ClinVar for MedGen (Select 370234) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2974340	NM_006416.5(SLC35A1):c.639G>A (p.Met213Ile)	SLC35A1 (M213I)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 2903816	NM_006416.5(SLC35A1):c.699T>C (p.Ile233=)	SLC35A1	Single nucleotide variant (synonymous variant +1 more)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2882899	NM_006416.5(SLC35A1):c.355-11_355-8del	SLC35A1	Deletion (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2839045	NM_006416.5(SLC35A1):c.300T>C (p.Val100=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2839009	NM_006416.5(SLC35A1):c.194+17A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2779460	NM_006416.5(SLC35A1):c.195-16C>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2167680	NM_006416.5(SLC35A1):c.887-20A>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2166778	NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2064523	NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr)	SLC35A1 (A3T)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 2054723	NM_006416.5(SLC35A1):c.508-10A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2037368	NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met)	SLC35A1 (I226M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1976646	NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del)	SLC35A1 (L176del)	Microsatellite (inframe_deletion)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1938456	NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter)	SLC35A1 (Q159*)	Single nucleotide variant (nonsense)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1913776	NM_006416.5(SLC35A1):c.574+17T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
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 1676264	NM_006416.5(SLC35A1):c.379T>A (p.Cys127Ser)	SLC35A1 (C127S)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1643208	NM_006416.5(SLC35A1):c.887-9dup	SLC35A1	Duplication (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1624963	NM_006416.5(SLC35A1):c.16+19G>A	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1579251	NM_006416.5(SLC35A1):c.752-7A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1538858	NM_006416.5(SLC35A1):c.194+18T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1529750	NM_006416.5(SLC35A1):c.546T>C (p.Ala182=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1508884	NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu)	SLC35A1 (V255L +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1418148	NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser)	SLC35A1 (T244S +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1401885	NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp)	SLC35A1 (G277D +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1385696	NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu)	SLC35A1 (I236L +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1379806	NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe)	SLC35A1 (L57F)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1166554	NM_006416.5(SLC35A1):c.887-9del	SLC35A1	Deletion (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1115293	NM_006416.5(SLC35A1):c.752-9G>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1106981	NM_006416.5(SLC35A1):c.378G>A (p.Pro126=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1096360	NM_006416.5(SLC35A1):c.48C>T (p.Cys16=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 976512	NM_006416.5(SLC35A1):c.512A>G (p.Glu171Gly)	SLC35A1 (E171G)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 849369	NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile)	SLC35A1 (V275I +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 759971	NM_006416.5(SLC35A1):c.400T>C (p.Leu134=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 744698	NM_006416.5(SLC35A1):c.558G>A (p.Leu186=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 703586	NM_006416.5(SLC35A1):c.355-7T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 665876	NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met)	SLC35A1 (I233M)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 566896	NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser)	SLC35A1 (F190S)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 513732	NM_006416.5(SLC35A1):c.556T>C (p.Leu186=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation +2 more	GLikely benign
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 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 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 468944	NM_006416.5(SLC35A1):c.887-8C>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 468943	NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro)	SLC35A1 (A253P +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 388383	NM_006416.5(SLC35A1):c.960T>G (p.Thr320=)	SLC35A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 358217	NM_006416.5(SLC35A1):c.507+8A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 358216	NM_006416.5(SLC35A1):c.258G>A (p.Lys86=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 358215	NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)	SLC35A1 (T45A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198841	NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg)	SLC35A1 (L297R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 95394	NM_006416.5(SLC35A1):c.887-14T>C	RARS2, SLC35A1	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +3 more	GBenign/Likely benign
Select item 95393	NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser)	SLC35A1 (A3S)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 95392	NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)	SLC35A1 (N7H)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 95391	NM_006416.5(SLC35A1):c.-18G>C	SLC35A1	Single nucleotide variant (5 prime UTR variant)	SLC35A1-congenital disorder of glycosylation +1 more	GBenign
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

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Links from MedGen

Items: 53