ClinVar for MedGen (Select 860832) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234963	NM_006280.3(SSR4):c.262-3C>G	SSR4	Single nucleotide variant (intron variant)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 2572630	NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)	SSR4 (R79* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GLikely pathogenic
Select item 2441661	NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)	SSR4 (W101* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 1810417	Multiple alleles	SSR4, PLXNB3 +3 more	Deletion	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 1806350	NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)	SSR4 (N143K +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1805820	NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)	SSR4 (Y161C +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1696447	NM_006280.3(SSR4):c.194C>T (p.Ala65Val)	SSR4 (A65V +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1333191	NM_006280.3(SSR4):c.269G>A (p.Trp90Ter)	SSR4 (W101* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 1308630	NM_006280.3(SSR4):c.418-2A>G	SSR4	Single nucleotide variant (splice acceptor variant)	SSR4-congenital disorder of glycosylation	GLikely pathogenic
Select item 1164036	NM_006280.3(SSR4):c.261+2_261+8del	SSR4	Deletion (splice donor variant)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 987741	Single allele	SSR4, SRPK3 +2 more	Deletion	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 986726	NM_001204526.1:c.1_185del	SSR4	Deletion	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 984389	NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)	SSR4 (Q81* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 976747	NM_006280.3(SSR4):c.141dup (p.Val48fs)	SSR4 (V48fs +2 more)	Duplication (frameshift variant +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 372146	NM_006280.3(SSR4):c.418-1G>A	SSR4	Single nucleotide variant (splice acceptor variant)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 372145	NM_006280.3(SSR4):c.417+1G>A	SSR4	Single nucleotide variant (splice donor variant)	SSR4-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 372144	NM_006280.3(SSR4):c.358_359del (p.Arg120fs)	SSR4 (R131fs +2 more)	Microsatellite (frameshift variant +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 372143	NM_006280.3(SSR4):c.187-301_352-15del	SSR4	Deletion (splice acceptor variant +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 209110	NM_006280.3(SSR4):c.317del (p.Phe106fs)	SSR4 (F117fs +2 more)	Deletion (frameshift variant +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic