ClinVar for MedGen (Select 18718) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16967631.	NM_001375978.1(CHRM3):c.-313+2514G>A GRCh37: Chr1:239711563 GRCh38: Chr1:239548263	CHRM3		Prune belly syndrome	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 9747982.	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg) GRCh37: Chr1:240071103 GRCh38: Chr1:239907803	CHRM3	G118R	Prune belly syndrome	Pathogenic (Aug 4, 2020)	no assertion criteria provided
Select item 8010153.	NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val) GRCh37: ChrX:153580611 GRCh38: ChrX:154352243	FLNA	G2228V, G2236V	Prune belly syndrome	Likely pathogenic	criteria provided, single submitter
Select item 8005694.	NM_001110556.2(FLNA):c.6707G>A (p.Gly2236Glu) GRCh37: ChrX:153580611 GRCh38: ChrX:154352243	FLNA	G2228E, G2236E	Prune belly syndrome	Uncertain significance	criteria provided, single submitter
Select item 8005685.	NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr) GRCh37: ChrX:153580944 GRCh38: ChrX:154352576	FLNA	C2152Y, C2160Y	Prune belly syndrome	Likely pathogenic	criteria provided, single submitter
Select item 7751686.	NM_001375978.1(CHRM3):c.681T>C (p.Ser227=) GRCh37: Chr1:240071432 GRCh38: Chr1:239908132	CHRM3		Prune belly syndrome, not provided	Likely benign (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7738227.	NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=) GRCh37: Chr1:240071903 GRCh38: Chr1:239908603	CHRM3		Prune belly syndrome, not provided	Likely benign (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7210968.	NM_001375978.1(CHRM3):c.328C>T (p.Leu110=) GRCh37: Chr1:240071079 GRCh38: Chr1:239907779	CHRM3		not provided, Prune belly syndrome	Likely benign (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6894829.	NC_000017.11:g.12269251_12706280del GRCh37: Chr17:12172568-12609597 GRCh38: Chr17:12269251-12706280	LINC00670, LOC125177420, LOC126862508, LOC130060297, LOC132090454, MYOCD, MYOCD-AS1		Megabladder, congenital, Prune belly syndrome	Pathogenic (Dec 23, 2019)	no assertion criteria provided
Select item 68948110.	NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs) GRCh37: Chr17:12649316-12649317 GRCh38: Chr17:12745999-12746000	MYOCD	N351fs, N272fs	Megabladder, congenital, Prune belly syndrome	Pathogenic (Dec 23, 2019)	no assertion criteria provided
Select item 68948011.	NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter) GRCh37: Chr17:12626253 GRCh38: Chr17:12722936	MYOCD	R115, R36	Megabladder, congenital, Prune belly syndrome	Pathogenic (Dec 23, 2019)	no assertion criteria provided
Select item 68947912.	NM_001146312.2(MYOCD):c.[1589A>G;684dup] GRCh37: Chr17:12642605-12642606 Chr17:12656194 GRCh38: Chr17:12739288-12739289 Chr17:12752877	MYOCD, MYOCD	S229fs, S150fs, E530G, E451G	Prune belly syndrome	Pathogenic (May 1, 2019)	no assertion criteria provided
Select item 2962613.	NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs) GRCh37: Chr1:240071924-240071935 GRCh38: Chr1:239908624-239908635	CHRM3	P392fs	Prune belly syndrome	Pathogenic (Nov 11, 2011)	no assertion criteria provided