| 151872896 | CV1339797 | single nucleotide variant | NM_004177.5(STX3):c.30+1G>T | not provided [RCV002035903] | likely pathogenic | 11 | 59755636 | 59755636 | Human | | name |
| 127234383 | CV1100067 | single nucleotide variant | NM_004177.5(STX3):c.358-4A>G | not provided [RCV001422033] | likely benign | 11 | 59792103 | 59792103 | Human | | name |
| 150338302 | CV1173961 | single nucleotide variant | NM_004177.5(STX3):c.115-2A>G | Retinal dystrophy and microvillus inclusion disease [RCV001542246] | pathogenic | 11 | 59787035 | 59787035 | Human | 1 | name |
| 152059299 | CV1539221 | single nucleotide variant | NM_004177.5(STX3):c.30+17G>A | not provided [RCV002073480] | likely benign | 11 | 59755652 | 59755652 | Human | | name |
| 152144012 | CV1582456 | single nucleotide variant | NM_004177.5(STX3):c.676-4G>A | not provided [RCV002200957] | likely benign | 11 | 59795368 | 59795368 | Human | | name |
| 152033000 | CV1610260 | single nucleotide variant | NM_004177.5(STX3):c.30+12C>T | not provided [RCV002124854] | benign | 11 | 59755647 | 59755647 | Human | | name |
| 152058740 | CV1644638 | single nucleotide variant | NM_004177.5(STX3):c.30+12C>A | not provided [RCV002167751] | likely benign | 11 | 59755647 | 59755647 | Human | | name |
| 152160223 | CV1651901 | single nucleotide variant | NM_004177.5(STX3):c.289+8G>T | not provided [RCV002180802] | likely benign | 11 | 59788955 | 59788955 | Human | | name |
| 152115607 | CV1654142 | single nucleotide variant | NM_004177.5(STX3):c.786+7C>A | not provided [RCV002097438] | likely benign | 11 | 59795489 | 59795489 | Human | | name |
| 156249306 | CV2174494 | single nucleotide variant | NM_004177.5(STX3):c.115-3T>C | not provided [RCV003043730] | uncertain significance | 11 | 59787034 | 59787034 | Human | | name |
| 405112480 | CV2900487 | single nucleotide variant | NM_004177.5(STX3):c.115-7A>G | not provided [RCV003558073] | likely benign | 11 | 59787030 | 59787030 | Human | | name |
| 402494830 | CV3004991 | single nucleotide variant | NM_004177.5(STX3):c.30+10G>A | not provided [RCV003687905] | likely benign | 11 | 59755645 | 59755645 | Human | | name |
| 405082232 | CV3016999 | single nucleotide variant | NM_004177.5(STX3):c.357+8T>A | not provided [RCV003699131] | likely benign | 11 | 59790594 | 59790594 | Human | | name |
| 405054827 | CV3138515 | single nucleotide variant | NM_004177.5(STX3):c.30+12C>G | not provided [RCV003832359] | likely benign | 11 | 59755647 | 59755647 | Human | | name |
| 405239800 | CV3166021 | single nucleotide variant | NM_004177.5(STX3):c.30+13G>T | not provided [RCV003867033] | likely benign | 11 | 59755648 | 59755648 | Human | | name |
| 404997112 | CV3172941 | single nucleotide variant | NM_004177.5(STX3):c.540+9C>A | not provided [RCV003882223] | likely benign | 11 | 59793181 | 59793181 | Human | | name |
| 597940820 | CV3789077 | single nucleotide variant | NM_004177.5(STX3):c.31-16T>A | not provided [RCV005133540] | likely benign | 11 | 59773195 | 59773195 | Human | | name |
| 597876923 | CV3813293 | single nucleotide variant | NM_004177.5(STX3):c.358-7C>T | not provided [RCV005149229] | likely benign | 11 | 59792100 | 59792100 | Human | | name |
| 597942652 | CV3816295 | single nucleotide variant | NM_004177.5(STX3):c.30+20G>C | not provided [RCV005159356] | likely benign | 11 | 59755655 | 59755655 | Human | | name |
| 597912270 | CV3850651 | single nucleotide variant | NM_004177.5(STX3):c.467-6A>G | not provided [RCV005203799] | likely benign | 11 | 59793093 | 59793093 | Human | | name |
| 15159799 | CV777950 | single nucleotide variant | NM_004177.5(STX3):c.290-5T>C | not provided [RCV000947350] | benign | 11 | 59790514 | 59790514 | Human | | name |
| 127238882 | CV1078349 | single nucleotide variant | NM_004177.5(STX3):c.115-15T>C | not provided [RCV001397407] | likely benign | 11 | 59787022 | 59787022 | Human | | name |
| 127333173 | CV1121554 | single nucleotide variant | NM_004177.5(STX3):c.540+19C>T | not provided [RCV001472708] | likely benign | 11 | 59793191 | 59793191 | Human | | name |
| 127302702 | CV1142413 | single nucleotide variant | NM_004177.5(STX3):c.786+13T>C | not provided [RCV001499130] | likely benign | 11 | 59795495 | 59795495 | Human | | name |
| 152029828 | CV1568699 | single nucleotide variant | NM_004177.5(STX3):c.358-13C>T | not provided [RCV002186288] | likely benign | 11 | 59792094 | 59792094 | Human | | name |
| 152143662 | CV1582406 | single nucleotide variant | NM_004177.5(STX3):c.289+17G>T | not provided [RCV002200907] | likely benign | 11 | 59788964 | 59788964 | Human | | name |
| 152129854 | CV1583965 | single nucleotide variant | NM_004177.5(STX3):c.466+19G>T | not provided [RCV002199176] | likely benign | 11 | 59792234 | 59792234 | Human | | name |
| 152060784 | CV1597112 | single nucleotide variant | NM_004177.5(STX3):c.540+20G>T | not provided [RCV002208629] | likely benign | 11 | 59793192 | 59793192 | Human | | name |
