| 407451316 | CV3485974 | single nucleotide variant | NM_182539.4(TCTE1):c.185G>A (p.Arg62His) | not specified [RCV004675682] | uncertain significance | 6 | 44287641 | 44287641 | Human | | name |
| 597773017 | CV3615967 | single nucleotide variant | NM_182539.4(TCTE1):c.902G>A (p.Arg301Gln) | not specified [RCV004871970] | uncertain significance | 6 | 44282504 | 44282504 | Human | | name |
| 597773032 | CV3615970 | single nucleotide variant | NM_182539.4(TCTE1):c.446G>A (p.Gly149Asp) | not specified [RCV004871973] | uncertain significance | 6 | 44286364 | 44286364 | Human | | name |
| 597773038 | CV3615971 | single nucleotide variant | NM_182539.4(TCTE1):c.899T>A (p.Ile300Asn) | not specified [RCV004871974] | uncertain significance | 6 | 44282507 | 44282507 | Human | | name |
| 407451320 | CV3485975 | single nucleotide variant | NM_182539.4(TCTE1):c.1174C>T (p.Leu392Phe) | not specified [RCV004675683] | uncertain significance | 6 | 44282232 | 44282232 | Human | | name |
| 407451325 | CV3485976 | single nucleotide variant | NM_182539.4(TCTE1):c.1262C>A (p.Thr421Asn) | not specified [RCV004675684] | uncertain significance | 6 | 44282144 | 44282144 | Human | | name |
| 597773027 | CV3615969 | single nucleotide variant | NM_182539.4(TCTE1):c.1004G>A (p.Arg335His) | not specified [RCV004871972] | uncertain significance | 6 | 44282402 | 44282402 | Human | | name |
| 597773043 | CV3615972 | single nucleotide variant | NM_182539.4(TCTE1):c.1090C>T (p.Leu364Phe) | not specified [RCV004871975] | uncertain significance | 6 | 44282316 | 44282316 | Human | | name |
| 8626218 | CV81362 | single nucleotide variant | NM_182539.3(TCTE1):c.1451C>T (p.Pro484Leu) | Malignant melanoma [RCV000061440] | not provided | 6 | 44280236 | 44280236 | Human | | name |
| 8626219 | CV81363 | single nucleotide variant | NM_182539.3(TCTE1):c.1097C>T (p.Ser366Phe) | Malignant melanoma [RCV000061441] | not provided | 6 | 44282309 | 44282309 | Human | | name |
| 405280143 | CV3206502 | single nucleotide variant | NM_182539.4(DRC5):c.547C>T (p.Leu183Phe) | TCTE1-related disorder [RCV003981214] | likely benign | 6 | 44286263 | 44286263 | Human | | trait , alternate_id |
| 405275077 | CV3214862 | single nucleotide variant | NM_182539.4(DRC5):c.928G>A (p.Glu310Lys) | TCTE1-related disorder [RCV003934269] | likely benign | 6 | 44282478 | 44282478 | Human | | trait , alternate_id |