NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000000068] |
Chr22:40924482 [GRCh38] Chr22:41320486 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) |
deletion |
Nephronophthisis-like nephropathy 1 [RCV000000069] |
Chr22:40909195..40909198 [GRCh38] Chr22:41305199..41305202 [GRCh37] Chr22:22q13.2 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 |
copy number gain |
See cases [RCV000051684] |
Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001310283] |
Chr22:40914309 [GRCh38] Chr22:41310313 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.720dup (p.Gln241fs) |
duplication |
Nephronophthisis-like nephropathy 1 [RCV001554332] |
Chr22:40886442..40886443 [GRCh38] Chr22:41282446..41282447 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.1243C>T (p.Arg415Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001333126] |
Chr22:40924368 [GRCh38] Chr22:41320372 [GRCh37] Chr22:22q13.2 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 |
copy number gain |
See cases [RCV000134730] |
Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 |
copy number gain |
See cases [RCV000134513] |
Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3 |
copy number gain |
See cases [RCV000134514] |
Chr22:40769910..41360090 [GRCh38] Chr22:41165914..41756094 [GRCh37] Chr22:39495860..40086040 [NCBI36] Chr22:22q13.2 |
uncertain significance |
GRCh38/hg38 22q13.2(chr22:40732506-40892856)x3 |
copy number gain |
See cases [RCV000135853] |
Chr22:40732506..40892856 [GRCh38] Chr22:41128510..41288860 [GRCh37] Chr22:39458456..39618806 [NCBI36] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002517297]|Nephronophthisis-like nephropathy 1 [RCV000195763] |
Chr22:40909157 [GRCh38] Chr22:41305161 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_41264983)_(41729217_?)dup |
duplication |
Nephronophthisis-like nephropathy 1 [RCV000556646] |
Chr22:40868979..41333213 [GRCh38] Chr22:41264983..41729217 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3 |
copy number gain |
See cases [RCV000050897] |
Chr22:40860894..41306006 [GRCh38] Chr22:41256898..41702010 [GRCh37] Chr22:39586844..40031956 [NCBI36] Chr22:22q13.2 |
uncertain significance |
GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1 |
copy number loss |
See cases [RCV000051369] |
Chr22:40832364..41076954 [GRCh38] Chr22:41228368..41472958 [GRCh37] Chr22:39558314..39802904 [NCBI36] Chr22:22q13.2 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 |
copy number gain |
See cases [RCV000051682] |
Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 |
copy number gain |
See cases [RCV000051685] |
Chr22:37721797..40860953 [GRCh38] Chr22:38117804..41256957 [GRCh37] Chr22:36447750..39586903 [NCBI36] Chr22:22q13.1-13.2 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 |
copy number gain |
See cases [RCV000133646] |
Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3 |
copy number gain |
See cases [RCV000137666] |
Chr22:40431454..40934348 [GRCh38] Chr22:40827458..41330352 [GRCh37] Chr22:39157404..39660298 [NCBI36] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.590-8A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001083063]|not provided [RCV000154150] |
Chr22:40886305 [GRCh38] Chr22:41282309 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000549700]|not provided [RCV000180677] |
Chr22:40924369 [GRCh38] Chr22:41320373 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 |
copy number gain |
See cases [RCV000240459] |
Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.*5915del |
deletion |
Nephronophthisis-Like Nephropathy [RCV000300925] |
Chr22:40932338 [GRCh38] Chr22:41328342 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2611G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000292714] |
Chr22:40929046 [GRCh38] Chr22:41325050 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.1122C>T (p.Leu374=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001482248] |
Chr22:40922399 [GRCh38] Chr22:41318403 [GRCh37] Chr22:22q13.2 |
likely benign |
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 |
copy number gain |
See cases [RCV000240469] |
Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.*2881C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000269992] |
Chr22:40929316 [GRCh38] Chr22:41325320 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4561G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000260551]|not provided [RCV004713799] |
Chr22:40930996 [GRCh38] Chr22:41327000 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*3137C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000263478]|not provided [RCV004713794] |
Chr22:40929572 [GRCh38] Chr22:41325576 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.3(XPNPEP3):c.-44C>T |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000277412]|not provided [RCV004694678] |
Chr22:40857138 [GRCh38] Chr22:41253142 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1452A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000392784] |
Chr22:40927887 [GRCh38] Chr22:41323891 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*419A>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000357442] |
Chr22:40926854 [GRCh38] Chr22:41322858 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000863350] |
Chr22:40857244 [GRCh38] Chr22:41253248 [GRCh37] Chr22:22q13.2 |
likely benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*2978G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000276580]|not provided [RCV004713793] |
Chr22:40929413 [GRCh38] Chr22:41325417 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*4216C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000368023] |
Chr22:40930651 [GRCh38] Chr22:41326655 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.-23C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000368395] |
Chr22:40857159 [GRCh38] Chr22:41253163 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*3308T>C |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000278641] |
Chr22:40929743 [GRCh38] Chr22:41325747 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000279640]|not provided [RCV000863147] |
Chr22:40886441 [GRCh38] Chr22:41282445 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.*877A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000283854] |
Chr22:40927312 [GRCh38] Chr22:41323316 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*4990A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000376380] |
Chr22:40931425 [GRCh38] Chr22:41327429 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1161C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000383870] |
Chr22:40927596 [GRCh38] Chr22:41323600 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2536C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000387015] |
Chr22:40928971 [GRCh38] Chr22:41324975 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3955A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000390014] |
Chr22:40930390 [GRCh38] Chr22:41326394 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*4227C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000390918] |
Chr22:40930662 [GRCh38] Chr22:41326666 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1696G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000266630] |
Chr22:40928131 [GRCh38] Chr22:41324135 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2929dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000306507] |
Chr22:40929357..40929358 [GRCh38] Chr22:41325361..41325362 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2627C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000338305] |
Chr22:40929062 [GRCh38] Chr22:41325066 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2860G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000309785] |
Chr22:40929295 [GRCh38] Chr22:41325299 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3298C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000373229] |
Chr22:40929733 [GRCh38] Chr22:41325737 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4260T>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000300375] |
Chr22:40930695 [GRCh38] Chr22:41326699 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1427G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000300580] |
Chr22:40927862 [GRCh38] Chr22:41323866 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*114G>A |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000311893] |
Chr22:40926549 [GRCh38] Chr22:41322553 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5096T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000290539] |
Chr22:40931531 [GRCh38] Chr22:41327535 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) |
copy number gain |
See cases [RCV000510873] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NC_000022.11:g.40856984dup |
duplication |
