| 150483852 | CV1222370 | single nucleotide variant | NM_194292.3(SASS6):c.-69C>G | not provided [RCV001617373] | benign | 1 | 100132883 | 100132883 | Human | | name |
| 150489875 | CV1267517 | single nucleotide variant | NM_194292.3(SASS6):c.65+7T>C | not provided [RCV001687541] | benign | 1 | 100132743 | 100132743 | Human | | name |
| 155987552 | CV2259479 | single nucleotide variant | NM_194292.3(SASS6):c.862-5T>C | Inborn genetic diseases [RCV002793391]|SASS6-related disorder [RCV003946368] | likely benign | 1 | 100108009 | 100108009 | Human | 2 | name , trait , alternate_id |
| 598129658 | CV3887077 | single nucleotide variant | NM_194292.3(SASS6):c.670-4A>G | not provided [RCV005245137] | likely benign | 1 | 100110487 | 100110487 | Human | | name |
| 15200915 | CV729897 | single nucleotide variant | NM_194292.3(SASS6):c.862-9C>T | not provided [RCV000891045] | likely benign | 1 | 100108013 | 100108013 | Human | | name |
| 15203426 | CV758793 | single nucleotide variant | NM_194292.3(SASS6):c.312-4A>C | Microcephaly 14, primary, autosomal recessive [RCV003346209]|not provided [RCV000913978]|not specified [RCV001818847] | benign | 1 | 100121553 | 100121553 | Human | 1 | name |
| 150517482 | CV1226932 | single nucleotide variant | NM_194292.3(SASS6):c.549+21T>C | not provided [RCV001640028] | benign | 1 | 100120373 | 100120373 | Human | | name |
| 150515237 | CV1227491 | single nucleotide variant | NM_194292.3(SASS6):c.1408+9G>A | not provided [RCV001638764] | benign | 1 | 100106903 | 100106903 | Human | | name |
| 150432002 | CV1236615 | single nucleotide variant | NM_194292.3(SASS6):c.312-41A>G | not provided [RCV001642019] | benign | 1 | 100121590 | 100121590 | Human | | name |
| 150504246 | CV1257958 | duplication | NM_194292.3(SASS6):c.207-86dup | not provided [RCV001677647] | benign | 1 | 100122549 | 100122550 | Human | | name |
| 150469256 | CV1268066 | single nucleotide variant | NM_194292.3(SASS6):c.550-53T>G | not provided [RCV001694929] | benign | 1 | 100119190 | 100119190 | Human | | name |
| 15131688 | CV743636 | single nucleotide variant | NM_194292.3(SASS6):c.1057-5A>G | not provided [RCV000897819] | likely benign | 1 | 100107722 | 100107722 | Human | | name |
| 15150591 | CV743637 | single nucleotide variant | NM_194292.3(SASS6):c.1674+3A>G | not provided [RCV000901187] | likely benign | 1 | 100102952 | 100102952 | Human | | name |
| 15166361 | CV743644 | single nucleotide variant | NM_194292.3(SASS6):c.1408+7A>G | not provided [RCV000904426] | benign | 1 | 100106905 | 100106905 | Human | | name |
| 15123217 | CV758788 | single nucleotide variant | NM_194292.3(SASS6):c.1057-7A>G | not provided [RCV000918781] | likely benign | 1 | 100107724 | 100107724 | Human | | name |
| 15199148 | CV774351 | single nucleotide variant | NM_194292.3(SASS6):c.1773-4T>G | not provided [RCV000935019]|not specified [RCV001818907] | likely benign|uncertain significance | 1 | 100085634 | 100085634 | Human | | name |
| 39456621 | CV965904 | single nucleotide variant | NM_194292.3(SASS6):c.127-13A>G | Microcephaly 14, primary, autosomal recessive [RCV001255652] | pathogenic|likely pathogenic | 1 | 100123302 | 100123302 | Human | 1 | name |
| 39456622 | CV965905 | single nucleotide variant | NM_194292.3(SASS6):c.1867+2T>A | Microcephaly 14, primary, autosomal recessive [RCV001255653] | pathogenic | 1 | 100085534 | 100085534 | Human | 1 | name |
| 150333949 | CV1170526 | single nucleotide variant | NM_194292.3(SASS6):c.1326+47G>C | not provided [RCV001539711] | benign | 1 | 100107327 | 100107327 | Human | | name |
| 150505166 | CV1213462 | single nucleotide variant | NM_194292.3(SASS6):c.862-305A>T | not provided [RCV001595718] | benign | 1 | 100108309 | 100108309 | Human | | name |
| 150461870 | CV1214566 | single nucleotide variant | NM_194292.3(SASS6):c.206+192A>G | not provided [RCV001613559] | benign | 1 | 100123018 | 100123018 | Human | | name |
| 150503357 | CV1223733 | single nucleotide variant | NM_194292.3(SASS6):c.483+229A>G | not provided [RCV001621382] | benign | 1 | 100121149 | 100121149 | Human | | name |
| 150499973 | CV1235829 | deletion | NM_194292.3(SASS6):c.126+212del | not provided [RCV001656512] | benign | 1 | 100125670 | 100125670 | Human | | name |
| 150458918 | CV1236007 | duplication | NM_194292.3(SASS6):c.206+232dup | not provided [RCV001648978] | benign | 1 | 100122970 | 100122971 | Human | | name |
| 150507098 | CV1242375 | single nucleotide variant | NM_194292.3(SASS6):c.549+279G>A | not provided [RCV001658730] | benign | 1 | 100120115 | 100120115 | Human | | name |
| 150464504 | CV1252700 | single nucleotide variant | NM_194292.3(SASS6):c.549+232C>T | not provided [RCV001670024] | benign | 1 | 100120162 | 100120162 | Human | | name |
| 150451860 | CV1254882 | single nucleotide variant | NM_194292.3(SASS6):c.861+169A>G | not provided [RCV001667941] | benign | 1 | 100110123 | 100110123 | Human | | name |
| 150448496 | CV1260694 | single nucleotide variant | NM_194292.3(SASS6):c.1057-37A>C | not provided [RCV001680362] | benign | 1 | 100107754 | 100107754 | Human | | name |
| 150473507 | CV1272182 | single nucleotide variant | NM_194292.3(SASS6):c.861+232C>T | not provided [RCV001695720] | benign | 1 | 100110060 | 100110060 | Human | | name |
| 150512480 | CV1284941 | single nucleotide variant | NM_194292.3(SASS6):c.484-117G>C | not provided [RCV001721810] | benign | 1 | 100120576 | 100120576 | Human | | name |
| 150503883 | CV1285846 | single nucleotide variant | NM_194292.3(SASS6):c.312-145T>G | not provided [RCV001719269] | benign | 1 | 100121694 | 100121694 | Human | | name |
| 150455981 | CV1220540 | single nucleotide variant | NM_194292.3(SASS6):c.1546-120G>C | not provided [RCV001612633] | benign | 1 | 100103203 | 100103203 | Human | | name |
| 150516697 | CV1227195 | single nucleotide variant | NM_194292.3(SASS6):c.1545+315C>T | not provided [RCV001639293] | benign | 1 | 100105452 | 100105452 | Human | | name |
| 150515493 | CV1227575 | deletion | NM_194292.3(SASS6):c.1674+279del | not provided [RCV001638849] | benign | 1 | 100102676 | 100102676 | Human | | name |
| 150511072 | CV1242596 | single nucleotide variant | NM_194292.3(SASS6):c.1409-249A>G | not provided [RCV001660948] | benign | 1 | 100106152 | 100106152 | Human | | name |
| 150470061 | CV1247925 | single nucleotide variant | NM_194292.3(SASS6):c.1773-255T>C | not provided [RCV001670961] | benign | 1 | 100085885 | 100085885 | Human | | name |
| 150457316 | CV1260121 | duplication | NM_194292.3(SASS6):c.1674+261dup | not provided [RCV001681601] | benign | 1 | 100102675 | 100102676 | Human | | name |
| 150488730 | CV1250427 | duplication | NM_194292.3(SASS6):c.207-86_207-85dup | not provided [RCV001674387] | benign | 1 | 100122549 | 100122550 | Human | | name |
| 155797500 | CV1859379 | deletion | NM_194292.3(SASS6):c.1057-6_1057-2del | Inborn genetic diseases [RCV002571380]|Microcephaly 14, primary, autosomal recessive [RCV002465006] | likely pathogenic|uncertain significance | 1 | 100107719 | 100107723 | Human | 2 | name |
| 156282421 | CV2288822 | single nucleotide variant | NM_194292.3(SASS6):c.20A>G (p.His7Arg) | Inborn genetic diseases [RCV002878286] | uncertain significance | 1 | 100132795 | 100132795 | Human | 1 | name |
| 405293218 | CV3221284 | single nucleotide variant | NM_194292.3(SASS6):c.213A>G (p.Lys71=) | SASS6-related disorder [RCV003966807] | likely benign | 1 | 100122478 | 100122478 | Human | | name , trait , alternate_id |
| 150501907 | CV1224327 | microsatellite | NM_194292.3(SASS6):c.669+258_669+259del | not provided [RCV001620968] | benign | 1 | 100118759 | 100118760 | Human | | name |
| 150512405 | CV1284929 | single nucleotide variant | NM_194292.3(SASS6):c.933C>T (p.His311=) | SASS6-related disorder [RCV003976095]|not provided [RCV001721798] | benign | 1 | 100107933 | 100107933 | Human | 1 | name , trait , alternate_id |
| 329848309 | CV2667941 | deletion | NM_194292.3(SASS6):c.170del (p.Leu57fs) | Microcephaly 14, primary, autosomal recessive [RCV003229496] | pathogenic|likely pathogenic | 1 | 100123246 | 100123246 | Human | 1 | name |
| 405278066 | CV3216376 | single nucleotide variant | NM_194292.3(SASS6):c.795C>T (p.Thr265=) | SASS6-related disorder [RCV003954331] | likely benign | 1 | 100110358 | 100110358 | Human | | name , trait , alternate_id |
| 13213836 | CV427603 | single nucleotide variant | NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) | Microcephaly 14, primary, autosomal recessive [RCV003343872]|SASS6-related disorder [RCV003935311]|not provided [RCV000898508]|not specified [RCV000500503] | benign|likely benign | 1 | 100125922 | 100125922 | Human | 1 | name , trait , alternate_id |
| 13531507 | CV511148 | single nucleotide variant | NM_194292.3(SASS6):c.41T>C (p.Val14Ala) | Inborn genetic diseases [RCV000623389] | uncertain significance | 1 | 100132774 | 100132774 | Human | 1 | name |
| 15122337 | CV706514 | single nucleotide variant | NM_194292.3(SASS6):c.735A>G (p.Gln245=) | Microcephaly 14, primary, autosomal recessive [RCV003346232]|not provided [RCV000963056]|not specified [RCV001819046] | benign | 1 | 100110418 | 100110418 | Human | 1 | name |
| 15172248 | CV718032 | single nucleotide variant | NM_194292.3(SASS6):c.921T>C (p.Asp307=) | not provided [RCV000883804] | likely benign | 1 | 100107945 | 100107945 | Human | | name |
| 15106661 | CV718033 | single nucleotide variant | NM_194292.3(SASS6):c.873G>C (p.Arg291=) | Microcephaly 14, primary, autosomal recessive [RCV003344122]|not provided [RCV000893326]|not specified [RCV001818682] | likely benign | 1 | 100107993 | 100107993 | Human | 1 | name |
| 15175501 | CV718035 | single nucleotide variant | NM_194292.3(SASS6):c.600G>A (p.Ala200=) | not provided [RCV000884382] | benign | 1 | 100119087 | 100119087 | Human | | name |
| 15099857 | CV718036 | single nucleotide variant | NM_194292.3(SASS6):c.369A>G (p.Leu123=) | not provided [RCV000892011] | benign | 1 | 100121492 | 100121492 | Human | | name |
| 15110746 | CV745487 | single nucleotide variant | NM_194292.3(SASS6):c.768G>A (p.Glu256=) | not provided [RCV000916595] | likely benign | 1 | 100110385 | 100110385 | Human | | name |
| 15100704 | CV780241 | single nucleotide variant | NM_194292.3(SASS6):c.918A>G (p.Leu306=) | not provided [RCV000975452] | likely benign | 1 | 100107948 | 100107948 | Human | | name |
