUncertain significance
Select item 900455	NM_003571.4(BFSP2):c.285C>T (p.Thr95=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
Select item 343403	NM_003571.4(BFSP2):c.366G>A (p.Val122=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
Select item 343404	NM_003571.4(BFSP2):c.369C>T (p.His123=)	BFSP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 900456	NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr)	BFSP2 (A124T)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GConflicting classifications of pathogenicity
Select item 343405	NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu)	BFSP2 (Q127E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 900457	NM_003571.4(BFSP2):c.396G>A (p.Leu132=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GUncertain significance
Select item 343406	NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln)	BFSP2 (R137Q)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GBenign
Select item 343407	NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala)	BFSP2 (E141A)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 902119	NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys)	BFSP2 (R146C)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GBenign
Select item 343408	NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu)	BFSP2 (R146L)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GLikely benign
Select item 902120	NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp)	BFSP2, BFSP2-AS1 (R173W)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GConflicting classifications of pathogenicity
Select item 343409	NM_003571.4(BFSP2):c.567A>G (p.Lys189=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GUncertain significance
Select item 902121	NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly)	BFSP2, BFSP2-AS1 (E193G)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 632400	NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer)	BFSP2, BFSP2-AS1	Microsatellite (nonsense)	Cataract 12 multiple types	GUncertain significance
Select item 903006	NM_003571.4(BFSP2):c.667C>G (p.Leu223Val)	BFSP2, BFSP2-AS1 (L223V)	Single nucleotide variant (missense variant)	BFSP2-related condition +1 more	GBenign/Likely benign
Select item 343410	NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro)	BFSP2, BFSP2-AS1 (L234P)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 903007	NM_003571.4(BFSP2):c.720C>T (p.Asn240=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	BFSP2-related condition +1 more	GBenign/Likely benign
Select item 343411	NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys)	BFSP2, BFSP2-AS1 (Y241C)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 740805	NM_003571.4(BFSP2):c.730-7T>C	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	Cataract 12 multiple types	GBenign/Likely benign
Select item 343412	NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys)	BFSP2, BFSP2-AS1 (E289K)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 903008	NM_003571.4(BFSP2):c.918C>G (p.Ser306=)	BFSP2, BFSP2-AS1 +1 more	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GUncertain significance
Select item 660770	NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)	BFSP2-AS1, BFSP2 (A372V)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 259089	NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp)	BFSP2, BFSP2-AS1 (A407D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 899391	NM_003571.4(BFSP2):c.1244+8T>C	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	Cataract 12 multiple types	GUncertain significance
Select item 343413	NM_003571.4(BFSP2):c.*73C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GBenign
Select item 343414	NM_003571.4(BFSP2):c.*132G>C	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GUncertain significance
Select item 343415	NM_003571.4(BFSP2):c.*140del	BFSP2, BFSP2-AS1	Deletion (3 prime UTR variant)	Cataract	GLikely benign
Select item 343416	NM_003571.4(BFSP2):c.*159T>G	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GUncertain significance
Select item 343417	NM_003571.4(BFSP2):c.*209C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GLikely benign
Select item 899392	NM_003571.4(BFSP2):c.*225G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GUncertain significance
Select item 343418	NM_003571.4(BFSP2):c.*226C>A	BFSP2, BFSP2-AS1	Single nucleotide variant (3 prime UTR variant)	Cataract 12 multiple types	GUncertain significance

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Items: 38