not provided [RCV001666126] |
Chr22:40856966..40856967 [GRCh38] Chr22:41252970..41252971 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*6179G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001148093] |
Chr22:40932614 [GRCh38] Chr22:41328618 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1357+188C>T |
single nucleotide variant |
not provided [RCV001665761] |
Chr22:40924670 [GRCh38] Chr22:41320674 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*1964G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146989] |
Chr22:40928399 [GRCh38] Chr22:41324403 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3756A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147104] |
Chr22:40930191 [GRCh38] Chr22:41326195 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001429528] |
Chr22:40881954 [GRCh38] Chr22:41277958 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002536218]|Nephronophthisis-like nephropathy 1 [RCV000860450]|XPNPEP3-related disorder [RCV003908143] |
Chr22:40907611 [GRCh38] Chr22:41303615 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004030055]|Nephronophthisis-like nephropathy 1 [RCV001146791] |
Chr22:40881976 [GRCh38] Chr22:41277980 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.*5547C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147202] |
Chr22:40931982 [GRCh38] Chr22:41327986 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.*5641T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147203] |
Chr22:40932076 [GRCh38] Chr22:41328080 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*995T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147795] |
Chr22:40927430 [GRCh38] Chr22:41323434 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1439C>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149340] |
Chr22:40927874 [GRCh38] Chr22:41323878 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2406C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146993] |
Chr22:40928841 [GRCh38] Chr22:41324845 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3698G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147102] |
Chr22:40930133 [GRCh38] Chr22:41326137 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*6055A>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001148091] |
Chr22:40932490 [GRCh38] Chr22:41328494 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*4645C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149538] |
Chr22:40931080 [GRCh38] Chr22:41327084 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.969+6T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147686] |
Chr22:40909241 [GRCh38] Chr22:41305245 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1162G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147797] |
Chr22:40927597 [GRCh38] Chr22:41323601 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3973C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147983] |
Chr22:40930408 [GRCh38] Chr22:41326412 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4198G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147986] |
Chr22:40930633 [GRCh38] Chr22:41326637 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.-28C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146788] |
Chr22:40857154 [GRCh38] Chr22:41253158 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1376C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149338] |
Chr22:40927811 [GRCh38] Chr22:41323815 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.590-9C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000861089]|not provided [RCV004714131] |
Chr22:40886304 [GRCh38] Chr22:41282308 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.1296C>T (p.Asp432=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001478213] |
Chr22:40924421 [GRCh38] Chr22:41320425 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.*4158A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147984] |
Chr22:40930593 [GRCh38] Chr22:41326597 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4166A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147985] |
Chr22:40930601 [GRCh38] Chr22:41326605 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001144936] |
Chr22:40926437 [GRCh38] Chr22:41322441 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3706T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147103] |
Chr22:40930141 [GRCh38] Chr22:41326145 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2649A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147887] |
Chr22:40929084 [GRCh38] Chr22:41325088 [GRCh37] Chr22:22q13.2 |
likely benign |
NC_000022.10:g.(?_41074407)_(41489122_?)del |
deletion |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV003107398] |
Chr22:41074407..41489122 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.1218G>A (p.Lys406=) |
single nucleotide variant |
not provided [RCV000913744] |
Chr22:40922495 [GRCh38] Chr22:41318499 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1237-220G>A |
single nucleotide variant |
not provided [RCV001635571] |
Chr22:40924142 [GRCh38] Chr22:41320146 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*1470A>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145035]|not provided [RCV004694899] |
Chr22:40927905 [GRCh38] Chr22:41323909 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3112T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145137] |
Chr22:40929547 [GRCh38] Chr22:41325551 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3194G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145138] |
Chr22:40929629 [GRCh38] Chr22:41325633 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.112G>A (p.Glu38Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146789] |
Chr22:40869046 [GRCh38] Chr22:41265050 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) |
deletion |
Nephronophthisis-like nephropathy 1 [RCV001310284] |
Chr22:40886368 [GRCh38] Chr22:41282372 [GRCh37] Chr22:22q13.2 |
pathogenic|likely pathogenic |
NM_022098.4(XPNPEP3):c.1173G>C (p.Leu391=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001493390] |
Chr22:40922450 [GRCh38] Chr22:41318454 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1236+203AT[2] |
microsatellite |
not provided [RCV001716566] |
Chr22:40922716..40922717 [GRCh38] Chr22:41318720..41318721 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001945492] |
Chr22:40869019 [GRCh38] Chr22:41265023 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.47A>T (p.Asn16Ile) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002016223] |
Chr22:40857228 [GRCh38] Chr22:41253232 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001978729] |
Chr22:40926422 [GRCh38] Chr22:41322426 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_41277754)_(43089957_?)dup |
duplication |
Immunodeficiency, common variable, 4 [RCV001979926] |
Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002034233] |
Chr22:40881860 [GRCh38] Chr22:41277864 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1055+2T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002033772] |
Chr22:40914326 [GRCh38] Chr22:41310330 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.490G>A (p.Asp164Asn) |
single nucleotide variant |
not provided [RCV002223541] |
Chr22:40882078 [GRCh38] Chr22:41278082 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.933C>T (p.Asn311=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002109679] |
Chr22:40909199 [GRCh38] Chr22:41305203 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.970-1G>A |
single nucleotide variant |
not provided [RCV002223588] |
Chr22:40914238 [GRCh38] Chr22:41310242 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.612T>C (p.Tyr204=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002093354] |
Chr22:40886335 [GRCh38] Chr22:41282339 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003110621] |
Chr22:40882051 [GRCh38] Chr22:41278055 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_41277754)_(41278201_?)del |
deletion |
Nephronophthisis-like nephropathy 1 [RCV003111449] |
Chr22:41277754..41278201 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_41282297)_(41282539_?)del |
deletion |
Nephronophthisis-like nephropathy 1 [RCV003111450] |
Chr22:41282297..41282539 [GRCh37] Chr22:22q13.2 |
pathogenic |
NC_000022.10:g.(?_35776672)_(42486826_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003119093] |
Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.145C>T (p.Pro49Ser) |
single nucleotide variant |
not provided [RCV004790887] |
Chr22:40869079 [GRCh38] Chr22:41265083 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.64+4586dup |
duplication |
Kidney disorder [RCV002294619] |
Chr22:40861830..40861831 [GRCh38] Chr22:41257834..41257835 [GRCh37] Chr22:22q13.2 |
benign |
GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1 |
