| 15182100 | CV744028 | single nucleotide variant | NM_001009921.3(VPS8):c.354-10T>C | not provided [RCV000907742] | likely benign | 3 | 184834639 | 184834639 | Human | | name |
| 15170832 | CV759241 | single nucleotide variant | NM_001009921.3(VPS8):c.2988+7A>G | not provided [RCV000927778] | likely benign | 3 | 184936342 | 184936342 | Human | | name |
| 150507385 | CV1256920 | deletion | NM_001009921.3(VPS8):c.3036-13_3036-9del | not provided [RCV001678423] | benign | 3 | 184957360 | 184957364 | Human | | name |
| 407532632 | CV3491461 | single nucleotide variant | NM_001009921.3(VPS8):c.20A>G (p.His7Arg) | not specified [RCV004683277] | uncertain significance | 3 | 184824652 | 184824652 | Human | | name |
| 156142126 | CV2383751 | single nucleotide variant | NM_001009921.3(VPS8):c.58G>A (p.Glu20Lys) | not specified [RCV004231630] | uncertain significance | 3 | 184824690 | 184824690 | Human | | name |
| 597699265 | CV3626688 | single nucleotide variant | NM_001009921.3(VPS8):c.53C>G (p.Thr18Arg) | not specified [RCV004885499] | uncertain significance | 3 | 184824685 | 184824685 | Human | | name |
| 15202582 | CV748141 | single nucleotide variant | NM_001009921.3(VPS8):c.759A>G (p.Thr253=) | not provided [RCV000913470] | likely benign | 3 | 184852505 | 184852505 | Human | | name |
| 156066171 | CV2225478 | single nucleotide variant | NM_001009921.3(VPS8):c.193C>T (p.Pro65Ser) | not specified [RCV004100872] | uncertain significance | 3 | 184826202 | 184826202 | Human | | name |
| 156248813 | CV2277039 | single nucleotide variant | NM_001009921.3(VPS8):c.284T>C (p.Ile95Thr) | not specified [RCV004140359] | uncertain significance | 3 | 184832750 | 184832750 | Human | | name |
| 156241872 | CV2310304 | single nucleotide variant | NM_001009921.3(VPS8):c.275T>C (p.Ile92Thr) | not specified [RCV004157046] | uncertain significance | 3 | 184832741 | 184832741 | Human | | name |
| 405663077 | CV3342222 | single nucleotide variant | NM_001009921.3(VPS8):c.162C>G (p.Asp54Glu) | not specified [RCV004484918] | uncertain significance | 3 | 184826171 | 184826171 | Human | | name |
| 15196313 | CV697965 | single nucleotide variant | NM_001009921.3(VPS8):c.1140A>G (p.Leu380=) | not provided [RCV000956159] | benign | 3 | 184855815 | 184855815 | Human | | name |
| 15107773 | CV720329 | single nucleotide variant | NM_001009921.3(VPS8):c.2412A>G (p.Gln804=) | not provided [RCV000893547] | benign | 3 | 184920156 | 184920156 | Human | | name |
| 8630718 | CV85873 | single nucleotide variant | NM_001009921.2(VPS8):c.2586C>T (p.Phe862=) | Malignant melanoma [RCV000065957] | not provided | 3 | 184926605 | 184926605 | Human | | name |
| 156291371 | CV2306065 | single nucleotide variant | NM_001009921.3(VPS8):c.674T>A (p.Met225Lys) | not specified [RCV004161041] | uncertain significance | 3 | 184849943 | 184849943 | Human | | name |
| 156051409 | CV2323343 | single nucleotide variant | NM_001009921.3(VPS8):c.716A>G (p.Asp239Gly) | not specified [RCV004171751] | uncertain significance | 3 | 184849985 | 184849985 | Human | | name |
| 156304077 | CV2359515 | single nucleotide variant | NM_001009921.3(VPS8):c.589G>A (p.Gly197Ser) | not specified [RCV004214824] | uncertain significance | 3 | 184849118 | 184849118 | Human | | name |
| 156016980 | CV2370026 | single nucleotide variant | NM_001009921.3(VPS8):c.709A>G (p.Ile237Val) | not specified [RCV004210924] | uncertain significance | 3 | 184849978 | 184849978 | Human | | name |