| 152084777 | CV1622941 | single nucleotide variant | NM_004177.5(STX3):c.467-10T>C | not provided [RCV002113237] | likely benign | 11 | 59793089 | 59793089 | Human | | name |
| 152074879 | CV1630390 | single nucleotide variant | NM_004177.5(STX3):c.676-11G>T | not provided [RCV002169775] | likely benign | 11 | 59795361 | 59795361 | Human | | name |
| 152028371 | CV1642763 | single nucleotide variant | NM_004177.5(STX3):c.289+13C>T | not provided [RCV002185814] | likely benign | 11 | 59788960 | 59788960 | Human | | name |
| 156419636 | CV1973877 | single nucleotide variant | NM_004177.5(STX3):c.540+11T>G | not provided [RCV002612875] | likely benign | 11 | 59793183 | 59793183 | Human | | name |
| 156177195 | CV1996723 | single nucleotide variant | NM_004177.5(STX3):c.675+11G>A | not provided [RCV002642912] | likely benign | 11 | 59793525 | 59793525 | Human | | name |
| 156374234 | CV2003846 | single nucleotide variant | NM_004177.5(STX3):c.358-20C>T | not provided [RCV002653157] | likely benign | 11 | 59792087 | 59792087 | Human | | name |
| 156230595 | CV2024251 | single nucleotide variant | NM_004177.5(STX3):c.540+20G>A | not provided [RCV002745291] | likely benign|uncertain significance | 11 | 59793192 | 59793192 | Human | | name |
| 156172629 | CV2055511 | single nucleotide variant | NM_004177.5(STX3):c.115-19A>G | not provided [RCV002828036] | likely benign | 11 | 59787018 | 59787018 | Human | | name |
| 156051397 | CV2060070 | single nucleotide variant | NM_004177.5(STX3):c.357+16G>A | not provided [RCV002796780] | likely benign | 11 | 59790602 | 59790602 | Human | | name |
| 156009999 | CV2075491 | single nucleotide variant | NM_004177.5(STX3):c.786+20T>C | not provided [RCV002843820] | likely benign | 11 | 59795502 | 59795502 | Human | | name |
| 156228080 | CV2088897 | single nucleotide variant | NM_004177.5(STX3):c.289+18A>G | not provided [RCV002876130] | likely benign | 11 | 59788965 | 59788965 | Human | | name |
| 156005750 | CV2165114 | single nucleotide variant | NM_004177.5(STX3):c.466+14G>T | not provided [RCV003034985] | uncertain significance | 11 | 59792229 | 59792229 | Human | | name |
| 156138276 | CV2165901 | single nucleotide variant | NM_004177.5(STX3):c.786+14G>C | not provided [RCV003022428] | likely benign | 11 | 59795496 | 59795496 | Human | | name |
| 405123652 | CV2889400 | single nucleotide variant | NM_004177.5(STX3):c.215-10A>G | not provided [RCV003559360] | likely benign | 11 | 59788863 | 59788863 | Human | | name |
| 405165179 | CV2905680 | single nucleotide variant | NM_004177.5(STX3):c.290-11C>T | not provided [RCV003562625] | likely benign | 11 | 59790508 | 59790508 | Human | | name |
| 405170600 | CV2951153 | single nucleotide variant | NM_004177.5(STX3):c.675+11G>T | not provided [RCV003675298] | likely benign | 11 | 59793525 | 59793525 | Human | | name |
| 405119126 | CV2993783 | single nucleotide variant | NM_004177.5(STX3):c.290-17C>T | not provided [RCV003723687] | likely benign | 11 | 59790502 | 59790502 | Human | | name |
| 404994639 | CV2996015 | single nucleotide variant | NM_004177.5(STX3):c.114+15T>A | not provided [RCV003692562] | likely benign | 11 | 59773309 | 59773309 | Human | | name |
| 405092905 | CV3025987 | single nucleotide variant | NM_004177.5(STX3):c.675+14A>G | not provided [RCV003699794] | likely benign | 11 | 59793528 | 59793528 | Human | | name |
| 405195100 | CV3146470 | single nucleotide variant | NM_004177.5(STX3):c.466+18G>C | not provided [RCV003843825] | likely benign | 11 | 59792233 | 59792233 | Human | | name |
| 597895960 | CV3740372 | single nucleotide variant | NM_004177.5(STX3):c.540+19C>G | not provided [RCV005071725] | likely benign | 11 | 59793191 | 59793191 | Human | | name |
| 597886248 | CV3741776 | single nucleotide variant | NM_004177.5(STX3):c.466+20C>T | not provided [RCV005070495] | likely benign | 11 | 59792235 | 59792235 | Human | | name |
| 597924736 | CV3748524 | single nucleotide variant | NM_004177.5(STX3):c.540+18T>C | not provided [RCV005075172] | likely benign | 11 | 59793190 | 59793190 | Human | | name |
| 597846639 | CV3753102 | single nucleotide variant | NM_004177.5(STX3):c.290-18C>T | not provided [RCV005087327] | likely benign | 11 | 59790501 | 59790501 | Human | | name |
| 597952140 | CV3765564 | single nucleotide variant | NM_004177.5(STX3):c.214+16G>A | not provided [RCV005121208] | likely benign | 11 | 59787152 | 59787152 | Human | | name |
| 597897665 | CV3782423 | duplication | NM_004177.5(STX3):c.786+10dup | not provided [RCV005126648] | likely benign | 11 | 59795491 | 59795492 | Human | | name |
| 597898596 | CV3782587 | single nucleotide variant | NM_004177.5(STX3):c.215-16G>C | not provided [RCV005126812] | likely benign | 11 | 59788857 | 59788857 | Human | | name |
| 597955170 | CV3809416 | single nucleotide variant | NM_004177.5(STX3):c.215-20G>A | not provided [RCV005162140] | likely benign | 11 | 59788853 | 59788853 | Human | | name |
| 597911314 | CV3816913 | single nucleotide variant | NM_004177.5(STX3):c.289+13C>A | not provided [RCV005154310] | likely benign | 11 | 59788960 | 59788960 | Human | | name |
| 597910141 | CV3830149 | deletion | NM_004177.5(STX3):c.114+14del | not provided [RCV005182719] | likely benign | 11 | 59773307 | 59773307 | Human | | name |
| 8653131 | CV129706 | single nucleotide variant | NM_001178040.1(STX3):c.31-1730G>T | Lung cancer [RCV000110193] | uncertain significance | 11 | 59771481 | 59771481 | Human | | name |
| 405179670 | CV2956131 | deletion | NM_004177.5(STX3):c.30+29_30+43del | not provided [RCV003676144] | likely benign | 11 | 59755654 | 59755668 | Human | | name |
| 156300857 | CV2069905 | single nucleotide variant | NM_004177.5(STX3):c.12T>C (p.Arg4=) | not provided [RCV002833612] | likely benign | 11 | 59755617 | 59755617 | Human | | name |
| 156081477 | CV2098694 | single nucleotide variant | NM_004177.5(STX3):c.24G>A (p.Leu8=) | not provided [RCV002912718] | likely benign | 11 | 59755629 | 59755629 | Human | | name |
| 156165715 | CV2045153 | microsatellite | NM_004177.5(STX3):c.467-14_467-12del | not provided [RCV002741705] | likely benign | 11 | 59793082 | 59793084 | Human | | name |
| 156112401 | CV2088260 | single nucleotide variant | NM_004177.5(STX3):c.54T>C (p.Asp18=) | not provided [RCV002889242] | likely benign | 11 | 59773234 | 59773234 | Human | | name |
| 402517024 | CV2874555 | single nucleotide variant | NM_004177.5(STX3):c.33G>A (p.Lys11=) | not provided [RCV003547476] | likely benign | 11 | 59773213 | 59773213 | Human | | name |
| 405005481 | CV2929364 | single nucleotide variant | NM_004177.5(STX3):c.66T>A (p.Val22=) | not provided [RCV003576257] | likely benign | 11 | 59773246 | 59773246 | Human | | name |
| 405132038 | CV3133512 | single nucleotide variant | NM_004177.5(STX3):c.99C>T (p.Asp33=) | not provided [RCV003838482] | likely benign | 11 | 59773279 | 59773279 | Human | | name |
| 597833336 | CV3760429 | single nucleotide variant | NM_004177.5(STX3):c.78C>A (p.Ile26=) | not provided [RCV005085172] | likely benign | 11 | 59773258 | 59773258 | Human | | name |
| 597889305 | CV3766374 | single nucleotide variant | NM_004177.5(STX3):c.87G>A (p.Thr29=) | not provided [RCV005110491] | likely benign | 11 | 59773267 | 59773267 | Human | | name |
| 597839239 | CV3824918 | single nucleotide variant | NM_004177.5(STX3):c.78C>T (p.Ile26=) | not provided [RCV005171782] | likely benign | 11 | 59773258 | 59773258 | Human | | name |
| 127233678 | CV1078350 | single nucleotide variant | NM_004177.5(STX3):c.201G>A (p.Pro67=) | not provided [RCV001413989] | likely benign | 11 | 59787123 | 59787123 | Human | | name |
| 152111347 | CV1552405 | single nucleotide variant | NM_004177.5(STX3):c.219C>T (p.Thr73=) | not provided [RCV002134525] | likely benign | 11 | 59788877 | 59788877 | Human | | name |
| 152149526 | CV1569365 | single nucleotide variant | NM_004177.5(STX3):c.135C>T (p.Asn45=) | not provided [RCV002220583] | likely benign | 11 | 59787057 | 59787057 | Human | | name |
| 152175914 | CV1580177 | single nucleotide variant | NM_004177.5(STX3):c.159A>G (p.Val53=) | not provided [RCV002164052] | likely benign | 11 | 59787081 | 59787081 | Human | | name |
| 152147207 | CV1656081 | single nucleotide variant | NM_004177.5(STX3):c.228C>T (p.Asp76=) | STX3-related disorder [RCV003933336]|not provided [RCV002220233] | benign|likely benign | 11 | 59788886 | 59788886 | Human | 1 | name , trait , alternate_id |
| 156447065 | CV1944700 | single nucleotide variant | NM_004177.5(STX3):c.243G>A (p.Thr81=) | not provided [RCV003118592] | likely benign | 11 | 59788901 | 59788901 | Human | | name |
| 156343055 | CV1981632 | single nucleotide variant | NM_004177.5(STX3):c.180C>T (p.Tyr60=) | STX3-related disorder [RCV003943465]|not provided [RCV002631529] | likely benign | 11 | 59787102 | 59787102 | Human | 1 | name , trait , alternate_id |
| 156099295 | CV2042108 | single nucleotide variant | NM_004177.5(STX3):c.270C>T (p.Asn90=) | STX3-related disorder [RCV003926444]|not provided [RCV002761255] | likely benign | 11 | 59788928 | 59788928 | Human | 1 | name , trait , alternate_id |
| 155904029 | CV2084034 | single nucleotide variant | NM_004177.5(STX3):c.147C>A (p.Ile49=) | not provided [RCV002858036] | likely benign | 11 | 59787069 | 59787069 | Human | | name |
| 156071178 | CV2168918 | single nucleotide variant | NM_004177.5(STX3):c.10C>T (p.Arg4Cys) | not provided [RCV003037572] | uncertain significance | 11 | 59755615 | 59755615 | Human | | name |
| 405233359 | CV3145046 | single nucleotide variant | NM_004177.5(STX3):c.183T>C (p.Ser61=) | not provided [RCV003853303] | likely benign | 11 | 59787105 | 59787105 | Human | | name |
| 597633636 | CV3615188 | single nucleotide variant | NM_004177.5(STX3):c.23T>C (p.Leu8Pro) | Inborn genetic diseases [RCV004969141] | uncertain significance | 11 | 59755628 | 59755628 | Human | 1 | name |
| 597907662 | CV3804223 | single nucleotide variant | NM_004177.5(STX3):c.279C>T (p.Asn93=) | not provided [RCV005153769] | likely benign | 11 | 59788937 | 59788937 | Human | | name |
| 597928745 | CV3851833 | single nucleotide variant | NM_004177.5(STX3):c.264C>T (p.Ala88=) | not provided [RCV005206301] | likely benign | 11 | 59788922 | 59788922 | Human | | name |
| 15187015 | CV724508 | single nucleotide variant | NM_004177.5(STX3):c.291C>T (p.Ser97=) | STX3-related disorder [RCV003975590]|not provided [RCV000887138] | benign|likely benign | 11 | 59790520 | 59790520 | Human | 1 | name , trait , alternate_id |
| 127273217 | CV1078351 | single nucleotide variant | NM_004177.5(STX3):c.723C>T (p.Asp241=) | not provided [RCV001405948] | likely benign | 11 | 59795419 | 59795419 | Human | | name |
| 127331417 | CV1121553 | single nucleotide variant | NM_004177.5(STX3):c.483C>T (p.Thr161=) | STX3-related disorder [RCV003900627]|not provided [RCV001471544] | likely benign | 11 | 59793115 | 59793115 | Human | 1 | name , trait , alternate_id |
| 151839087 | CV1344972 | single nucleotide variant | NM_004177.5(STX3):c.29C>T (p.Ala10Val) | not provided [RCV002015111] | uncertain significance | 11 | 59755634 | 59755634 | Human | | name |
| 151837149 | CV1383197 | single nucleotide variant | NM_004177.5(STX3):c.62C>T (p.Ala21Val) | not provided [RCV001935675] | uncertain significance | 11 | 59773242 | 59773242 | Human | | name |
| 151712410 | CV1423133 | single nucleotide variant | NM_004177.5(STX3):c.36G>C (p.Gln12His) | not provided [RCV002002244] | uncertain significance | 11 | 59773216 | 59773216 | Human | | name |
| 151797604 | CV1424405 | single nucleotide variant | NM_004177.5(STX3):c.86C>T (p.Thr29Met) | not provided [RCV002047686] | uncertain significance | 11 | 59773266 | 59773266 | Human | | name |
| 151837926 | CV1492432 | single nucleotide variant | NM_004177.5(STX3):c.47A>G (p.Asp16Gly) | not provided [RCV002051417] | uncertain significance | 11 | 59773227 | 59773227 | Human | | name |
| 151723318 | CV1500252 | single nucleotide variant | NM_004177.5(STX3):c.675G>A (p.Gln225=) | not provided [RCV001910034] | uncertain significance | 11 | 59793514 | 59793514 | Human | | name |
| 152174340 | CV1536318 | single nucleotide variant | NM_004177.5(STX3):c.762G>C (p.Val254=) | not provided [RCV002144404] | likely benign | 11 | 59795458 | 59795458 | Human | | name |
| 152082021 | CV1558685 | single nucleotide variant | NM_004177.5(STX3):c.726C>T (p.His242=) | not provided [RCV002149437] | likely benign | 11 | 59795422 | 59795422 | Human | | name |
| 152149640 | CV1566599 | single nucleotide variant | NM_004177.5(STX3):c.327A>T (p.Ser109=) | STX3-related disorder [RCV003951265]|not provided [RCV002139320] | likely benign | 11 | 59790556 | 59790556 | Human | 1 | name , trait , alternate_id |
| 152114356 | CV1574824 | single nucleotide variant | NM_004177.5(STX3):c.522G>A (p.Pro174=) | not provided [RCV002116984] | likely benign | 11 | 59793154 | 59793154 | Human | | name |
| 152118159 | CV1620057 | single nucleotide variant | NM_004177.5(STX3):c.498G>A (p.Glu166=) | not provided [RCV002216419] | likely benign | 11 | 59793130 | 59793130 | Human | | name |
| 152070105 | CV1628310 | single nucleotide variant | NM_004177.5(STX3):c.636C>T (p.His212=) | not provided [RCV002169181] | likely benign | 11 | 59793475 | 59793475 | Human | | name |
| 152142675 | CV1636485 | single nucleotide variant | NM_004177.5(STX3):c.477G>A (p.Lys159=) | not provided [RCV002120592] | likely benign | 11 | 59793109 | 59793109 | Human | | name |
| 152150739 | CV1663210 | single nucleotide variant | NM_004177.5(STX3):c.654C>T (p.Ile218=) | not provided [RCV002158151] | likely benign | 11 | 59793493 | 59793493 | Human | | name |
| 156044787 | CV1927049 | single nucleotide variant | NM_004177.5(STX3):c.861G>A (p.Gly287=) | not provided [RCV002637718] | likely benign | 11 | 59797357 | 59797357 | Human | | name |
| 156224577 | CV2009376 | single nucleotide variant | NM_004177.5(STX3):c.699G>A (p.Glu233=) | not provided [RCV002701134] | likely benign | 11 | 59795395 | 59795395 | Human | | name |
| 156002277 | CV2057512 | single nucleotide variant | NM_004177.5(STX3):c.543C>A (p.Ile181=) | not provided [RCV002819711] | likely benign | 11 | 59793382 | 59793382 | Human | | name |
| 156135611 | CV2097340 | single nucleotide variant | NM_004177.5(STX3):c.402C>T (p.Tyr134=) | not provided [RCV002890112] | likely benign | 11 | 59792151 | 59792151 | Human | | name |
| 156213305 | CV2110788 | single nucleotide variant | NM_004177.5(STX3):c.837A>C (p.Ala279=) | not provided [RCV002918253] | likely benign | 11 | 59797333 | 59797333 | Human | | name |
| 156012263 | CV2137326 | single nucleotide variant | NM_004177.5(STX3):c.399A>G (p.Lys133=) | not provided [RCV003017808] | likely benign | 11 | 59792148 | 59792148 | Human | | name |
| 156188755 | CV2160713 | single nucleotide variant | NM_004177.5(STX3):c.390G>A (p.Val130=) | not provided [RCV003024062] | likely benign | 11 | 59792139 | 59792139 | Human | | name |
| 156163036 | CV2191965 | single nucleotide variant | NM_004177.5(STX3):c.849A>G (p.Gly283=) | not provided [RCV003040780] | likely benign | 11 | 59797345 | 59797345 | Human | | name |
