NM_006563.5(KLF1):c.591C>G (p.Tyr197Ter) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033157] |
Chr19:12885639 [GRCh38] Chr19:12996453 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.5(KLF1):c.569del (p.Pro190fs) |
deletion |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009563] |
Chr19:12885661 [GRCh38] Chr19:12996475 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.954dup (p.Arg319fs) |
duplication |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009562] |
Chr19:12885019..12885020 [GRCh38] Chr19:12995833..12995834 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.874A>T (p.Lys292Ter) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009564] |
Chr19:12885356 [GRCh38] Chr19:12996170 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.895C>T (p.His299Tyr) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000009565] |
Chr19:12885335 [GRCh38] Chr19:12996149 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.862A>T (p.Lys288Ter) |
single nucleotide variant |
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED [RCV000009566] |
Chr19:12885368 [GRCh38] Chr19:12996182 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.973G>A (p.Glu325Lys) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990153]|Congenital dyserythropoietic anemia, type IV [RCV000009567] |
Chr19:12885001 [GRCh38] Chr19:12995815 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.892G>C (p.Ala298Pro) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000050236] |
Chr19:12885338 [GRCh38] Chr19:12996152 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000050237] |
Chr19:12884962 [GRCh38] Chr19:12995776 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.977T>G (p.Leu326Arg) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033155] |
Chr19:12884997 [GRCh38] Chr19:12995811 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_006563.4(KLF1):c.1071C>A (p.His357Gln) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000033156] |
Chr19:12884903 [GRCh38] Chr19:12995717 [GRCh37] Chr19:19p13.13 |
pathogenic |
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
See cases [RCV000052908] |
Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 |
copy number gain |
See cases [RCV000052909] |
Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 |
copy number gain |
See cases [RCV000052910] |
Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 |
copy number gain |
See cases [RCV000052911] |
Chr19:12850595..13290954 [GRCh38] Chr19:12961409..13401768 [GRCh37] Chr19:12822409..13262768 [NCBI36] Chr19:19p13.13 |
pathogenic |
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 |
copy number gain |
See cases [RCV000054144] |
Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] |
Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 |
copy number loss |
See cases [RCV000053945] |
Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_006563.4(KLF1):c.1001C>G (p.Thr334Arg) |
single nucleotide variant |
not provided [RCV000087154] |
Chr19:12884973 [GRCh38] Chr19:12995787 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_006563.4(KLF1):c.1022G>A (p.Cys341Tyr) |
single nucleotide variant |
not provided [RCV000087155] |
Chr19:12884952 [GRCh38] Chr19:12995766 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_006563.4(KLF1):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990156]|not provided [RCV000087156] |
Chr19:12887128 [GRCh38] Chr19:12997942 [GRCh37] Chr19:19p13.13 |
benign|not provided |
NM_006563.4(KLF1):c.519_525dup (p.Gly176fs) |
duplication |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990155]|not provided [RCV000087157] |
Chr19:12885704..12885705 [GRCh38] Chr19:12996518..12996519 [GRCh37] Chr19:19p13.13 |
likely pathogenic|benign |
NM_006563.4(KLF1):c.895C>G (p.His299Asp) |
single nucleotide variant |
not provided [RCV000087158] |
Chr19:12885335 [GRCh38] Chr19:12996149 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_006563.4(KLF1):c.913+1G>A |
single nucleotide variant |
not provided [RCV000087159] |
Chr19:12885316 [GRCh38] Chr19:12996130 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 |
copy number loss |
See cases [RCV000135937] |
Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic|likely pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 |
copy number loss |
See cases [RCV000136909] |
Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 |
copy number loss |
See cases [RCV000141568] |
Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_006563.4(KLF1):c.954G>C (p.Trp318Cys) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000240027] |
Chr19:12885020 [GRCh38] Chr19:12995834 [GRCh37] Chr19:19p13.13 |
affects |
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000350669]|not specified [RCV000251710] |
Chr19:12885926 [GRCh38] Chr19:12996740 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.4(KLF1):c.478G>A (p.Glu160Lys) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000290356] |
Chr19:12885752 [GRCh38] Chr19:12996566 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.544T>C (p.Phe182Leu) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000320797] |
Chr19:12885686 [GRCh38] Chr19:12996500 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.4(KLF1):c.286C>T (p.Leu96=) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000391619] |
Chr19:12885944 [GRCh38] Chr19:12996758 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.115A>C (p.Met39Leu) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000391626] |
Chr19:12886115 [GRCh38] Chr19:12996929 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*311A>G |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000343838] |
Chr19:12884574 [GRCh38] Chr19:12995388 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.*454C>G |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000392357] |
Chr19:12884431 [GRCh38] Chr19:12995245 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*296G>A |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000392363] |
