| 616933351 | CV4013750 | single nucleotide variant | MRPL50, VAL112ASP | not provided [RCV005411253] | uncertain significance | | | | Human | | name |
| 407525213 | CV3450377 | single nucleotide variant | NM_019051.3(MRPL50):c.49A>G (p.Thr17Ala) | not specified [RCV004631661] | uncertain significance | 9 | 101398544 | 101398544 | Human | | name |
| 597637991 | CV3557326 | single nucleotide variant | NM_019051.3(MRPL50):c.67T>C (p.Cys23Arg) | not specified [RCV004824839] | likely benign | 9 | 101398526 | 101398526 | Human | | name |
| 156380269 | CV2218090 | single nucleotide variant | NM_019051.3(MRPL50):c.208T>G (p.Leu70Val) | not specified [RCV004086524] | uncertain significance | 9 | 101390735 | 101390735 | Human | | name |
| 329362588 | CV2438947 | single nucleotide variant | NM_019051.3(MRPL50):c.212A>T (p.Glu71Val) | not specified [RCV004264463] | uncertain significance | 9 | 101390731 | 101390731 | Human | | name |
| 329393080 | CV2449483 | single nucleotide variant | NM_019051.3(MRPL50):c.206G>A (p.Arg69His) | not specified [RCV004268425] | uncertain significance | 9 | 101390737 | 101390737 | Human | | name |
| 405758369 | CV3367876 | single nucleotide variant | NM_019051.3(MRPL50):c.229G>A (p.Val77Ile) | not specified [RCV004500196] | likely benign | 9 | 101390714 | 101390714 | Human | | name |
| 405758413 | CV3367882 | single nucleotide variant | NM_019051.3(MRPL50):c.284G>A (p.Arg95His) | not specified [RCV004500202] | likely benign | 9 | 101390659 | 101390659 | Human | | name |
| 405758466 | CV3367889 | single nucleotide variant | NM_019051.3(MRPL50):c.284G>C (p.Arg95Pro) | not specified [RCV004500209] | uncertain significance | 9 | 101390659 | 101390659 | Human | | name |
| 407474615 | CV3450375 | single nucleotide variant | NM_019051.3(MRPL50):c.263A>T (p.Asp88Val) | not specified [RCV004638199] | uncertain significance | 9 | 101390680 | 101390680 | Human | | name |
| 407474619 | CV3450378 | single nucleotide variant | NM_019051.3(MRPL50):c.296A>G (p.Asn99Ser) | not specified [RCV004638200] | likely benign | 9 | 101390647 | 101390647 | Human | | name |
| 407474628 | CV3450380 | single nucleotide variant | NM_019051.3(MRPL50):c.218A>C (p.Tyr73Ser) | not specified [RCV004638202] | uncertain significance | 9 | 101390725 | 101390725 | Human | | name |
| 597634423 | CV3557325 | single nucleotide variant | NM_019051.3(MRPL50):c.152T>C (p.Val51Ala) | not specified [RCV004830917] | uncertain significance | 9 | 101390791 | 101390791 | Human | | name |
| 598179025 | CV3993448 | single nucleotide variant | NM_019051.3(MRPL50):c.125T>C (p.Val42Ala) | not specified [RCV005371862] | uncertain significance | 9 | 101390818 | 101390818 | Human | | name |
| 329954328 | CV1866804 | single nucleotide variant | NM_019051.3(MRPL50):c.335T>A (p.Val112Asp) | See cases [RCV003234801] | likely pathogenic | 9 | 101390608 | 101390608 | Human | | name |
| 156136083 | CV2257046 | single nucleotide variant | NM_019051.3(MRPL50):c.458A>C (p.Lys153Thr) | not specified [RCV004123016] | uncertain significance | 9 | 101390485 | 101390485 | Human | | name |
| 155925107 | CV2277243 | single nucleotide variant | NM_019051.3(MRPL50):c.443T>C (p.Leu148Pro) | not specified [RCV004142865] | uncertain significance | 9 | 101390500 | 101390500 | Human | | name |
| 401877452 | CV2769460 | single nucleotide variant | NM_019051.3(MRPL50):c.362G>A (p.Cys121Tyr) | not specified [RCV004357436] | uncertain significance | 9 | 101390581 | 101390581 | Human | | name |
| 401899166 | CV2783718 | single nucleotide variant | NM_019051.3(MRPL50):c.410G>A (p.Arg137Lys) | not specified [RCV004360638] | uncertain significance | 9 | 101390533 | 101390533 | Human | | name |
| 407474623 | CV3450379 | single nucleotide variant | NM_019051.3(MRPL50):c.307C>T (p.His103Tyr) | not specified [RCV004638201] | uncertain significance | 9 | 101390636 | 101390636 | Human | | name |