ClinVar for MedGen (Select 18718) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696763	NM_001375978.1(CHRM3):c.-313+2514G>A	CHRM3	Single nucleotide variant (intron variant)	Prune belly syndrome	GUncertain significance
Select item 974798	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	CHRM3 (G118R)	Single nucleotide variant (missense variant)	Prune belly syndrome	GPathogenic
Select item 801015	NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)	FLNA (G2228V +1 more)	Single nucleotide variant (missense variant)	Prune belly syndrome	GLikely pathogenic
Select item 800569	NM_001110556.2(FLNA):c.6707G>A (p.Gly2236Glu)	FLNA (G2228E +1 more)	Single nucleotide variant (missense variant)	Prune belly syndrome	GUncertain significance
Select item 800568	NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr)	FLNA (C2152Y +1 more)	Single nucleotide variant (missense variant)	Prune belly syndrome	GLikely pathogenic
Select item 775168	NM_001375978.1(CHRM3):c.681T>C (p.Ser227=)	CHRM3	Single nucleotide variant (synonymous variant)	Prune belly syndrome +1 more	GLikely benign
Select item 773822	NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=)	CHRM3	Single nucleotide variant (synonymous variant)	Prune belly syndrome +1 more	GLikely benign
Select item 721096	NM_001375978.1(CHRM3):c.328C>T (p.Leu110=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 689482	NC_000017.11:g.12269251_12706280del	LINC00670, LOC125177420 +5 more	Deletion	Megabladder, congenital +1 more	GPathogenic
Select item 689481	NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs)	MYOCD (N351fs +1 more)	Deletion (frameshift variant)	Megabladder, congenital +1 more	GPathogenic
Select item 689480	NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)	MYOCD (R115* +1 more)	Single nucleotide variant (nonsense)	Megabladder, congenital +1 more	GPathogenic
Select item 689479	NM_001146312.2(MYOCD):c.[1589A>G;684dup]	MYOCD (S229fs +3 more)	Duplication (frameshift variant +1 more)	Prune belly syndrome	GPathogenic
Select item 29626	NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs)	CHRM3 (P392fs)	Indel (frameshift variant)	Prune belly syndrome	GPathogenic