ClinVar for MedGen (Select 767123) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24421211.	NM_002768.5(CHMP1A):c.28-2A>G GRCh37: Chr16:89718056 GRCh38: Chr16:89651648	CHMP1A		Pontocerebellar hypoplasia type 8	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 10320872.	NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala) GRCh37: Chr16:89713715 GRCh38: Chr16:89647307	CHMP1A	D86G, T93A	Pontocerebellar hypoplasia type 8	Uncertain significance (Jul 6, 2018)	criteria provided, single submitter
Select item 10320863.	NM_002768.5(CHMP1A):c.*93G>A GRCh37: Chr16:89712381 GRCh38: Chr16:89645973	CHMP1A	A222T	Pontocerebellar hypoplasia type 8	Uncertain significance (May 24, 2018)	criteria provided, single submitter
Select item 10280454.	NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser) GRCh37: Chr16:89715881 GRCh38: Chr16:89649473	CHMP1A	C44S, V37E	not provided, Pontocerebellar hypoplasia type 8, Inborn genetic diseases	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10280445.	NM_002768.5(CHMP1A):c.106-3C>T GRCh37: Chr16:89715908 GRCh38: Chr16:89649500	CHMP1A		Pontocerebellar hypoplasia type 8	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 5108636.	NM_002768.5(CHMP1A):c.204C>T (p.Arg68=) GRCh37: Chr16:89715807 GRCh38: Chr16:89649399	CHMP1A	R62C	Pontocerebellar hypoplasia type 8, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 1287327.	NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) GRCh37: Chr16:89718031 GRCh38: Chr16:89651623	CHMP1A	A11T	not specified, Pontocerebellar hypoplasia type 8, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 398388.	NM_002768.5(CHMP1A):c.28-13G>A GRCh37: Chr16:89718067 GRCh38: Chr16:89651659	CHMP1A		Pontocerebellar hypoplasia type 8	Pathogenic (Nov 1, 2012)	no assertion criteria provided
Select item 398379.	NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) GRCh37: Chr16:89717994 GRCh38: Chr16:89651586	CHMP1A	Q30*, A23V	not provided, Pontocerebellar hypoplasia type 8	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations