| NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000000751] |
Chr6:29673328 [GRCh38]
Chr6:29641105 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.317_318del (p.Glu106fs) |
microsatellite |
Diabetes mellitus, transient neonatal, 1 [RCV000000752] |
Chr6:29675420..29675421 [GRCh38]
Chr6:29643197..29643198 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs) |
deletion |
Diabetes mellitus, transient neonatal, 1 [RCV000000753] |
Chr6:29672728 [GRCh38]
Chr6:29640505 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000000754] |
Chr6:29672739 [GRCh38]
Chr6:29640516 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.743G>A (p.Arg248His) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000000755] |
Chr6:29673368 [GRCh38]
Chr6:29641145 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.829C>A (p.His277Asn) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000000756] |
Chr6:29673282 [GRCh38]
Chr6:29641059 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.898_905del (p.Gly299_Thr300insTer) |
deletion |
Diabetes mellitus, transient neonatal, 1 [RCV000000757] |
Chr6:29673206..29673213 [GRCh38]
Chr6:29640983..29640990 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.2(ZFP57):c.-535A>C |
single nucleotide variant |
Lung cancer [RCV000096813] |
Chr6:29677538 [GRCh38]
Chr6:29645315 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] |
Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33 |
pathogenic |
| NM_001109809.2(ZFP57):c.852G>A (p.Gln284=) |
single nucleotide variant |
Malignant melanoma [RCV000067265] |
Chr6:29673259 [GRCh38]
Chr6:29641036 [GRCh37]
Chr6:29749015 [NCBI36]
Chr6:6p22.1 |
not provided |
| NM_001109809.2(ZFP57):c.1520G>A (p.Arg507Lys) |
single nucleotide variant |
Malignant melanoma [RCV000061379] |
Chr6:29672591 [GRCh38]
Chr6:29640368 [GRCh37]
Chr6:29748347 [NCBI36]
Chr6:6p22.1 |
not provided |
| NM_001109809.2(ZFP57):c.105G>A (p.Arg35=) |
single nucleotide variant |
Malignant melanoma [RCV000061380] |
Chr6:29676899 [GRCh38]
Chr6:29644676 [GRCh37]
Chr6:29752655 [NCBI36]
Chr6:6p22.1 |
not provided |
| NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001157865]|not provided [RCV000118887] |
Chr6:29672993 [GRCh38]
Chr6:29640770 [GRCh37]
Chr6:6p22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000270020]|not provided [RCV000118888] |
Chr6:29676891 [GRCh38]
Chr6:29644668 [GRCh37]
Chr6:6p22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000286888]|not provided [RCV001795186]|not specified [RCV000118886] |
Chr6:29673025 [GRCh38]
Chr6:29640802 [GRCh37]
Chr6:6p22.1 |
benign|likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.593A>G (p.Asn198Ser) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000397252]|Monogenic diabetes [RCV001174461]|ZFP57-related condition [RCV003905131]|not provided [RCV001594846]|not specified [RCV000118889] |
Chr6:29673518 [GRCh38]
Chr6:29641295 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001153674]|not provided [RCV001795187]|not specified [RCV000118890] |
Chr6:29673328 [GRCh38]
Chr6:29641105 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.1103A>T (p.Asp368Val) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000382332]|not provided [RCV001522543]|not specified [RCV000118891] |
Chr6:29673008 [GRCh38]
Chr6:29640785 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000271267]|Monogenic diabetes [RCV001174465]|Transitory neonatal diabetes mellitus [RCV002250565]|not provided [RCV001516221]|not specified [RCV000118892] |
Chr6:29673737 [GRCh38]
Chr6:29641514 [GRCh37]
Chr6:6p22.1 |
benign|likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.559C>T (p.Arg187Cys) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000298292]|ZFP57-related condition [RCV003975060]|not provided [RCV001598625]|not specified [RCV000118893] |
Chr6:29673552 [GRCh38]
Chr6:29641329 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 |
copy number gain |
See cases [RCV000138956] |
Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33 |
pathogenic |
| GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3 |
copy number gain |
See cases [RCV000141858] |
Chr6:28763187..29769828 [GRCh38]
Chr6:28730964..29737605 [GRCh37]
Chr6:28838943..29845584 [NCBI36]
Chr6:6p22.1 |
uncertain significance |
| GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3 |
pathogenic |
| NM_001109809.5(ZFP57):c.1545C>G (p.Gly515=) |
single nucleotide variant |
not specified [RCV000194573] |
Chr6:29672566 [GRCh38]
Chr6:29640343 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.495G>A (p.Val165=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000277055]|not provided [RCV003556361] |
Chr6:29673616 [GRCh38]
Chr6:29641393 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000344122]|Inborn genetic diseases [RCV002523562]|Monogenic diabetes [RCV001174428]|ZFP57-related condition [RCV003902383]|not provided [RCV002058578] |
Chr6:29672639 [GRCh38]
Chr6:29640416 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000368168]|Monogenic diabetes [RCV001174464]|ZFP57-related condition [RCV003897799]|not provided [RCV002058580] |
Chr6:29673636 [GRCh38]
Chr6:29641413 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.553A>G (p.Ser185Gly) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000369423] |
Chr6:29673558 [GRCh38]
Chr6:29641335 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.752G>A (p.Arg251His) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000299652]|Inborn genetic diseases [RCV002524473] |
Chr6:29673359 [GRCh38]
Chr6:29641136 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000322735]|Monogenic diabetes [RCV001174467]|not provided [RCV002058581] |
Chr6:29676892 [GRCh38]
Chr6:29644669 [GRCh37]
Chr6:6p22.1 |
benign|likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.749G>A (p.Arg250His) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000338195]|Inborn genetic diseases [RCV003352847] |
Chr6:29673362 [GRCh38]
Chr6:29641139 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.277C>G (p.Leu93Val) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000380716]|not provided [RCV001850887] |
Chr6:29675461 [GRCh38]
Chr6:29643238 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.285C>T (p.Thr95=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000328426]|ZFP57-related condition [RCV003932470] |
Chr6:29675453 [GRCh38]
Chr6:29643230 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.4(ZFP57):c.*55T>C |
single nucleotide variant |
Transient Neonatal Diabetes, Recessive [RCV000291420] |
Chr6:29672445 [GRCh38]
Chr6:29640222 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000311047]|Monogenic diabetes [RCV001174463]|Transitory neonatal diabetes mellitus [RCV003221301]|not provided [RCV002058579] |
Chr6:29673620 [GRCh38]
Chr6:29641397 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000339576] |
Chr6:29673254 [GRCh38]
Chr6:29641031 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.798G>A (p.Lys266=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000397242] |
Chr6:29673313 [GRCh38]
Chr6:29641090 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.826C>T (p.Arg276Cys) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001152390]|not provided [RCV002557289] |
Chr6:29673285 [GRCh38]
Chr6:29641062 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| GRCh37/hg19 6p22.1(chr6:29644909-29760628)x3 |
copy number gain |
See cases [RCV000446284] |
Chr6:29644909..29760628 [GRCh37]
Chr6:6p22.1 |
likely benign |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_001109809.5(ZFP57):c.56G>A (p.Gly19Asp) |
single nucleotide variant |
not provided [RCV002524341]|not specified [RCV000499414] |
Chr6:29676948 [GRCh38]
Chr6:29644725 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV000625683] |
Chr6:29673387 [GRCh38]
Chr6:29641164 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 |
copy number gain |
not provided [RCV000745592] |
Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32 |
uncertain significance |
| NM_001109809.5(ZFP57):c.251-23T>G |
single nucleotide variant |
not provided [RCV001647889] |
Chr6:29675510 [GRCh38]
Chr6:29643287 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.124-204G>A |
single nucleotide variant |
not provided [RCV001643758] |
Chr6:29676263 [GRCh38]
Chr6:29644040 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001152387]|Monogenic diabetes [RCV001174459]|ZFP57-related condition [RCV003906270]|not provided [RCV002070848] |
Chr6:29673078 [GRCh38]
Chr6:29640855 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.1230G>A (p.Pro410=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001157864] |
Chr6:29672881 [GRCh38]
Chr6:29640658 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1181G>A (p.Ser394Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003274650] |
Chr6:29672930 [GRCh38]
Chr6:29640707 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.353-78C>T |
single nucleotide variant |
not provided [RCV001621450] |
Chr6:29673836 [GRCh38]
Chr6:29641613 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.123+25G>A |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV002243427]|not provided [RCV001693955] |
Chr6:29676856 [GRCh38]
Chr6:29644633 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_206809.4(MOG):c.*1108TAAA[10] |
microsatellite |
not provided [RCV001650105] |
Chr6:29672290..29672293 [GRCh38]
Chr6:29640067..29640070 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_206809.4(MOG):c.*1059T>C |
single nucleotide variant |
not provided [RCV001714922] |
Chr6:29672244 [GRCh38]
Chr6:29640021 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.250+220T>C |
single nucleotide variant |
not provided [RCV001656960] |
Chr6:29675713 [GRCh38]
Chr6:29643490 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001153676]|Monogenic diabetes [RCV001174462]|ZFP57-related condition [RCV003906273]|not provided [RCV002070874] |
Chr6:29673579 [GRCh38]
Chr6:29641356 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.937A>G (p.Arg313Gly) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001152388]|Monogenic diabetes [RCV001174460]|not provided [RCV001511707] |
Chr6:29673174 [GRCh38]
Chr6:29640951 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.-258G>T |
single nucleotide variant |
not provided [RCV001657182] |
Chr6:29677261 [GRCh38]
Chr6:29645038 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.-338C>G |
single nucleotide variant |
not provided [RCV001536932] |
Chr6:29677341 [GRCh38]
Chr6:29645118 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.352+177_352+184dup |
microsatellite |
not provided [RCV001689070] |
Chr6:29675201..29675202 [GRCh38]
Chr6:29642978..29642979 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.353-102C>T |
single nucleotide variant |
not provided [RCV001621735] |
Chr6:29673860 [GRCh38]
Chr6:29641637 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.352+212dup |
indel |
not provided [RCV001614563] |
Chr6:29675151..29675152 [GRCh38]
Chr6:29642928..29642929 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.352+232_352+234del |
microsatellite |
not provided [RCV001598245] |
Chr6:29675152..29675154 [GRCh38]
Chr6:29642929..29642931 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.288G>C (p.Lys96Asn) |
single nucleotide variant |
Monogenic diabetes [RCV001174466] |
Chr6:29675450 [GRCh38]
Chr6:29643227 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.843C>T (p.His281=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001152389]|not provided [RCV002070849] |
Chr6:29673268 [GRCh38]
Chr6:29641045 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.353-152T>C |
single nucleotide variant |
not provided [RCV001684985] |
Chr6:29673910 [GRCh38]
Chr6:29641687 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.352+213T>C |
single nucleotide variant |
not provided [RCV001645893] |
Chr6:29675173 [GRCh38]
Chr6:29642950 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.-190A>G |
single nucleotide variant |
not provided [RCV001690911] |
Chr6:29677193 [GRCh38]
Chr6:29644970 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.732T>C (p.Ser244=) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV001153675]|not provided [RCV001518659]|not specified [RCV001819861] |
Chr6:29673379 [GRCh38]
Chr6:29641156 [GRCh37]
Chr6:6p22.1 |
benign|likely benign |
| NM_001109809.5(ZFP57):c.458del (p.Leu153fs) |
deletion |
not provided [RCV001817932] |
Chr6:29673653 [GRCh38]
Chr6:29641430 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.1604A>G (p.His535Arg) |
single nucleotide variant |
not provided [RCV001357271] |
Chr6:29672507 [GRCh38]
Chr6:29640284 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.352+234del |
deletion |
not provided [RCV001645380] |
Chr6:29675152 [GRCh38]
Chr6:29642929 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.123+156G>A |
single nucleotide variant |
not provided [RCV001684430] |
Chr6:29676725 [GRCh38]
Chr6:29644502 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.124-41T>C |
single nucleotide variant |
not provided [RCV001654659] |
Chr6:29676100 [GRCh38]
Chr6:29643877 [GRCh37]
Chr6:6p22.1 |
benign |
| NM_001109809.5(ZFP57):c.711dup (p.Lys238fs) |
duplication |
Diabetes mellitus, transient neonatal, 1 [RCV001784045] |
Chr6:29673399..29673400 [GRCh38]
Chr6:29641176..29641177 [GRCh37]
Chr6:6p22.1 |
likely pathogenic |
| NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter) |
single nucleotide variant |
ZFP57-related condition [RCV003956715] |
Chr6:29673663 [GRCh38]
Chr6:29641440 [GRCh37]
Chr6:6p22.1 |
likely pathogenic |
| NM_001109809.5(ZFP57):c.133del (p.Thr45fs) |
deletion |
Diabetes mellitus, transient neonatal, 1 [RCV001785155] |
Chr6:29676050 [GRCh38]
Chr6:29643827 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NC_000006.11:g.28005012_31683185del |
deletion |
Megacolon [RCV001290055] |
Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33 |
likely pathogenic |
| NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs) |
microsatellite |
not provided [RCV001817920] |
Chr6:29675985..29675986 [GRCh38]
Chr6:29643762..29643763 [GRCh37]
Chr6:6p22.1 |
pathogenic |
| NM_001109809.5(ZFP57):c.805C>T (p.Arg269Trp) |
single nucleotide variant |
not specified [RCV001819634] |
Chr6:29673306 [GRCh38]
Chr6:29641083 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln) |
single nucleotide variant |
not provided [RCV001817908] |
Chr6:29673341 [GRCh38]
Chr6:29641118 [GRCh37]
Chr6:6p22.1 |
likely pathogenic |
| NM_001109809.5(ZFP57):c.1126G>C (p.Val376Leu) |
single nucleotide variant |
not provided [RCV002041363] |
Chr6:29672985 [GRCh38]
Chr6:29640762 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.869A>G (p.Asn290Ser) |
single nucleotide variant |
not provided [RCV001900951] |
Chr6:29673242 [GRCh38]
Chr6:29641019 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.603G>A (p.Leu201=) |
single nucleotide variant |
not provided [RCV001942582] |
Chr6:29673508 [GRCh38]
Chr6:29641285 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.352+3A>G |
single nucleotide variant |
ZFP57-related condition [RCV003978423]|not provided [RCV001933713] |
Chr6:29675383 [GRCh38]
Chr6:29643160 [GRCh37]
Chr6:6p22.1 |
likely benign|uncertain significance |
| NM_001109809.5(ZFP57):c.666A>T (p.Arg222Ser) |
single nucleotide variant |
not provided [RCV001997052] |
Chr6:29673445 [GRCh38]
Chr6:29641222 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.22A>G (p.Ile8Val) |
single nucleotide variant |
not provided [RCV001925224] |
Chr6:29676982 [GRCh38]
Chr6:29644759 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.820C>T (p.Leu274Phe) |
single nucleotide variant |
not provided [RCV002014510] |
Chr6:29673291 [GRCh38]
Chr6:29641068 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.353-13T>C |
single nucleotide variant |
not provided [RCV002196889] |
Chr6:29673771 [GRCh38]
Chr6:29641548 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.352+15G>T |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV003120123] |
Chr6:29675371 [GRCh38]
Chr6:29643148 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.722dup (p.Cys241fs) |
duplication |
not provided [RCV003151693] |
Chr6:29673388..29673389 [GRCh38]
Chr6:29641165..29641166 [GRCh37]
Chr6:6p22.1 |
likely pathogenic |
| GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3 |
copy number gain |
not provided [RCV002472477] |
Chr6:29162783..30236331 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1253G>T (p.Ser418Ile) |
single nucleotide variant |
not provided [RCV002731418] |
Chr6:29672858 [GRCh38]
Chr6:29640635 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1521G>T (p.Arg507Ser) |
single nucleotide variant |
not provided [RCV003018048] |
Chr6:29672590 [GRCh38]
Chr6:29640367 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.460T>C (p.Ser154Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002886720] |
Chr6:29673651 [GRCh38]
Chr6:29641428 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.943A>G (p.Ile315Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002844253] |
Chr6:29673168 [GRCh38]
