| 405285791 | CV3209716 | single nucleotide variant | NM_022078.3(GPATCH3):c.451+3A>G | GPATCH3-related disorder [RCV003959282] | likely benign | 1 | 26899989 | 26899989 | Human | | name , trait , alternate_id |
| 156346198 | CV2305215 | single nucleotide variant | NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln) | not specified [RCV004171148] | uncertain significance | 1 | 26900418 | 26900418 | Human | | name |
| 8629466 | CV84613 | single nucleotide variant | NM_022078.2(GPATCH3):c.135C>T (p.Leu45=) | Malignant melanoma [RCV000064695] | not provided | 1 | 26900308 | 26900308 | Human | | name |
| 155930070 | CV2354086 | single nucleotide variant | NM_022078.3(GPATCH3):c.62C>A (p.Pro21His) | not specified [RCV004206525] | uncertain significance | 1 | 26900381 | 26900381 | Human | | name |
| 401871856 | CV2783619 | single nucleotide variant | NM_022078.3(GPATCH3):c.79G>T (p.Ala27Ser) | not specified [RCV004365934] | uncertain significance | 1 | 26900364 | 26900364 | Human | | name |
| 405287468 | CV3210693 | single nucleotide variant | NM_022078.3(GPATCH3):c.636C>T (p.Pro212=) | GPATCH3-related disorder [RCV003924455] | likely benign | 1 | 26897541 | 26897541 | Human | | name , trait , alternate_id |
| 597789333 | CV3688370 | single nucleotide variant | NM_022078.3(GPATCH3):c.74G>A (p.Arg25His) | not specified [RCV004932940] | uncertain significance | 1 | 26900369 | 26900369 | Human | | name |
| 156131731 | CV2206423 | single nucleotide variant | NM_022078.3(GPATCH3):c.104A>G (p.Gln35Arg) | not specified [RCV004078745] | uncertain significance | 1 | 26900339 | 26900339 | Human | | name |
| 156330968 | CV2210735 | single nucleotide variant | NM_022078.3(GPATCH3):c.177G>T (p.Gln59His) | not specified [RCV004085833] | uncertain significance | 1 | 26900266 | 26900266 | Human | | name |
| 156132627 | CV2280088 | single nucleotide variant | NM_022078.3(GPATCH3):c.205A>G (p.Thr69Ala) | not specified [RCV004146443] | uncertain significance | 1 | 26900238 | 26900238 | Human | | name |
| 405279842 | CV3191499 | single nucleotide variant | NM_022078.3(GPATCH3):c.1386A>G (p.Pro462=) | GPATCH3-related disorder [RCV003919650] | likely benign | 1 | 26891202 | 26891202 | Human | | name , trait , alternate_id |
| 405255989 | CV3208478 | single nucleotide variant | NM_022078.3(GPATCH3):c.1380A>G (p.Leu460=) | GPATCH3-related disorder [RCV003939569] | likely benign | 1 | 26891208 | 26891208 | Human | | name , trait , alternate_id |
| 407525787 | CV3439940 | single nucleotide variant | NM_022078.3(GPATCH3):c.106T>C (p.Phe36Leu) | not specified [RCV004632219] | uncertain significance | 1 | 26900337 | 26900337 | Human | | name |
| 597789328 | CV3688368 | single nucleotide variant | NM_022078.3(GPATCH3):c.149G>T (p.Arg50Leu) | not specified [RCV004932939] | uncertain significance | 1 | 26900294 | 26900294 | Human | | name |
| 597733383 | CV3688369 | single nucleotide variant | NM_022078.3(GPATCH3):c.115G>A (p.Glu39Lys) | not specified [RCV004920108] | uncertain significance | 1 | 26900328 | 26900328 | Human | | name |
| 155964237 | CV2194273 | single nucleotide variant | NM_022078.3(GPATCH3):c.860A>T (p.Glu287Val) | not specified [RCV004079391] | uncertain significance | 1 | 26897317 | 26897317 | Human | | name |
| 156270741 | CV2195181 | single nucleotide variant | NM_022078.3(GPATCH3):c.928G>A (p.Val310Met) | not specified [RCV004080126] | uncertain significance | 1 | 26894359 | 26894359 | Human | | name |
| 156132962 | CV2195917 | single nucleotide variant | NM_022078.3(GPATCH3):c.545C>T (p.Pro182Leu) | not specified [RCV004072176] | uncertain significance | 1 | 26897632 | 26897632 | Human | | name |
| 155965321 | CV2206424 | single nucleotide variant | NM_022078.3(GPATCH3):c.598C>T (p.Arg200Trp) | not specified [RCV004078746] | uncertain significance | 1 | 26897579 | 26897579 | Human | | name |
| 156387260 | CV2221457 | single nucleotide variant | NM_022078.3(GPATCH3):c.619C>T (p.Arg207Trp) | not specified [RCV004096740] | uncertain significance | 1 | 26897558 | 26897558 | Human | | name |
| 156017215 | CV2266677 | single nucleotide variant | NM_022078.3(GPATCH3):c.760G>A (p.Ala254Thr) | not specified [RCV004131210] | uncertain significance | 1 | 26897417 | 26897417 | Human | | name |
| 156275713 | CV2316479 | single nucleotide variant | NM_022078.3(GPATCH3):c.370C>T (p.Arg124Cys) | not specified [RCV004169958] | uncertain significance | 1 | 26900073 | 26900073 | Human | | name |
| 155987870 | CV2354981 | single nucleotide variant | NM_022078.3(GPATCH3):c.944G>A (p.Arg315Gln) | not specified [RCV004198382] | uncertain significance | 1 | 26894343 | 26894343 | Human | | name |
| 155990245 | CV2372022 | single nucleotide variant | NM_022078.3(GPATCH3):c.897A>T (p.Glu299Asp) | not specified [RCV004221695] | uncertain significance | 1 | 26894390 | 26894390 | Human | | name |
| 329358398 | CV2450306 | single nucleotide variant | NM_022078.3(GPATCH3):c.782A>T (p.Gln261Leu) | not specified [RCV004271397] | uncertain significance | 1 | 26897395 | 26897395 | Human | | name |
| 329353545 | CV2466716 | single nucleotide variant | NM_022078.3(GPATCH3):c.775A>G (p.Ile259Val) | not specified [RCV004280678] | uncertain significance | 1 | 26897402 | 26897402 | Human | | name |
| 329393049 | CV2469250 | single nucleotide variant | NM_022078.3(GPATCH3):c.574A>G (p.Arg192Gly) | not specified [RCV004280591] | uncertain significance | 1 | 26897603 | 26897603 | Human | | name |
| 401740066 | CV2683249 | single nucleotide variant | NM_022078.3(GPATCH3):c.934G>A (p.Gly312Arg) | not specified [RCV004288034] | likely benign | 1 | 26894353 | 26894353 | Human | | name |
| 401740288 | CV2683314 | single nucleotide variant | NM_022078.3(GPATCH3):c.887G>T (p.Arg296Leu) | not specified [RCV004288092] | uncertain significance | 1 | 26894400 | 26894400 | Human | | name |
| 401774183 | CV2691546 | single nucleotide variant | NM_022078.3(GPATCH3):c.418A>G (p.Ile140Val) | not specified [RCV004305380] | uncertain significance | 1 | 26900025 | 26900025 | Human | | name |
| 401865149 | CV2791535 | single nucleotide variant | NM_022078.3(GPATCH3):c.318C>G (p.Ile106Met) | not specified [RCV004358912] | uncertain significance | 1 | 26900125 | 26900125 | Human | | name |
