ClinVar for MedGen (Select 1676187) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066352	NM_145059.3(FCSK):c.2707C>T (p.Gln903Ter)	FCSK (Q903*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance
Select item 3065568	NM_145059.3(FCSK):c.1000_1018del (p.Glu335fs)	FCSK (E335fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation with defective fucosylation 2	GLikely pathogenic
Select item 3065139	NM_145059.3(FCSK):c.956-1G>A	FCSK	Single nucleotide variant (splice acceptor variant)	Congenital disorder of glycosylation with defective fucosylation 2	GLikely pathogenic
Select item 3065033	NM_145059.3(FCSK):c.286G>A (p.Gly96Ser)	FCSK (G96S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance
Select item 2689062	NM_145059.3(FCSK):c.1892A>G (p.Asn631Ser)	FCSK (N631S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1985410	NM_145059.3(FCSK):c.221G>A (p.Arg74Gln)	FCSK (R74Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2 +2 more	GUncertain significance
Select item 1705108	NM_145059.3(FCSK):c.1407-1G>C	FCSK	Single nucleotide variant (splice acceptor variant)	Congenital disorder of glycosylation with defective fucosylation 2 +2 more	GConflicting classifications of pathogenicity
Select item 1703172	NM_145059.3(FCSK):c.669_670del (p.Val225fs)	FCSK (V225fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation with defective fucosylation 2	GLikely pathogenic
Select item 1334068	NM_145059.3(FCSK):c.1640G>A (p.Arg547Gln)	FCSK (R547Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance
Select item 1285285	NM_145059.3(FCSK):c.1428T>C (p.Pro476=)	FCSK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1050808	NM_145059.3(FCSK):c.379C>A (p.Leu127Met)	FCSK (L127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050807	NM_145059.3(FCSK):c.394G>C (p.Asp132His)	FCSK (D132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031188	NM_145059.3(FCSK):c.2221C>T (p.Arg741Ter)	FCSK (R741*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation with defective fucosylation 2	GLikely pathogenic
Select item 1031187	NM_145059.3(FCSK):c.2186A>G (p.Tyr729Cys)	FCSK (Y729C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance
Select item 1031186	NM_145059.3(FCSK):c.1955C>T (p.Ala652Val)	FCSK (A652V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance
Select item 619035	NM_145059.3(FCSK):c.2980A>C (p.Lys994Gln)	FCSK (K994Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GPathogenic
Select item 619034	NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	FCSK (R683C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2 +1 more	GConflicting classifications of pathogenicity
Select item 619033	NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	FCSK (S223P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 2	GUncertain significance