| 156384285 | CV2371371 | single nucleotide variant | NM_001009921.3(VPS8):c.772C>G (p.Leu258Val) | not specified [RCV004223372] | uncertain significance | 3 | 184852518 | 184852518 | Human | | name |
| 156346327 | CV2382731 | single nucleotide variant | NM_001009921.3(VPS8):c.400C>T (p.Arg134Cys) | not specified [RCV004224081] | uncertain significance | 3 | 184834695 | 184834695 | Human | | name |
| 156162887 | CV2389506 | single nucleotide variant | NM_001009921.3(VPS8):c.905A>G (p.His302Arg) | not specified [RCV004243585] | uncertain significance | 3 | 184853940 | 184853940 | Human | | name |
| 156227812 | CV2392799 | single nucleotide variant | NM_001009921.3(VPS8):c.623A>G (p.Asn208Ser) | not specified [RCV004247160] | uncertain significance | 3 | 184849152 | 184849152 | Human | | name |
| 156219151 | CV2393561 | single nucleotide variant | NM_001009921.3(VPS8):c.913C>G (p.Pro305Ala) | not specified [RCV004231379] | uncertain significance | 3 | 184853948 | 184853948 | Human | | name |
| 329392725 | CV2471426 | single nucleotide variant | NM_001009921.3(VPS8):c.371A>G (p.Asp124Gly) | not specified [RCV004280427] | uncertain significance | 3 | 184834666 | 184834666 | Human | | name |
| 401730886 | CV2674187 | single nucleotide variant | NM_001009921.3(VPS8):c.757A>T (p.Thr253Ser) | not specified [RCV004289082] | uncertain significance | 3 | 184852503 | 184852503 | Human | | name |
| 401927623 | CV2825112 | single nucleotide variant | NM_001009921.3(VPS8):c.3435G>A (p.Pro1145=) | not provided [RCV003439075] | likely benign | 3 | 184982580 | 184982580 | Human | | name |
| 405663121 | CV3342231 | single nucleotide variant | NM_001009921.3(VPS8):c.3441G>A (p.Leu1147=) | not specified [RCV004484927] | likely benign | 3 | 184982586 | 184982586 | Human | | name |
| 405663139 | CV3342235 | single nucleotide variant | NM_001009921.3(VPS8):c.712A>G (p.Thr238Ala) | not specified [RCV004484931] | uncertain significance | 3 | 184849981 | 184849981 | Human | | name |
| 405663144 | CV3342236 | single nucleotide variant | NM_001009921.3(VPS8):c.833G>C (p.Gly278Ala) | not specified [RCV004484932] | uncertain significance | 3 | 184853868 | 184853868 | Human | | name |
| 405663149 | CV3342237 | single nucleotide variant | NM_001009921.3(VPS8):c.863T>G (p.Phe288Cys) | not specified [RCV004484933] | uncertain significance | 3 | 184853898 | 184853898 | Human | | name |
| 407465029 | CV3491464 | single nucleotide variant | NM_001009921.3(VPS8):c.401G>A (p.Arg134His) | not specified [RCV004688665] | uncertain significance | 3 | 184834696 | 184834696 | Human | | name |
| 597699256 | CV3626681 | single nucleotide variant | NM_001009921.3(VPS8):c.566G>T (p.Cys189Phe) | not specified [RCV004885498] | uncertain significance | 3 | 184849095 | 184849095 | Human | | name |
| 597686774 | CV3626685 | single nucleotide variant | NM_001009921.3(VPS8):c.689G>C (p.Ser230Thr) | not specified [RCV004884210] | uncertain significance | 3 | 184849958 | 184849958 | Human | | name |
| 597686838 | CV3626693 | single nucleotide variant | NM_001009921.3(VPS8):c.546G>C (p.Gln182His) | not specified [RCV004884217] | uncertain significance | 3 | 184849075 | 184849075 | Human | | name |
| 598217748 | CV3926083 | single nucleotide variant | NM_001009921.3(VPS8):c.934A>G (p.Ile312Val) | not specified [RCV005293079] | uncertain significance | 3 | 184853969 | 184853969 | Human | | name |
