ClinVar for MedGen (Select 482595) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15099411.	NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu) GRCh37: Chr3:155546144 GRCh38: Chr3:155828355	SLC33A1	S400L, S502L	not provided, Congenital cataract-hearing loss-severe developmental delay syndrome, Hereditary spastic paraplegia 42, Spastic paraplegia, Inborn genetic diseases	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6847602.	NM_004733.4(SLC33A1):c.1474_1482+9del GRCh37: Chr3:155547468-155547485 GRCh38: Chr3:155829679-155829696	SLC33A1		Congenital cataract-hearing loss-severe developmental delay syndrome	Pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 6847593.	NM_004733.4(SLC33A1):c.1267-1G>A GRCh37: Chr3:155547693 GRCh38: Chr3:155829904	SLC33A1		Congenital cataract-hearing loss-severe developmental delay syndrome	Pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 6847584.	NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter) GRCh37: Chr3:155551696 GRCh38: Chr3:155833907	SLC33A1	H304D, Y366*	Congenital cataract-hearing loss-severe developmental delay syndrome	Pathogenic (Aug 1, 2012)	no assertion criteria provided
Select item 6847575.	NM_004733.4(SLC33A1):c.542_543del (p.Val181fs) GRCh37: Chr3:155571244-155571245 GRCh38: Chr3:155853455-155853456	SLC33A1	V181fs	Congenital cataract-hearing loss-severe developmental delay syndrome	not provided	no assertion provided
Select item 3438756.	NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) GRCh37: Chr3:155547508 GRCh38: Chr3:155829719	SLC33A1	N484T, N382T	Spastic paraplegia, not provided, Congenital cataract-hearing loss-severe developmental delay syndrome, Hereditary spastic paraplegia 42, Hereditary spastic paraplegia, not specified	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2595287.	NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly) GRCh37: Chr3:155571275 GRCh38: Chr3:155853486	SLC33A1	D171G	not provided, Congenital cataract-hearing loss-severe developmental delay syndrome, Spastic paraplegia, not specified, Hereditary spastic paraplegia 42	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 303788.	NM_004733.4(SLC33A1):c.614dup (p.Leu205fs) GRCh37: Chr3:155571172-155571173 GRCh38: Chr3:155853383-155853384	SLC33A1	L205fs	Congenital cataract-hearing loss-severe developmental delay syndrome	Pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 303759.	NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) GRCh37: Chr3:155571459 GRCh38: Chr3:155853670	SLC33A1	A110P	Congenital cataract-hearing loss-severe developmental delay syndrome	Pathogenic (Jan 13, 2012)	no assertion criteria provided