| 597761972 | CV3619215 | single nucleotide variant | NM_001363644.2(TBCEL):c.10C>A (p.Pro4Thr) | not specified [RCV004869532] | uncertain significance | 11 | 121045700 | 121045700 | Human | | name |
| 401859858 | CV2794418 | single nucleotide variant | NM_001363644.2(TBCEL):c.74G>A (p.Arg25His) | not provided [RCV003387586] | uncertain significance | 11 | 121045764 | 121045764 | Human | | name |
| 156220232 | CV2254130 | single nucleotide variant | NM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser) | not specified [RCV004129568] | uncertain significance | 11 | 121047537 | 121047537 | Human | | name |
| 156249238 | CV2358841 | single nucleotide variant | NM_001363644.2(TBCEL):c.292A>C (p.Asn98His) | not specified [RCV004212189] | uncertain significance | 11 | 121053569 | 121053569 | Human | | name |
| 401741048 | CV2680536 | single nucleotide variant | NM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys) | not specified [RCV004291170] | uncertain significance | 11 | 121045812 | 121045812 | Human | | name |
| 401762374 | CV2723417 | single nucleotide variant | NM_001363644.2(TBCEL):c.274G>A (p.Val92Ile) | not specified [RCV004323493] | uncertain significance | 11 | 121053551 | 121053551 | Human | | name |
| 401898210 | CV2790953 | single nucleotide variant | NM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe) | not specified [RCV004354584] | uncertain significance | 11 | 121045812 | 121045812 | Human | | name |
| 405791476 | CV3335368 | single nucleotide variant | NM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys) | not specified [RCV004474130] | uncertain significance | 11 | 121045800 | 121045800 | Human | | name |
| 597761969 | CV3619214 | single nucleotide variant | NM_001363644.2(TBCEL):c.220G>A (p.Ala74Thr) | not specified [RCV004869531] | uncertain significance | 11 | 121047614 | 121047614 | Human | | name |
| 8633886 | CV89102 | single nucleotide variant | NM_001130047.1(TBCEL):c.1047C>T (p.His349=) | Malignant melanoma [RCV000069199] | not provided | 11 | 121086868 | 121086868 | Human | | name |
| 156185920 | CV2195608 | single nucleotide variant | NM_001363644.2(TBCEL):c.733A>G (p.Ile245Val) | not specified [RCV004082816] | uncertain significance | 11 | 121058365 | 121058365 | Human | | name |
| 156017323 | CV2295571 | single nucleotide variant | NM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser) | not specified [RCV004160662] | uncertain significance | 11 | 121055099 | 121055099 | Human | | name |
| 156083753 | CV2369056 | single nucleotide variant | NM_001363644.2(TBCEL):c.435G>T (p.Met145Ile) | not specified [RCV004207987] | uncertain significance | 11 | 121053712 | 121053712 | Human | | name |
| 156247356 | CV2396895 | single nucleotide variant | NM_001363644.2(TBCEL):c.608A>T (p.Asp203Val) | not specified [RCV004234016] | uncertain significance | 11 | 121055204 | 121055204 | Human | | name |
| 405285129 | CV3202488 | single nucleotide variant | NM_001363644.2(TBCEL):c.436A>T (p.Ile146Leu) | TBCEL-related disorder [RCV003909750] | likely benign | 11 | 121053713 | 121053713 | Human | | name , trait , alternate_id |
| 405791472 | CV3335369 | single nucleotide variant | NM_001363644.2(TBCEL):c.382G>A (p.Val128Ile) | not specified [RCV004474131] | uncertain significance | 11 | 121053659 | 121053659 | Human | | name |
| 405791471 | CV3335370 | single nucleotide variant | NM_001363644.2(TBCEL):c.511A>G (p.Ile171Val) | not specified [RCV004474132] | uncertain significance | 11 | 121055107 | 121055107 | Human | | name |
| 405791468 | CV3335371 | single nucleotide variant | NM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln) | not specified [RCV004474133] | uncertain significance | 11 | 121055174 | 121055174 | Human | | name |
| 405791465 | CV3335372 | single nucleotide variant | NM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu) | not specified [RCV004474134] | uncertain significance | 11 | 121055191 | 121055191 | Human | | name |
| 405791462 | CV3335373 | single nucleotide variant | NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln) | not specified [RCV004474135] | uncertain significance | 11 | 121055285 | 121055285 | Human | | name |
| 405791459 | CV3335374 | single nucleotide variant | NM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln) | not specified [RCV004474136] | uncertain significance | 11 | 121058389 | 121058389 | Human | | name |
| 597761952 | CV3619211 | single nucleotide variant | NM_001363644.2(TBCEL):c.379G>A (p.Gly127Arg) | not specified [RCV004869528] | uncertain significance | 11 | 121053656 | 121053656 | Human | | name |
| 597761963 | CV3619213 | single nucleotide variant | NM_001363644.2(TBCEL):c.670A>G (p.Arg224Gly) | not specified [RCV004869530] | uncertain significance | 11 | 121055266 | 121055266 | Human | | name |
| 597761977 | CV3619216 | single nucleotide variant | NM_001363644.2(TBCEL):c.941A>G (p.Glu314Gly) | not specified [RCV004869533] | uncertain significance | 11 | 121060070 | 121060070 | Human | | name |
| 598208523 | CV3912967 | single nucleotide variant | NM_001363644.2(TBCEL):c.616G>A (p.Val206Ile) | not specified [RCV005291501] | uncertain significance | 11 | 121055212 | 121055212 | Human | | name |
| 598208528 | CV3912968 | single nucleotide variant | NM_001363644.2(TBCEL):c.647A>C (p.Glu216Ala) | not specified [RCV005291502] | uncertain significance | 11 | 121055243 | 121055243 | Human | | name |
| 8626923 | CV82067 | single nucleotide variant | NM_001130047.1(TBCEL):c.940G>A (p.Glu314Lys) | Malignant melanoma [RCV000062146] | not provided | 11 | 121060069 | 121060069 | Human | | name |
| 155931340 | CV2399825 | single nucleotide variant | NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg) | not specified [RCV004245626] | uncertain significance | 11 | 121086951 | 121086951 | Human | | name |
| 329372612 | CV2451568 | single nucleotide variant | NM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser) | not specified [RCV004274505] | uncertain significance | 11 | 121086956 | 121086956 | Human | | name |
| 8633885 | CV89101 | single nucleotide variant | NM_001130047.1(TBCEL):c.1046A>T (p.His349Leu) | Malignant melanoma [RCV000069198] | not provided | 11 | 121086867 | 121086867 | Human | | name |
| 8633887 | CV89103 | single nucleotide variant | NM_001130047.1(TBCEL):c.1078C>T (p.Arg360Cys) | Malignant melanoma [RCV000069200] | not provided | 11 | 121086899 | 121086899 | Human | | name |
| 8633888 | CV89104 | single nucleotide variant | NM_001130047.1(TBCEL):c.1223C>T (p.Ser408Phe) | Malignant melanoma [RCV000069201] | not provided | 11 | 121087044 | 121087044 | Human | | name |