copy number loss |
not provided [RCV002473952] |
Chr22:40131240..41556564 [GRCh37] Chr22:22q13.1-13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.792+19A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002681709] |
Chr22:40886534 [GRCh38] Chr22:41282538 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002775053] |
Chr22:40882028 [GRCh38] Chr22:41278032 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.297A>C (p.Glu99Asp) |
single nucleotide variant |
not specified [RCV004103066] |
Chr22:40861698 [GRCh38] Chr22:41257702 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.542T>C (p.Met181Thr) |
single nucleotide variant |
not specified [RCV004161583] |
Chr22:40861453 [GRCh38] Chr22:41257457 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.123A>T (p.Glu41Asp) |
single nucleotide variant |
not specified [RCV004228842] |
Chr22:40861872 [GRCh38] Chr22:41257876 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1240G>A (p.Ala414Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002816702] |
Chr22:40924365 [GRCh38] Chr22:41320369 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.5T>A (p.Val2Glu) |
single nucleotide variant |
not specified [RCV004237473] |
Chr22:40861990 [GRCh38] Chr22:41257994 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2011A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000269286] |
Chr22:40928446 [GRCh38] Chr22:41324450 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4362C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000355257]|not provided [RCV004713798] |
Chr22:40930797 [GRCh38] Chr22:41326801 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*4588A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000361198] |
Chr22:40931023 [GRCh38] Chr22:41327027 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1607del |
deletion |
Nephronophthisis-Like Nephropathy [RCV000361286] |
Chr22:40928042 [GRCh38] Chr22:41324046 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His) |
single nucleotide variant |
Inborn genetic diseases [RCV003243098]|Nephronophthisis-like nephropathy 1 [RCV000315316] |
Chr22:40924438 [GRCh38] Chr22:41320442 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4586G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000315756]|not provided [RCV004713800] |
Chr22:40931021 [GRCh38] Chr22:41327025 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.970-9T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000527983] |
Chr22:40914230 [GRCh38] Chr22:41310234 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*2881C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000364647]|not provided [RCV004713791] |
Chr22:40929316 [GRCh38] Chr22:41325320 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*531T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000317387] |
Chr22:40926966 [GRCh38] Chr22:41322970 [GRCh37] Chr22:22q13.2 |
likely benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*2958G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000370465]|not provided [RCV004713792] |
Chr22:40929393 [GRCh38] Chr22:41325397 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*1798C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000272889] |
Chr22:40928233 [GRCh38] Chr22:41324237 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4702G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000321691]|not provided [RCV004713801] |
Chr22:40931137 [GRCh38] Chr22:41327141 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*2629G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000374085]|not provided [RCV004713790] |
Chr22:40929064 [GRCh38] Chr22:41325068 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001081337]|not provided [RCV000677014] |
Chr22:40869045 [GRCh38] Chr22:41265049 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*700G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000323706] |
Chr22:40927135 [GRCh38] Chr22:41323139 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3351C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000324395]|not provided [RCV004713795] |
Chr22:40929786 [GRCh38] Chr22:41325790 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.1236+9C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000401082] |
Chr22:40922522 [GRCh38] Chr22:41318526 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1085A>C (p.Glu362Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000401609] |
Chr22:40922362 [GRCh38] Chr22:41318366 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3411T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000284973] |
Chr22:40929846 [GRCh38] Chr22:41325850 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000285153] |
Chr22:40914318 [GRCh38] Chr22:41310322 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5327A>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000329131] |
Chr22:40931762 [GRCh38] Chr22:41327766 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*809C>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000378242] |
Chr22:40927244 [GRCh38] Chr22:41323248 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*3366C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000379474]|not provided [RCV004713796] |
Chr22:40929801 [GRCh38] Chr22:41325805 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.970-8T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000379722] |
Chr22:40914231 [GRCh38] Chr22:41310235 [GRCh37] Chr22:22q13.2 |
benign|likely benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*3003G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000331686] |
Chr22:40929438 [GRCh38] Chr22:41325442 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.3(XPNPEP3):c.-41C>A |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000332353] |
Chr22:40857141 [GRCh38] Chr22:41253145 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3690G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000290693]|not provided [RCV004713797] |
Chr22:40930125 [GRCh38] Chr22:41326129 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*1241_*1242insA |
insertion |
Nephronophthisis-Like Nephropathy [RCV000388970] |
Chr22:40927676..40927677 [GRCh38] Chr22:41323680..41323681 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1876A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000382457] |
Chr22:40928311 [GRCh38] Chr22:41324315 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*6178C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000390455] |
Chr22:40932613 [GRCh38] Chr22:41328617 [GRCh37] Chr22:22q13.2 |
likely benign|uncertain significance |
NM_022098.4(XPNPEP3):c.1055+15G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000340105]|not provided [RCV004713788] |
Chr22:40914339 [GRCh38] Chr22:41310343 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*467C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000262222]|not provided [RCV004713789] |
Chr22:40926902 [GRCh38] Chr22:41322906 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.*5643C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000398189] |
Chr22:40932078 [GRCh38] Chr22:41328082 [GRCh37] Chr22:22q13.2 |
benign|uncertain significance |
NM_022098.4(XPNPEP3):c.*1265C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000399270] |
Chr22:40927700 [GRCh38] Chr22:41323704 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000346042] |
Chr22:40922465 [GRCh38] Chr22:41318469 [GRCh37] Chr22:22q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.*2762T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000304001] |
Chr22:40929197 [GRCh38] Chr22:41325201 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.*5742A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000349863] |
Chr22:40932177 [GRCh38] Chr22:41328181 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*637C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000268584] |
Chr22:40927072 [GRCh38] Chr22:41323076 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2630C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000279581] |
Chr22:40929065 [GRCh38] Chr22:41325069 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4614A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000266550] |
Chr22:40931049 [GRCh38] Chr22:41327053 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*6201A>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000304379]|not provided [RCV004713802] |
Chr22:40932636 [GRCh38] Chr22:41328640 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.1129C>T (p.Pro377Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003268300] |
Chr22:40922406 [GRCh38] Chr22:41318410 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1140C>T (p.Ser380=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000291229] |
Chr22:40922417 [GRCh38] Chr22:41318421 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1050TAAA[2] |
microsatellite |
Nephronophthisis-Like Nephropathy [RCV000329362] |
Chr22:40927482..40927485 [GRCh38] Chr22:41323486..41323489 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1222dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000344588] |
Chr22:40927656..40927657 [GRCh38] Chr22:41323660..41323661 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3840G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000345681] |
Chr22:40930275 [GRCh38] Chr22:41326279 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5915dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000399349] |
Chr22:40932337..40932338 [GRCh38] Chr22:41328341..41328342 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2779C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000399803] |
Chr22:40929214 [GRCh38] Chr22:41325218 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1763del |
deletion |
Nephronophthisis-Like Nephropathy [RCV000303084] |
Chr22:40928198 [GRCh38] Chr22:41324202 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4152dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000315459] |
Chr22:40930575..40930576 [GRCh38] Chr22:41326579..41326580 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5410G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000381386] |
Chr22:40931845 [GRCh38] Chr22:41327849 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3673del |
deletion |
Nephronophthisis-Like Nephropathy [RCV000400002] |
Chr22:40930096 [GRCh38] Chr22:41326100 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5649C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000292627] |
Chr22:40932084 [GRCh38] Chr22:41328088 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2774dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000401750]|not provided [RCV004694679] |
Chr22:40929192..40929193 [GRCh38] Chr22:41325196..41325197 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2042G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000332438] |
Chr22:40928477 [GRCh38] Chr22:41324481 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3238A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000318620] |
Chr22:40929673 [GRCh38] Chr22:41325677 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1246G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000294566] |
Chr22:40927681 [GRCh38] Chr22:41323685 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2747CTTTT[2] |
microsatellite |
Nephronophthisis-Like Nephropathy [RCV000334654] |
Chr22:40929178..40929182 [GRCh38] Chr22:41325182..41325186 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1249T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000349447] |
Chr22:40927684 [GRCh38] Chr22:41323688 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.-87C>T |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000367240]|Nephronophthisis-like nephropathy 1 [RCV005027444] |
Chr22:40857095 [GRCh38] Chr22:41253099 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3046G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000367708] |
Chr22:40929481 [GRCh38] Chr22:41325485 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5631C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000351170] |
Chr22:40932066 [GRCh38] Chr22:41328070 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1503G>A (p.Gln501=) |
single nucleotide variant |
Nephronophthisis-Like Nephropathy [RCV000369972] |
Chr22:40926414 [GRCh38] Chr22:41322418 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1458G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000297081] |
Chr22:40927893 [GRCh38] Chr22:41323897 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1449A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000336873] |
Chr22:40927884 [GRCh38] Chr22:41323888 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*6164G>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000353214] |
Chr22:40932599 [GRCh38] Chr22:41328603 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*635C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000353472] |
Chr22:40927070 [GRCh38] Chr22:41323074 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*85G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000390871] |
Chr22:40926520 [GRCh38] Chr22:41322524 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3673dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000340076] |
Chr22:40930095..40930096 [GRCh38] Chr22:41326099..41326100 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2768T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000340173] |
Chr22:40929203 [GRCh38] Chr22:41325207 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5508T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000289314] |
Chr22:40931943 [GRCh38] Chr22:41327947 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1765dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000357907] |
Chr22:40928198..40928199 [GRCh38] Chr22:41324202..41324203 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1205C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000289569] |
Chr22:40927640 [GRCh38] Chr22:41323644 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1803dup |
duplication |
Nephronophthisis-Like Nephropathy [RCV000327912] |
Chr22:40928237..40928238 [GRCh38] Chr22:41324241..41324242 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.62C>A (p.Ser21Ter) |
single nucleotide variant |
not provided [RCV000722810] |
Chr22:40857243 [GRCh38] Chr22:41253247 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 |
copy number gain |
See cases [RCV000446956] |
Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2(chr22:41223048-41278147)x3 |
copy number gain |
See cases [RCV000447587] |
Chr22:41223048..41278147 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 |
copy number gain |
See cases [RCV000448955] |
Chr22:40233644..41655673 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.963C>T (p.Leu321=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000471916] |
Chr22:40909229 [GRCh38] Chr22:41305233 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_145174.2(DNAJB7):c.246T>G (p.Asp82Glu) |
single nucleotide variant |
not specified [RCV004302440] |
Chr22:40861749 [GRCh38] Chr22:41257753 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001082671]|not provided [RCV000677015] |
Chr22:40926388 [GRCh38] Chr22:41322392 [GRCh37] Chr22:22q13.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002533692]|Nephronophthisis-like nephropathy 1 [RCV000703726] |
Chr22:40926427 [GRCh38] Chr22:41322431 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 |
copy number gain |
not provided [RCV000741689] |
Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 |
copy number gain |
not provided [RCV000741691] |
Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 |
copy number gain |
not provided [RCV000741692] |
Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.970-180T>C |
single nucleotide variant |
not provided [RCV001534951] |
Chr22:40914059 [GRCh38] Chr22:41310063 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.793-205C>T |
single nucleotide variant |
not provided [RCV001648773] |
Chr22:40907382 [GRCh38] Chr22:41303386 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.589+145C>T |
single nucleotide variant |
not provided [RCV001612201] |
Chr22:40882322 [GRCh38] Chr22:41278326 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*869T>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147794] |
Chr22:40927304 [GRCh38] Chr22:41323308 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1076C>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147796] |
Chr22:40927511 [GRCh38] Chr22:41323515 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000868490] |
Chr22:40886320 [GRCh38] Chr22:41282324 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_022098.4(XPNPEP3):c.856-2A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000779374]|not provided [RCV005225139] |
Chr22:40909120 [GRCh38] Chr22:41305124 [GRCh37] Chr22:22q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.970-4C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000872341] |
Chr22:40914235 [GRCh38] Chr22:41310239 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1056-9C>T |
single nucleotide variant |
Kidney disorder [RCV002294387]|Nephronophthisis-like nephropathy 1 [RCV002064452]|XPNPEP3-related disorder [RCV003938222]|not specified [RCV003151160] |
Chr22:40922324 [GRCh38] Chr22:41318328 [GRCh37] Chr22:22q13.2 |
benign|likely benign|uncertain significance |
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146790] |
Chr22:40881851 [GRCh38] Chr22:41277855 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*390A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146887] |
Chr22:40926825 [GRCh38] Chr22:41322829 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV000794869] |
