List of variants reported as likely pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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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_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)	rs6068812	0.00084
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_000344.4(SMN1):c.77G>A (p.Gly26Asp)	rs1170466474	0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys)	rs755322824	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_000116.5(TAFAZZIN):c.109+5G>A	rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C	rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)	rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)	rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)	rs1085307797
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)	rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)	rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.778-2A>G	rs876661112
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)	rs397515750
NM_000117.3(EMD):c.46_82+6del	rs1557182198
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	rs1557182661
NM_000117.3(EMD):c.60del (p.Asn20fs)	rs886041854
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	rs1557182676
NM_000117.3(EMD):c.703_704insA (p.Phe235fs)	rs1557182708
NM_000344.4(SMN1):c.*3+1G>A	rs1290417835
NM_000344.4(SMN1):c.5C>T (p.Ala2Val)	rs1554066397
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro)	rs1561500885
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	rs104893922
NM_000344.4(SMN1):c.818A>T (p.His273Leu)	rs1554082114
NM_000344.4(SMN1):c.824G>A (p.Gly275Asp)	rs1561500920
NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)
NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)	rs775015070
NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs)
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)
NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)
NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)
NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)
NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)	rs28936672
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)
NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)	rs1057519223
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)	rs1057519223
NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)	rs1064792899
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu)	rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)	rs61751443
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)	rs1555815121
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)	rs869025339
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	rs121908596
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	rs397507511
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)	rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	rs869025340
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)	rs397507480
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu)	rs104893648
NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)	rs397517156
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs)	rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)	rs587784308
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)	rs1555204615
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	rs387906905
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser)	rs121913528
NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs)	rs1555305016

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