| 598255824 | CV3926085 | single nucleotide variant | NM_001009921.3(VPS8):c.529A>G (p.Ile177Val) | not specified [RCV005299497] | uncertain significance | 3 | 184839746 | 184839746 | Human | | name |
| 155982424 | CV2208766 | single nucleotide variant | NM_001009921.3(VPS8):c.2203G>C (p.Gly735Arg) | not specified [RCV004084951] | uncertain significance | 3 | 184914994 | 184914994 | Human | | name |
| 156332344 | CV2220665 | single nucleotide variant | NM_001009921.3(VPS8):c.2110A>G (p.Ile704Val) | not specified [RCV004097842] | uncertain significance | 3 | 184900936 | 184900936 | Human | | name |
| 155970609 | CV2262257 | single nucleotide variant | NM_001009921.3(VPS8):c.1861C>A (p.Pro621Thr) | not specified [RCV004128465] | uncertain significance | 3 | 184894782 | 184894782 | Human | | name |
| 155984411 | CV2270591 | single nucleotide variant | NM_001009921.3(VPS8):c.2863C>G (p.Gln955Glu) | not specified [RCV004137813] | uncertain significance | 3 | 184930533 | 184930533 | Human | | name |
| 155903259 | CV2301610 | single nucleotide variant | NM_001009921.3(VPS8):c.1949A>C (p.Glu650Ala) | not specified [RCV004162516] | uncertain significance | 3 | 184894870 | 184894870 | Human | | name |
| 156102018 | CV2313531 | single nucleotide variant | NM_001009921.3(VPS8):c.1274A>G (p.His425Arg) | not specified [RCV004163830] | uncertain significance | 3 | 184862946 | 184862946 | Human | | name |
| 156269557 | CV2315009 | single nucleotide variant | NM_001009921.3(VPS8):c.2795G>A (p.Arg932Gln) | not specified [RCV004164928] | uncertain significance | 3 | 184929660 | 184929660 | Human | | name |
| 156034316 | CV2338663 | single nucleotide variant | NM_001009921.3(VPS8):c.1034G>A (p.Arg345Gln) | not specified [RCV004182242] | uncertain significance | 3 | 184854172 | 184854172 | Human | | name |
| 156364446 | CV2342006 | single nucleotide variant | NM_001009921.3(VPS8):c.2675A>G (p.Glu892Gly) | not specified [RCV004184945] | uncertain significance | 3 | 184928494 | 184928494 | Human | | name |
| 155995090 | CV2374878 | single nucleotide variant | NM_001009921.3(VPS8):c.1228A>G (p.Ile410Val) | not specified [RCV004227904] | uncertain significance | 3 | 184862900 | 184862900 | Human | | name |
| 156391275 | CV2385227 | single nucleotide variant | NM_001009921.3(VPS8):c.1817G>C (p.Ser606Thr) | not specified [RCV004228473] | uncertain significance | 3 | 184894738 | 184894738 | Human | | name |
| 329381052 | CV2464473 | single nucleotide variant | NM_001009921.3(VPS8):c.2687T>A (p.Leu896His) | not specified [RCV004276394] | uncertain significance | 3 | 184928506 | 184928506 | Human | | name |
| 401762397 | CV2714126 | single nucleotide variant | NM_001009921.3(VPS8):c.2016G>T (p.Met672Ile) | not specified [RCV004317380] | uncertain significance | 3 | 184898576 | 184898576 | Human | | name |
| 401783560 | CV2723708 | single nucleotide variant | NM_001009921.3(VPS8):c.2588T>G (p.Leu863Arg) | not specified [RCV004325875] | uncertain significance | 3 | 184926607 | 184926607 | Human | | name |
| 401862554 | CV2768383 | single nucleotide variant | NM_001009921.3(VPS8):c.2102T>G (p.Phe701Cys) | not specified [RCV004350634] | uncertain significance | 3 | 184900928 | 184900928 | Human | | name |
| 401865708 | CV2778901 | single nucleotide variant | NM_001009921.3(VPS8):c.2572C>G (p.Gln858Glu) | not specified [RCV004346782] | uncertain significance | 3 | 184924979 | 184924979 | Human | | name |
