GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 |
copy number gain |
See cases [RCV000050866] |
Chr12:118165459..133182322 [GRCh38] Chr12:118603264..133758908 [GRCh37] Chr12:117087647..132268981 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 |
copy number gain |
See cases [RCV000051981] |
Chr12:119286893..122638552 [GRCh38] Chr12:119724698..123123099 [GRCh37] Chr12:118209081..121689052 [NCBI36] Chr12:12q24.23-24.31 |
uncertain significance |
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 |
copy number gain |
See cases [RCV000053689] |
Chr12:115131583..133166920 [GRCh38] Chr12:115569388..133743506 [GRCh37] Chr12:114053771..132253579 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] |
Chr12:119417382..133191400 [GRCh38] Chr12:119855187..133767986 [GRCh37] Chr12:118339570..132278059 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
NM_012240.2(SIRT4):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
Malignant melanoma [RCV000069851] |
Chr12:120312527 [GRCh38] Chr12:120750330 [GRCh37] Chr12:119234713 [NCBI36] Chr12:12q24.31 |
not provided |
NR_003137.3(RNU4-2):n.65A>G |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004799711] |
Chr12:120291839 [GRCh38] Chr12:120729642 [GRCh37] Chr12:12q24.23 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 |
copy number gain |
See cases [RCV000143656] |
Chr12:114268403..133201316 [GRCh38] Chr12:114706208..133777902 [GRCh37] Chr12:113190591..132287975 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3 |
copy number gain |
See cases [RCV000447605] |
Chr12:118486842..120995382 [GRCh37] Chr12:12q24.23-24.31 |
likely pathogenic |
GRCh37/hg19 12q24.23-24.31(chr12:120600171-120812991)x3 |
copy number gain |
See cases [RCV000448236] |
Chr12:120600171..120812991 [GRCh37] Chr12:12q24.23-24.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_012240.3(SIRT4):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
not specified [RCV004302648] |
Chr12:120303850 [GRCh38] Chr12:120741653 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 |
copy number gain |
not provided [RCV000683452] |
Chr12:120516089..121376736 [GRCh37] Chr12:12q24.23-24.31 |
uncertain significance |
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 |
copy number gain |
not provided [RCV000738070] |
Chr12:120367241..133777645 [GRCh37] Chr12:12q24.23-24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_012240.3(SIRT4):c.852A>T (p.Ile284=) |
single nucleotide variant |
not provided [RCV000886900] |
Chr12:120312943 [GRCh38] Chr12:120750746 [GRCh37] Chr12:12q24.31 |
benign |
NM_012240.3(SIRT4):c.304C>T (p.Arg102Cys) |
single nucleotide variant |
not provided [RCV000888162] |
Chr12:120303865 [GRCh38] Chr12:120741668 [GRCh37] Chr12:12q24.31 |
benign |
NM_012240.3(SIRT4):c.806A>C (p.Tyr269Ser) |
single nucleotide variant |
not specified [RCV004326396] |
Chr12:120312897 [GRCh38] Chr12:120750700 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NR_003137.3(RNU4-2):n.43_44insT |
insertion |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004812541] |
Chr12:120291860..120291861 [GRCh38] Chr12:120729663..120729664 [GRCh37] Chr12:12q24.23 |
uncertain significance |
NR_003137.3(RNU4-2):n.30A>T |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004812542] |
Chr12:120291874 [GRCh38] Chr12:120729677 [GRCh37] Chr12:12q24.23 |
uncertain significance |
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 |
copy number gain |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] |
Chr12:117461902..133841395 [GRCh37] Chr12:12q24.22-24.33 |
likely pathogenic |
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) |
copy number gain |
not specified [RCV002053027] |
Chr12:118486842..120995382 [GRCh37] Chr12:12q24.23-24.31 |
likely pathogenic |
NR_003137.3(RNU4-2):n.69C>T |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004799707] |
Chr12:120291835 [GRCh38] Chr12:120729638 [GRCh37] Chr12:12q24.23 |
likely pathogenic |
NM_012240.3(SIRT4):c.755A>C (p.Glu252Ala) |
single nucleotide variant |
not specified [RCV004297067] |
Chr12:120312713 [GRCh38] Chr12:120750516 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3 |
copy number gain |
not provided [RCV002473613] |
Chr12:120665945..120951612 [GRCh37] Chr12:12q24.23-24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.403G>A (p.Gly135Arg) |
single nucleotide variant |
not specified [RCV004177315] |
Chr12:120303964 [GRCh38] Chr12:120741767 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.908G>A (p.Arg303His) |
single nucleotide variant |
not specified [RCV004090944] |
Chr12:120312999 [GRCh38] Chr12:120750802 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.251G>T (p.Arg84Leu) |
single nucleotide variant |
not specified [RCV004110868] |
Chr12:120303812 [GRCh38] Chr12:120741615 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.305G>A (p.Arg102His) |
single nucleotide variant |
not specified [RCV004233170] |
Chr12:120303866 [GRCh38] Chr12:120741669 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.619C>G (p.Leu207Val) |
single nucleotide variant |
not specified [RCV004181814] |
Chr12:120312577 [GRCh38] Chr12:120750380 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.320C>T (p.Ala107Val) |
single nucleotide variant |
not specified [RCV004207284] |
Chr12:120303881 [GRCh38] Chr12:120741684 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.835A>C (p.Lys279Gln) |
single nucleotide variant |
not specified [RCV004199746] |
Chr12:120312926 [GRCh38] Chr12:120750729 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.863G>C (p.Gly288Ala) |
single nucleotide variant |
not specified [RCV004164509] |
Chr12:120312954 [GRCh38] Chr12:120750757 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.524A>C (p.Gln175Pro) |
single nucleotide variant |
not specified [RCV004241922] |
Chr12:120312482 [GRCh38] Chr12:120750285 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.491T>A (p.Met164Lys) |
single nucleotide variant |
not specified [RCV004145291] |
Chr12:120304052 [GRCh38] Chr12:120741855 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.394G>A (p.Glu132Lys) |
single nucleotide variant |
not specified [RCV004087768] |
Chr12:120303955 [GRCh38] Chr12:120741758 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.455C>T (p.Ala152Val) |
single nucleotide variant |
not specified [RCV004074560] |
Chr12:120304016 [GRCh38] Chr12:120741819 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.690T>G (p.Asp230Glu) |
single nucleotide variant |
not specified [RCV004287054] |
Chr12:120312648 [GRCh38] Chr12:120750451 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.464G>A (p.Arg155Gln) |
single nucleotide variant |
not specified [RCV004252276] |
Chr12:120304025 [GRCh38] Chr12:120741828 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012240.3(SIRT4):c.550C>T (p.Arg184Cys) |
single nucleotide variant |
not specified [RCV004251894] |
Chr12:120312508 [GRCh38] Chr12:120750311 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.206C>T (p.Ser69Leu) |
single nucleotide variant |
not specified [RCV004349263] |
Chr12:120303767 [GRCh38] Chr12:120741570 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.613G>A (p.Val205Ile) |
single nucleotide variant |
not provided [RCV003392082] |
Chr12:120312571 [GRCh38] Chr12:120750374 [GRCh37] Chr12:12q24.31 |
likely benign |
NR_003137.3(RNU4-2):n.64_65insT |
insertion |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004596615]|RNU4-2-associated neurodevelopmental disorder [RCV003994802]|RNU4-2-related condition [RCV004759364]|not provided [RCV004573450] |
Chr12:120291839..120291840 [GRCh38] Chr12:120729642..120729643 [GRCh37] Chr12:12q24.23 |
pathogenic|likely pathogenic |
NM_012240.3(SIRT4):c.845T>C (p.Ile282Thr) |
single nucleotide variant |
not specified [RCV004455935] |
Chr12:120312936 [GRCh38] Chr12:120750739 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.514T>G (p.Cys172Gly) |
single nucleotide variant |
not specified [RCV004455933] |
Chr12:120312472 [GRCh38] Chr12:120750275 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.907C>T (p.Arg303Cys) |
single nucleotide variant |
not specified [RCV004455936] |
Chr12:120312998 [GRCh38] Chr12:120750801 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.63C>G (p.Ser21Arg) |
single nucleotide variant |
not specified [RCV004455934] |
Chr12:120303624 [GRCh38] Chr12:120741427 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.86T>C (p.Ile29Thr) |
single nucleotide variant |
not specified [RCV004669941] |
Chr12:120303647 [GRCh38] Chr12:120741450 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012240.3(SIRT4):c.760G>A (p.Asp254Asn) |
single nucleotide variant |
not specified [RCV004676453] |
Chr12:120312718 [GRCh38] Chr12:120750521 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.11:g.(?_120270555)_(124242579_?)dup |
duplication |
Deficiency of butyryl-CoA dehydrogenase [RCV004578383] |
Chr12:120270555..124242579 [GRCh37] Chr12:12q24.23-24.31 |
uncertain significance |
NR_003137.3(RNU4-2):n.26G>A |
single nucleotide variant |
not provided [RCV004727549] |
Chr12:120291878 [GRCh38] Chr12:120729681 [GRCh37] Chr12:12q24.23 |
uncertain significance |
NR_003925.1(RNU4-1):n.96T>G |
single nucleotide variant |
RNU4-1-associated neurodevelopmental disorder [RCV004764406] |
Chr12:120293142 [GRCh38] Chr12:120730945 [GRCh37] Chr12:12q24.23 |
uncertain significance |
NM_012240.3(SIRT4):c.457G>T (p.Gly153Trp) |
single nucleotide variant |
not specified [RCV004864354] |
Chr12:120304018 [GRCh38] Chr12:120741821 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.656C>A (p.Thr219Asn) |
single nucleotide variant |
not specified [RCV004864355] |
Chr12:120312614 [GRCh38] Chr12:120750417 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.871C>T (p.Arg291Trp) |
single nucleotide variant |
not specified [RCV004864356] |
Chr12:120312962 [GRCh38] Chr12:120750765 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.742A>G (p.Lys248Glu) |
single nucleotide variant |
not specified [RCV004864352] |
Chr12:120312700 [GRCh38] Chr12:120750503 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012240.3(SIRT4):c.773T>C (p.Val258Ala) |
single nucleotide variant |
not specified [RCV004864353] |
Chr12:120312731 [GRCh38] Chr12:120750534 [GRCh37] Chr12:12q24.31 |
uncertain significance |