Chr19:12884589 [GRCh38] Chr19:12995403 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.4(KLF1):c.259C>G (p.Pro87Ala) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000311019] |
Chr19:12885971 [GRCh38] Chr19:12996785 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_006563.4(KLF1):c.*291A>G |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000312901] |
Chr19:12884594 [GRCh38] Chr19:12995408 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*277C>T |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000367515] |
Chr19:12884608 [GRCh38] Chr19:12995422 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.4(KLF1):c.690C>T (p.Ala230=) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000324445] |
Chr19:12885540 [GRCh38] Chr19:12996354 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.629C>G (p.Pro210Arg) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000378844] |
Chr19:12885601 [GRCh38] Chr19:12996415 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.325C>T (p.Pro109Ser) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000381166]|not provided [RCV000960983] |
Chr19:12885905 [GRCh38] Chr19:12996719 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.4(KLF1):c.520G>T (p.Gly174Cys) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000384698] |
Chr19:12885710 [GRCh38] Chr19:12996524 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*185G>A |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000354738] |
Chr19:12884700 [GRCh38] Chr19:12995514 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.606G>A (p.Gly202=) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000265631] |
Chr19:12885624 [GRCh38] Chr19:12996438 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.*22T>A |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000259919] |
Chr19:12884863 [GRCh38] Chr19:12995677 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*367C>G |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000314638] |
Chr19:12884518 [GRCh38] Chr19:12995332 [GRCh37] Chr19:19p13.13 |
likely benign|uncertain significance |
NM_006563.4(KLF1):c.311C>T (p.Ala104Val) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000296138] |
Chr19:12885919 [GRCh38] Chr19:12996733 [GRCh37] Chr19:19p13.13 |
benign|likely benign |
NM_006563.4(KLF1):c.*263C>T |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000263507] |
Chr19:12884622 [GRCh38] Chr19:12995436 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.*254C>T |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000299855] |
Chr19:12884631 [GRCh38] Chr19:12995445 [GRCh37] Chr19:19p13.13 |
benign|uncertain significance |
NM_006563.4(KLF1):c.353G>A (p.Gly118Asp) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000345252] |
Chr19:12885877 [GRCh38] Chr19:12996691 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.4(KLF1):c.255G>A (p.Pro85=) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV000337856] |
Chr19:12885975 [GRCh38] Chr19:12996789 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 |
copy number loss |
See cases [RCV000449161] |
Chr19:12204632..13497073 [GRCh37] Chr19:19p13.2 |
pathogenic |
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) |
copy number gain |
See cases [RCV000446985] |
Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 |
copy number loss |
See cases [RCV000511130] |
Chr19:12574343..14726197 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 |
copy number gain |
See cases [RCV000511013] |
Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_006563.4(KLF1):c.421C>T (p.Arg141Ter) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000617799] |
Chr19:12885809 [GRCh38] Chr19:12996623 [GRCh37] Chr19:19p13.13 |
affects |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_006563.5(KLF1):c.1059C>T (p.His353=) |
single nucleotide variant |
not provided [RCV000940567] |
Chr19:12884915 [GRCh38] Chr19:12995729 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_006563.5(KLF1):c.19G>A (p.Ala7Thr) |
single nucleotide variant |
not provided [RCV000966611] |
Chr19:12887122 [GRCh38] Chr19:12997936 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp) |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV000990154] |
Chr19:12885421 [GRCh38] Chr19:12996235 [GRCh37] Chr19:19p13.13 |
benign |
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 |
copy number loss |
not provided [RCV000846538] |
Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001126602] |
Chr19:12885427 [GRCh38] Chr19:12996241 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.5(KLF1):c.1079G>A (p.Arg360His) |
single nucleotide variant |
Epicanthus [RCV001198332] |
Chr19:12884895 [GRCh38] Chr19:12995709 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001128657] |
Chr19:12885689 [GRCh38] Chr19:12996503 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001128658] |
Chr19:12885821 [GRCh38] Chr19:12996635 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.*2C>T |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001123935] |
Chr19:12884883 [GRCh38] Chr19:12995697 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001126600] |
Chr19:12884938 [GRCh38] Chr19:12995752 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001126601] |
Chr19:12884958 [GRCh38] Chr19:12995772 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001126604] |
Chr19:12885554 [GRCh38] Chr19:12996368 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001126603] |
Chr19:12885473 [GRCh38] Chr19:12996287 [GRCh37] Chr19:19p13.13 |
benign |
NM_006563.5(KLF1):c.*312G>C |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001122850] |
Chr19:12884573 [GRCh38] Chr19:12995387 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_006563.5(KLF1):c.-43G>A |
single nucleotide variant |
Congenital dyserythropoietic anemia, type IV [RCV001122969] |
Chr19:12887183 [GRCh38] Chr19:12997997 [GRCh37] Chr19:19p13.13 |
likely benign |