| 405277452 | CV3195821 | single nucleotide variant | NM_001009921.3(VPS8):c.2917C>G (p.Pro973Ala) | VPS8-related disorder [RCV003904351] | likely benign | 3 | 184936264 | 184936264 | Human | | name , trait , alternate_id |
| 405266513 | CV3213189 | single nucleotide variant | NM_001009921.3(VPS8):c.2044A>G (p.Met682Val) | VPS8-related disorder [RCV003969334] | likely benign | 3 | 184898604 | 184898604 | Human | | name , trait , alternate_id |
| 405663072 | CV3342221 | single nucleotide variant | NM_001009921.3(VPS8):c.1295A>G (p.Gln432Arg) | not specified [RCV004484917] | uncertain significance | 3 | 184862967 | 184862967 | Human | | name |
| 405663082 | CV3342223 | single nucleotide variant | NM_001009921.3(VPS8):c.1690T>C (p.Cys564Arg) | not specified [RCV004484919] | uncertain significance | 3 | 184870761 | 184870761 | Human | | name |
| 405663087 | CV3342224 | single nucleotide variant | NM_001009921.3(VPS8):c.2162T>C (p.Met721Thr) | not specified [RCV004484920] | uncertain significance | 3 | 184913534 | 184913534 | Human | | name |
| 405663092 | CV3342225 | single nucleotide variant | NM_001009921.3(VPS8):c.2492T>C (p.Val831Ala) | not specified [RCV004484921] | uncertain significance | 3 | 184924899 | 184924899 | Human | | name |
| 405663096 | CV3342226 | single nucleotide variant | NM_001009921.3(VPS8):c.2603A>G (p.Asp868Gly) | not specified [RCV004484922] | uncertain significance | 3 | 184926622 | 184926622 | Human | | name |
| 405663102 | CV3342227 | single nucleotide variant | NM_001009921.3(VPS8):c.2881G>A (p.Ala961Thr) | not specified [RCV004484923] | uncertain significance | 3 | 184930551 | 184930551 | Human | | name |
| 405663918 | CV3342228 | single nucleotide variant | NM_001009921.3(VPS8):c.2951T>A (p.Phe984Tyr) | not specified [RCV004484924] | uncertain significance | 3 | 184936298 | 184936298 | Human | | name |
| 407465024 | CV3491460 | single nucleotide variant | NM_001009921.3(VPS8):c.2063G>C (p.Arg688Thr) | not specified [RCV004688664] | uncertain significance | 3 | 184898623 | 184898623 | Human | | name |
| 407532633 | CV3491462 | single nucleotide variant | NM_001009921.3(VPS8):c.2761A>G (p.Lys921Glu) | not specified [RCV004683278] | uncertain significance | 3 | 184929626 | 184929626 | Human | | name |
| 407532635 | CV3491465 | single nucleotide variant | NM_001009921.3(VPS8):c.2816A>G (p.Tyr939Cys) | not specified [RCV004683280] | uncertain significance | 3 | 184930486 | 184930486 | Human | | name |
| 407532637 | CV3491467 | single nucleotide variant | NM_001009921.3(VPS8):c.1613C>A (p.Ala538Asp) | not specified [RCV004683282] | uncertain significance | 3 | 184869497 | 184869497 | Human | | name |
| 407465033 | CV3491468 | single nucleotide variant | NM_001009921.3(VPS8):c.2070G>A (p.Met690Ile) | not specified [RCV004688666] | uncertain significance | 3 | 184898630 | 184898630 | Human | | name |
| 407450419 | CV3491469 | single nucleotide variant | NM_001009921.3(VPS8):c.2206C>A (p.Arg736Ser) | not specified [RCV004683283] | uncertain significance | 3 | 184914997 | 184914997 | Human | | name |
| 407450420 | CV3491470 | single nucleotide variant | NM_001009921.3(VPS8):c.2625A>T (p.Arg875Ser) | not specified [RCV004683284] | uncertain significance | 3 | 184926644 | 184926644 | Human | | name |
| 597699213 | CV3626671 | single nucleotide variant | NM_001009921.3(VPS8):c.1835A>G (p.Lys612Arg) | not specified [RCV004885493] | uncertain significance | 3 | 184894756 | 184894756 | Human | | name |
