C1859570[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585191	NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	BBS12 (F22S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 944241	NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)	BBS12 (R27G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 462963	NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	BBS12 (S35*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1054028	NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)	BBS12 (S47N)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 968505	NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)	BBS12 (S51T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1408984	NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)	BBS12 (L56F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1075926	NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	BBS12 (E58*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 968094	NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)	BBS12 (S64T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 847519	NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)	BBS12 (G67E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 855109	NM_152618.3(BBS12):c.344T>C (p.Val115Ala)	BBS12 (V115A)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 1373840	NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)	BBS12 (G119D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 1477148	NM_152618.3(BBS12):c.382G>A (p.Val128Ile)	BBS12 (V128I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 1499725	NM_152618.3(BBS12):c.400G>T (p.Val134Phe)	BBS12 (V134F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 555890	NM_152618.3(BBS12):c.424dup (p.Asp142fs)	BBS12 (D142fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1069707	NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)	BBS12 (Q149*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1472903	NM_152618.3(BBS12):c.508A>G (p.Ile170Val)	BBS12 (I170V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1653062	NM_152618.3(BBS12):c.555C>T (p.Thr185=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 952264	NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)	BBS12 (G191R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 558497	NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	BBS12 (R214*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 585192	NM_152618.3(BBS12):c.670dup (p.Thr224fs)	BBS12 (T224fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 557758	NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	BBS12 (Q228fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1045887	NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)	BBS12 (R239K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 550824	NM_152618.3(BBS12):c.787T>C (p.Tyr263His)	BBS12 (Y263H)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 1003786	NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)	BBS12 (D267E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1406833	NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)	BBS12 (E270A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 551644	NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)	BBS12 (E288del)	Microsatellite (inframe_deletion)	Retinal dystrophy +3 more	GUncertain significance
Select item 1073016	NM_152618.3(BBS12):c.869_873del (p.Val290fs)	BBS12 (V290fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 702923	NM_152618.3(BBS12):c.882T>C (p.Tyr294=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GLikely benign
Select item 970839	NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)	BBS12 (S328del)	Microsatellite (inframe_deletion)	BBS12-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +5 more	GPathogenic
Select item 371339	NM_152618.3(BBS12):c.1082del (p.Gly361fs)	BBS12 (G361fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1179065	NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)	BBS12 (N366fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 1151	NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	BBS12	Deletion (nonsense)	BBS12-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 501682	NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)	BBS12 (K379E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GUncertain significance
Select item 188395	NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)	BBS12 (T380I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GUncertain significance
Select item 550298	NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)	BBS12 (V381fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 550386	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	BBS12 (S384fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 347499	NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)	BBS12 (R386W)	Single nucleotide variant (missense variant)	BBS12-related disorder +3 more	GUncertain significance
Select item 281597	NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	BBS12 (V400M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GUncertain significance
Select item 1404396	NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)	BBS12 (R421C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 347501	NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)	BBS12 (R421S)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 939406	NM_152618.3(BBS12):c.1262G>A (p.Arg421His)	BBS12 (R421H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1030269	NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	BBS12 (C426R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 553411	NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)	BBS12 (K430fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 901704	NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)	BBS12 (K430R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 751941	NM_152618.3(BBS12):c.1323G>A (p.Val441=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 941568	NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)	BBS12 (G450R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 531820	NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	BBS12 (Q459*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1009578	NM_152618.3(BBS12):c.1411G>A (p.Val471Met)	BBS12 (V471M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 851247	NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)	BBS12 (R487K)	Single nucleotide variant (missense variant)	BBS12-related disorder +3 more	GUncertain significance
Select item 837845	NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)	BBS12 (A489T)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 1117072	NM_152618.3(BBS12):c.1467A>G (p.Ala489=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder +2 more	GLikely benign
Select item 1382348	NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)	BBS12 (I490V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 585190	NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	BBS12 (T501M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GPathogenic/Likely pathogenic
Select item 555933	NM_152618.3(BBS12):c.1507G>A (p.Val503Met)	BBS12 (V503M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 389871	NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)	BBS12 (V503L)	Single nucleotide variant (missense variant)	BBS12-related disorder +4 more	GUncertain significance
Select item 595422	NM_152618.3(BBS12):c.1658T>A (p.Leu553His)	BBS12 (L553H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 1071069	NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	BBS12 (E555fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1026511	NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)	BBS12 (N571S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 283879	NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)	BBS12 (T617A)	Single nucleotide variant (missense variant)	BBS12-related disorder +3 more	GUncertain significance
Select item 704430	NM_152618.3(BBS12):c.1884C>T (p.Asp628=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GLikely benign
Select item 866623	NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	BBS12 (P632fs)	Microsatellite (frameshift variant)	BBS12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 990257	NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)	BBS12 (I636T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 1423993	NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)	BBS12 (N638S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1617504	NM_152618.3(BBS12):c.1917A>G (p.Glu639=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 552661	NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)	BBS12 (S645del)	Microsatellite (inframe_deletion)	BBS12-related disorder +2 more	GUncertain significance
Select item 553671	NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	BBS12 (S650*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 195414	NM_152618.3(BBS12):c.2021G>A (p.Arg674His)	BBS12 (R674H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	BBS12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1486748	NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)	BBS12 (R675Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 572304	NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)	BBS12 (D687fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 858778	NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)	BBS12 (T705M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GUncertain significance

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Items: 72