List of variants in gene BTD reported as uncertain significance by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	rs201023772	0.00022
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)	rs149690919	0.00017
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	rs141131444	0.00012
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)	rs144901367	0.00012
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	rs137877018	0.00010
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)	rs144084212	0.00005
NM_001370658.1(BTD):c.-38G>A	rs138473616	0.00004
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)	rs1024847163	0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met)	rs772369148	0.00004
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)	rs397514400	0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	rs200337373	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)	rs769903360	0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00002
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)	rs144575084	0.00002
NM_001370658.1(BTD):c.-59T>A	rs768258310	0.00001
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)	rs1379845261	0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)	rs886058115	0.00001
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)	rs775369290	0.00001
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)	rs147188293	0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	rs397514405	0.00001
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)	rs777799585	0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)	rs397514409	0.00001
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)	rs397514419	0.00001
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)	rs1223614917	0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	rs558477960	0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	rs764375610	0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)	rs397514366	0.00001
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)	rs541012569	0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)	rs397514376	0.00001
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)	rs767750851	0.00001
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)	rs1449860088	0.00001
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)	rs747059644	0.00001
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)	rs1465883743	0.00001
NC_000003.11:g.(?_15643358)_(15643421_?)dup
NC_000003.11:g.(?_15643358)_(15687154_?)dup
NM_001370658.1(BTD):c.-16-2A>G
NM_001370658.1(BTD):c.-17+19_-17+39del	rs1559571027
NM_001370658.1(BTD):c.-18A>G
NM_001370658.1(BTD):c.-51G>T
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)	rs763540316
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)	rs2065654912
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	rs374141881
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)	rs2125504798
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)	rs2125504955
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)	rs2125505114
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)	rs776369447
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)	rs2065663213
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)	rs559136372
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)	rs2125505641
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)	rs2125505856
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)	rs750598655
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)	rs774018881
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)	rs199859507
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)	rs2065326975
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)	rs397514346
NM_001370658.1(BTD):c.249+5G>T	rs2065329555
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)	rs1553653070
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)	rs776422082
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)	rs137877018
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	rs144717999
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)	rs184742694
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)	rs139829181
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)	rs549204682
NM_001370658.1(BTD):c.795G>C (p.Gln265His)	rs1553653855
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)	rs762757117
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)	rs762757117
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)	rs398123142
NM_001370658.1(BTD):c.846C>G (p.His282Gln)	rs2125502649
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)	rs397514433
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)

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