| 597686699 | CV3626672 | single nucleotide variant | NM_001009921.3(VPS8):c.1739T>C (p.Met580Thr) | not specified [RCV004884202] | likely benign | 3 | 184886114 | 184886114 | Human | | name |
| 597699222 | CV3626675 | single nucleotide variant | NM_001009921.3(VPS8):c.2333G>T (p.Arg778Leu) | not specified [RCV004885494] | uncertain significance | 3 | 184915425 | 184915425 | Human | | name |
| 597686725 | CV3626676 | single nucleotide variant | NM_001009921.3(VPS8):c.1676G>A (p.Arg559Gln) | not specified [RCV004884205] | uncertain significance | 3 | 184870747 | 184870747 | Human | | name |
| 597699239 | CV3626679 | single nucleotide variant | NM_001009921.3(VPS8):c.2815T>A (p.Tyr939Asn) | not specified [RCV004885496] | uncertain significance | 3 | 184930485 | 184930485 | Human | | name |
| 597686755 | CV3626683 | single nucleotide variant | NM_001009921.3(VPS8):c.1477T>C (p.Tyr493His) | not specified [RCV004884208] | uncertain significance | 3 | 184868030 | 184868030 | Human | | name |
| 597686783 | CV3626686 | single nucleotide variant | NM_001009921.3(VPS8):c.1678G>A (p.Ala560Thr) | not specified [RCV004884211] | uncertain significance | 3 | 184870749 | 184870749 | Human | | name |
| 597686792 | CV3626687 | single nucleotide variant | NM_001009921.3(VPS8):c.1515T>A (p.Asp505Glu) | not specified [RCV004884212] | uncertain significance | 3 | 184868954 | 184868954 | Human | | name |
| 597686800 | CV3626689 | single nucleotide variant | NM_001009921.3(VPS8):c.1642C>T (p.Arg548Trp) | not specified [RCV004884213] | uncertain significance | 3 | 184869526 | 184869526 | Human | | name |
| 597686810 | CV3626690 | single nucleotide variant | NM_001009921.3(VPS8):c.1826C>T (p.Ser609Leu) | not specified [RCV004884214] | uncertain significance | 3 | 184894747 | 184894747 | Human | | name |
| 597686820 | CV3626691 | single nucleotide variant | NM_001009921.3(VPS8):c.2235A>C (p.Glu745Asp) | not specified [RCV004884215] | uncertain significance | 3 | 184915026 | 184915026 | Human | | name |
| 597686845 | CV3626694 | single nucleotide variant | NM_001009921.3(VPS8):c.2602G>A (p.Asp868Asn) | not specified [RCV004884218] | uncertain significance | 3 | 184926621 | 184926621 | Human | | name |
| 598255792 | CV3926078 | single nucleotide variant | NM_001009921.3(VPS8):c.1285C>T (p.Arg429Trp) | not specified [RCV005299491] | uncertain significance | 3 | 184862957 | 184862957 | Human | | name |
| 598255798 | CV3926079 | single nucleotide variant | NM_001009921.3(VPS8):c.2030G>A (p.Arg677His) | not specified [RCV005299492] | uncertain significance | 3 | 184898590 | 184898590 | Human | | name |
| 598255803 | CV3926080 | single nucleotide variant | NM_001009921.3(VPS8):c.1687A>G (p.Lys563Glu) | not specified [RCV005299493] | uncertain significance | 3 | 184870758 | 184870758 | Human | | name |
| 598255808 | CV3926081 | single nucleotide variant | NM_001009921.3(VPS8):c.2540A>G (p.Asn847Ser) | not specified [RCV005299494] | uncertain significance | 3 | 184924947 | 184924947 | Human | | name |
| 598217756 | CV3926086 | single nucleotide variant | NM_001009921.3(VPS8):c.2830T>A (p.Leu944Ile) | not specified [RCV005293080] | uncertain significance | 3 | 184930500 | 184930500 | Human | | name |
| 598255829 | CV3926087 | single nucleotide variant | NM_001009921.3(VPS8):c.2148T>A (p.Asp716Glu) | not specified [RCV005299498] | uncertain significance | 3 | 184913520 | 184913520 | Human | | name |
