ClinVar for MedGen (Select 1811435) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275651.	NM_005324.5(H3-3B):c.328C>G (p.Leu110Val) GRCh37: Chr17:73774759 GRCh38: Chr17:75778678	H3-3B	L110V	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Uncertain significance (Sep 28, 2023)	criteria provided, single submitter
Select item 25730762.	NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys) GRCh37: Chr17:73774711 GRCh38: Chr17:75778630	H3-3B	Q126K	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Likely pathogenic (May 22, 2023)	criteria provided, single submitter
Select item 17080613.	NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile) GRCh37: Chr17:73775221 GRCh38: Chr17:75779140	H3-3B	T12I	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16972464.	NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg) GRCh37: Chr17:73775188 GRCh38: Chr17:75779107	H3-3B	T23R	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 13392755.	NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) GRCh37: Chr17:73774710 GRCh38: Chr17:75778629	H3-3B	Q126R	H3-3B-related condition, Bryant-Li-Bhoj neurodevelopmental syndrome 2	Pathogenic/Likely pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13392746.	NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg) GRCh37: Chr17:73774722 GRCh38: Chr17:75778641	H3-3B	P122R	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Pathogenic (Feb 2, 2022)	no assertion criteria provided
Select item 13392737.	NM_005324.5(H3-3B):c.88G>C (p.Ala30Pro) GRCh37: Chr17:73775168 GRCh38: Chr17:75779087	H3-3B	A30P	Bryant-Li-Bhoj neurodevelopmental syndrome 2	Pathogenic (Feb 2, 2022)	no assertion criteria provided
Select item 11839848.	NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn) GRCh37: Chr17:73775018 GRCh38: Chr17:75778937	H3-3B	I52N	Bryant-Li-Bhoj neurodevelopmental syndrome 2, Short stature, Global developmental delay, Intellectual disability, Brain imaging abnormality, Delayed speech and language development	Pathogenic/Likely pathogenic (Feb 2, 2022)	no assertion criteria provided
Select item 9855599.	NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys) GRCh37: Chr17:73775231 GRCh38: Chr17:75779150	H3-3B	R9C	Inborn genetic diseases	Uncertain significance (Feb 22, 2018)	criteria provided, single submitter
Select item 52124710.	NM_005324.5(H3-3B):c.23C>T (p.Ala8Val) GRCh37: Chr17:73775233 GRCh38: Chr17:75779152	H3-3B	A8V	Bryant-Li-Bhoj neurodevelopmental syndrome 2, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 19, 2022)	criteria provided, conflicting interpretations