| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058340, LOC130058341 +925 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058356, LOC130058357 +40 more | Deletion | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125146383, LOC125146384 +66 more | Deletion | Rubinstein-Taybi syndrome | |
| | | Copy number loss | See cases | |
| | CORO7, CORO7-PAM16 +1 more (G23S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (Q85K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (A100T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, CORO7 +1 more (N101I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, CORO7 +1 more (E127Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R137C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (R137H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (H138Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (D148N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R149C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (D157N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (S180R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (L189V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, VASN +1 more (G201V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R214H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R216C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | VASN, CORO7-PAM16 +1 more (P257L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R289C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, VASN +1 more (R297H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (V303M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (E325G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, VASN +1 more (P331Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R362K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (R366Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (P385L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (V400I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (P406S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (R425W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (H426Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (H427R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (G435A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (G435V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (R462Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, CORO7 +1 more (T465I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7 +1 more (V478M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (S487R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (M536V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, VASN +1 more (R542W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, CORO7 +1 more (R542Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, CORO7 +1 more (G551R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (H563Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (E571K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (A584T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | VASN, CORO7-PAM16 +1 more (P621L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7, CORO7-PAM16 +1 more (K636E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CORO7-PAM16, VASN +1 more (K636N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Duplication | Rubinstein-Taybi syndrome | |
| | | Duplication | Idiopathic generalized epilepsy +3 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Duplication | Amelocerebrohypohidrotic syndrome | |
| | | Copy number gain | not provided | |
| | CORO7, CORO7-PAM16 +4 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CORO7-PAM16, GLIS2 +3 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ATP6V0D1, ATXN1L +810 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |