"OMIM"[submitter] AND "SLC35A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4844	NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]	SLC35A1 (V93fs +1 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A1-congenital disorder of glycosylation	GPathogenic
Select item 488412	NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)	SLC35A1 (Q101H)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic
Select item 1703752	NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)	SLC35A1 (S147P)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic
Select item 488413	NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)	SLC35A1 (T156R)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 488414	NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)	SLC35A1 (E196K)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 4843	NM_006416.5(SLC35A1):c.752-157_752-156insCTCA	SLC35A1	Insertion (intron variant)	not provided	GBenign

ClinVar