| 156194135 | CV2223317 | single nucleotide variant | NM_004177.5(STX3):c.79G>A (p.Asp27Asn) | Inborn genetic diseases [RCV002743026] | uncertain significance | 11 | 59773259 | 59773259 | Human | 1 | name |
| 156055226 | CV2308763 | single nucleotide variant | NM_004177.5(STX3):c.34C>G (p.Gln12Glu) | Inborn genetic diseases [RCV002911443] | uncertain significance | 11 | 59773214 | 59773214 | Human | 1 | name |
| 405218120 | CV2907465 | single nucleotide variant | NM_004177.5(STX3):c.864G>A (p.Leu288=) | not provided [RCV003568044] | likely benign | 11 | 59797360 | 59797360 | Human | | name |
| 405242380 | CV2967283 | single nucleotide variant | NM_004177.5(STX3):c.459C>T (p.Leu153=) | not provided [RCV003684339] | likely benign | 11 | 59792208 | 59792208 | Human | | name |
| 405164105 | CV3017972 | single nucleotide variant | NM_004177.5(STX3):c.303T>C (p.His101=) | not provided [RCV003704104] | likely benign | 11 | 59790532 | 59790532 | Human | | name |
| 405203803 | CV3033371 | single nucleotide variant | NM_004177.5(STX3):c.360C>T (p.His120=) | not provided [RCV003707741] | likely benign | 11 | 59792109 | 59792109 | Human | | name |
| 405157992 | CV3152626 | single nucleotide variant | NM_004177.5(STX3):c.621C>T (p.Ser207=) | not provided [RCV003840553] | likely benign | 11 | 59793460 | 59793460 | Human | | name |
| 597960056 | CV3746186 | single nucleotide variant | NM_004177.5(STX3):c.59A>T (p.Asp20Val) | not provided [RCV005081434] | uncertain significance | 11 | 59773239 | 59773239 | Human | | name |
| 597925684 | CV3748812 | single nucleotide variant | NM_004177.5(STX3):c.414A>G (p.Gln138=) | not provided [RCV005075268] | likely benign | 11 | 59792163 | 59792163 | Human | | name |
| 597936715 | CV3807700 | single nucleotide variant | NM_004177.5(STX3):c.750G>A (p.Thr250=) | not provided [RCV005158079] | likely benign | 11 | 59795446 | 59795446 | Human | | name |
| 597875747 | CV3813050 | single nucleotide variant | NM_004177.5(STX3):c.300G>A (p.Lys100=) | not provided [RCV005148986] | likely benign | 11 | 59790529 | 59790529 | Human | | name |
| 597957902 | CV3814492 | single nucleotide variant | NM_004177.5(STX3):c.495G>A (p.Leu165=) | not provided [RCV005162823] | likely benign | 11 | 59793127 | 59793127 | Human | | name |
| 597953546 | CV3844012 | single nucleotide variant | NM_004177.5(STX3):c.330G>A (p.Ser110=) | not provided [RCV005190874] | likely benign | 11 | 59790559 | 59790559 | Human | | name |
| 15199099 | CV701818 | single nucleotide variant | NM_004177.5(STX3):c.540G>A (p.Gly180=) | not provided [RCV000956945] | benign | 11 | 59793172 | 59793172 | Human | | name |
| 15159890 | CV712899 | single nucleotide variant | NM_004177.5(STX3):c.44A>G (p.Gln15Arg) | not provided [RCV000969795] | likely benign | 11 | 59773224 | 59773224 | Human | | name |
| 15189979 | CV724509 | single nucleotide variant | NM_004177.5(STX3):c.645T>C (p.Phe215=) | not provided [RCV000887974] | benign | 11 | 59793484 | 59793484 | Human | | name |
| 15167497 | CV738044 | single nucleotide variant | NM_004177.5(STX3):c.318G>A (p.Glu106=) | not provided [RCV000904665] | likely benign | 11 | 59790547 | 59790547 | Human | | name |
| 8634220 | CV89438 | single nucleotide variant | NM_004177.5(STX3):c.354C>T (p.Ser118=) | not provided [RCV003560083] | likely benign|not provided | 11 | 59790583 | 59790583 | Human | | name |
| 126921340 | CV1047290 | single nucleotide variant | NM_004177.5(STX3):c.242C>T (p.Thr81Met) | Inborn genetic diseases [RCV002550038]|not provided [RCV001363422] | uncertain significance | 11 | 59788900 | 59788900 | Human | 1 | name |
| 151849804 | CV1345464 | single nucleotide variant | NM_004177.5(STX3):c.194C>G (p.Ser65Cys) | Inborn genetic diseases [RCV003164084]|not provided [RCV001903940] | uncertain significance | 11 | 59787116 | 59787116 | Human | 1 | name |
| 151869108 | CV1345847 | single nucleotide variant | NM_004177.5(STX3):c.274C>T (p.Arg92Trp) | Inborn genetic diseases [RCV002553478]|not provided [RCV001924971] | uncertain significance | 11 | 59788932 | 59788932 | Human | 1 | name |
| 151755153 | CV1365492 | single nucleotide variant | NM_004177.5(STX3):c.271G>A (p.Val91Ile) | Inborn genetic diseases [RCV004681280]|not provided [RCV001872647] | uncertain significance | 11 | 59788929 | 59788929 | Human | 1 | name |
| 151816922 | CV1384652 | single nucleotide variant | NM_004177.5(STX3):c.270C>A (p.Asn90Lys) | Inborn genetic diseases [RCV003365592]|not provided [RCV001992386] | uncertain significance | 11 | 59788928 | 59788928 | Human | 1 | name |
| 151817441 | CV1385614 | single nucleotide variant | NM_004177.5(STX3):c.211C>A (p.Pro71Thr) | not provided [RCV002013042] | uncertain significance | 11 | 59787133 | 59787133 | Human | | name |
| 151794402 | CV1394981 | single nucleotide variant | NM_004177.5(STX3):c.210G>C (p.Glu70Asp) | Inborn genetic diseases [RCV004042147]|not provided [RCV001973346] | uncertain significance | 11 | 59787132 | 59787132 | Human | 1 | name |
| 151764313 | CV1403132 | single nucleotide variant | NM_004177.5(STX3):c.187A>G (p.Ile63Val) | not provided [RCV001914344] | uncertain significance | 11 | 59787109 | 59787109 | Human | | name |
| 151775813 | CV1427090 | single nucleotide variant | NM_004177.5(STX3):c.287A>G (p.Lys96Arg) | not provided [RCV002009277] | uncertain significance | 11 | 59788945 | 59788945 | Human | | name |
| 151795725 | CV1434512 | single nucleotide variant | NM_004177.5(STX3):c.140A>G (p.Asp47Gly) | not provided [RCV001866662] | uncertain significance | 11 | 59787062 | 59787062 | Human | | name |
| 151760236 | CV1434988 | single nucleotide variant | NM_004177.5(STX3):c.275G>A (p.Arg92Gln) | not provided [RCV001913892] | uncertain significance | 11 | 59788933 | 59788933 | Human | | name |
| 151761684 | CV1496472 | single nucleotide variant | NM_004177.5(STX3):c.175C>T (p.Leu59Phe) | not provided [RCV001895397] | uncertain significance | 11 | 59787097 | 59787097 | Human | | name |
| 151875149 | CV1511682 | single nucleotide variant | NM_004177.5(STX3):c.271G>T (p.Val91Phe) | Inborn genetic diseases [RCV004044489]|not provided [RCV001960950] | uncertain significance | 11 | 59788929 | 59788929 | Human | 1 | name |
| 156290752 | CV1897502 | single nucleotide variant | NM_004177.5(STX3):c.127C>T (p.Arg43Trp) | not provided [RCV002598744] | uncertain significance | 11 | 59787049 | 59787049 | Human | | name |
| 156140428 | CV1898496 | single nucleotide variant | NM_004177.5(STX3):c.155A>G (p.His52Arg) | Inborn genetic diseases [RCV003082180]|not provided [RCV003088111] | uncertain significance | 11 | 59787077 | 59787077 | Human | 1 | name |
| 156223619 | CV1960404 | single nucleotide variant | NM_004177.5(STX3):c.217A>G (p.Thr73Ala) | not provided [RCV002575620] | uncertain significance | 11 | 59788875 | 59788875 | Human | | name |
| 156087541 | CV2008829 | single nucleotide variant | NM_004177.5(STX3):c.200C>T (p.Pro67Leu) | not provided [RCV002706196] | uncertain significance | 11 | 59787122 | 59787122 | Human | | name |
| 10408154 | CV205602 | single nucleotide variant | NM_004177.5(STX3):c.122A>G (p.Glu41Gly) | not provided [RCV000190984] | uncertain significance | 11 | 59787044 | 59787044 | Human | | name |
| 155919298 | CV2102295 | single nucleotide variant | NM_004177.5(STX3):c.136A>G (p.Ile46Val) | not provided [RCV002903271] | uncertain significance | 11 | 59787058 | 59787058 | Human | | name |
| 156202962 | CV2179106 | single nucleotide variant | NM_004177.5(STX3):c.214A>C (p.Lys72Gln) | not provided [RCV003024517] | uncertain significance | 11 | 59787136 | 59787136 | Human | | name |
| 155921292 | CV2240504 | single nucleotide variant | NM_004177.5(STX3):c.190C>T (p.Leu64Phe) | Inborn genetic diseases [RCV002773041] | uncertain significance | 11 | 59787112 | 59787112 | Human | 1 | name |
| 405780785 | CV3331050 | single nucleotide variant | NM_004177.5(STX3):c.197C>T (p.Ala66Val) | Inborn genetic diseases [RCV004458628] | uncertain significance | 11 | 59787119 | 59787119 | Human | 1 | name |
| 597930777 | CV3789381 | deletion | NM_004177.5(STX3):c.756del (p.Ala253fs) | not provided [RCV005131662] | pathogenic | 11 | 59795447 | 59795447 | Human | | name |
| 598220436 | CV3916105 | single nucleotide variant | NM_004177.5(STX3):c.187A>C (p.Ile63Leu) | Inborn genetic diseases [RCV005293489] | uncertain significance | 11 | 59787109 | 59787109 | Human | 1 | name |
| 126754798 | CV994573 | single nucleotide variant | NM_004177.5(STX3):c.178T>C (p.Tyr60His) | not provided [RCV001307713] | uncertain significance | 11 | 59787100 | 59787100 | Human | | name |
| 126911570 | CV1047291 | single nucleotide variant | NM_004177.5(STX3):c.857T>C (p.Val286Ala) | Inborn genetic diseases [RCV004037074]|not provided [RCV001369280] | uncertain significance | 11 | 59797353 | 59797353 | Human | 1 | name |
| 127262526 | CV1062383 | single nucleotide variant | NM_004177.5(STX3):c.739C>T (p.Arg247Ter) | Diarrhea 12, with microvillus atrophy [RCV001542243]|not provided [RCV001380743] | pathogenic | 11 | 59795435 | 59795435 | Human | 1 | name |
| 127294672 | CV1121555 | single nucleotide variant | NM_004177.5(STX3):c.856G>A (p.Val286Ile) | not provided [RCV001476882] | likely benign | 11 | 59797352 | 59797352 | Human | | name |
| 151727801 | CV1338658 | single nucleotide variant | NM_004177.5(STX3):c.590G>T (p.Arg197Leu) | not provided [RCV002004468] | uncertain significance | 11 | 59793429 | 59793429 | Human | | name |
| 151750176 | CV1359034 | single nucleotide variant | NM_004177.5(STX3):c.518A>T (p.Asn173Ile) | not provided [RCV001969113] | uncertain significance | 11 | 59793150 | 59793150 | Human | | name |
| 151863062 | CV1368276 | single nucleotide variant | NM_004177.5(STX3):c.367C>T (p.Leu123Phe) | not provided [RCV001905546] | uncertain significance | 11 | 59792116 | 59792116 | Human | | name |
| 151881345 | CV1384870 | single nucleotide variant | NM_004177.5(STX3):c.539G>A (p.Gly180Glu) | not provided [RCV001982595] | uncertain significance | 11 | 59793171 | 59793171 | Human | | name |
