| 10448571 | CV214394 | single nucleotide variant | NM_002004.4(FDPS):c.684+1G>A | Porokeratosis 9, multiple types [RCV000201790] | pathogenic | 1 | 155318292 | 155318292 | Human | 1 | name |
| 11087743 | CV227741 | single nucleotide variant | NM_002004.4(FDPS):c.-1-98T>G | Bisphosphonates response - Efficacy [RCV000211252] | drug response | 1 | 155309691 | 155309691 | Human | 1 | name |
| 11087743 | CV227741 | single nucleotide variant | NM_002004.4(FDPS):c.-1-98T>G | Bisphosphonates response - Efficacy [RCV000211252] | drug response | 1 | 155309691 | 155309692 | Human | 1 | name |
| 26913605 | CV850726 | single nucleotide variant | NM_002004.4(FDPS):c.684+2T>G | not provided [RCV001036148] | likely pathogenic | 1 | 155318293 | 155318293 | Human | | name |
| 405292647 | CV3192561 | single nucleotide variant | NM_002004.4(FDPS):c.189C>T (p.Ser63=) | FDPS-related disorder [RCV003929812] | benign | 1 | 155310055 | 155310055 | Human | | name , trait , alternate_id |
| 15185606 | CV761243 | single nucleotide variant | NM_002004.4(FDPS):c.249C>T (p.Phe83=) | not provided [RCV000931106] | likely benign | 1 | 155310115 | 155310115 | Human | | name |
| 156044100 | CV2305886 | single nucleotide variant | NM_002004.4(FDPS):c.47C>T (p.Pro16Leu) | not specified [RCV004167675] | uncertain significance | 1 | 155309836 | 155309836 | Human | | name |
| 405263777 | CV3189855 | single nucleotide variant | NM_002004.4(FDPS):c.657C>T (p.Tyr219=) | FDPS-related disorder [RCV003896903] | likely benign | 1 | 155318264 | 155318264 | Human | | name , trait , alternate_id |
| 405279131 | CV3217376 | single nucleotide variant | NM_002004.4(FDPS):c.849A>G (p.Ala283=) | FDPS-related disorder [RCV003976806] | likely benign | 1 | 155319613 | 155319613 | Human | | name , trait , alternate_id |
| 597740504 | CV3676186 | single nucleotide variant | NM_002004.4(FDPS):c.34G>T (p.Val12Phe) | not specified [RCV004921480] | uncertain significance | 1 | 155309823 | 155309823 | Human | | name |
| 597740508 | CV3676187 | single nucleotide variant | NM_002004.4(FDPS):c.67C>T (p.Arg23Trp) | not specified [RCV004921481] | uncertain significance | 1 | 155309856 | 155309856 | Human | | name |
| 10448921 | CV214393 | deletion | NM_002004.4(FDPS):c.481-1776_847-143del | Porokeratosis 9, multiple types [RCV000201787] | pathogenic|uncertain significance | 1 | 155316165 | 155319468 | Human | 1 | name |
| 156288248 | CV2229746 | single nucleotide variant | NM_002004.4(FDPS):c.240G>C (p.Lys80Asn) | not specified [RCV004103543] | uncertain significance | 1 | 155310106 | 155310106 | Human | | name |
| 329392334 | CV2441454 | single nucleotide variant | NM_002004.4(FDPS):c.270C>G (p.Ile90Met) | not specified [RCV004257249] | uncertain significance | 1 | 155310136 | 155310136 | Human | | name |
| 401728229 | CV2676020 | single nucleotide variant | NM_002004.4(FDPS):c.151T>G (p.Cys51Gly) | not specified [RCV004282008] | uncertain significance | 1 | 155309940 | 155309940 | Human | | name |
| 405257968 | CV3208025 | single nucleotide variant | NM_002004.4(FDPS):c.142C>T (p.Arg48Cys) | FDPS-related disorder [RCV003941486] | benign | 1 | 155309931 | 155309931 | Human | | name , trait , alternate_id |
| 405743334 | CV3257057 | single nucleotide variant | NM_002004.4(FDPS):c.106G>A (p.Val36Met) | not specified [RCV004391674] | uncertain significance | 1 | 155309895 | 155309895 | Human | | name |
| 10448519 | CV214392 | single nucleotide variant | NM_002004.4(FDPS):c.536G>A (p.Arg179Gln) | Porokeratosis 9, multiple types [RCV000201791] | pathogenic | 1 | 155317996 | 155317996 | Human | 1 | name |
| 156384633 | CV2231137 | single nucleotide variant | NM_002004.4(FDPS):c.869A>C (p.Glu290Ala) | not specified [RCV004094350] | uncertain significance | 1 | 155319633 | 155319633 | Human | | name |
| 155999519 | CV2296205 | single nucleotide variant | NM_002004.4(FDPS):c.587A>G (p.Asn196Ser) | not specified [RCV004154124] | uncertain significance | 1 | 155318194 | 155318194 | Human | | name |
| 156048127 | CV2319215 | single nucleotide variant | NM_002004.4(FDPS):c.742A>C (p.Asn248His) | not specified [RCV004178265] | uncertain significance | 1 | 155318722 | 155318722 | Human | | name |
| 401896626 | CV2791803 | single nucleotide variant | NM_002004.4(FDPS):c.650C>A (p.Pro217His) | not specified [RCV004353120] | uncertain significance | 1 | 155318257 | 155318257 | Human | | name |
| 405266733 | CV3202076 | single nucleotide variant | NM_002004.4(FDPS):c.359T>C (p.Ile120Thr) | FDPS-related disorder [RCV003911557] | benign | 1 | 155312274 | 155312274 | Human | | name , trait , alternate_id |
| 405743345 | CV3257058 | single nucleotide variant | NM_002004.4(FDPS):c.311T>C (p.Ile104Thr) | not specified [RCV004391675] | likely benign | 1 | 155310177 | 155310177 | Human | | name |
| 405743350 | CV3257059 | single nucleotide variant | NM_002004.4(FDPS):c.583A>G (p.Ile195Val) | not specified [RCV004391676] | uncertain significance | 1 | 155318190 | 155318190 | Human | | name |
| 405743363 | CV3257061 | single nucleotide variant | NM_002004.4(FDPS):c.673C>G (p.Leu225Val) | not specified [RCV004391678] | uncertain significance | 1 | 155318280 | 155318280 | Human | | name |
| 405743369 | CV3257062 | single nucleotide variant | NM_002004.4(FDPS):c.919A>G (p.Ile307Val) | not specified [RCV004391679] | uncertain significance | 1 | 155319683 | 155319683 | Human | | name |
| 405743376 | CV3257063 | single nucleotide variant | NM_002004.4(FDPS):c.986A>C (p.Gln329Pro) | not specified [RCV004391680] | uncertain significance | 1 | 155319855 | 155319855 | Human | | name |
| 407483485 | CV3438936 | single nucleotide variant | NM_002004.4(FDPS):c.328C>T (p.Arg110Trp) | not specified [RCV004618579] | uncertain significance | 1 | 155310194 | 155310194 | Human | | name |
| 407483492 | CV3438937 | single nucleotide variant | NM_002004.4(FDPS):c.356C>T (p.Ala119Val) | not specified [RCV004618580] | uncertain significance | 1 | 155312271 | 155312271 | Human | | name |
| 407483497 | CV3438938 | single nucleotide variant | NM_002004.4(FDPS):c.309G>T (p.Glu103Asp) | not specified [RCV004618581] | uncertain significance | 1 | 155310175 | 155310175 | Human | | name |
| 597740513 | CV3676188 | single nucleotide variant | NM_002004.4(FDPS):c.863A>C (p.Glu288Ala) | not specified [RCV004921482] | uncertain significance | 1 | 155319627 | 155319627 | Human | | name |
| 329373749 | CV2452643 | single nucleotide variant | NM_002004.4(FDPS):c.1046A>C (p.Tyr349Ser) | not specified [RCV004275212] | uncertain significance | 1 | 155319915 | 155319915 | Human | | name |
| 401742282 | CV2718747 | single nucleotide variant | NM_002004.4(FDPS):c.1000A>G (p.Ser334Gly) | not specified [RCV004328500] | uncertain significance | 1 | 155319869 | 155319869 | Human | | name |
| 597740518 | CV3676189 | single nucleotide variant | NM_002004.4(FDPS):c.1201C>A (p.Pro401Thr) | not specified [RCV004921483] | uncertain significance | 1 | 155320550 | 155320550 | Human | | name |
| 597740523 | CV3676190 | single nucleotide variant | NM_002004.4(FDPS):c.1180C>G (p.Leu394Val) | not specified [RCV004921484] | uncertain significance | 1 | 155320529 | 155320529 | Human | | name |
| 597740528 | CV3676191 | single nucleotide variant | NM_002004.4(FDPS):c.1195G>T (p.Ala399Ser) | not specified [RCV004921485] | likely benign | 1 | 155320544 | 155320544 | Human | | name |
| 598240232 | CV3959222 | single nucleotide variant | NM_002004.4(FDPS):c.1190A>G (p.Gln397Arg) | not specified [RCV005344152] | uncertain significance | 1 | 155320539 | 155320539 | Human | | name |
| 14746809 | CV672029 | single nucleotide variant | NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) | FDPS-related disorder [RCV003975362]|not provided [RCV000845049] | benign|not provided | 1 | 155320440 | 155320440 | Human | 6 | name , trait , alternate_id |
| 14746809 | CV672029 | single nucleotide variant | NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) | FDPS-related disorder [RCV003975362]|not provided [RCV000845049] | benign|not provided | 1 | 155320440 | 155320441 | Human | 6 | name , trait , alternate_id |
