ClinVar for MedGen (Select 1779113) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442095	NM_005632.3(CAPN15):c.2521G>A (p.Val841Met)	CAPN15 (V841M)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GUncertain significance
Select item 2442094	NM_005632.3(CAPN15):c.55G>T (p.Gly19Cys)	CAPN15 (G19C)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GUncertain significance
Select item 2321603	NM_005632.3(CAPN15):c.2599C>T (p.Arg867Cys)	CAPN15 (R867C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1810410	NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)	CAPN15 (R736*)	Single nucleotide variant (nonsense)	Oculogastrointestinal-neurodevelopmental syndrome	GLikely pathogenic
Select item 1074294	NM_005632.3(CAPN15):c.2904+1_2905-45del	CAPN15	Deletion (splice donor variant)	Oculogastrointestinal-neurodevelopmental syndrome	GPathogenic
Select item 1074293	NM_005632.3(CAPN15):c.1838C>T (p.Ser613Leu)	CAPN15 (S613L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1074292	NM_005632.3(CAPN15):c.3083G>A (p.Arg1028Lys)	CAPN15 (R1028K)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GPathogenic
Select item 1074291	NM_005632.3(CAPN15):c.2398C>T (p.Arg800Trp)	CAPN15	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GPathogenic
Select item 1074290	NM_005632.3(CAPN15):c.2159C>T (p.Ser720Phe)	CAPN15	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GPathogenic
Select item 1074289	NM_005632.3(CAPN15):c.2905G>A (p.Gly969Ser)	CAPN15 (G969S)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GPathogenic