| 151763982 | CV1403082 | single nucleotide variant | NM_004177.5(STX3):c.521C>T (p.Pro174Leu) | Inborn genetic diseases [RCV004970532]|not provided [RCV001914309] | uncertain significance | 11 | 59793153 | 59793153 | Human | 1 | name |
| 151842279 | CV1433156 | single nucleotide variant | NM_004177.5(STX3):c.739C>G (p.Arg247Gly) | not provided [RCV001994900] | likely benign | 11 | 59795435 | 59795435 | Human | | name |
| 151819922 | CV1450126 | single nucleotide variant | NM_004177.5(STX3):c.556A>G (p.Ile186Val) | not provided [RCV001879117] | uncertain significance | 11 | 59793395 | 59793395 | Human | | name |
| 151862958 | CV1454288 | single nucleotide variant | NM_004177.5(STX3):c.740G>A (p.Arg247Gln) | not provided [RCV001938798] | uncertain significance | 11 | 59795436 | 59795436 | Human | | name |
| 151771229 | CV1477514 | single nucleotide variant | NM_004177.5(STX3):c.404A>G (p.Asn135Ser) | not provided [RCV001950173] | uncertain significance | 11 | 59792153 | 59792153 | Human | | name |
| 151755316 | CV1483949 | single nucleotide variant | NM_004177.5(STX3):c.752A>G (p.Lys251Arg) | Inborn genetic diseases [RCV002555392]|not provided [RCV001927920] | uncertain significance | 11 | 59795448 | 59795448 | Human | 1 | name |
| 151730883 | CV1489605 | single nucleotide variant | NM_004177.5(STX3):c.373C>T (p.Arg125Trp) | Inborn genetic diseases [RCV004970418]|not provided [RCV001910858] | uncertain significance | 11 | 59792122 | 59792122 | Human | 1 | name |
| 151738964 | CV1492257 | single nucleotide variant | NM_004177.5(STX3):c.329C>T (p.Ser110Leu) | not provided [RCV002042041] | uncertain significance | 11 | 59790558 | 59790558 | Human | | name |
| 151785920 | CV1495364 | single nucleotide variant | NM_004177.5(STX3):c.358C>T (p.His120Tyr) | not provided [RCV002026711] | uncertain significance | 11 | 59792107 | 59792107 | Human | | name |
| 151736059 | CV1507032 | single nucleotide variant | NM_004177.5(STX3):c.749C>T (p.Thr250Met) | not provided [RCV001984730] | uncertain significance | 11 | 59795445 | 59795445 | Human | | name |
| 151875757 | CV1507950 | single nucleotide variant | NM_004177.5(STX3):c.643T>C (p.Phe215Leu) | not provided [RCV001961021] | uncertain significance | 11 | 59793482 | 59793482 | Human | | name |
| 151840491 | CV1508250 | single nucleotide variant | NM_004177.5(STX3):c.646A>G (p.Met216Val) | not provided [RCV001956689] | uncertain significance | 11 | 59793485 | 59793485 | Human | | name |
| 151742350 | CV1514746 | single nucleotide variant | NM_004177.5(STX3):c.443G>A (p.Arg148Gln) | not provided [RCV002022441] | uncertain significance | 11 | 59792192 | 59792192 | Human | | name |
| 156355532 | CV1894819 | single nucleotide variant | NM_004177.5(STX3):c.442C>T (p.Arg148Ter) | not provided [RCV003091321] | pathogenic | 11 | 59792191 | 59792191 | Human | | name |
| 156414498 | CV1912406 | single nucleotide variant | NM_004177.5(STX3):c.770A>G (p.Gln257Arg) | not provided [RCV002588644] | uncertain significance | 11 | 59795466 | 59795466 | Human | | name |
| 156444954 | CV1949006 | single nucleotide variant | NM_004177.5(STX3):c.346C>T (p.Arg116Trp) | not provided [RCV003115888] | uncertain significance | 11 | 59790575 | 59790575 | Human | | name |
| 156445888 | CV1952139 | single nucleotide variant | NM_004177.5(STX3):c.727G>A (p.Val243Met) | not provided [RCV003116851] | uncertain significance | 11 | 59795423 | 59795423 | Human | | name |
| 156085258 | CV1993124 | single nucleotide variant | NM_004177.5(STX3):c.835G>A (p.Ala279Thr) | Inborn genetic diseases [RCV004966004]|not provided [RCV002639033] | uncertain significance | 11 | 59797331 | 59797331 | Human | 1 | name |
| 156029014 | CV2004810 | single nucleotide variant | NM_004177.5(STX3):c.520C>T (p.Pro174Ser) | not provided [RCV002658577] | uncertain significance | 11 | 59793152 | 59793152 | Human | | name |
| 156018575 | CV2019208 | single nucleotide variant | NM_004177.5(STX3):c.544A>G (p.Ile182Val) | not provided [RCV002690886] | uncertain significance | 11 | 59793383 | 59793383 | Human | | name |
| 156158074 | CV2033672 | single nucleotide variant | NM_004177.5(STX3):c.655G>C (p.Ala219Pro) | Inborn genetic diseases [RCV004681542]|not provided [RCV002741445] | uncertain significance | 11 | 59793494 | 59793494 | Human | 1 | name |
| 155965788 | CV2034240 | single nucleotide variant | NM_004177.5(STX3):c.340C>T (p.Arg114Trp) | not provided [RCV002731387] | uncertain significance | 11 | 59790569 | 59790569 | Human | | name |
| 156110633 | CV2042551 | single nucleotide variant | NM_004177.5(STX3):c.431G>A (p.Arg144His) | not provided [RCV002785384] | uncertain significance | 11 | 59792180 | 59792180 | Human | | name |
| 156296704 | CV2073533 | single nucleotide variant | NM_004177.5(STX3):c.779C>A (p.Ala260Asp) | not provided [RCV002833432] | uncertain significance | 11 | 59795475 | 59795475 | Human | | name |
