Related gene-specific medical variations for Gene (Select 85003) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260833	NM_003571.4(BFSP2):c.1175T>C (p.Leu392Pro)	BFSP2, BFSP2-AS1 (L392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260831	NM_003571.4(BFSP2):c.1071C>A (p.Asp357Glu)	BFSP2, BFSP2-AS1 (D357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220926	NM_003571.4(BFSP2):c.598_599insGGC (p.Lys200delinsArgGln)	BFSP2, BFSP2-AS1	Insertion (inframe_indel)	Cataract 12 multiple types	GUncertain significance
Select item 3133790	NM_003571.4(BFSP2):c.949C>G (p.Leu317Val)	BFSP2, BFSP2-AS1 +1 more (L317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133789	NM_003571.4(BFSP2):c.847G>A (p.Val283Ile)	BFSP2, BFSP2-AS1 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133788	NM_003571.4(BFSP2):c.845A>G (p.Asp282Gly)	BFSP2, BFSP2-AS1 (D282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049435	NM_003571.4(BFSP2):c.790A>G (p.Ile264Val)	BFSP2, BFSP2-AS1 (I264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2886464	NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)	BFSP2, BFSP2-AS1 (L294F)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 2632114	NM_003571.4(BFSP2):c.892-3C>G	BFSP2, BFSP2-AS1 +1 more	Single nucleotide variant (intron variant)	BFSP2-related disorder	GUncertain significance
Select item 2596551	NM_003571.4(BFSP2):c.1231A>G (p.Arg411Gly)	BFSP2, BFSP2-AS1 (R411G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2547206	NM_003571.4(BFSP2):c.727G>A (p.Glu243Lys)	BFSP2, BFSP2-AS1 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496304	NM_003571.4(BFSP2):c.806A>G (p.Asp269Gly)	BFSP2, BFSP2-AS1 (D269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487039	NM_003571.4(BFSP2):c.947C>A (p.Ala316Asp)	BFSP2, BFSP2-AS1 +1 more (A316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371804	NM_003571.4(BFSP2):c.1111G>A (p.Glu371Lys)	BFSP2, BFSP2-AS1 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341951	NM_003571.4(BFSP2):c.550G>A (p.Gly184Arg)	BFSP2, BFSP2-AS1 (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330679	NM_003571.4(BFSP2):c.707C>G (p.Ser236Cys)	BFSP2, BFSP2-AS1 (S236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235099	NM_003571.4(BFSP2):c.933G>C (p.Glu311Asp)	BFSP2, BFSP2-AS1 +1 more (E311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227757	NM_003571.4(BFSP2):c.1160A>G (p.Glu387Gly)	BFSP2, BFSP2-AS1 (E387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227638	NM_003571.4(BFSP2):c.1015C>T (p.Arg339Cys)	BFSP2, BFSP2-AS1 +1 more (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001969	NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)	BFSP2, BFSP2-AS1 (E380K)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
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 1623008	NM_003571.4(BFSP2):c.522C>T (p.Leu174=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GLikely benign
Select item 1571023	NM_003571.4(BFSP2):c.859C>A (p.Arg287=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GLikely benign
Select item 1470513	NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly)	BFSP2, BFSP2-AS1 (V367G)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 1442993	NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg)	BFSP2, BFSP2-AS1 (K353R)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
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 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 1299285	NM_003571.4(BFSP2):c.1199A>T (p.Lys400Met)	BFSP2, BFSP2-AS1 (K400M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1280986	NM_003571.4(BFSP2):c.1023+199C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (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 1243514	NM_003571.4(BFSP2):c.1024-96A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (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 1231041	NM_003571.4(BFSP2):c.730-286GGAG[4]	BFSP2, BFSP2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1229983	NM_003571.4(BFSP2):c.729+326dup	BFSP2, BFSP2-AS1	Duplication (intron variant)	not provided	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 1221258	NM_003571.4(BFSP2):c.1245-256T>C	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1205273	NM_003571.4(BFSP2):c.1244+264G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1192359	NM_003571.4(BFSP2):c.1244+44A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1192357	NM_003571.4(BFSP2):c.572+160A>G	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1187661	NM_003571.4(BFSP2):c.730-320AAGG[13]	BFSP2, BFSP2-AS1	Microsatellite (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 1187160	NM_003571.4(BFSP2):c.892-127G>A	BFSP2, BFSP2-AS1	Single nucleotide variant (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 1164247	NM_003571.4(BFSP2):c.603G>A (p.Ala201=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types +1 more	GBenign
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 903007	NM_003571.4(BFSP2):c.720C>T (p.Asn240=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
Select item 903006	NM_003571.4(BFSP2):c.667C>G (p.Leu223Val)	BFSP2, BFSP2-AS1 (L223V)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GBenign/Likely benign
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 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 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 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 856280	NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp)	BFSP2, BFSP2-AS1 (E289D)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GUncertain significance
Select item 744871	NM_003571.4(BFSP2):c.888T>G (p.Ala296=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GLikely benign
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 726950	NM_003571.4(BFSP2):c.490-8C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 660770	NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)	BFSP2, BFSP2-AS1 (A372V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 474094	NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser)	BFSP2, BFSP2-AS1 +1 more (R318S)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GLikely benign
Select item 474093	NM_003571.4(BFSP2):c.603= (p.Ala201=)	BFSP2, BFSP2-AS1	Single nucleotide variant (no sequence alteration)	Cataract 12 multiple types	GBenign
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
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 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 343415	NM_003571.4(BFSP2):c.*140del	BFSP2, BFSP2-AS1	Deletion (3 prime UTR variant)	Cataract	GLikely benign
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 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 343412	NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys)	BFSP2-AS1, BFSP2 (E289K)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GConflicting classifications of pathogenicity
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 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 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 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 252953	NM_003571.4(BFSP2):c.1136C>A (p.Ala379Glu)	BFSP2, BFSP2-AS1 (A379E)	Single nucleotide variant (missense variant)	Developmental cataract	GBenign
Select item 100844	NM_003571.4(BFSP2):c.861G>A (p.Arg287=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous 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 6583	NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)	BFSP2, BFSP2-AS1 (R287W)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GPathogenic

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Links from Gene

Items: 83