NM_080680.2(COL11A2):c.4322G>A (p.Gly1441Glu) | 1302 | COL11A2 | Pathogenic | 121912946 | RCV000018660; RCV000018661; | N | ; MedGen:C1848488,OMIM:277610,ORPHA:3450 | 6 | 33134513 | 33134513 | NM_080680.2:c.4322G>A | NP_542411.2:p.Gly1441Glu | NC_000006.11:g.33134513C>T | OMIM Allelic Variant:120290.0004 | C1848488 277610 Weissenbacher-Zweymuller syndrome | | |