| 15100338 | CV720328 | single nucleotide variant | NM_001009921.3(VPS8):c.1747G>A (p.Val583Ile) | VPS8-related disorder [RCV003910607]|not provided [RCV000892090] | likely benign | 3 | 184886122 | 184886122 | Human | | name , trait , alternate_id |
| 15176057 | CV720330 | single nucleotide variant | NM_001009921.3(VPS8):c.2857G>A (p.Glu953Lys) | not provided [RCV000884502] | benign | 3 | 184930527 | 184930527 | Human | 1 | name |
| 15176057 | CV720330 | single nucleotide variant | NM_001009921.3(VPS8):c.2857G>A (p.Glu953Lys) | not provided [RCV000884502] | benign | 3 | 184930527 | 184930528 | Human | 1 | name |
| 156120149 | CV2219326 | single nucleotide variant | NM_001009921.3(VPS8):c.3121C>G (p.Pro1041Ala) | not specified [RCV004095173] | uncertain significance | 3 | 184957459 | 184957459 | Human | | name |
| 155935033 | CV2225479 | single nucleotide variant | NM_001009921.3(VPS8):c.3068A>G (p.Gln1023Arg) | not specified [RCV004100873] | uncertain significance | 3 | 184957406 | 184957406 | Human | | name |
| 156120891 | CV2226966 | single nucleotide variant | NM_001009921.3(VPS8):c.3802C>A (p.Arg1268Ser) | not specified [RCV004097362] | uncertain significance | 3 | 184996467 | 184996467 | Human | | name |
| 156251140 | CV2232271 | single nucleotide variant | NM_001009921.3(VPS8):c.4114C>T (p.Arg1372Cys) | not specified [RCV004105054] | uncertain significance | 3 | 185048536 | 185048536 | Human | | name |
| 155912588 | CV2245586 | single nucleotide variant | NM_001009921.3(VPS8):c.4051A>G (p.Lys1351Glu) | not specified [RCV004109662] | uncertain significance | 3 | 185024384 | 185024384 | Human | | name |
| 155991232 | CV2255638 | single nucleotide variant | NM_001009921.3(VPS8):c.3937A>G (p.Asn1313Asp) | not specified [RCV004120045] | uncertain significance | 3 | 184999796 | 184999796 | Human | | name |
| 156092625 | CV2256687 | single nucleotide variant | NM_001009921.3(VPS8):c.3668C>T (p.Thr1223Ile) | not specified [RCV004118862] | uncertain significance | 3 | 184996333 | 184996333 | Human | | name |
| 156114707 | CV2264096 | single nucleotide variant | NM_001009921.3(VPS8):c.3478G>C (p.Ala1160Pro) | not specified [RCV004138106] | uncertain significance | 3 | 184982623 | 184982623 | Human | | name |
| 155907368 | CV2276360 | single nucleotide variant | NM_001009921.3(VPS8):c.3553G>A (p.Ala1185Thr) | not specified [RCV004144101] | uncertain significance | 3 | 184983062 | 184983062 | Human | | name |
| 156274100 | CV2320232 | single nucleotide variant | NM_001009921.3(VPS8):c.4277C>A (p.Thr1426Asn) | not specified [RCV004169850] | uncertain significance | 3 | 185052015 | 185052015 | Human | | name |
| 156289229 | CV2333090 | single nucleotide variant | NM_001009921.3(VPS8):c.3912G>T (p.Trp1304Cys) | not specified [RCV004194385] | uncertain significance | 3 | 184999771 | 184999771 | Human | | name |
| 156079839 | CV2337385 | single nucleotide variant | NM_001009921.3(VPS8):c.3383A>G (p.Gln1128Arg) | not specified [RCV004187830] | uncertain significance | 3 | 184971715 | 184971715 | Human | | name |
| 156281354 | CV2338454 | single nucleotide variant | NM_001009921.3(VPS8):c.3289C>T (p.Leu1097Phe) | not specified [RCV004186496] | uncertain significance | 3 | 184966686 | 184966686 | Human | | name |
| 156260391 | CV2359270 | single nucleotide variant | NM_001009921.3(VPS8):c.3826A>G (p.Ile1276Val) | not specified [RCV004212558] | uncertain significance | 3 | 184996491 | 184996491 | Human | | name |