Chr22:40869053 [GRCh38] Chr22:41265057 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5445G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147201] |
Chr22:40931880 [GRCh38] Chr22:41327884 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.*5656G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147204] |
Chr22:40932091 [GRCh38] Chr22:41328095 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1531A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145036] |
Chr22:40927966 [GRCh38] Chr22:41323970 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1259A>G (p.His420Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001209560] |
Chr22:40924384 [GRCh38] Chr22:41320388 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.*1301G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149337] |
Chr22:40927736 [GRCh38] Chr22:41323740 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1996T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146990] |
Chr22:40928431 [GRCh38] Chr22:41324435 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.792+13T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147685] |
Chr22:40886528 [GRCh38] Chr22:41282532 [GRCh37] Chr22:22q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.1056-183C>T |
single nucleotide variant |
not provided [RCV001598281] |
Chr22:40922150 [GRCh38] Chr22:41318154 [GRCh37] Chr22:22q13.2 |
benign |
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 |
copy number gain |
not provided [RCV001007181] |
Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.*150T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001144938] |
Chr22:40926585 [GRCh38] Chr22:41322589 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*6105G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001148092] |
Chr22:40932540 [GRCh38] Chr22:41328544 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.589+66A>C |
single nucleotide variant |
not provided [RCV001676263] |
Chr22:40882243 [GRCh38] Chr22:41278247 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.1376A>G (p.Asp459Gly) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001144935] |
Chr22:40926287 [GRCh38] Chr22:41322291 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5106T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145239] |
Chr22:40931541 [GRCh38] Chr22:41327545 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3 |
copy number gain |
not provided [RCV001007190] |
Chr22:40665986..41370008 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.970-40C>G |
single nucleotide variant |
not provided [RCV001614852] |
Chr22:40914199 [GRCh38] Chr22:41310203 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.*1830G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145038] |
Chr22:40928265 [GRCh38] Chr22:41324269 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1394C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149339] |
Chr22:40927829 [GRCh38] Chr22:41323833 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*37T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001144937] |
Chr22:40926472 [GRCh38] Chr22:41322476 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*1557C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145037] |
Chr22:40927992 [GRCh38] Chr22:41323996 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4789C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145238] |
Chr22:40931224 [GRCh38] Chr22:41327228 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5162C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145240] |
Chr22:40931597 [GRCh38] Chr22:41327601 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001057979] |
Chr22:40881806 [GRCh38] Chr22:41277810 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*2312G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146992] |
Chr22:40928747 [GRCh38] Chr22:41324751 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3542A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147100] |
Chr22:40929977 [GRCh38] Chr22:41325981 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*3618A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001147101] |
Chr22:40930053 [GRCh38] Chr22:41326057 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*5294C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001145241] |
Chr22:40931729 [GRCh38] Chr22:41327733 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 |
copy number gain |
not provided [RCV001007502] |
Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.*2175C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001146991] |
Chr22:40928610 [GRCh38] Chr22:41324614 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.*4530C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001149537] |
Chr22:40930965 [GRCh38] Chr22:41326969 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.*5729A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001148090] |
Chr22:40932164 [GRCh38] Chr22:41328168 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_022098.4(XPNPEP3):c.969+5G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001298968] |
Chr22:40909240 [GRCh38] Chr22:41305244 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1090G>A (p.Val364Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004685780] |
Chr22:40922367 [GRCh38] Chr22:41318371 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1236+8_1236+12del |
microsatellite |
Nephronophthisis-like nephropathy 1 [RCV001505724] |
Chr22:40922516..40922520 [GRCh38] Chr22:41318520..41318524 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.181+24C>T |
single nucleotide variant |
not provided [RCV001716597] |
Chr22:40869139 [GRCh38] Chr22:41265143 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.271A>G (p.Ser91Gly) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001915068] |
Chr22:40881859 [GRCh38] Chr22:41277863 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV001883632] |
Chr22:40881937 [GRCh38] Chr22:41277941 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.183G>A (p.Gly61=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002192592] |
Chr22:40881771 [GRCh38] Chr22:41277775 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1357+19A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002185222] |
Chr22:40924501 [GRCh38] Chr22:41320505 [GRCh37] Chr22:22q13.2 |
benign|likely benign |
NM_022098.4(XPNPEP3):c.793-18C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002113143] |
Chr22:40907569 [GRCh38] Chr22:41303573 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.297G>A (p.Val99=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002218967] |
Chr22:40881885 [GRCh38] Chr22:41277889 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln) |
single nucleotide variant |
Kidney disorder [RCV002294723]|Nephronophthisis-like nephropathy 1 [RCV003097864] |
Chr22:40909192 [GRCh38] Chr22:41305196 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.854A>G (p.Lys285Arg) |
single nucleotide variant |
Kidney disorder [RCV002294724] |
Chr22:40907648 [GRCh38] Chr22:41303652 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.823G>T (p.Ala275Ser) |
single nucleotide variant |
Kidney disorder [RCV002294622] |
Chr22:40907617 [GRCh38] Chr22:41303621 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.926G>T (p.Arg309Leu) |
single nucleotide variant |
Kidney disorder [RCV002294727] |
Chr22:40909192 [GRCh38] Chr22:41305196 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.920G>A (p.Arg307Lys) |
single nucleotide variant |
not specified [RCV004159081] |
Chr22:40861075 [GRCh38] Chr22:41257079 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.793-19T>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002993719] |
Chr22:40907568 [GRCh38] Chr22:41303572 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022098.4(XPNPEP3):c.1237-10T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002903323] |
Chr22:40924352 [GRCh38] Chr22:41320356 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002842908] |
Chr22:40881963 [GRCh38] Chr22:41277967 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003055200] |
Chr22:40926399 [GRCh38] Chr22:41322403 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003081529] |
Chr22:40886484 [GRCh38] Chr22:41282488 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.149C>G (p.Ala50Gly) |
single nucleotide variant |
not specified [RCV004119493] |
Chr22:40861846 [GRCh38] Chr22:41257850 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.464G>A (p.Arg155Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002887873] |
Chr22:40882052 [GRCh38] Chr22:41278056 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1363T>C (p.Tyr455His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003037548] |
Chr22:40926274 [GRCh38] Chr22:41322278 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.841A>G (p.Ile281Val) |
