Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_001291415.2(KDM6A):c.2988+2dup | KDM6A | Likely pathogenic | X | 44936072 | 44936073 | G | GT | criteria provided, single submitter | ClinGen:CA209510 |
Duplication | NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) | KMT2D | Likely pathogenic | 12 | 49434071 | 49434072 | G | GA | criteria provided, single submitter | ClinGen:CA274867 |
single nucleotide variant | NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) | KMT2D | Likely pathogenic | 12 | 49416064 | 49416064 | T | A | criteria provided, single submitter | ClinGen:CA271610 |
single nucleotide variant | NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) | KMT2D | Likely pathogenic | 12 | 49415934 | 49415934 | C | A | criteria provided, single submitter | ClinGen:CA271613 |
Deletion | NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) | KMT2D | Likely pathogenic | 12 | 49438005 | 49438005 | CA | C | criteria provided, single submitter | ClinGen:CA232415 |
single nucleotide variant | NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) | KMT2D | Likely pathogenic | 12 | 49420645 | 49420645 | C | G | criteria provided, single submitter | ClinGen:CA222025 |
single nucleotide variant | NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) | KMT2D | Likely pathogenic | 12 | 49427850 | 49427850 | C | T | criteria provided, single submitter | ClinGen:CA221981 |