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41 records found for search term Hey1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150469676CV1243196single nucleotide variantNM_012258.4(HEY1):c.*159A>Tnot provided [RCV001650716]benign87976502979765029Humanname
150462155CV1214604single nucleotide variantNM_012258.4(HEY1):c.331+21G>Tnot provided [RCV001613597]benign87976663079766630Humanname
150510281CV1211529deletionNM_012258.4(HEY1):c.331+353delnot provided [RCV001597321]benign87976629879766298Humanname
150502866CV1212340duplicationNM_012258.4(HEY1):c.332-300dupnot provided [RCV001595214]benign87976606579766066Humanname
150452204CV1220967single nucleotide variantNM_012258.4(HEY1):c.332-116C>Tnot provided [RCV001612061]benign87976588779765887Humanname
150467714CV1255952single nucleotide variantNM_012258.4(HEY1):c.332-421A>Gnot provided [RCV001670586]benign87976619279766192Humanname
405266931CV3202067single nucleotide variantNM_012258.4(HEY1):c.18C>G (p.Pro6=)HEY1-related disorder [RCV003911548]benign87976764679767646Humanname , trait , alternate_id
405280927CV3190658single nucleotide variantNM_012258.4(HEY1):c.30C>T (p.Ser10=)HEY1-related disorder [RCV003907095]likely benign87976763479767634Humanname , trait , alternate_id
405286819CV3213785single nucleotide variantNM_012258.4(HEY1):c.33G>C (p.Ser11=)HEY1-related disorder [RCV003924184]likely benign87976763179767631Humanname , trait , alternate_id
150457014CV1219564deletionNM_012258.4(HEY1):c.331+386_331+392delHEY1-related disorder [RCV003980795]|not provided [RCV001612779]benign87976625979766265Humanname , trait , alternate_id
155969882CV2241240single nucleotide variantNM_012258.4(HEY1):c.56T>C (p.Ile19Thr)not specified [RCV004102398]uncertain significance87976760879767608Humanname
401924043CV2821157single nucleotide variantNM_012258.4(HEY1):c.375G>A (p.Leu125=)HEY1-related disorder [RCV003954203]|not provided [RCV003435542]likely benign87976572879765728Humanname , trait , alternate_id
405280054CV3200238single nucleotide variantNM_012258.4(HEY1):c.384G>A (p.Arg128=)HEY1-related disorder [RCV003977155]likely benign87976571979765719Humanname , trait , alternate_id
405274597CV3208940single nucleotide variantNM_012258.4(HEY1):c.396A>C (p.Ala132=)HEY1-related disorder [RCV003951720]likely benign87976570779765707Humanname , trait , alternate_id
405290232CV3221479single nucleotide variantNM_012258.4(HEY1):c.888T>C (p.Pro296=)HEY1-related disorder [RCV003962242]likely benign87976521579765215Humanname , trait , alternate_id
598128224CV3887422single nucleotide variantNM_012258.4(HEY1):c.468G>T (p.Ser156=)not provided [RCV005243595]likely benign87976563579765635Humanname
598177267CV3978688single nucleotide variantNM_012258.4(HEY1):c.46G>C (p.Asp16His)not specified [RCV005351802]uncertain significance87976761879767618Humanname
401717653CV2710408single nucleotide variantNM_012258.4(HEY1):c.110G>T (p.Gly37Val)not specified [RCV004317566]uncertain significance87976727479767274Humanname
401725159CV2725724single nucleotide variantNM_012258.4(HEY1):c.124A>G (p.Thr42Ala)not specified [RCV004322416]uncertain significance87976726079767260Humanname
401887078CV2777079single nucleotide variantNM_012258.4(HEY1):c.127A>C (p.Thr43Pro)not specified [RCV004351865]uncertain significance87976725779767257Humanname
