ClinVar for MedGen (Select 860411) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24356471.	NM_001364564.1(SALL2):c.2286GGA[1] (p.Glu766_Glu767del) GRCh37: Chr14:21991562-21991567 GRCh38: Chr14:21523428-21523433	SALL2		Coloboma, ocular, autosomal recessive	Uncertain significance (Mar 27, 2020)	criteria provided, single submitter
Select item 10329932.	NM_001364564.1(SALL2):c.662C>T (p.Pro221Leu) GRCh37: Chr14:21993194 GRCh38: Chr14:21525060	SALL2	P221L, P223L	Coloboma, ocular, autosomal recessive	Uncertain significance (Feb 15, 2018)	criteria provided, single submitter
Select item 1439463.	NM_001364564.1(SALL2):c.79G>T (p.Glu27Ter) GRCh37: Chr14:21993777 GRCh38: Chr14:21525643	SALL2	E29, E27	Coloboma, ocular, autosomal recessive	Pathogenic (May 15, 2014)	no assertion criteria provided

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