| 156055413 | CV2361387 | single nucleotide variant | NM_001009921.3(VPS8):c.3164G>A (p.Arg1055His) | not specified [RCV004218589] | uncertain significance | 3 | 184957502 | 184957502 | Human | | name |
| 155985326 | CV2368089 | single nucleotide variant | NM_001009921.3(VPS8):c.3406C>G (p.Gln1136Glu) | not specified [RCV004216441] | uncertain significance | 3 | 184971738 | 184971738 | Human | | name |
| 156260621 | CV2381186 | single nucleotide variant | NM_001009921.3(VPS8):c.3019A>C (p.Ser1007Arg) | not specified [RCV004227258] | uncertain significance | 3 | 184940227 | 184940227 | Human | | name |
| 156068682 | CV2381187 | single nucleotide variant | NM_001009921.3(VPS8):c.3020G>T (p.Ser1007Ile) | not specified [RCV004227259] | uncertain significance | 3 | 184940228 | 184940228 | Human | | name |
| 329369225 | CV2450573 | single nucleotide variant | NM_001009921.3(VPS8):c.3856T>C (p.Ser1286Pro) | not specified [RCV004265475] | uncertain significance | 3 | 184999715 | 184999715 | Human | | name |
| 329390265 | CV2453833 | single nucleotide variant | NM_001009921.3(VPS8):c.3523C>G (p.Gln1175Glu) | not specified [RCV004271234] | uncertain significance | 3 | 184983032 | 184983032 | Human | | name |
| 401731017 | CV2686838 | single nucleotide variant | NM_001009921.3(VPS8):c.3097A>G (p.Ile1033Val) | not specified [RCV004302018] | uncertain significance | 3 | 184957435 | 184957435 | Human | | name |
| 401731155 | CV2693632 | single nucleotide variant | NM_001009921.3(VPS8):c.3617A>G (p.Glu1206Gly) | not specified [RCV004297970] | uncertain significance | 3 | 184994014 | 184994014 | Human | | name |
| 401742401 | CV2697768 | single nucleotide variant | NM_001009921.3(VPS8):c.4058G>A (p.Gly1353Glu) | not specified [RCV004300494] | uncertain significance | 3 | 185048480 | 185048480 | Human | | name |
| 401734432 | CV2709500 | single nucleotide variant | NM_001009921.3(VPS8):c.4214C>T (p.Pro1405Leu) | not specified [RCV004318741] | uncertain significance | 3 | 185051952 | 185051952 | Human | | name |
| 401731003 | CV2711608 | single nucleotide variant | NM_001009921.3(VPS8):c.4179G>C (p.Glu1393Asp) | not specified [RCV004306911] | likely benign | 3 | 185051917 | 185051917 | Human | | name |
| 401884437 | CV2789683 | single nucleotide variant | NM_001009921.3(VPS8):c.3596A>G (p.Tyr1199Cys) | not specified [RCV004360274] | uncertain significance | 3 | 184993993 | 184993993 | Human | | name |
| 401892782 | CV2791785 | single nucleotide variant | NM_001009921.3(VPS8):c.3971A>T (p.Glu1324Val) | not specified [RCV004353103] | uncertain significance | 3 | 184999830 | 184999830 | Human | | name |
| 405663111 | CV3342229 | single nucleotide variant | NM_001009921.3(VPS8):c.3227T>C (p.Leu1076Ser) | not specified [RCV004484925] | uncertain significance | 3 | 184964511 | 184964511 | Human | | name |
| 405663115 | CV3342230 | single nucleotide variant | NM_001009921.3(VPS8):c.3434C>T (p.Pro1145Leu) | not specified [RCV004484926] | uncertain significance | 3 | 184982579 | 184982579 | Human | | name |
| 405663124 | CV3342232 | single nucleotide variant | NM_001009921.3(VPS8):c.3499G>A (p.Glu1167Lys) | not specified [RCV004484928] | uncertain significance | 3 | 184982644 | 184982644 | Human | | name |
| 405663130 | CV3342233 | single nucleotide variant | NM_001009921.3(VPS8):c.3596A>T (p.Tyr1199Phe) | not specified [RCV004484929] | uncertain significance | 3 | 184993993 | 184993993 | Human | | name |