405776826CV3273936single nucleotide variantNM_012258.4(HEY1):c.277A>T (p.Ile93Phe)not specified [RCV004396911]uncertain significance87976670579766705Humanname
156055084CV2243151single nucleotide variantNM_012258.4(HEY1):c.716C>T (p.Pro239Leu)not specified [RCV004110055]uncertain significance87976538779765387Humanname
156011755CV2358777single nucleotide variantNM_012258.4(HEY1):c.422T>C (p.Ile141Thr)not specified [RCV004210084]uncertain significance87976568179765681Humanname
156009169CV2361968single nucleotide variantNM_012258.4(HEY1):c.340G>A (p.Asp114Asn)not specified [RCV004207735]uncertain significance87976576379765763Humanname
156257483CV2369385single nucleotide variantNM_012258.4(HEY1):c.559C>T (p.His187Tyr)not specified [RCV004208286]uncertain significance87976554479765544Humanname
156049412CV2370827single nucleotide variantNM_012258.4(HEY1):c.526G>A (p.Gly176Arg)not specified [RCV004209220]uncertain significance87976557779765577Humanname
329384123CV2434968single nucleotide variantNM_012258.4(HEY1):c.349G>T (p.Ala117Ser)not specified [RCV004250835]uncertain significance87976575479765754Humanname
329383015CV2441762single nucleotide variantNM_012258.4(HEY1):c.676G>T (p.Ala226Ser)not specified [RCV004261974]uncertain significance87976542779765427Humanname
329372985CV2451754single nucleotide variantNM_012258.4(HEY1):c.631A>G (p.Thr211Ala)not specified [RCV004276445]uncertain significance87976547279765472Humanname
405260272CV3190383single nucleotide variantNM_012258.4(HEY1):c.811T>C (p.Phe271Leu)HEY1-related disorder [RCV003894778]benign87976529279765292Humanname , trait , alternate_id
405293897CV3210478single nucleotide variantNM_012258.4(HEY1):c.854C>T (p.Thr285Met)HEY1-related disorder [RCV003932299]likely benign87976524979765249Humanname , trait , alternate_id
405776833CV3273937single nucleotide variantNM_012258.4(HEY1):c.578C>T (p.Pro193Leu)not specified [RCV004396912]uncertain significance87976552579765525Humanname
405776840CV3273938single nucleotide variantNM_012258.4(HEY1):c.715C>T (p.Pro239Ser)not specified [RCV004396913]uncertain significance87976538879765388Humanname
405776848CV3273939single nucleotide variantNM_012258.4(HEY1):c.736T>A (p.Ser246Thr)not specified [RCV004396914]uncertain significance87976536779765367Humanname
407522031CV3437206single nucleotide variantNM_012258.4(HEY1):c.755C>T (p.Pro252Leu)not specified [RCV004630519]uncertain significance87976534879765348Humanname
407522025CV3437208single nucleotide variantNM_012258.4(HEY1):c.766T>C (p.Ser256Pro)not specified [RCV004630521]uncertain significance87976533779765337Humanname
597761253CV3685666single nucleotide variantNM_012258.4(HEY1):c.550T>C (p.Phe184Leu)not specified [RCV004925866]uncertain significance87976555379765553Humanname
598177261CV3978687single nucleotide variantNM_012258.4(HEY1):c.440C>T (p.Ser147Phe)not specified [RCV005351801]uncertain significance87976566379765663Humanname
598247767CV3978689single nucleotide variantNM_012258.4(HEY1):c.891G>T (p.Trp297Cys)not specified [RCV005345349]uncertain significance87976521279765212Humanname
8633108CV88321single nucleotide variantNM_001040708.1(HEY1):c.561C>T (p.Val187=)Malignant melanoma [RCV000068413]not provided87976555479765554Humanname
8633107CV88320single nucleotide variantNM_001040708.1(HEY1):c.562T>A (p.Phe188Ile)Malignant melanoma [RCV000068412]not provided87976555379765553Humanname