. 2024 Oct 16;143(11):1379–1399. doi: 10.1007/s00439-024-02706-w

Table 1.

Follow-up of selected variants in human deafness genes in group AR

Gene	Variant	Findings^a
ABHD12	Chr20(GRCh37):g.25282937del NM_001042472.3:c.1075del p.(Val359Phefs*27) (homozygous)	Likely cause of HL, no segregation analysis possible Gene not yet in HL gene panel for clinical exome sequencing
LRP2	Chr2(GRCh37):g.170002322G > A NM_004525.3:c.12923C > T p.(Thr4308Met)	Variants do not co-segregate with HL
	Chr2(GRCh37):g.170070387G > T NM_004525.3:c.5827-7C > A p.?
	Chr2(GRCh37):g.170081863G > T NM_004525.3:c.5495C > A p.(Ser1832*)
	Chr2(GRCh37):g.170081873C > A NM_004525.3:c.5485G > T p.(Asp1829Tyr)

Variants are in heterozygous state unless stated otherwise

^aOne cell per subject