| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (T382I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (P368L) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC107075317, SIX5 (G364V) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC107075317, SIX5 (L359V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC107075317, SIX5 (L359M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (I344F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (P334S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC107075317, SIX5 (S333F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (S326T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (S319F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (P311L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107075317, SIX5 (P311S) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC107075317, SIX5 (A307T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC107075317, SIX5 (S283R) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (A235V) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | DM1-AS, LOC107075317
+1 more (R233H) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (R224P) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (A218G) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (P153S) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | DM1-AS, LOC107075317
+2 more (F86L) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | DM1-AS, LOC107075317
+2 more (S78A) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (A77V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | DM1-AS, LOC107075317
+2 more (E75A) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (E75V) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | DM1-AS, LOC107075317
+2 more (P74R) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (P70R) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (S66F) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (S66Y) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+2 more (P64L) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DM1-AS, LOC107075317
+2 more (A54V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | DM1-AS, LOC107075317
+1 more (T25A) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (P8S) | Single nucleotide variant (missense variant) | not specified | |
| | DM1-AS, LOC107075317
+1 more (A6S) | Single nucleotide variant (missense variant) | not specified | |