| 39456385 | CV965457 | duplication | NM_194292.3(SASS6):c.170dup (p.Leu57fs) | Microcephaly 14, primary, autosomal recessive [RCV004799267] | likely pathogenic | 1 | 100123245 | 100123246 | Human | 1 | name |
| 152977822 | CV1671176 | single nucleotide variant | NM_194292.3(SASS6):c.134T>A (p.Val45Asp) | Microcephaly 14, primary, autosomal recessive [RCV002226850] | uncertain significance | 1 | 100123282 | 100123282 | Human | 1 | name |
| 10046743 | CV190032 | single nucleotide variant | NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) | Microcephaly 14, primary, autosomal recessive [RCV000172831] | pathogenic | 1 | 100123231 | 100123231 | Human | 1 | name |
| 407460636 | CV3483676 | single nucleotide variant | NM_194292.3(SASS6):c.295G>A (p.Ala99Thr) | Inborn genetic diseases [RCV004658503] | likely benign | 1 | 100122396 | 100122396 | Human | 1 | name |
| 407460642 | CV3483678 | single nucleotide variant | NM_194292.3(SASS6):c.115G>A (p.Val39Ile) | Inborn genetic diseases [RCV004658505] | uncertain significance | 1 | 100125893 | 100125893 | Human | 1 | name |
| 597695631 | CV3605116 | single nucleotide variant | NM_194292.3(SASS6):c.214T>A (p.Phe72Ile) | Inborn genetic diseases [RCV004954773] | uncertain significance | 1 | 100122477 | 100122477 | Human | 1 | name |
| 597632511 | CV3605125 | single nucleotide variant | NM_194292.3(SASS6):c.155C>T (p.Thr52Met) | Inborn genetic diseases [RCV004968842] | uncertain significance | 1 | 100123261 | 100123261 | Human | 1 | name |
| 15110617 | CV718031 | single nucleotide variant | NM_194292.3(SASS6):c.1935G>A (p.Ala645=) | not provided [RCV000894102] | benign | 1 | 100085367 | 100085367 | Human | | name |
| 15122498 | CV780240 | single nucleotide variant | NM_194292.3(SASS6):c.1692G>A (p.Gln564=) | not provided [RCV000979655] | likely benign | 1 | 100088219 | 100088219 | Human | | name |
| 8628759 | CV83903 | single nucleotide variant | NM_194292.2(SASS6):c.1623C>T (p.Phe541=) | Malignant melanoma [RCV000063984] | not provided | 1 | 100103006 | 100103006 | Human | | name |
| 150477945 | CV1252094 | single nucleotide variant | NM_194292.3(SASS6):c.776C>T (p.Ala259Val) | Microcephaly 14, primary, autosomal recessive [RCV001796680]|not provided [RCV001672294] | benign | 1 | 100110377 | 100110377 | Human | 1 | name |
| 150472166 | CV1259248 | duplication | NM_194292.3(SASS6):c.1674+261_1674+262dup | not provided [RCV001684494] | benign | 1 | 100102675 | 100102676 | Human | | name |
| 155974673 | CV2221165 | single nucleotide variant | NM_194292.3(SASS6):c.921T>G (p.Asp307Glu) | Inborn genetic diseases [RCV002731923] | uncertain significance | 1 | 100107945 | 100107945 | Human | 1 | name |
| 156343618 | CV2232820 | single nucleotide variant | NM_194292.3(SASS6):c.512T>C (p.Leu171Pro) | Inborn genetic diseases [RCV002719431] | uncertain significance | 1 | 100120431 | 100120431 | Human | 1 | name |
| 156343667 | CV2349198 | single nucleotide variant | NM_194292.3(SASS6):c.350A>G (p.Asp117Gly) | Inborn genetic diseases [RCV002965604] | uncertain significance | 1 | 100121511 | 100121511 | Human | 1 | name |
| 156078505 | CV2351119 | single nucleotide variant | NM_194292.3(SASS6):c.587G>A (p.Arg196Gln) | Inborn genetic diseases [RCV003001155] | uncertain significance | 1 | 100119100 | 100119100 | Human | 1 | name |
| 155988817 | CV2355164 | single nucleotide variant | NM_194292.3(SASS6):c.560A>G (p.Glu187Gly) | Inborn genetic diseases [RCV002974508]|not provided [RCV003410217] | likely benign | 1 | 100119127 | 100119127 | Human | 1 | name |
| 155930624 | CV2361201 | single nucleotide variant | NM_194292.3(SASS6):c.778G>A (p.Ala260Thr) | Inborn genetic diseases [RCV002684114] | uncertain significance | 1 | 100110375 | 100110375 | Human | 1 | name |
| 156386023 | CV2364633 | single nucleotide variant | NM_194292.3(SASS6):c.872G>A (p.Arg291Gln) | Inborn genetic diseases [RCV002679776] | uncertain significance | 1 | 100107994 | 100107994 | Human | 1 | name |
| 156347279 | CV2375417 | single nucleotide variant | NM_194292.3(SASS6):c.728A>G (p.His243Arg) | Inborn genetic diseases [RCV002719860] | uncertain significance | 1 | 100110425 | 100110425 | Human | 1 | name |
| 156058094 | CV2396424 | single nucleotide variant | NM_194292.3(SASS6):c.838G>A (p.Ala280Thr) | Inborn genetic diseases [RCV002759742] | uncertain significance | 1 | 100110315 | 100110315 | Human | 1 | name |
| 329955138 | CV2671079 | single nucleotide variant | NM_194292.3(SASS6):c.497C>A (p.Ser166Ter) | Microcephaly 14, primary, autosomal recessive [RCV003236350] | likely pathogenic | 1 | 100120446 | 100120446 | Human | 1 | name |
| 405724274 | CV3320673 | single nucleotide variant | NM_194292.3(SASS6):c.586C>T (p.Arg196Trp) | Inborn genetic diseases [RCV004450234] | uncertain significance | 1 | 100119101 | 100119101 | Human | 1 | name |
| 405724282 | CV3320674 | single nucleotide variant | NM_194292.3(SASS6):c.598G>A (p.Ala200Thr) | Inborn genetic diseases [RCV004450235] | uncertain significance | 1 | 100119089 | 100119089 | Human | 1 | name |
| 405724288 | CV3320675 | single nucleotide variant | NM_194292.3(SASS6):c.662C>G (p.Ala221Gly) | Inborn genetic diseases [RCV004450236] | uncertain significance | 1 | 100119025 | 100119025 | Human | 1 | name |
| 405724297 | CV3320676 | single nucleotide variant | NM_194292.3(SASS6):c.796G>A (p.Glu266Lys) | Inborn genetic diseases [RCV004450237] | uncertain significance | 1 | 100110357 | 100110357 | Human | 1 | name |
| 405724305 | CV3320677 | single nucleotide variant | NM_194292.3(SASS6):c.937A>G (p.Lys313Glu) | Inborn genetic diseases [RCV004450238] | uncertain significance | 1 | 100107929 | 100107929 | Human | 1 | name |
| 407460630 | CV3483674 | single nucleotide variant | NM_194292.3(SASS6):c.460G>A (p.Ala154Thr) | Inborn genetic diseases [RCV004658501] | uncertain significance | 1 | 100121401 | 100121401 | Human | 1 | name |
| 407460633 | CV3483675 | single nucleotide variant | NM_194292.3(SASS6):c.821C>T (p.Thr274Ile) | Inborn genetic diseases [RCV004658502] | uncertain significance | 1 | 100110332 | 100110332 | Human | 1 | name |
| 597695645 | CV3605118 | single nucleotide variant | NM_194292.3(SASS6):c.697G>A (p.Glu233Lys) | Inborn genetic diseases [RCV004954775] | uncertain significance | 1 | 100110456 | 100110456 | Human | 1 | name |
| 597695667 | CV3605121 | single nucleotide variant | NM_194292.3(SASS6):c.949G>A (p.Val317Ile) | Inborn genetic diseases [RCV004954778] | likely benign | 1 | 100107917 | 100107917 | Human | 1 | name |
| 597632808 | CV3605126 | single nucleotide variant | NM_194292.3(SASS6):c.505C>A (p.Gln169Lys) | Inborn genetic diseases [RCV004968843] | uncertain significance | 1 | 100120438 | 100120438 | Human | 1 | name |
| 597695684 | CV3605127 | single nucleotide variant | NM_194292.3(SASS6):c.943A>C (p.Lys315Gln) | Inborn genetic diseases [RCV004954780] | uncertain significance | 1 | 100107923 | 100107923 | Human | 1 | name |
