ClinVar for MedGen (Select 1684884) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13329351.	NM_001077207.4(SEC31A):c.597A>G (p.Arg199=) GRCh37: Chr4:83795806 GRCh38: Chr4:82874653	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13329342.	NM_001077207.4(SEC31A):c.640-4T>G GRCh37: Chr4:83793243 GRCh38: Chr4:82872090	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13329333.	NM_001077207.4(SEC31A):c.1008T>A (p.Gly336=) GRCh37: Chr4:83788344 GRCh38: Chr4:82867191	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13329324.	NM_001077207.4(SEC31A):c.1045-26G>T GRCh37: Chr4:83788139 GRCh38: Chr4:82866986	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13329315.	NM_001077207.4(SEC31A):c.2154+36G>C GRCh37: Chr4:83774687 GRCh38: Chr4:82853534	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13329306.	NM_001077207.4(SEC31A):c.2503-29C>A GRCh37: Chr4:83765691 GRCh38: Chr4:82844538	SEC31A		Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 10285017.	NM_001077207.4(SEC31A):c.1374C>G (p.Cys458Trp) GRCh37: Chr4:83785575 GRCh38: Chr4:82864422	SEC31A	C453W, C458W	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Uncertain significance (Nov 5, 2020)	criteria provided, single submitter
Select item 6942958.	NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs) GRCh37: Chr4:83763483-83763484 GRCh38: Chr4:82842330-82842331	SEC31A	A922fs, A888fs, A927fs	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Pathogenic (Nov 16, 2021)	no assertion criteria provided