ClinVar for Gene (Select 8419) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049435	NM_003571.4(BFSP2):c.790A>G (p.Ile264Val)	BFSP2, BFSP2-AS1 (I264V)	Single nucleotide variant (missense variant)	BFSP2-related condition	GLikely benign
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 2860615	NM_003571.4(BFSP2):c.185C>A (p.Pro62His)	BFSP2 (P62H)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 2715249	NM_003571.4(BFSP2):c.215G>A (p.Arg72His)	BFSP2 (R72H)	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 condition	GUncertain significance
Select item 2617661	NM_003571.4(BFSP2):c.130A>G (p.Thr44Ala)	BFSP2 (T44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605941	NM_003571.4(BFSP2):c.349G>A (p.Glu117Lys)	BFSP2 (E117K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600571	NM_003571.4(BFSP2):c.254T>A (p.Leu85His)	BFSP2 (L85H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596551	NM_003571.4(BFSP2):c.1231A>G (p.Arg411Gly)	BFSP2, BFSP2-AS1 (R411G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2569163	NM_003571.4(BFSP2):c.227G>A (p.Arg76Gln)	BFSP2 (R76Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547206	NM_003571.4(BFSP2):c.727G>A (p.Glu243Lys)	BFSP2, BFSP2-AS1 (E243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530179	NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)	BFSP2 (L153Q)	Single nucleotide variant (missense variant)	Cataract 12 multiple types +1 more	GUncertain significance
Select item 2496304	NM_003571.4(BFSP2):c.806A>G (p.Asp269Gly)	BFSP2, BFSP2-AS1 (D269G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2465893	NM_003571.4(BFSP2):c.196A>G (p.Ile66Val)	BFSP2 (I66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439511	NM_003571.4(BFSP2):c.461G>T (p.Arg154Leu)	BFSP2 (R154L)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 2439510	NM_003571.4(BFSP2):c.27C>G (p.Asp9Glu)	BFSP2 (D9E)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 2413884	NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)	BFSP2 (G64W)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GUncertain significance
Select item 2411327	NM_003571.4(BFSP2):c.235G>A (p.Gly79Ser)	BFSP2 (G79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371804	NM_003571.4(BFSP2):c.1111G>A (p.Glu371Lys)	BFSP2-AS1, BFSP2 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341951	NM_003571.4(BFSP2):c.550G>A (p.Gly184Arg)	BFSP2-AS1, BFSP2 (G184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330679	NM_003571.4(BFSP2):c.707C>G (p.Ser236Cys)	BFSP2-AS1, BFSP2 (S236C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315690	NM_003571.4(BFSP2):c.163G>A (p.Gly55Arg)	BFSP2 (G55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2315444	NM_003571.4(BFSP2):c.445A>G (p.Asn149Asp)	BFSP2 (N149D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256244	NM_003571.4(BFSP2):c.262C>A (p.Leu88Met)	BFSP2 (L88M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251242	NM_003571.4(BFSP2):c.232C>A (p.Leu78Ile)	BFSP2 (L78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2227757	NM_003571.4(BFSP2):c.1160A>G (p.Glu387Gly)	BFSP2-AS1, BFSP2 (E387G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2 (W150*)	Single nucleotide variant (nonsense)	Strabismus +6 more	GPathogenic
Select item 1706185	NM_003571.4(BFSP2):c.1244+178A>G	BFSP2-AS1, BFSP2	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 1556763	NM_003571.4(BFSP2):c.51C>T (p.Ser17=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GLikely benign
Select item 1513087	NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del)	BFSP2 (V116del)	Microsatellite (inframe_deletion)	Cataract 12 multiple types	GUncertain significance
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 1459503	NC_000003.11:g.(?_132379382)_(133191429_?)del	BFSP2, NPHP3 +2 more	Deletion	Nephronophthisis	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
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 1306035	NM_003571.4(BFSP2):c.155G>A (p.Arg52Gln)	BFSP2 (R52Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300702	NM_003571.4(BFSP2):c.892-17G>C	BFSP2, BFSP2-AS1 +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, BFSP2-AS1	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 1279323	NM_003571.4(BFSP2):c.489+286A>G	BFSP2	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 1262752	NM_003571.4(BFSP2):c.489+314G>A	BFSP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259785	NM_003571.4(BFSP2):c.489+210G>A	BFSP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259269	NC_000003.12:g.133399728C>T	BFSP2	Single nucleotide variant (genic upstream transcript 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)	Cataract 12 multiple types +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 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
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	GBenign
Select item 1118999	NM_003571.4(BFSP2):c.24G>A (p.Val8=)	BFSP2	Single nucleotide variant (synonymous variant)	BFSP2-related condition +1 more	GLikely benign
Select item 1065595	NM_003571.4(BFSP2):c.265C>T (p.Arg89Trp)	BFSP2 (R89W)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1031336	NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter)	BFSP2 (R5*)	Single nucleotide variant (nonsense)	Cataract 12 multiple types	GUncertain significance
Select item 980058	GRCh37/hg19 3q22.1(chr3:132518775-133216149)x3	BFSP2, TMEM108	Copy number gain	not provided	GUncertain significance
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)	BFSP2-related condition +1 more	GBenign/Likely benign
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 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 902119	NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys)	BFSP2 (R146C)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GBenign
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 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 900455	NM_003571.4(BFSP2):c.285C>T (p.Thr95=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
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 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	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 646545	NM_003571.4(BFSP2):c.166del (p.Val56fs)	BFSP2 (V56fs)	Deletion (frameshift variant)	Cataract 12 multiple types	GPathogenic
Select item 632400	NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer)	BFSP2, BFSP2-AS1	Microsatellite (nonsense)	Cataract 12 multiple types	GUncertain significance

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