GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 |
copy number gain |
See cases [RCV000134164] |
Chr19:3947934..5196676 [GRCh38] Chr19:3947932..5196687 [GRCh37] Chr19:3898932..5147687 [NCBI36] Chr19:19p13.3 |
pathogenic|uncertain significance |
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 |
copy number loss |
See cases [RCV000134482] |
Chr19:3338024..4833139 [GRCh38] Chr19:3338022..4833151 [GRCh37] Chr19:3289022..4784151 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 |
copy number gain |
See cases [RCV000137713] |
Chr19:3080621..4912622 [GRCh38] Chr19:3080619..4912634 [GRCh37] Chr19:3031619..4863634 [NCBI36] Chr19:19p13.3 |
likely pathogenic |
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 |
copy number gain |
See cases [RCV000142627] |
Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 |
copy number loss |
See cases [RCV000143614] |
Chr19:3788727..5147354 [GRCh38] Chr19:3788725..5147365 [GRCh37] Chr19:3739725..5098365 [NCBI36] Chr19:19p13.3 |
likely pathogenic |
GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1 |
copy number loss |
See cases [RCV000051190] |
Chr19:4417986..4721866 [GRCh38] Chr19:4417983..4721878 [GRCh37] Chr19:4368983..4672878 [NCBI36] Chr19:19p13.3 |
uncertain significance |
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] |
Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 |
copy number gain |
See cases [RCV000052880] |
Chr19:4008560..4763159 [GRCh38] Chr19:4008558..4763171 [GRCh37] Chr19:3959558..4714171 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 |
copy number gain |
See cases [RCV000052575] |
Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 |
copy number gain |
See cases [RCV000052879] |
Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] |
Chr19:4039158..9176125 [GRCh38] Chr19:4039156..9286801 [GRCh37] Chr19:3990156..9147801 [NCBI36] Chr19:19p13.3-13.2 |
pathogenic |
NM_139159.5(DPP9):c.2404G>A (p.Val802Ile) |
single nucleotide variant |
not specified [RCV004331645] |
Chr19:4682766 [GRCh38] Chr19:4682778 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
not specified [RCV004303790] |
Chr19:4685712 [GRCh38] Chr19:4685724 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2425G>A (p.Gly809Ser) |
single nucleotide variant |
not specified [RCV004137103] |
Chr19:4682745 [GRCh38] Chr19:4682757 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2119G>A (p.Asp707Asn) |
single nucleotide variant |
not specified [RCV004100411] |
Chr19:4684722 [GRCh38] Chr19:4684734 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.1933C>T (p.Arg645Cys) |
single nucleotide variant |
not specified [RCV004157816] |
Chr19:4685724 [GRCh38] Chr19:4685736 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2494C>T (p.Leu832Phe) |
single nucleotide variant |
not specified [RCV004279173] |
Chr19:4679927 [GRCh38] Chr19:4679939 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2551C>T (p.Gln851Ter) |
single nucleotide variant |
Hatipoglu immunodeficiency syndrome [RCV003224653] |
Chr19:4679870 [GRCh38] Chr19:4679882 [GRCh37] Chr19:19p13.3 |
pathogenic |
NM_139159.5(DPP9):c.2359G>A (p.Val787Ile) |
single nucleotide variant |
not specified [RCV004342346] |
Chr19:4682811 [GRCh38] Chr19:4682823 [GRCh37] Chr19:19p13.3 |
uncertain significance |
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 |
copy number loss |
See cases [RCV000053943] |
Chr19:3554635..4690965 [GRCh38] Chr19:3554633..4690977 [GRCh37] Chr19:3505633..4641977 [NCBI36] Chr19:19p13.3 |
pathogenic |
NM_139159.5(DPP9):c.2071T>C (p.Leu691=) |
single nucleotide variant |
not provided [RCV000911593] |
Chr19:4684770 [GRCh38] Chr19:4684782 [GRCh37] Chr19:19p13.3 |
likely benign |
NM_139159.5(DPP9):c.2178G>A (p.Met726Ile) |
single nucleotide variant |
Susceptibility to severe COVID-19 [RCV004598559] |
Chr19:4684663 [GRCh38] Chr19:4684675 [GRCh37] Chr19:19p13.3 |
likely pathogenic |
NM_139159.5(DPP9):c.1892C>T (p.Pro631Leu) |
single nucleotide variant |
not specified [RCV004360573] |
Chr19:4685765 [GRCh38] Chr19:4685777 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2220C>A (p.Phe740Leu) |
single nucleotide variant |
not specified [RCV004351535] |
Chr19:4683588 [GRCh38] Chr19:4683600 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.1975G>A (p.Ala659Thr) |
single nucleotide variant |
not specified [RCV004619749] |
Chr19:4685682 [GRCh38] Chr19:4685694 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.1990A>G (p.Lys664Glu) |
single nucleotide variant |
not specified [RCV004619754] |
Chr19:4685667 [GRCh38] Chr19:4685679 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2245G>A (p.Asp749Asn) |
single nucleotide variant |
not specified [RCV004914228] |
Chr19:4683563 [GRCh38] Chr19:4683575 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.1934G>A (p.Arg645His) |
single nucleotide variant |
Hatipoglu immunodeficiency syndrome [RCV005055256] |
Chr19:4685723 [GRCh38] Chr19:4685735 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2122G>A (p.Gly708Ser) |
single nucleotide variant |
not specified [RCV004914219] |
Chr19:4684719 [GRCh38] Chr19:4684731 [GRCh37] Chr19:19p13.3 |
uncertain significance |
NM_139159.5(DPP9):c.2023G>A (p.Gly675Ser) |
single nucleotide variant |
not specified [RCV004376909] |
Chr19:4685634 [GRCh38] Chr19:4685646 [GRCh37] Chr19:19p13.3 |
uncertain significance |