| 405663134 | CV3342234 | single nucleotide variant | NM_001009921.3(VPS8):c.3981G>C (p.Lys1327Asn) | not specified [RCV004484930] | uncertain significance | 3 | 184999840 | 184999840 | Human | | name |
| 407532631 | CV3491459 | single nucleotide variant | NM_001009921.3(VPS8):c.4202C>T (p.Ser1401Leu) | not specified [RCV004683276] | uncertain significance | 3 | 185051940 | 185051940 | Human | | name |
| 407532634 | CV3491463 | single nucleotide variant | NM_001009921.3(VPS8):c.3518C>T (p.Thr1173Ile) | not specified [RCV004683279] | uncertain significance | 3 | 184983027 | 184983027 | Human | | name |
| 407532636 | CV3491466 | single nucleotide variant | NM_001009921.3(VPS8):c.3215C>T (p.Thr1072Ile) | not specified [RCV004683281] | uncertain significance | 3 | 184964499 | 184964499 | Human | | name |
| 597686708 | CV3626673 | single nucleotide variant | NM_001009921.3(VPS8):c.4168C>T (p.Arg1390Cys) | not specified [RCV004884203] | uncertain significance | 3 | 185051906 | 185051906 | Human | | name |
| 597686718 | CV3626674 | single nucleotide variant | NM_001009921.3(VPS8):c.3160T>C (p.Tyr1054His) | not specified [RCV004884204] | uncertain significance | 3 | 184957498 | 184957498 | Human | | name |
| 597686735 | CV3626677 | single nucleotide variant | NM_001009921.3(VPS8):c.3134T>C (p.Ile1045Thr) | not specified [RCV004884206] | uncertain significance | 3 | 184957472 | 184957472 | Human | | name |
| 597699230 | CV3626678 | single nucleotide variant | NM_001009921.3(VPS8):c.3533A>G (p.Asn1178Ser) | not specified [RCV004885495] | uncertain significance | 3 | 184983042 | 184983042 | Human | | name |
| 597699248 | CV3626680 | single nucleotide variant | NM_001009921.3(VPS8):c.3329A>T (p.Asp1110Val) | not specified [RCV004885497] | uncertain significance | 3 | 184971661 | 184971661 | Human | | name |
| 597686746 | CV3626682 | single nucleotide variant | NM_001009921.3(VPS8):c.3719T>C (p.Leu1240Ser) | not specified [RCV004884207] | uncertain significance | 3 | 184996384 | 184996384 | Human | | name |
| 597686765 | CV3626684 | single nucleotide variant | NM_001009921.3(VPS8):c.3991A>G (p.Thr1331Ala) | not specified [RCV004884209] | uncertain significance | 3 | 184999850 | 184999850 | Human | | name |
| 597686829 | CV3626692 | single nucleotide variant | NM_001009921.3(VPS8):c.4081C>T (p.Pro1361Ser) | not specified [RCV004884216] | uncertain significance | 3 | 185048503 | 185048503 | Human | | name |
| 598255814 | CV3926082 | single nucleotide variant | NM_001009921.3(VPS8):c.3214A>G (p.Thr1072Ala) | not specified [RCV005299495] | uncertain significance | 3 | 184964498 | 184964498 | Human | | name |
| 598255819 | CV3926084 | single nucleotide variant | NM_001009921.3(VPS8):c.4121A>G (p.Tyr1374Cys) | not specified [RCV005299496] | uncertain significance | 3 | 185048543 | 185048543 | Human | | name |
| 598255834 | CV3926088 | single nucleotide variant | NM_001009921.3(VPS8):c.3172G>C (p.Glu1058Gln) | not specified [RCV005299499] | uncertain significance | 3 | 184957510 | 184957510 | Human | | name |
| 15187075 | CV697966 | single nucleotide variant | NM_001009921.3(VPS8):c.4115G>A (p.Arg1372His) | not provided [RCV000953479] | benign | 3 | 185048537 | 185048537 | Human | | name |
| 25317017 | CV804998 | single nucleotide variant | NM_001009921.3(VPS8):c.3130G>A (p.Val1044Ile) | Flexion contracture [RCV001007776] | uncertain significance | 3 | 184957468 | 184957468 | Human | 2 | name |