single nucleotide variant |
not specified [RCV004161611] |
Chr22:40861154 [GRCh38] Chr22:41257158 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002889176] |
Chr22:40922464 [GRCh38] Chr22:41318468 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002619570]|Nephronophthisis-like nephropathy 1 [RCV002632318] |
Chr22:40881875 [GRCh38] Chr22:41277879 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003075629] |
Chr22:40924386 [GRCh38] Chr22:41320390 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002902903] |
Chr22:40909148 [GRCh38] Chr22:41305152 [GRCh37] Chr22:22q13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_145174.2(DNAJB7):c.250T>C (p.Cys84Arg) |
single nucleotide variant |
not specified [RCV004218962] |
Chr22:40861745 [GRCh38] Chr22:41257749 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 |
copy number gain |
not provided [RCV002475709] |
Chr22:39768795..41946225 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002970919] |
Chr22:40881981 [GRCh38] Chr22:41277985 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.51C>T (p.Val17=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002639736] |
Chr22:40857232 [GRCh38] Chr22:41253236 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1159A>G (p.Met387Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002830770] |
Chr22:40922436 [GRCh38] Chr22:41318440 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.35G>A (p.Arg12Lys) |
single nucleotide variant |
not specified [RCV004125455] |
Chr22:40861960 [GRCh38] Chr22:41257964 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002801006] |
Chr22:40926338 [GRCh38] Chr22:41322342 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.51G>C (p.Glu17Asp) |
single nucleotide variant |
not specified [RCV004182769] |
Chr22:40861944 [GRCh38] Chr22:41257948 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.442G>C (p.Glu148Gln) |
single nucleotide variant |
not specified [RCV004141385] |
Chr22:40861553 [GRCh38] Chr22:41257557 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.283G>T (p.Asp95Tyr) |
single nucleotide variant |
not specified [RCV004126247] |
Chr22:40861712 [GRCh38] Chr22:41257716 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.68G>A (p.Cys23Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002804000] |
Chr22:40869002 [GRCh38] Chr22:41265006 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.197A>G (p.Asp66Gly) |
single nucleotide variant |
not specified [RCV004090525] |
Chr22:40861798 [GRCh38] Chr22:41257802 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.64+9C>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002628644] |
Chr22:40857254 [GRCh38] Chr22:41253258 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1402C>T (p.Arg468Trp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002966231] |
Chr22:40926313 [GRCh38] Chr22:41322317 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003048999] |
Chr22:40926394 [GRCh38] Chr22:41322398 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.700C>T (p.Arg234Trp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002938262] |
Chr22:40886423 [GRCh38] Chr22:41282427 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.856-14G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003065271] |
Chr22:40909108 [GRCh38] Chr22:41305112 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1449C>T (p.Asp483=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002583734] |
Chr22:40926360 [GRCh38] Chr22:41322364 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1450T>C (p.Ser484Pro) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003597931] |
Chr22:40926361 [GRCh38] Chr22:41322365 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.970-18T>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003598326] |
Chr22:40914221 [GRCh38] Chr22:41310225 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003827981] |
Chr22:40882155 [GRCh38] Chr22:41278159 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.969+17C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003598184] |
Chr22:40909252 [GRCh38] Chr22:41305256 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.182-3T>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003497236] |
Chr22:40881767 [GRCh38] Chr22:41277771 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 |
copy number gain |
not specified [RCV003986179] |
Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31 |
pathogenic |
NM_145174.2(DNAJB7):c.643G>T (p.Asp215Tyr) |
single nucleotide variant |
not specified [RCV004622157] |
Chr22:40861352 [GRCh38] Chr22:41257356 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1418G>A (p.Arg473Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034841] |
Chr22:40926329 [GRCh38] Chr22:41322333 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.310A>G (p.Thr104Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030892] |
Chr22:40881898 [GRCh38] Chr22:41277902 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.473C>G (p.Pro158Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030893] |
Chr22:40882061 [GRCh38] Chr22:41278065 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.645C>G (p.His215Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030895] |
Chr22:40886368 [GRCh38] Chr22:41282372 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.760C>T (p.Arg254Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030896] |
Chr22:40886483 [GRCh38] Chr22:41282487 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.1364A>T (p.Tyr455Phe) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030912] |
Chr22:40926275 [GRCh38] Chr22:41322279 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1358-2A>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030911] |
Chr22:40926267 [GRCh38] Chr22:41322271 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.627C>T (p.Pro209=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005178967] |
Chr22:40886350 [GRCh38] Chr22:41282354 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.540C>T (p.Asp180=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005206142] |
Chr22:40882128 [GRCh38] Chr22:41278132 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.582A>C (p.Lys194Asn) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005182374] |
Chr22:40882170 [GRCh38] Chr22:41278174 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_145174.2(DNAJB7):c.19G>A (p.Val7Ile) |
single nucleotide variant |
not specified [RCV004206644] |
Chr22:40861976 [GRCh38] Chr22:41257980 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.774T>C (p.Ala258=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002766034] |
Chr22:40886497 [GRCh38] Chr22:41282501 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1517C>T (p.Ala506Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002826539] |
Chr22:40926428 [GRCh38] Chr22:41322432 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1314T>A (p.Arg438=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003022292] |
Chr22:40924439 [GRCh38] Chr22:41320443 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1453C>G (p.Pro485Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002929765] |
Chr22:40926364 [GRCh38] Chr22:41322368 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.917G>A (p.Gly306Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002892251] |
Chr22:40909183 [GRCh38] Chr22:41305187 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.64+5G>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002800990] |
Chr22:40857250 [GRCh38] Chr22:41253254 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.761G>T (p.Arg254Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002914574] |
Chr22:40886484 [GRCh38] Chr22:41282488 [GRCh37] Chr22:22q13.2 |
benign |
NM_022098.4(XPNPEP3):c.40G>A (p.Val14Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002744769] |
Chr22:40857221 [GRCh38] Chr22:41253225 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.687C>G (p.Ser229Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002804111] |
Chr22:40886410 [GRCh38] Chr22:41282414 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1182G>A (p.Gln394=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003025559] |
Chr22:40922459 [GRCh38] Chr22:41318463 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.65-17C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003087998] |
Chr22:40868982 [GRCh38] Chr22:41264986 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003061335] |
Chr22:40886463 [GRCh38] Chr22:41282467 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002834200] |
Chr22:40886448 [GRCh38] Chr22:41282452 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1328A>G (p.Gln443Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002959444] |