| 155905716 | CV2134512 | single nucleotide variant | NM_004177.5(STX3):c.748A>C (p.Thr250Pro) | not provided [RCV002967697] | uncertain significance | 11 | 59795444 | 59795444 | Human | | name |
| 156083657 | CV2138364 | single nucleotide variant | NM_004177.5(STX3):c.460G>A (p.Glu154Lys) | not provided [RCV002979347] | uncertain significance | 11 | 59792209 | 59792209 | Human | | name |
| 156230782 | CV2140973 | single nucleotide variant | NM_004177.5(STX3):c.430C>T (p.Arg144Cys) | not provided [RCV003007733] | uncertain significance | 11 | 59792179 | 59792179 | Human | | name |
| 156176874 | CV2144825 | single nucleotide variant | NM_004177.5(STX3):c.655G>A (p.Ala219Thr) | not provided [RCV003005581] | uncertain significance | 11 | 59793494 | 59793494 | Human | | name |
| 155939818 | CV2293978 | single nucleotide variant | NM_004177.5(STX3):c.637G>A (p.Asp213Asn) | Inborn genetic diseases [RCV002879490] | uncertain significance | 11 | 59793476 | 59793476 | Human | 1 | name |
| 405124350 | CV3043338 | single nucleotide variant | NM_004177.5(STX3):c.424C>T (p.Arg142Ter) | not provided [RCV003724224] | pathogenic | 11 | 59792173 | 59792173 | Human | | name |
| 405780791 | CV3331051 | single nucleotide variant | NM_004177.5(STX3):c.364G>C (p.Val122Leu) | Inborn genetic diseases [RCV004458629] | uncertain significance | 11 | 59792113 | 59792113 | Human | 1 | name |
| 405780797 | CV3331052 | single nucleotide variant | NM_004177.5(STX3):c.791T>G (p.Leu264Trp) | Inborn genetic diseases [RCV004458630] | uncertain significance | 11 | 59797287 | 59797287 | Human | 1 | name |
| 405780803 | CV3331053 | single nucleotide variant | NM_004177.5(STX3):c.830T>G (p.Ile277Ser) | Inborn genetic diseases [RCV004458631] | uncertain significance | 11 | 59797326 | 59797326 | Human | 1 | name |
| 407496816 | CV3481739 | single nucleotide variant | NM_004177.5(STX3):c.776A>G (p.Gln259Arg) | Inborn genetic diseases [RCV004668240] | uncertain significance | 11 | 59795472 | 59795472 | Human | 1 | name |
| 597633641 | CV3615189 | single nucleotide variant | NM_004177.5(STX3):c.830T>C (p.Ile277Thr) | Inborn genetic diseases [RCV004969142] | uncertain significance | 11 | 59797326 | 59797326 | Human | 1 | name |
| 598251936 | CV3916107 | single nucleotide variant | NM_004177.5(STX3):c.594C>G (p.His198Gln) | Inborn genetic diseases [RCV005277992] | uncertain significance | 11 | 59793433 | 59793433 | Human | 1 | name |
| 598220447 | CV3916108 | single nucleotide variant | NM_004177.5(STX3):c.415G>A (p.Val139Met) | Inborn genetic diseases [RCV005293491] | uncertain significance | 11 | 59792164 | 59792164 | Human | 1 | name |
| 598220452 | CV3916109 | single nucleotide variant | NM_004177.5(STX3):c.337C>G (p.Leu113Val) | Inborn genetic diseases [RCV005293492] | uncertain significance | 11 | 59790566 | 59790566 | Human | 1 | name |
| 598220457 | CV3916110 | single nucleotide variant | NM_004177.5(STX3):c.850C>T (p.Leu284Phe) | Inborn genetic diseases [RCV005293493] | uncertain significance | 11 | 59797346 | 59797346 | Human | 1 | name |
| 15199102 | CV701819 | single nucleotide variant | NM_004177.5(STX3):c.826G>A (p.Gly276Ser) | not provided [RCV000956946] | benign | 11 | 59797322 | 59797322 | Human | | name |
| 15171128 | CV701820 | single nucleotide variant | NM_004177.5(STX3):c.853T>C (p.Ser285Pro) | not provided [RCV000949776] | benign | 11 | 59797349 | 59797349 | Human | | name |
| 15146716 | CV712900 | single nucleotide variant | NM_004177.5(STX3):c.781C>T (p.Arg261Trp) | not provided [RCV000967206] | benign | 11 | 59795477 | 59795477 | Human | | name |
| 28889620 | CV903579 | single nucleotide variant | NM_004177.5(STX3):c.589C>T (p.Arg197Ter) | not provided [RCV001169904] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 59793428 | 59793428 | Human | | name |
| 127239852 | CV1062382 | microsatellite | NM_004177.5(STX3):c.177_178del (p.Tyr60fs) | Retinal dystrophy and microvillus inclusion disease [RCV001542247]|not provided [RCV001383334] | pathogenic | 11 | 59787097 | 59787098 | Human | | name |
| 150338300 | CV1173959 | microsatellite | NM_004177.5(STX3):c.372_373dup (p.Arg125fs) | Retinal dystrophy and microvillus inclusion disease [RCV001542244] | pathogenic | 11 | 59792118 | 59792119 | Human | | name |
| 402488118 | CV2856419 | deletion | NM_004177.5(STX3):c.718_725del (p.Val240fs) | not provided [RCV003572737] | pathogenic | 11 | 59795412 | 59795419 | Human | | name |
| 8634219 | CV89437 | single nucleotide variant | NM_001178040.1(STX3):c.353C>T (p.Ser118Phe) | Malignant melanoma [RCV000069534] | not provided | 11 | 59790582 | 59790582 | Human | | name |
| 150338301 | CV1173960 | indel | NM_004177.5(STX3):c.363_366delinsGA (p.Val122fs) | Retinal dystrophy and microvillus inclusion disease [RCV001542245] | pathogenic | 11 | 59792112 | 59792115 | Human | | name |
| 151856663 | CV1470063 | indel | NM_004177.5(STX3):c.663_664delinsAT (p.Val222Leu) | not provided [RCV001883413] | uncertain significance | 11 | 59793502 | 59793503 | Human | | name |