PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 34082468-10 2021 We increased the accuracy of the ACMG-AMP classification of 45 PCDH19 variants from 50% to 94%, using these tools. acmg-amp 33-41 protocadherin 19 Homo sapiens 63-69 35328090-0 2022 SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. acmg-amp 87-95 superoxide dismutase 1 Homo sapiens 0-5 30890586-0 2019 Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. acmg-amp 25-33 partner and localizer of BRCA2 Homo sapiens 63-68 35328090-4 2022 In this study, we re-evaluated the classification of all previously reported SOD1 variants (n = 202) from ALSoD, project MinE, and in-house databases by applying the ACMG-AMP criteria to ALS. acmg-amp 166-174 superoxide dismutase 1 Homo sapiens 77-81 30869828-0 2019 Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. acmg-amp 34-42 menin 1 Homo sapiens 79-83 30869828-9 2019 Here, TENGEN proposes adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. acmg-amp 41-49 menin 1 Homo sapiens 86-90 28170077-0 2017 Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. acmg-amp 24-32 HNF1 homeobox A Homo sapiens 47-52 30203441-6 2019 Fourteen ACMG-AMP rules were deemed applicable for SCN5A variant analysis. acmg-amp 9-17 sodium voltage-gated channel alpha subunit 5 Homo sapiens 51-56 30203441-13 2019 CONCLUSION: Based on contemporary ACMG-AMP guidelines, only a minority of SCN5A variants implicated in BrS fulfill the criteria for pathogenicity or likely pathogenicity. acmg-amp 34-42 sodium voltage-gated channel alpha subunit 5 Homo sapiens 74-79 28170077-0 2017 Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. acmg-amp 24-32 glucokinase Homo sapiens 57-60