| 597695692 | CV3605128 | single nucleotide variant | NM_194292.3(SASS6):c.808A>G (p.Lys270Glu) | Inborn genetic diseases [RCV004954781] | uncertain significance | 1 | 100110345 | 100110345 | Human | 1 | name |
| 597695705 | CV3605130 | single nucleotide variant | NM_194292.3(SASS6):c.746A>G (p.Gln249Arg) | Inborn genetic diseases [RCV004954783] | uncertain significance | 1 | 100110407 | 100110407 | Human | 1 | name |
| 598194583 | CV3899957 | single nucleotide variant | NM_194292.3(SASS6):c.578A>G (p.Asp193Gly) | Inborn genetic diseases [RCV005267578] | uncertain significance | 1 | 100119109 | 100119109 | Human | 1 | name |
| 598194586 | CV3899958 | single nucleotide variant | NM_194292.3(SASS6):c.475T>G (p.Cys159Gly) | Inborn genetic diseases [RCV005267579] | uncertain significance | 1 | 100121386 | 100121386 | Human | 1 | name |
| 598194602 | CV3899961 | single nucleotide variant | NM_194292.3(SASS6):c.632C>T (p.Ser211Phe) | Inborn genetic diseases [RCV005267582] | uncertain significance | 1 | 100119055 | 100119055 | Human | 1 | name |
| 598194606 | CV3899962 | single nucleotide variant | NM_194292.3(SASS6):c.460G>T (p.Ala154Ser) | Inborn genetic diseases [RCV005267583] | uncertain significance | 1 | 100121401 | 100121401 | Human | 1 | name |
| 13530142 | CV511147 | duplication | NM_194292.3(SASS6):c.1186dup (p.Thr396fs) | Inborn genetic diseases [RCV000622270] | pathogenic|likely pathogenic | 1 | 100107513 | 100107514 | Human | 1 | name |
| 15107750 | CV718034 | single nucleotide variant | NM_194292.3(SASS6):c.779C>T (p.Ala260Val) | not provided [RCV000893542] | likely benign | 1 | 100110374 | 100110374 | Human | | name |
| 15177022 | CV731502 | single nucleotide variant | NM_194292.3(SASS6):c.768G>C (p.Glu256Asp) | not provided [RCV000906557] | likely benign | 1 | 100110385 | 100110385 | Human | | name |
| 155925035 | CV2211707 | single nucleotide variant | NM_194292.3(SASS6):c.1486C>A (p.Pro496Thr) | Inborn genetic diseases [RCV002683387] | likely benign | 1 | 100105826 | 100105826 | Human | 1 | name |
| 156342587 | CV2222338 | single nucleotide variant | NM_194292.3(SASS6):c.1667G>A (p.Gly556Glu) | Inborn genetic diseases [RCV002719303] | uncertain significance | 1 | 100102962 | 100102962 | Human | 1 | name |
| 156265834 | CV2247060 | single nucleotide variant | NM_194292.3(SASS6):c.1504A>T (p.Ser502Cys) | Inborn genetic diseases [RCV002792175] | uncertain significance | 1 | 100105808 | 100105808 | Human | 1 | name |
| 156062177 | CV2320967 | single nucleotide variant | NM_194292.3(SASS6):c.1874A>C (p.Gln625Pro) | Inborn genetic diseases [RCV002925117] | uncertain significance | 1 | 100085428 | 100085428 | Human | 1 | name |
| 155937308 | CV2379996 | single nucleotide variant | NM_194292.3(SASS6):c.1543G>A (p.Val515Met) | Inborn genetic diseases [RCV002685077] | uncertain significance | 1 | 100105769 | 100105769 | Human | 1 | name |
| 155932886 | CV2399230 | single nucleotide variant | NM_194292.3(SASS6):c.1834C>T (p.Arg612Cys) | Inborn genetic diseases [RCV002774561] | uncertain significance | 1 | 100085569 | 100085569 | Human | 1 | name |
| 401890690 | CV2775736 | single nucleotide variant | NM_194292.3(SASS6):c.1283A>G (p.Glu428Gly) | Inborn genetic diseases [RCV003369090] | uncertain significance | 1 | 100107417 | 100107417 | Human | 1 | name |
| 401882348 | CV2793458 | single nucleotide variant | NM_194292.3(SASS6):c.1783G>A (p.Val595Ile) | Inborn genetic diseases [RCV003385681] | uncertain significance | 1 | 100085620 | 100085620 | Human | 1 | name |
| 405724256 | CV3320671 | single nucleotide variant | NM_194292.3(SASS6):c.1141C>G (p.Leu381Val) | Inborn genetic diseases [RCV004450232] | uncertain significance | 1 | 100107633 | 100107633 | Human | 1 | name |
| 405724264 | CV3320672 | single nucleotide variant | NM_194292.3(SASS6):c.1729T>G (p.Ser577Ala) | Inborn genetic diseases [RCV004450233] | uncertain significance | 1 | 100088182 | 100088182 | Human | 1 | name |
| 407514278 | CV3483673 | single nucleotide variant | NM_194292.3(SASS6):c.1487C>T (p.Pro496Leu) | Inborn genetic diseases [RCV004674491] | uncertain significance | 1 | 100105825 | 100105825 | Human | 1 | name |
| 597695639 | CV3605117 | single nucleotide variant | NM_194292.3(SASS6):c.1580T>C (p.Ile527Thr) | Inborn genetic diseases [RCV004954774] | uncertain significance | 1 | 100103049 | 100103049 | Human | 1 | name |
| 597695652 | CV3605119 | single nucleotide variant | NM_194292.3(SASS6):c.1415C>T (p.Thr472Met) | Inborn genetic diseases [RCV004954776] | uncertain significance | 1 | 100105897 | 100105897 | Human | 1 | name |
| 597695661 | CV3605120 | single nucleotide variant | NM_194292.3(SASS6):c.1631C>T (p.Ser544Leu) | Inborn genetic diseases [RCV004954777] | uncertain significance | 1 | 100102998 | 100102998 | Human | 1 | name |
| 597695677 | CV3605123 | single nucleotide variant | NM_194292.3(SASS6):c.1943C>G (p.Ala648Gly) | Inborn genetic diseases [RCV004954779] | uncertain significance | 1 | 100085359 | 100085359 | Human | 1 | name |
| 597632508 | CV3605124 | single nucleotide variant | NM_194292.3(SASS6):c.1688T>C (p.Leu563Ser) | Inborn genetic diseases [RCV004968841] | uncertain significance | 1 | 100088223 | 100088223 | Human | 1 | name |
| 597695698 | CV3605129 | single nucleotide variant | NM_194292.3(SASS6):c.1054A>G (p.Lys352Glu) | Inborn genetic diseases [RCV004954782] | uncertain significance | 1 | 100107812 | 100107812 | Human | 1 | name |
| 12850246 | CV363936 | single nucleotide variant | NM_194292.3(SASS6):c.1036G>T (p.Asp346Tyr) | not provided [RCV000443694] | uncertain significance | 1 | 100107830 | 100107830 | Human | | name |
| 598194591 | CV3899959 | single nucleotide variant | NM_194292.3(SASS6):c.1511C>T (p.Thr504Ile) | Inborn genetic diseases [RCV005267580] | uncertain significance | 1 | 100105801 | 100105801 | Human | 1 | name |
| 598194597 | CV3899960 | single nucleotide variant | NM_194292.3(SASS6):c.1486C>T (p.Pro496Ser) | Inborn genetic diseases [RCV005267581] | uncertain significance | 1 | 100105826 | 100105826 | Human | 1 | name |
| 13216516 | CV427602 | single nucleotide variant | NM_194292.3(SASS6):c.1571C>G (p.Thr524Ser) | not specified [RCV000503864] | uncertain significance | 1 | 100103058 | 100103058 | Human | | name |
| 15190013 | CV731501 | single nucleotide variant | NM_194292.3(SASS6):c.1835G>A (p.Arg612His) | Microcephaly 14, primary, autosomal recessive [RCV003346207]|not provided [RCV000909822]|not specified [RCV001818822] | benign | 1 | 100085568 | 100085568 | Human | 1 | name |
| 15154255 | CV745486 | single nucleotide variant | NM_194292.3(SASS6):c.1921G>A (p.Ala641Thr) | not provided [RCV000924222] | likely benign | 1 | 100085381 | 100085381 | Human | | name |
| 401916536 | CV2831155 | deletion | NM_194292.3(SASS6):c.763_766del (p.Ser255_Glu256insTer) | not provided [RCV003443424] | uncertain significance | 1 | 100110387 | 100110390 | Human | | name |
