| GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] |
Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3 |
pathogenic |
| GRCh38/hg38 1p21.3-13.3(chr1:98557000-107949047)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|See cases [RCV000053878] |
Chr1:98557000..107949047 [GRCh38]
Chr1:99022556..108491669 [GRCh37]
Chr1:98795144..108293192 [NCBI36]
Chr1:1p21.3-13.3 |
pathogenic |
| GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 |
copy number loss |
See cases [RCV000053877] |
Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3 |
pathogenic |
| NM_194292.2(SASS6):c.1623C>T (p.Phe541=) |
single nucleotide variant |
Malignant melanoma [RCV000063984] |
Chr1:100103006 [GRCh38]
Chr1:100568562 [GRCh37]
Chr1:100341150 [NCBI36]
Chr1:1p21.2 |
not provided |
| NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV000172831] |
Chr1:100123231 [GRCh38]
Chr1:100588787 [GRCh37]
Chr1:1p21.2 |
pathogenic |
| GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 |
copy number loss |
See cases [RCV000135333] |
Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3 |
pathogenic |
| GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 |
copy number gain |
See cases [RCV000135654] |
Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1 |
pathogenic |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_194292.3(SASS6):c.1036G>T (p.Asp346Tyr) |
single nucleotide variant |
not provided [RCV000443694] |
Chr1:100107830 [GRCh38]
Chr1:100573386 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1571C>G (p.Thr524Ser) |
single nucleotide variant |
not specified [RCV000503864] |
Chr1:100103058 [GRCh38]
Chr1:100568614 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003343872]|SASS6-related condition [RCV003935311]|not provided [RCV000898508]|not specified [RCV000500503] |
Chr1:100125922 [GRCh38]
Chr1:100591478 [GRCh37]
Chr1:1p21.2 |
benign|likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_194292.3(SASS6):c.41T>C (p.Val14Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV000623389] |
Chr1:100132774 [GRCh38]
Chr1:100598330 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 |
copy number gain |
See cases [RCV000512354] |
Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2 |
pathogenic |
| NM_194292.3(SASS6):c.1186dup (p.Thr396fs) |
duplication |
Inborn genetic diseases [RCV000622270] |
Chr1:100107513..100107514 [GRCh38]
Chr1:100573069..100573070 [GRCh37]
Chr1:1p21.2 |
pathogenic|likely pathogenic |
| NM_194292.3(SASS6):c.1326+47G>C |
single nucleotide variant |
not provided [RCV001539711] |
Chr1:100107327 [GRCh38]
Chr1:100572883 [GRCh37]
Chr1:1p21.2 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p21.2(chr1:100443462-100693294)x3 |
copy number gain |
not provided [RCV000736589] |
Chr1:100443462..100693294 [GRCh37]
Chr1:1p21.2 |
benign |
| GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 |
copy number gain |
not provided [RCV000749068] |
Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3 |
pathogenic |
| GRCh37/hg19 1p21.2(chr1:100506415-100623922)x1 |
copy number loss |
not provided [RCV000749075] |
Chr1:100506415..100623922 [GRCh37]
Chr1:1p21.2 |
benign |
| GRCh37/hg19 1p21.2(chr1:100523464-100587146)x3 |
copy number gain |
not provided [RCV000749076] |
Chr1:100523464..100587146 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1546-120G>C |
single nucleotide variant |
not provided [RCV001612633] |
Chr1:100103203 [GRCh38]
Chr1:100568759 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.206+192A>G |
single nucleotide variant |
not provided [RCV001613559] |
Chr1:100123018 [GRCh38]
Chr1:100588574 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.921T>C (p.Asp307=) |
single nucleotide variant |
not provided [RCV000883804] |
Chr1:100107945 [GRCh38]
Chr1:100573501 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1408+7A>G |
single nucleotide variant |
not provided [RCV000904426] |
Chr1:100106905 [GRCh38]
Chr1:100572461 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1921G>A (p.Ala641Thr) |
single nucleotide variant |
not provided [RCV000924222] |
Chr1:100085381 [GRCh38]
Chr1:100550937 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.779C>T (p.Ala260Val) |
single nucleotide variant |
not provided [RCV000893542] |
Chr1:100110374 [GRCh38]
Chr1:100575930 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.768G>C (p.Glu256Asp) |
single nucleotide variant |
not provided [RCV000906557] |
Chr1:100110385 [GRCh38]
Chr1:100575941 [GRCh37]
Chr1:1p21.2 |
likely benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_194292.3(SASS6):c.1674+3A>G |
single nucleotide variant |
not provided [RCV000901187] |
Chr1:100102952 [GRCh38]
Chr1:100568508 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.768G>A (p.Glu256=) |
single nucleotide variant |
not provided [RCV000916595] |
Chr1:100110385 [GRCh38]
Chr1:100575941 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.873G>C (p.Arg291=) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003344122]|not provided [RCV000893326]|not specified [RCV001818682] |
Chr1:100107993 [GRCh38]
Chr1:100573549 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1057-5A>G |
single nucleotide variant |
not provided [RCV000897819] |
Chr1:100107722 [GRCh38]
Chr1:100573278 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.735A>G (p.Gln245=) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003346232]|not provided [RCV000963056]|not specified [RCV001819046] |
Chr1:100110418 [GRCh38]
Chr1:100575974 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1057-7A>G |
single nucleotide variant |
not provided [RCV000918781] |
Chr1:100107724 [GRCh38]
Chr1:100573280 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1935G>A (p.Ala645=) |
single nucleotide variant |
not provided [RCV000894102] |
Chr1:100085367 [GRCh38]
Chr1:100550923 [GRCh37]
Chr1:1p21.2 |
benign |
| NC_000001.10:g.(?_100316599)_(101709564_?)dup |
duplication |
Maple syrup urine disease [RCV003107553] |
Chr1:100316599..101709564 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.861+232C>T |
single nucleotide variant |
not provided [RCV001695720] |
Chr1:100110060 [GRCh38]
Chr1:100575616 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1409-249A>G |
single nucleotide variant |
not provided [RCV001660948] |
Chr1:100106152 [GRCh38]
Chr1:100571708 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1545+315C>T |
single nucleotide variant |
not provided [RCV001639293] |
Chr1:100105452 [GRCh38]
Chr1:100571008 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.483+229A>G |
single nucleotide variant |
not provided [RCV001621382] |
Chr1:100121149 [GRCh38]
Chr1:100586705 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.65+7T>C |
single nucleotide variant |
not provided [RCV001687541] |
Chr1:100132743 [GRCh38]
Chr1:100598299 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.549+21T>C |
single nucleotide variant |
not provided [RCV001640028] |
Chr1:100120373 [GRCh38]
Chr1:100585929 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.862-305A>T |
single nucleotide variant |
not provided [RCV001595718] |
Chr1:100108309 [GRCh38]
Chr1:100573865 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.369A>G (p.Leu123=) |
single nucleotide variant |
not provided [RCV000892011] |
Chr1:100121492 [GRCh38]
Chr1:100587048 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.918A>G (p.Leu306=) |
single nucleotide variant |
not provided [RCV000975452] |
Chr1:100107948 [GRCh38]
Chr1:100573504 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1835G>A (p.Arg612His) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003346207]|not provided [RCV000909822]|not specified [RCV001818822] |
Chr1:100085568 [GRCh38]
Chr1:100551124 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1692G>A (p.Gln564=) |
single nucleotide variant |
not provided [RCV000979655] |
Chr1:100088219 [GRCh38]
Chr1:100553775 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.600G>A (p.Ala200=) |
single nucleotide variant |
not provided [RCV000884382] |
Chr1:100119087 [GRCh38]
Chr1:100584643 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1773-4T>G |
single nucleotide variant |
not provided [RCV000935019]|not specified [RCV001818907] |
Chr1:100085634 [GRCh38]
Chr1:100551190 [GRCh37]
Chr1:1p21.2 |
likely benign|uncertain significance |
| NM_194292.3(SASS6):c.312-4A>C |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003346209]|not provided [RCV000913978]|not specified [RCV001818847] |
Chr1:100121553 [GRCh38]
Chr1:100587109 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.862-9C>T |
single nucleotide variant |
not provided [RCV000891045] |
Chr1:100108013 [GRCh38]
Chr1:100573569 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1057-6_1057-2del |
deletion |
Inborn genetic diseases [RCV002571380]|Microcephaly 14, primary, autosomal recessive [RCV002465006] |
Chr1:100107719..100107723 [GRCh38]
Chr1:100573275..100573279 [GRCh37]
Chr1:1p21.2 |
likely pathogenic|uncertain significance |
| NM_194292.3(SASS6):c.669+258_669+259del |
microsatellite |
not provided [RCV001620968] |
Chr1:100118759..100118760 [GRCh38]
Chr1:100584315..100584316 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_019083.3(TRMT13):c.143C>T (p.Ala48Val) |
single nucleotide variant |
not provided [RCV001722844] |
Chr1:100133311 [GRCh38]
Chr1:100598867 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1408+9G>A |
single nucleotide variant |
not provided [RCV001638764] |
Chr1:100106903 [GRCh38]
Chr1:100572459 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1674+279del |
deletion |
not provided [RCV001638849] |
Chr1:100102676 [GRCh38]
Chr1:100568232 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.312-145T>G |
single nucleotide variant |
not provided [RCV001719269] |
Chr1:100121694 [GRCh38]
Chr1:100587250 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.312-41A>G |
single nucleotide variant |
not provided [RCV001642019] |
Chr1:100121590 [GRCh38]
Chr1:100587146 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.207-86dup |
duplication |
not provided [RCV001677647] |
Chr1:100122549..100122550 [GRCh38]
Chr1:100588105..100588106 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.-69C>G |
single nucleotide variant |
not provided [RCV001617373] |
Chr1:100132883 [GRCh38]
Chr1:100598439 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.933C>T (p.His311=) |
single nucleotide variant |
SASS6-related condition [RCV003976095]|not provided [RCV001721798] |
Chr1:100107933 [GRCh38]
Chr1:100573489 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.484-117G>C |
single nucleotide variant |
not provided [RCV001721810] |
Chr1:100120576 [GRCh38]
Chr1:100586132 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.126+212del |
deletion |
not provided [RCV001656512] |
Chr1:100125670 [GRCh38]
Chr1:100591226 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_019083.3(TRMT13):c.142G>A (p.Ala48Thr) |
single nucleotide variant |
not provided [RCV001617285] |
Chr1:100133310 [GRCh38]
Chr1:100598866 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.549+279G>A |
single nucleotide variant |
not provided [RCV001658730] |
Chr1:100120115 [GRCh38]
Chr1:100585671 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1057-37A>C |
single nucleotide variant |
not provided [RCV001680362] |
Chr1:100107754 [GRCh38]
Chr1:100573310 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.861+169A>G |
single nucleotide variant |
not provided [RCV001667941] |
Chr1:100110123 [GRCh38]
Chr1:100575679 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1674+261_1674+262dup |
duplication |
not provided [RCV001684494] |
Chr1:100102675..100102676 [GRCh38]
Chr1:100568231..100568232 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.776C>T (p.Ala259Val) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV001796680]|not provided [RCV001672294] |
Chr1:100110377 [GRCh38]
Chr1:100575933 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1674+261dup |
duplication |
not provided [RCV001681601] |
Chr1:100102675..100102676 [GRCh38]
Chr1:100568231..100568232 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.549+232C>T |
single nucleotide variant |
not provided [RCV001670024] |
Chr1:100120162 [GRCh38]
Chr1:100585718 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.1867+2T>A |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV001255653] |
Chr1:100085534 [GRCh38]
Chr1:100551090 [GRCh37]
Chr1:1p21.2 |
pathogenic |
| NM_194292.3(SASS6):c.127-13A>G |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV001255652] |
Chr1:100123302 [GRCh38]
Chr1:100588858 [GRCh37]
Chr1:1p21.2 |
pathogenic|likely pathogenic |
| NM_194292.3(SASS6):c.170dup (p.Leu57fs) |
duplication |
not provided [RCV001254968] |
Chr1:100123245..100123246 [GRCh38]
Chr1:100588801..100588802 [GRCh37]
Chr1:1p21.2 |
likely pathogenic |
| NM_194292.3(SASS6):c.1773-255T>C |
single nucleotide variant |
not provided [RCV001670961] |
Chr1:100085885 [GRCh38]
Chr1:100551441 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.550-53T>G |
single nucleotide variant |
not provided [RCV001694929] |
Chr1:100119190 [GRCh38]
Chr1:100584746 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.206+232dup |
duplication |
not provided [RCV001648978] |
Chr1:100122970..100122971 [GRCh38]
Chr1:100588526..100588527 [GRCh37]
Chr1:1p21.2 |
benign |
| NM_194292.3(SASS6):c.207-86_207-85dup |
duplication |
not provided [RCV001674387] |
Chr1:100122549..100122550 [GRCh38]
Chr1:100588105..100588106 [GRCh37]
Chr1:1p21.2 |
benign |
| GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1 |
copy number loss |
not provided [RCV001834415] |
Chr1:100215607..105368230 [GRCh37]
Chr1:1p21.2-21.1 |
uncertain significance |
| GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) |
copy number loss |
not specified [RCV002053503] |
Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2 |
pathogenic |
| NM_194292.3(SASS6):c.134T>A (p.Val45Asp) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV002226850] |
Chr1:100123282 [GRCh38]
Chr1:100588838 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.497C>A (p.Ser166Ter) |
single nucleotide variant |
Microcephaly 14, primary, autosomal recessive [RCV003236350] |
Chr1:100120446 [GRCh38]
Chr1:100586002 [GRCh37]
Chr1:1p21.2 |
likely pathogenic |
| NM_194292.3(SASS6):c.778G>A (p.Ala260Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002684114] |
Chr1:100110375 [GRCh38]
Chr1:100575931 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1543G>A (p.Val515Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002685077] |
Chr1:100105769 [GRCh38]
Chr1:100571325 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1486C>A (p.Pro496Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002683387] |
Chr1:100105826 [GRCh38]
Chr1:100571382 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.921T>G (p.Asp307Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002731923] |
Chr1:100107945 [GRCh38]
Chr1:100573501 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.560A>G (p.Glu187Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002974508]|not provided [RCV003410217] |
Chr1:100119127 [GRCh38]
Chr1:100584683 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.1834C>T (p.Arg612Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002774561] |
Chr1:100085569 [GRCh38]
Chr1:100551125 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.862-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002793391]|SASS6-related condition [RCV003946368] |
Chr1:100108009 [GRCh38]
Chr1:100573565 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.838G>A (p.Ala280Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002759742] |
Chr1:100110315 [GRCh38]
Chr1:100575871 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1874A>C (p.Gln625Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002925117] |
Chr1:100085428 [GRCh38]
Chr1:100550984 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.587G>A (p.Arg196Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003001155] |
Chr1:100119100 [GRCh38]
Chr1:100584656 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.350A>G (p.Asp117Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002965604] |
Chr1:100121511 [GRCh38]
Chr1:100587067 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.20A>G (p.His7Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878286] |
Chr1:100132795 [GRCh38]
Chr1:100598351 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1667G>A (p.Gly556Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002719303] |
Chr1:100102962 [GRCh38]
Chr1:100568518 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.512T>C (p.Leu171Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002719431] |
Chr1:100120431 [GRCh38]
Chr1:100585987 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.728A>G (p.His243Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002719860] |
Chr1:100110425 [GRCh38]
Chr1:100575981 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1504A>T (p.Ser502Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002792175] |
Chr1:100105808 [GRCh38]
Chr1:100571364 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.872G>A (p.Arg291Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002679776] |
Chr1:100107994 [GRCh38]
Chr1:100573550 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.170del (p.Leu57fs) |
deletion |
Microcephaly 14, primary, autosomal recessive [RCV003229496] |
Chr1:100123246 [GRCh38]
Chr1:100588802 [GRCh37]
Chr1:1p21.2 |
likely pathogenic |
| NM_194292.3(SASS6):c.1783G>A (p.Val595Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003385681] |
Chr1:100085620 [GRCh38]
Chr1:100551176 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1283A>G (p.Glu428Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003369090] |
Chr1:100107417 [GRCh38]
Chr1:100572973 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1 |
copy number loss |
not provided [RCV003483238] |
Chr1:100146136..106580074 [GRCh37]
Chr1:1p21.2-21.1 |
uncertain significance |
| NM_194292.3(SASS6):c.763_766del (p.Ser255_Glu256insTer) |
deletion |
not provided [RCV003443424] |
Chr1:100110387..100110390 [GRCh38]
Chr1:100575943..100575946 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.795C>T (p.Thr265=) |
single nucleotide variant |
SASS6-related condition [RCV003954331] |
Chr1:100110358 [GRCh38]
Chr1:100575914 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.213A>G (p.Lys71=) |
single nucleotide variant |
SASS6-related condition [RCV003966807] |
Chr1:100122478 [GRCh38]
Chr1:100588034 [GRCh37]
Chr1:1p21.2 |
likely benign |
| NM_194292.3(SASS6):c.662C>G (p.Ala221Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004450236] |
Chr1:100119025 [GRCh38]
Chr1:100584581 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.796G>A (p.Glu266Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004450237] |
Chr1:100110357 [GRCh38]
Chr1:100575913 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.586C>T (p.Arg196Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004450234] |
Chr1:100119101 [GRCh38]
Chr1:100584657 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.598G>A (p.Ala200Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004450235] |
Chr1:100119089 [GRCh38]
Chr1:100584645 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1141C>G (p.Leu381Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004450232] |
Chr1:100107633 [GRCh38]
Chr1:100573189 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.1729T>G (p.Ser577Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004450233] |
Chr1:100088182 [GRCh38]
Chr1:100553738 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
| NM_194292.3(SASS6):c.937A>G (p.Lys313Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004450238] |
Chr1:100107929 [GRCh38]
Chr1:100573485 [GRCh37]
Chr1:1p21.2 |
uncertain significance |
