1041[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 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 1259269	NC_000003.12:g.133399728C>T	BFSP2	Single nucleotide variant (genic upstream transcript variant)	not provided	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 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 1031336	NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter)	BFSP2 (R5*)	Single nucleotide variant (nonsense)	Cataract 12 multiple types	GUncertain significance
Select item 1118999	NM_003571.4(BFSP2):c.24G>A (p.Val8=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types +1 more	GLikely benign
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 1556763	NM_003571.4(BFSP2):c.51C>T (p.Ser17=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GLikely benign
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 2617661	NM_003571.4(BFSP2):c.130A>G (p.Thr44Ala)	BFSP2 (T44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 343400	NM_003571.4(BFSP2):c.162C>T (p.Pro54=)	BFSP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2315690	NM_003571.4(BFSP2):c.163G>A (p.Gly55Arg)	BFSP2 (G55R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 646545	NM_003571.4(BFSP2):c.166del (p.Val56fs)	BFSP2 (V56fs)	Deletion (frameshift variant)	Cataract 12 multiple types	GPathogenic
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 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 2465893	NM_003571.4(BFSP2):c.196A>G (p.Ile66Val)	BFSP2 (I66V)	Single nucleotide variant (missense variant)	not specified	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 3133786	NM_003571.4(BFSP2):c.223C>T (p.Arg75Cys)	BFSP2 (R75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569163	NM_003571.4(BFSP2):c.227G>A (p.Arg76Gln)	BFSP2 (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251242	NM_003571.4(BFSP2):c.232C>A (p.Leu78Ile)	BFSP2 (L78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411327	NM_003571.4(BFSP2):c.235G>A (p.Gly79Ser)	BFSP2 (G79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2600571	NM_003571.4(BFSP2):c.254T>A (p.Leu85His)	BFSP2 (L85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256244	NM_003571.4(BFSP2):c.262C>A (p.Leu88Met)	BFSP2 (L88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 900455	NM_003571.4(BFSP2):c.285C>T (p.Thr95=)	BFSP2	Single nucleotide variant (synonymous variant)	Cataract 12 multiple types	GBenign
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 2605941	NM_003571.4(BFSP2):c.349G>A (p.Glu117Lys)	BFSP2 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3260832	NM_003571.4(BFSP2):c.368A>G (p.His123Arg)	BFSP2 (H123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2315444	NM_003571.4(BFSP2):c.445A>G (p.Asn149Asp)	BFSP2 (N149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133787	NM_003571.4(BFSP2):c.449G>C (p.Trp150Ser)	BFSP2 (W150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2 (W150*)	Single nucleotide variant (nonsense)	Intellectual disability +6 more	GPathogenic
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 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 1259785	NM_003571.4(BFSP2):c.489+210G>A	BFSP2	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 1262752	NM_003571.4(BFSP2):c.489+314G>A	BFSP2	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 726950	NM_003571.4(BFSP2):c.490-8C>T	BFSP2, BFSP2-AS1	Single nucleotide variant (intron variant)	not provided	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 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 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 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 1192357	NM_003571.4(BFSP2):c.572+160A>G	BFSP2-AS1, BFSP2	Single nucleotide variant (intron variant)	Cataract 12 multiple types +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 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 3220926	NM_003571.4(BFSP2):c.598_599insGGC (p.Lys200delinsArgGln)	BFSP2, BFSP2-AS1	Insertion (inframe_indel)	Cataract 12 multiple types	GUncertain significance
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 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 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 disorder +1 more	GBenign/Likely benign
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)	not provided +1 more	GPathogenic
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 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 903007	NM_003571.4(BFSP2):c.720C>T (p.Asn240=)	BFSP2-AS1, BFSP2	Single nucleotide variant (synonymous variant)	BFSP2-related disorder +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 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 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 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 3049435	NM_003571.4(BFSP2):c.790A>G (p.Ile264Val)	BFSP2, BFSP2-AS1 (I264V)	Single nucleotide variant (missense variant)	BFSP2-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 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 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 6583	NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)	BFSP2, BFSP2-AS1 (R287W)	Single nucleotide variant (missense variant)	Cataract 12 multiple types	GPathogenic
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 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 856280	NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp)	BFSP2, BFSP2-AS1 (E289D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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