ClinVar for MedGen (Select 1801103) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24440251.	NM_002107.7(H3-3A):c.137C>A (p.Thr46Asn) GRCh37: Chr1:226253365 GRCh38: Chr1:226065664	H3-3A	T46N	Bryant-Li-Bhoj neurodevelopmental syndrome 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 13392832.	NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly) GRCh37: Chr1:226252104 GRCh38: Chr1:226064403	H3-3A	R18G	not provided	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 11839813.	NM_002107.7(H3-3A):c.386G>A (p.Arg129His) GRCh37: Chr1:226259155 GRCh38: Chr1:226071454	H3-3A	R129H	Bryant-Li-Bhoj neurodevelopmental syndrome 1, Short stature, Global developmental delay, Intellectual disability, Brain imaging abnormality, Delayed speech and language development	Pathogenic/Likely pathogenic (Feb 1, 2022)	no assertion criteria provided
Select item 11839804.	NM_002107.7(H3-3A):c.363G>A (p.Met121Ile) GRCh37: Chr1:226259132 GRCh38: Chr1:226071431	H3-3A	M121I	Bryant-Li-Bhoj neurodevelopmental syndrome 1	Pathogenic	criteria provided, single submitter
Select item 11839795.	NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) GRCh37: Chr1:226253499 GRCh38: Chr1:226065798	H3-3A	G91R	Bryant-Li-Bhoj neurodevelopmental syndrome 1	Uncertain significance (Apr 3, 2023)	criteria provided, single submitter
Select item 11839776.	NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys) GRCh37: Chr1:226252173 GRCh38: Chr1:226064472	H3-3A	R41C	Bryant-Li-Bhoj neurodevelopmental syndrome 1, Short stature, Global developmental delay, Intellectual disability, Brain imaging abnormality, Delayed speech and language development	Pathogenic/Likely pathogenic (Feb 1, 2022)	no assertion criteria provided
Select item 9853357.	NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile) GRCh37: Chr1:226253365 GRCh38: Chr1:226065664	H3-3A	T46I	Inborn genetic diseases	Likely pathogenic (Dec 7, 2018)	criteria provided, single submitter
Select item 9852638.	NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser) GRCh37: Chr1:226259095 GRCh38: Chr1:226071394	H3-3A	N109S	Bryant-Li-Bhoj neurodevelopmental syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 6903749.	NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) GRCh37: Chr1:226259134 GRCh38: Chr1:226071433	H3-3A	P122L	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 7, 2023)	criteria provided, conflicting interpretations
Select item 52077410.	NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) GRCh37: Chr1:226259146 GRCh38: Chr1:226071445	H3-3A	Q126R	Inborn genetic diseases, not provided, H3F3A-related condition, Bryant-Li-Bhoj neurodevelopmental syndrome 1	Pathogenic/Likely pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts