ClinVar for MedGen (Select 370234) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21676801.	NM_006416.5(SLC35A1):c.887-20A>T GRCh37: Chr6:88221097 GRCh38: Chr6:87511379	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 21667782.	NM_006416.5(SLC35A1):c.963A>G (p.Thr321=) GRCh37: Chr6:88221193 GRCh38: Chr6:87511475	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 20645233.	NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr) GRCh37: Chr6:88182728 GRCh38: Chr6:87473010	SLC35A1	A3T	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 20547234.	NM_006416.5(SLC35A1):c.508-10A>G GRCh37: Chr6:88216090 GRCh38: Chr6:87506372	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 20373685.	NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met) GRCh37: Chr6:88218862 GRCh38: Chr6:87509144	SLC35A1	I226M, I285M	Inborn genetic diseases, SLC35A1-congenital disorder of glycosylation	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19766466.	NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del) GRCh37: Chr6:88216114-88216116 GRCh38: Chr6:87506396-87506398	SLC35A1	L176del	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 19384567.	NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter) GRCh37: Chr6:88210996 GRCh38: Chr6:87501278	SLC35A1	Q159*	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 19137768.	NM_006416.5(SLC35A1):c.574+17T>C GRCh37: Chr6:88216183 GRCh38: Chr6:87506465	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 17037529.	NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro) GRCh37: Chr6:88210960 GRCh38: Chr6:87501242	SLC35A1	S147P	SLC35A1-congenital disorder of glycosylation	Pathogenic (Sep 2, 2022)	no assertion criteria provided
Select item 167626410.	NM_006416.5(SLC35A1):c.379T>A (p.Cys127Ser) GRCh37: Chr6:88210900 GRCh38: Chr6:87501182	SLC35A1	C127S	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 164320811.	NM_006416.5(SLC35A1):c.887-9dup GRCh37: Chr6:88221097-88221098 GRCh38: Chr6:87511379-87511380	SLC35A1		SLC35A1-congenital disorder of glycosylation	Benign (Jun 4, 2022)	criteria provided, single submitter
Select item 162496312.	NM_006416.5(SLC35A1):c.16+19G>A GRCh37: Chr6:88182756 GRCh38: Chr6:87473038	SLC35A1		SLC35A1-congenital disorder of glycosylation	Benign (Nov 23, 2020)	criteria provided, single submitter
Select item 157925113.	NM_006416.5(SLC35A1):c.752-7A>G GRCh37: Chr6:88218752 GRCh38: Chr6:87509034	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 153885814.	NM_006416.5(SLC35A1):c.194+18T>C GRCh37: Chr6:88187275 GRCh38: Chr6:87477557	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Mar 11, 2021)	criteria provided, single submitter
Select item 152975015.	NM_006416.5(SLC35A1):c.546T>C (p.Ala182=) GRCh37: Chr6:88216138 GRCh38: Chr6:87506420	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 150888416.	NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu) GRCh37: Chr6:88218770 GRCh38: Chr6:87509052	SLC35A1	V255L, V196L	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 141814817.	NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser) GRCh37: Chr6:88221138 GRCh38: Chr6:87511420	SLC35A1	T244S, T303S	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 140188518.	NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp) GRCh37: Chr6:88221237 GRCh38: Chr6:87511519	SLC35A1	G277D, G336D	SLC35A1-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138569619.	NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu) GRCh37: Chr6:88218890 GRCh38: Chr6:87509172	SLC35A1	I236L, I295L	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 137980620.	NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe) GRCh37: Chr6:88187234 GRCh38: Chr6:87477516	SLC35A1	L57F	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 116655421.	NM_006416.5(SLC35A1):c.887-9del GRCh37: Chr6:88221098 GRCh38: Chr6:87511380	SLC35A1		SLC35A1-congenital disorder of glycosylation	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 111529322.	NM_006416.5(SLC35A1):c.752-9G>T GRCh37: Chr6:88218750 GRCh38: Chr6:87509032	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 110698123.	NM_006416.5(SLC35A1):c.378G>A (p.Pro126=) GRCh37: Chr6:88210899 GRCh38: Chr6:87501181	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 109636024.	NM_006416.5(SLC35A1):c.48C>T (p.Cys16=) GRCh37: Chr6:88187111 GRCh38: Chr6:87477393	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jan 29, 2019)	criteria provided, single submitter
Select item 97651225.	NM_006416.5(SLC35A1):c.512A>G (p.Glu171Gly) GRCh37: Chr6:88216104 GRCh38: Chr6:87506386	SLC35A1	E171G	SLC35A1-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 84936926.	NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile) GRCh37: Chr6:88221230 GRCh38: Chr6:87511512	SLC35A1	V275I, V334I	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 75997127.	NM_006416.5(SLC35A1):c.400T>C (p.Leu134=) GRCh37: Chr6:88210921 GRCh38: Chr6:87501203	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 74469828.	NM_006416.5(SLC35A1):c.558G>A (p.Leu186=) GRCh37: Chr6:88216150 GRCh38: Chr6:87506432	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 70358629.	NM_006416.5(SLC35A1):c.355-7T>C GRCh37: Chr6:88210869 GRCh38: Chr6:87501151	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 66587630.	NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met) GRCh37: Chr6:88218262 GRCh38: Chr6:87508544	SLC35A1	I233M	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 56689631.	NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser) GRCh37: Chr6:88216161 GRCh38: Chr6:87506443	SLC35A1	F190S	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 51373232.	NM_006416.5(SLC35A1):c.556T>C (p.Leu186=) GRCh37: Chr6:88216148 GRCh38: Chr6:87506430	SLC35A1		not specified, SLC35A1-congenital disorder of glycosylation	Likely benign (Apr 18, 2019)	criteria provided, multiple submitters, no conflicts
Select item 48841433.	NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) GRCh37: Chr6:88218149 GRCh38: Chr6:87508431	SLC35A1	E196K	SLC35A1-congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Feb 1, 2018)	no assertion criteria provided
Select item 48841334.	NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) GRCh37: Chr6:88210988 GRCh38: Chr6:87501270	SLC35A1	T156R	SLC35A1-congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Feb 1, 2018)	no assertion criteria provided
Select item 48841235.	NM_006416.5(SLC35A1):c.303G>C (p.Gln101His) GRCh37: Chr6:88210334 GRCh38: Chr6:87500616	SLC35A1	Q101H	SLC35A1-congenital disorder of glycosylation	Pathogenic (Feb 1, 2018)	no assertion criteria provided
Select item 46894436.	NM_006416.5(SLC35A1):c.887-8C>T GRCh37: Chr6:88221109 GRCh38: Chr6:87511391	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 46894337.	NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro) GRCh37: Chr6:88218764 GRCh38: Chr6:87509046	SLC35A1	A253P, A194P	SLC35A1-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 35821738.	NM_006416.5(SLC35A1):c.507+8A>G GRCh37: Chr6:88211036 GRCh38: Chr6:87501318	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 35821639.	NM_006416.5(SLC35A1):c.258G>A (p.Lys86=) GRCh37: Chr6:88210289 GRCh38: Chr6:87500571	SLC35A1		SLC35A1-congenital disorder of glycosylation	Likely benign (Jul 13, 2020)	criteria provided, single submitter
Select item 35821540.	NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) GRCh37: Chr6:88187196 GRCh38: Chr6:87477478	SLC35A1	T45A	not provided, SLC35A1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 19884141.	NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg) GRCh37: Chr6:88221120 GRCh38: Chr6:87511402	SLC35A1	L297R, L238R	Inborn genetic diseases, not provided, SLC35A1-congenital disorder of glycosylation	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9539442.	NM_006416.5(SLC35A1):c.887-14T>C GRCh37: Chr6:88221103 GRCh38: Chr6:87511385	RARS2, SLC35A1		not specified, Pontoneocerebellar hypoplasia, Congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9539343.	NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) GRCh37: Chr6:88182728 GRCh38: Chr6:87473010	SLC35A1	A3S	not specified, not provided, SLC35A1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 9539244.	NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) GRCh37: Chr6:88187082 GRCh38: Chr6:87477364	SLC35A1	N7H	not provided, not specified, SLC35A1-congenital disorder of glycosylation	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9539145.	NM_006416.5(SLC35A1):c.-18G>C GRCh37: Chr6:88182704 GRCh38: Chr6:87472986	SLC35A1		not specified, SLC35A1-congenital disorder of glycosylation	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 484446.	NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC] GRCh37: Chr6:88187210 Chr6:88210308 Chr6:88210311 GRCh38: Chr6:87477492 Chr6:87500590 Chr6:87500593	SLC35A1, SLC35A1, SLC35A1	V93fs, P94fs	SLC35A1-congenital disorder of glycosylation	Pathogenic (Apr 1, 2005)	no assertion criteria provided

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Items: 46