Chr6:29640945 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1339C>A (p.Leu447Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002798458] |
Chr6:29672772 [GRCh38]
Chr6:29640549 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.407C>T (p.Thr136Ile) |
single nucleotide variant |
not provided [RCV003056724] |
Chr6:29673704 [GRCh38]
Chr6:29641481 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.469G>C (p.Ala157Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002874336] |
Chr6:29673642 [GRCh38]
Chr6:29641419 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.337A>G (p.Thr113Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002853870] |
Chr6:29675401 [GRCh38]
Chr6:29643178 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1529C>A (p.Thr510Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002921096] |
Chr6:29672582 [GRCh38]
Chr6:29640359 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1550G>C (p.Arg517Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002813764] |
Chr6:29672561 [GRCh38]
Chr6:29640338 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.925G>A (p.Ala309Thr) |
single nucleotide variant |
not provided [RCV003089641] |
Chr6:29673186 [GRCh38]
Chr6:29640963 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.605C>G (p.Thr202Ser) |
single nucleotide variant |
not provided [RCV002716509] |
Chr6:29673506 [GRCh38]
Chr6:29641283 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1283T>C (p.Val428Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002959337] |
Chr6:29672828 [GRCh38]
Chr6:29640605 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.1112C>G (p.Ser371Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002649018] |
Chr6:29672999 [GRCh38]
Chr6:29640776 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.520C>T (p.Pro174Ser) |
single nucleotide variant |
not provided [RCV003045150] |
Chr6:29673591 [GRCh38]
Chr6:29641368 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.668G>A (p.Arg223His) |
single nucleotide variant |
not provided [RCV003091714] |
Chr6:29673443 [GRCh38]
Chr6:29641220 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.144T>C (p.Asp48=) |
single nucleotide variant |
not provided [RCV003044151] |
Chr6:29676039 [GRCh38]
Chr6:29643816 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.1585G>A (p.Ala529Thr) |
single nucleotide variant |
ZFP57-related condition [RCV003973721]|not provided [RCV002634173] |
Chr6:29672526 [GRCh38]
Chr6:29640303 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.289C>A (p.Leu97Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003255592] |
Chr6:29675449 [GRCh38]
Chr6:29643226 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.539G>A (p.Cys180Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003379174] |
Chr6:29673572 [GRCh38]
Chr6:29641349 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.785C>G (p.Ser262Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003385278] |
Chr6:29673326 [GRCh38]
Chr6:29641103 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.400G>A (p.Glu134Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003386448] |
Chr6:29673711 [GRCh38]
Chr6:29641488 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.758A>T (p.His253Leu) |
single nucleotide variant |
not provided [RCV003431701] |
Chr6:29673353 [GRCh38]
Chr6:29641130 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys) |
single nucleotide variant |
Diabetes mellitus, transient neonatal, 1 [RCV003448640] |
Chr6:29673360 [GRCh38]
Chr6:29641137 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.819G>A (p.Glu273=) |
single nucleotide variant |
not provided [RCV003695821] |
Chr6:29673292 [GRCh38]
Chr6:29641069 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.222G>A (p.Ser74=) |
single nucleotide variant |
not provided [RCV003545807] |
Chr6:29675961 [GRCh38]
Chr6:29643738 [GRCh37]
Chr6:6p22.1 |
likely benign |
| NM_001109809.5(ZFP57):c.637C>T (p.Arg213Trp) |
single nucleotide variant |
not provided [RCV003725932] |
Chr6:29673474 [GRCh38]
Chr6:29641251 [GRCh37]
Chr6:6p22.1 |
uncertain significance |
| NM_001109809.5(ZFP57):c.570C>A (p.Leu190=) |
single nucleotide variant |
not provided [RCV003866505] |
Chr6:29673541 [GRCh38]
Chr6:29641318 [GRCh37]
Chr6:6p22.1 |
likely benign |
