| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (E195D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (Q832P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994768, PROB1 +1 more (P476T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (R800S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | STING-associated vasculopathy with onset in infancy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (E239K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (G235S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (G163S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (R852S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (P822S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (A782V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994766, PROB1 +1 more (Y695F) | 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 specified | |
| | LOC129994767, PROB1 +1 more (P559L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994768, PROB1 +1 more (S472Y) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129994769, PROB1 +1 more (Q159H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (R174Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (P778L) | 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 specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (R215W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (G795A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T560I) | 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 specified | |
| | | Deletion | STING-associated vasculopathy with onset in infancy | |
| | ANKHD1, ANKHD1-EIF4EBP3 +53 more | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Duplication | not provided | |
| | LOC129994769, PROB1 +1 more (E194V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (A808T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994768, PROB1 +1 more (G467R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (E195K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (V791L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (A222V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994765, PROB1 +1 more (G781S) | 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 specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (R156G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T550I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (V584A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994769, PROB1 +1 more (R215Q) | 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 specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T560A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129994768, PROB1 +1 more (P503T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129994768, PROB1 +1 more (P492R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129994765, PROB1 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129994768, PROB1 +1 more (A506V) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Deletion | Familial adenomatous polyposis 1 +1 more | |
| | | Copy number loss | See cases | |