| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC497256, SPATA31E1 (I6T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G11S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P29A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (D37N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (I38T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (E43D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (M45T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (S53N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (L81P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P94L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G110R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R134Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (E150D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A171V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (S190P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P206L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P215T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P248T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P251S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P257L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P258L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (Q267R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (S278R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (T290A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (E311K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R329Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (D333N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (D333G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V351I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A370T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (D387N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P389L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC497256, SPATA31E1 (H390Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (M391I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R418C) | Single nucleotide variant (missense variant) | not specified | |
| | SPATA31E1, LOC497256 (R418G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V428M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (H431P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R436C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A452V) | Single nucleotide variant (missense variant) | not specified | |
| | SPATA31E1, LOC497256 (W456S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (K473T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P497S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (H498Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (T523I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P529T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P530T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V559A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P575S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P582T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P582L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A605V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G617R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V619A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (W629R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P661S) | Single nucleotide variant (missense variant) | not specified | |
| | SPATA31E1, LOC497256 (K686N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC497256, SPATA31E1 (K689N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (Q692H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G695R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G700A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (F702S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (L708S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P714Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R718Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (E737G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R741Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (K745T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V785M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R787H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (T801I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A809T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A816T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (E823K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (L835V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (F842L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (V860I) | Single nucleotide variant (missense variant) | not provided | |
| | LOC497256, SPATA31E1 (A865T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P877L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (R884Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P914L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (A921T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (P924R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC497256, SPATA31E1 (G929R) | Single nucleotide variant (missense variant) | not specified | |