U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:122693043
GRCh38:
Chr12:122208496
DIABLO, B3GNT4R105Q, R129Q, R149Q, R158Q, R202QAutosomal dominant nonsyndromic hearing loss 64Uncertain significance
(Feb 23, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr12:122702909
GRCh38:
Chr12:122218362
DIABLOL20F, L73FAutosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing lossUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr12:122709500-122709501
GRCh38:
Chr12:122224953-122224954
DIABLOnot provided, Autosomal dominant nonsyndromic hearing loss 64Benign
(Oct 8, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr12:122701355
GRCh38:
Chr12:122216808
DIABLOS126L, S82L, S29L, S73L, S53Lnot providedPathogenic
(Jul 13, 2020)
criteria provided, single submitter
Format
Sort by
Choose Destination