Chr22:40924453 [GRCh38] Chr22:41320457 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1077A>G (p.Glu359=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002632846] |
Chr22:40922354 [GRCh38] Chr22:41318358 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002959196] |
Chr22:40922370 [GRCh38] Chr22:41318374 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.855+11G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002647670] |
Chr22:40907660 [GRCh38] Chr22:41303664 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_145174.2(DNAJB7):c.114T>G (p.Asn38Lys) |
single nucleotide variant |
not specified [RCV004221866] |
Chr22:40861881 [GRCh38] Chr22:41257885 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004963424]|Nephronophthisis-like nephropathy 1 [RCV003070504] |
Chr22:40881880 [GRCh38] Chr22:41277884 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1379A>G (p.Asp460Gly) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002609048] |
Chr22:40926290 [GRCh38] Chr22:41322294 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV002589727] |
Chr22:40881877 [GRCh38] Chr22:41277881 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.368C>T (p.Pro123Leu) |
single nucleotide variant |
not specified [RCV004254243] |
Chr22:40861627 [GRCh38] Chr22:41257631 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs) |
deletion |
Nephronophthisis-like nephropathy 1 [RCV003224901] |
Chr22:40922471..40922477 [GRCh38] Chr22:41318475..41318481 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_145174.2(DNAJB7):c.600T>A (p.Asn200Lys) |
single nucleotide variant |
not specified [RCV004266663] |
Chr22:40861395 [GRCh38] Chr22:41257399 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.496G>A (p.Glu166Lys) |
single nucleotide variant |
not specified [RCV004263254] |
Chr22:40861499 [GRCh38] Chr22:41257503 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003224900] |
Chr22:40886381 [GRCh38] Chr22:41282385 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.394A>G (p.Ser132Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003215760]|Nephronophthisis-like nephropathy 1 [RCV005036700] |
Chr22:40881982 [GRCh38] Chr22:41277986 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1279G>A (p.Gly427Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003201627] |
Chr22:40924404 [GRCh38] Chr22:41320408 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.490G>C (p.Gly164Arg) |
single nucleotide variant |
not specified [RCV004312374] |
Chr22:40861505 [GRCh38] Chr22:41257509 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1360A>T (p.Ile454Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003343304] |
Chr22:40926271 [GRCh38] Chr22:41322275 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.877A>G (p.Lys293Glu) |
single nucleotide variant |
not specified [RCV004350718] |
Chr22:40861118 [GRCh38] Chr22:41257122 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.160G>A (p.Glu54Lys) |
single nucleotide variant |
not specified [RCV004348622] |
Chr22:40861835 [GRCh38] Chr22:41257839 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3 |
copy number gain |
Syndromic craniosynostosis [RCV003481509] |
Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.411G>A (p.Gln137=) |
single nucleotide variant |
not provided [RCV003433240] |
Chr22:40881999 [GRCh38] Chr22:41278003 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.65-10C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003831055] |
Chr22:40868989 [GRCh38] Chr22:41264993 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003597861] |
Chr22:40881838 [GRCh38] Chr22:41277842 [GRCh37] Chr22:22q13.2 |
pathogenic |
NM_022098.4(XPNPEP3):c.969+13C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003597907] |
Chr22:40909248 [GRCh38] Chr22:41305252 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1056-5C>G |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003494650] |
Chr22:40922328 [GRCh38] Chr22:41318332 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003497243] |
Chr22:40886338 [GRCh38] Chr22:41282342 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1055+15G>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005084746] |
Chr22:40914339 [GRCh38] Chr22:41310343 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003497021] |
Chr22:40882050 [GRCh38] Chr22:41278054 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1056-8G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV003496960] |
Chr22:40922325 [GRCh38] Chr22:41318329 [GRCh37] Chr22:22q13.2 |
likely benign |
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1 |
copy number loss |
not specified [RCV003986188] |
Chr22:39935185..41752098 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.577C>T (p.Pro193Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004485614]|Nephronophthisis-like nephropathy 1 [RCV004771550] |
Chr22:40882165 [GRCh38] Chr22:41278169 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.580A>G (p.Lys194Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004485616]|Nephronophthisis-like nephropathy 1 [RCV005023548] |
Chr22:40882168 [GRCh38] Chr22:41278172 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1261C>A (p.His421Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004485613] |
Chr22:40924386 [GRCh38] Chr22:41320390 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.616T>C (p.Trp206Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004485617] |
Chr22:40886339 [GRCh38] Chr22:41282343 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.365G>A (p.Arg122His) |
single nucleotide variant |
not specified [RCV004379288] |
Chr22:40861630 [GRCh38] Chr22:41257634 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_145174.2(DNAJB7):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
not specified [RCV004379294] |
Chr22:40861189 [GRCh38] Chr22:41257193 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.869G>A (p.Gly290Asp) |
single nucleotide variant |
not specified [RCV004379295] |
Chr22:40861126 [GRCh38] Chr22:41257130 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.275A>C (p.Lys92Thr) |
single nucleotide variant |
not specified [RCV004379286] |
Chr22:40861720 [GRCh38] Chr22:41257724 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.890G>A (p.Arg297His) |
single nucleotide variant |
not specified [RCV004379296] |
Chr22:40861105 [GRCh38] Chr22:41257109 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_145174.2(DNAJB7):c.926G>C (p.Cys309Ser) |
single nucleotide variant |
not specified [RCV004379297] |
Chr22:40861069 [GRCh38] Chr22:41257073 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.14A>G (p.Tyr5Cys) |
single nucleotide variant |
not specified [RCV004379283] |
Chr22:40861981 [GRCh38] Chr22:41257985 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.410T>G (p.Phe137Cys) |
single nucleotide variant |
not specified [RCV004379289] |
Chr22:40861585 [GRCh38] Chr22:41257589 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.308A>C (p.Glu103Ala) |
single nucleotide variant |
not specified [RCV004379287] |
Chr22:40861687 [GRCh38] Chr22:41257691 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.556T>C (p.Ser186Pro) |
single nucleotide variant |
not specified [RCV004379290] |
Chr22:40861439 [GRCh38] Chr22:41257443 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.661T>G (p.Phe221Val) |
single nucleotide variant |
not specified [RCV004379292] |
Chr22:40861334 [GRCh38] Chr22:41257338 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.688G>A (p.Glu230Lys) |
single nucleotide variant |
not specified [RCV004379293] |
Chr22:40861307 [GRCh38] Chr22:41257311 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_39306081)_(41904073_?)dup |
duplication |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118] |
Chr22:39306081..41904073 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.596C>T (p.Thr199Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004685779]|Nephronophthisis-like nephropathy 1 [RCV005023630]|not provided [RCV004791714] |
Chr22:40886319 [GRCh38] Chr22:41282323 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.185G>A (p.Arg62Gln) |
single nucleotide variant |
not specified [RCV004622156] |
Chr22:40861810 [GRCh38] Chr22:41257814 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.364C>G (p.Arg122Gly) |
single nucleotide variant |
not specified [RCV004622155] |
Chr22:40861631 [GRCh38] Chr22:41257635 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.239T>C (p.Phe80Ser) |
single nucleotide variant |
not specified [RCV004622158] |
Chr22:40861756 [GRCh38] Chr22:41257760 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.499C>T (p.Arg167Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV004798106] |
Chr22:40882087 [GRCh38] Chr22:41278091 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.1385A>G (p.Asp462Gly) |
single nucleotide variant |
not provided [RCV004790888] |
Chr22:40926296 [GRCh38] Chr22:41322300 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1345A>G (p.Thr449Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV004764471] |
Chr22:40924470 [GRCh38] Chr22:41320474 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_145174.2(DNAJB7):c.554T>C (p.Ile185Thr) |
single nucleotide variant |
not specified [RCV004918076] |
Chr22:40861441 [GRCh38] Chr22:41257445 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.768G>C (p.Gln256His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034838] |
Chr22:40886491 [GRCh38] Chr22:41282495 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1231T>C (p.Phe411Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034840] |
Chr22:40922508 [GRCh38] Chr22:41318512 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1485G>C (p.Glu495Asp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034842] |
Chr22:40926396 [GRCh38] Chr22:41322400 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.746C>T (p.Pro249Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034837] |
Chr22:40886469 [GRCh38] Chr22:41282473 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1007C>G (p.Ser336Cys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005034839] |
Chr22:40914276 [GRCh38] Chr22:41310280 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030879] |
Chr22:40857184 [GRCh38] Chr22:41253188 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.13C>T (p.Leu5Phe) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030881] |
Chr22:40857194 [GRCh38] Chr22:41253198 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.17C>T (p.Ser6Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030882] |
Chr22:40857198 [GRCh38] Chr22:41253202 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.19G>A (p.Ala7Thr) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030883] |
Chr22:40857200 [GRCh38] Chr22:41253204 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.116G>A (p.Arg39Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030887] |
Chr22:40869050 [GRCh38] Chr22:41265054 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.232A>C (p.Lys78Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030890] |
Chr22:40881820 [GRCh38] Chr22:41277824 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.481G>A (p.Glu161Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030894] |
Chr22:40882069 [GRCh38] Chr22:41278073 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.769A>G (p.Ile257Val) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030897] |
Chr22:40886492 [GRCh38] Chr22:41282496 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.925C>T (p.Arg309Trp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030903] |
Chr22:40909191 [GRCh38] Chr22:41305195 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.904C>G (p.Pro302Ala) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030901] |
Chr22:40909170 [GRCh38] Chr22:41305174 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1469C>T (p.Ala490Val) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030914] |
Chr22:40926380 [GRCh38] Chr22:41322384 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1295A>G (p.Asp432Gly) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030908] |
Chr22:40924420 [GRCh38] Chr22:41320424 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1034G>A (p.Arg345His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030906] |
Chr22:40914303 [GRCh38] Chr22:41310307 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.25A>C (p.Lys9Gln) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032851] |
Chr22:40857206 [GRCh38] Chr22:41253210 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.589+1G>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032857] |
Chr22:40882178 [GRCh38] Chr22:41278182 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.224G>A (p.Arg75His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030889] |
Chr22:40881812 [GRCh38] Chr22:41277816 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.307C>A (p.Pro103Thr) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030891] |
Chr22:40881895 [GRCh38] Chr22:41277899 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.810G>T (p.Met270Ile) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030898] |
Chr22:40907604 [GRCh38] Chr22:41303608 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.558A>T (p.Glu186Asp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032856] |
Chr22:40882146 [GRCh38] Chr22:41278150 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.701G>T (p.Arg234Leu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032858] |
Chr22:40886424 [GRCh38] Chr22:41282428 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.354C>A (p.Asp118Glu) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032855] |
Chr22:40881942 [GRCh38] Chr22:41277946 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.130C>T (p.Arg44Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032853] |
Chr22:40869064 [GRCh38] Chr22:41265068 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.1308G>T (p.Met436Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004967567] |
Chr22:40924433 [GRCh38] Chr22:41320437 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.454T>C (p.Phe152Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004967568] |
Chr22:40882042 [GRCh38] Chr22:41278046 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.52C>T (p.Arg18Cys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030884] |
Chr22:40857233 [GRCh38] Chr22:41253237 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.64+6A>C |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030885] |
Chr22:40857251 [GRCh38] Chr22:41253255 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.89G>A (p.Arg30Lys) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030886] |
Chr22:40869023 [GRCh38] Chr22:41265027 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1306A>G (p.Met436Val) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030909] |
Chr22:40924431 [GRCh38] Chr22:41320435 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.992A>G (p.Asp331Gly) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030905] |
Chr22:40914261 [GRCh38] Chr22:41310265 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.878G>A (p.Arg293His) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030900] |
Chr22:40909144 [GRCh38] Chr22:41305148 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.855+1G>A |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030899] |
Chr22:40907650 [GRCh38] Chr22:41303654 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.97del (p.Leu33fs) |
deletion |
Nephronophthisis-like nephropathy 1 [RCV005032852] |
Chr22:40869029 [GRCh38] Chr22:41265033 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.287C>G (p.Thr96Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005032854] |
Chr22:40881875 [GRCh38] Chr22:41277879 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1507T>C (p.Cys503Arg) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030915] |
Chr22:40926418 [GRCh38] Chr22:41322422 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1412G>A (p.Gly471Asp) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030913] |
Chr22:40926323 [GRCh38] Chr22:41322327 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1044A>G (p.Pro348=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005030907] |
Chr22:40914313 [GRCh38] Chr22:41310317 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.937_938del (p.Leu313fs) |
deletion |
Nephronophthisis-like nephropathy 1 [RCV005030904] |
Chr22:40909202..40909203 [GRCh38] Chr22:41305206..41305207 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.1076A>G (p.Glu359Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004967566] |
Chr22:40922353 [GRCh38] Chr22:41318357 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1016A>G (p.Tyr339Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004967565] |
Chr22:40914285 [GRCh38] Chr22:41310289 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.1215del (p.Lys406fs) |
deletion |
not provided [RCV005227273] |
Chr22:40922491 [GRCh38] Chr22:41318495 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_022098.4(XPNPEP3):c.466C>T (p.Arg156Ter) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005233201] |
Chr22:40882054 [GRCh38] Chr22:41278058 [GRCh37] Chr22:22q13.2 |
likely pathogenic |
NM_022098.4(XPNPEP3):c.60C>T (p.Leu20=) |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005138880] |
Chr22:40857241 [GRCh38] Chr22:41253245 [GRCh37] Chr22:22q13.2 |
likely benign |
NM_022098.4(XPNPEP3):c.1056-5C>T |
single nucleotide variant |
Nephronophthisis-like nephropathy 1 [RCV005152604] |
Chr22:40922328 [GRCh38] Chr22:41318332 [GRCh37] Chr22:22q13.2 |
likely benign |