| 401898882 | CV2792082 | single nucleotide variant | NM_022078.3(GPATCH3):c.697G>C (p.Gly233Arg) | not specified [RCV004361312] | uncertain significance | 1 | 26897480 | 26897480 | Human | | name |
| 405276588 | CV3193466 | single nucleotide variant | NM_022078.3(GPATCH3):c.701A>G (p.Asn234Ser) | GPATCH3-related disorder [RCV003974634] | likely benign | 1 | 26897476 | 26897476 | Human | | name , trait , alternate_id |
| 405787689 | CV3258712 | single nucleotide variant | NM_022078.3(GPATCH3):c.365C>T (p.Ser122Leu) | not specified [RCV004388025] | uncertain significance | 1 | 26900078 | 26900078 | Human | | name |
| 405787699 | CV3258714 | single nucleotide variant | NM_022078.3(GPATCH3):c.434T>C (p.Leu145Pro) | not specified [RCV004388027] | uncertain significance | 1 | 26900009 | 26900009 | Human | | name |
| 405787704 | CV3258715 | single nucleotide variant | NM_022078.3(GPATCH3):c.568A>G (p.Met190Val) | not specified [RCV004388028] | uncertain significance | 1 | 26897609 | 26897609 | Human | | name |
| 405787709 | CV3258716 | single nucleotide variant | NM_022078.3(GPATCH3):c.638C>G (p.Pro213Arg) | not specified [RCV004388029] | uncertain significance | 1 | 26897539 | 26897539 | Human | | name |
| 405787714 | CV3258717 | single nucleotide variant | NM_022078.3(GPATCH3):c.640C>T (p.Arg214Trp) | not specified [RCV004388030] | uncertain significance | 1 | 26897537 | 26897537 | Human | | name |
| 405787720 | CV3258718 | single nucleotide variant | NM_022078.3(GPATCH3):c.886C>G (p.Arg296Gly) | not specified [RCV004388031] | uncertain significance | 1 | 26894401 | 26894401 | Human | | name |
| 407525773 | CV3439935 | single nucleotide variant | NM_022078.3(GPATCH3):c.538C>G (p.Gln180Glu) | not specified [RCV004632215] | uncertain significance | 1 | 26897639 | 26897639 | Human | | name |
| 407504147 | CV3439938 | single nucleotide variant | NM_022078.3(GPATCH3):c.620G>A (p.Arg207Gln) | not specified [RCV004623964] | uncertain significance | 1 | 26897557 | 26897557 | Human | | name |
| 597733345 | CV3688365 | single nucleotide variant | NM_022078.3(GPATCH3):c.842G>A (p.Gly281Glu) | not specified [RCV004920105] | likely benign | 1 | 26897335 | 26897335 | Human | | name |
| 597733358 | CV3688366 | single nucleotide variant | NM_022078.3(GPATCH3):c.818G>A (p.Cys273Tyr) | not specified [RCV004920106] | uncertain significance | 1 | 26897359 | 26897359 | Human | | name |
| 597789337 | CV3688371 | single nucleotide variant | NM_022078.3(GPATCH3):c.865C>T (p.His289Tyr) | not specified [RCV004932941] | uncertain significance | 1 | 26897312 | 26897312 | Human | | name |
| 597733409 | CV3688373 | single nucleotide variant | NM_022078.3(GPATCH3):c.984G>C (p.Lys328Asn) | not specified [RCV004920110] | uncertain significance | 1 | 26894303 | 26894303 | Human | | name |
| 598233281 | CV3970812 | single nucleotide variant | NM_022078.3(GPATCH3):c.629G>A (p.Arg210His) | not specified [RCV005342734] | uncertain significance | 1 | 26897548 | 26897548 | Human | | name |
| 8629465 | CV84612 | single nucleotide variant | NM_022078.2(GPATCH3):c.821G>A (p.Gly274Glu) | Malignant melanoma [RCV000064694] | not provided | 1 | 26897356 | 26897356 | Human | | name |
