"GeneDx"[submitter] AND "BFSP2-AS1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 1215026	NM_003571.4(BFSP2):c.490-300A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192357	NM_003571.4(BFSP2):c.572+160A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229325	NM_003571.4(BFSP2):c.573-216G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580545	NM_003571.4(BFSP2):c.683A>G (p.Glu228Gly)	BFSP2, BFSP2-AS1 (E228G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6584	NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)	BFSP2, BFSP2-AS1	Microsatellite (inframe_deletion)	Cataract 12 multiple types +1 more	GPathogenic
Select item 1229983	NM_003571.4(BFSP2):c.729+326dup	BFSP2, BFSP2-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1276319	NM_003571.4(BFSP2):c.730-323G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266428	NM_003571.4(BFSP2):c.730-320AAGG[12]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1241485	NM_003571.4(BFSP2):c.730-320_730-319insGGA	BFSP2, BFSP2-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1202831	NM_003571.4(BFSP2):c.730-320AAGG[14]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1193581	NM_003571.4(BFSP2):c.730-320AAGG[10]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1187661	NM_003571.4(BFSP2):c.730-320AAGG[13]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179548	NM_003571.4(BFSP2):c.730-320AAGG[11]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1284083	NM_003571.4(BFSP2):c.730-287A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284080	NM_003571.4(BFSP2):c.730-284_730-283insAGGAAGGAGGGA	BFSP2-AS1, BFSP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1231041	NM_003571.4(BFSP2):c.730-286GGAG[4]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1343880	NM_003571.4(BFSP2):c.730-66T>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190043	NM_003571.4(BFSP2):c.892-130G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187160	NM_003571.4(BFSP2):c.892-127G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300702	NM_003571.4(BFSP2):c.892-17G>C	LOC129937591, BFSP2 +1 more	Single nucleotide variant (intron variant)	Cataract 12 multiple types +1 more	GBenign/Likely benign
Select item 1192358	NM_003571.4(BFSP2):c.1023+31T>C	BFSP2, BFSP2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1280986	NM_003571.4(BFSP2):c.1023+199C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243514	NM_003571.4(BFSP2):c.1024-96A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259089	NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp)	BFSP2, BFSP2-AS1 (A407D)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +2 more	GBenign
Select item 1192359	NM_003571.4(BFSP2):c.1244+44A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1706185	NM_003571.4(BFSP2):c.1244+178A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205273	NM_003571.4(BFSP2):c.1244+264G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187253	NM_003571.4(BFSP2):c.1245-276A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221258	NM_003571.4(BFSP2):c.1245-256T>C	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 31