| 28880110 | CV858942 | single nucleotide variant | NM_022078.3(GPATCH3):c.593C>T (p.Pro198Leu) | not provided [RCV001090919] | uncertain significance | 1 | 26897584 | 26897584 | Human | | name |
| 156220841 | CV2222415 | single nucleotide variant | NM_022078.3(GPATCH3):c.1126G>A (p.Asp376Asn) | not specified [RCV004099274] | uncertain significance | 1 | 26892777 | 26892777 | Human | | name |
| 156240284 | CV2265484 | single nucleotide variant | NM_022078.3(GPATCH3):c.1198G>A (p.Glu400Lys) | not specified [RCV004124242] | uncertain significance | 1 | 26892705 | 26892705 | Human | | name |
| 156281507 | CV2363051 | single nucleotide variant | NM_022078.3(GPATCH3):c.1151G>A (p.Arg384His) | not specified [RCV004211183] | uncertain significance | 1 | 26892752 | 26892752 | Human | | name |
| 329402303 | CV2454089 | single nucleotide variant | NM_022078.3(GPATCH3):c.1061A>G (p.Glu354Gly) | not specified [RCV004265595] | uncertain significance | 1 | 26893439 | 26893439 | Human | | name |
| 401756161 | CV2686312 | single nucleotide variant | NM_022078.3(GPATCH3):c.1469C>T (p.Thr490Met) | not specified [RCV004297391] | uncertain significance | 1 | 26891119 | 26891119 | Human | | name |
| 401886889 | CV2776795 | single nucleotide variant | NM_022078.3(GPATCH3):c.1148T>C (p.Met383Thr) | not specified [RCV004357942] | uncertain significance | 1 | 26892755 | 26892755 | Human | | name |
| 407525777 | CV3439936 | single nucleotide variant | NM_022078.3(GPATCH3):c.1117G>A (p.Gly373Arg) | not specified [RCV004632216] | uncertain significance | 1 | 26892786 | 26892786 | Human | | name |
| 407525783 | CV3439939 | single nucleotide variant | NM_022078.3(GPATCH3):c.1025C>T (p.Ala342Val) | not specified [RCV004632218] | uncertain significance | 1 | 26894262 | 26894262 | Human | | name |
| 597733331 | CV3688364 | single nucleotide variant | NM_022078.3(GPATCH3):c.1237A>G (p.Ile413Val) | not specified [RCV004920104] | uncertain significance | 1 | 26892535 | 26892535 | Human | | name |
| 597733372 | CV3688367 | single nucleotide variant | NM_022078.3(GPATCH3):c.1501A>G (p.Ser501Gly) | not specified [RCV004920107] | uncertain significance | 1 | 26891087 | 26891087 | Human | | name |
| 597733396 | CV3688372 | single nucleotide variant | NM_022078.3(GPATCH3):c.1103A>G (p.Tyr368Cys) | not specified [RCV004920109] | uncertain significance | 1 | 26893397 | 26893397 | Human | | name |
| 598273891 | CV3970811 | single nucleotide variant | NM_022078.3(GPATCH3):c.1169G>A (p.Arg390Gln) | not specified [RCV005351143] | uncertain significance | 1 | 26892734 | 26892734 | Human | | name |
| 598273893 | CV3970813 | single nucleotide variant | NM_022078.3(GPATCH3):c.1471G>C (p.Glu491Gln) | not specified [RCV005351144] | uncertain significance | 1 | 26891117 | 26891117 | Human | | name |
| 13462946 | CV439617 | single nucleotide variant | NM_022078.3(GPATCH3):c.1424G>A (p.Gly475Glu) | not provided [RCV000515500] | uncertain significance | 1 | 26891164 | 26891164 | Human | | name |
| 405285803 | CV3209719 | single nucleotide variant | NC_000001.11:g.26900659A>G | GPATCH3-related disorder [RCV003959285] | likely benign | 1 | 26900659 | 26900659 | Human | | trait , alternate_id |
