ClinVar for MedGen (Select 340513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065690	NM_005708.5(GPC6):c.1193T>G (p.Val398Gly)	GPC6 (V398G)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 3065600	NM_005708.5(GPC6):c.49C>T (p.Leu17Phe)	GPC6 (L17F)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 1806178	NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)	GPC6 (E410K)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 1474091	NM_005708.5(GPC6):c.485A>G (p.Asn162Ser)	GPC6, GPC6-AS2 (N162S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 883572	NM_005708.5(GPC6):c.*1897G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 883571	NM_005708.5(GPC6):c.*1792G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 883570	NM_005708.5(GPC6):c.*1693C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 883524	NM_005708.5(GPC6):c.*271T>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 883523	NM_005708.5(GPC6):c.*254C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 883522	NM_005708.5(GPC6):c.*38A>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GLikely benign
Select item 883473	NM_005708.5(GPC6):c.284G>A (p.Arg95His)	GPC6 (R95H)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 883472	NM_005708.5(GPC6):c.141C>T (p.Ile47=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882828	NM_005708.5(GPC6):c.*3639G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882827	NM_005708.5(GPC6):c.*3623G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882826	NM_005708.5(GPC6):c.*3571T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882825	NM_005708.5(GPC6):c.*3497G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882824	NM_005708.5(GPC6):c.*3308G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882823	NM_005708.5(GPC6):c.*3234A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882785	NM_005708.5(GPC6):c.*1528G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882784	NM_005708.5(GPC6):c.*1457C>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882733	NM_005708.5(GPC6):c.*22A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882732	NM_005708.5(GPC6):c.1566C>T (p.Pro522=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882731	NM_005708.5(GPC6):c.1512C>T (p.Asp504=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia +1 more	GConflicting classifications of pathogenicity
Select item 882694	NM_005708.5(GPC6):c.-113G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882693	NM_005708.5(GPC6):c.-248G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881675	NM_005708.5(GPC6):c.*3118A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881674	NM_005708.5(GPC6):c.*3031G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881673	NM_005708.5(GPC6):c.*2791G>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881672	NM_005708.5(GPC6):c.*2646T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881671	NM_005708.5(GPC6):c.*2582C>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881622	NM_005708.5(GPC6):c.*1375C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881582	NM_005708.5(GPC6):c.1436A>G (p.Asn479Ser)	GPC6 (N479S)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881581	NM_005708.5(GPC6):c.1289+13C>T	GPC6	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881529	NM_005708.5(GPC6):c.-478C>G	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881255	NM_005708.5(GPC6):c.*4424T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881206	NM_005708.5(GPC6):c.*2465A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 881205	NM_005708.5(GPC6):c.*2455C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881204	NM_005708.5(GPC6):c.*2305C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881203	NM_005708.5(GPC6):c.*2269G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881202	NM_005708.5(GPC6):c.*2212T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881152	NM_005708.5(GPC6):c.*1035C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881151	NM_005708.5(GPC6):c.*1032C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881150	NM_005708.5(GPC6):c.*734C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881112	NM_005708.5(GPC6):c.1037C>T (p.Pro346Leu)	GPC6 (P346L)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 881111	NM_005708.5(GPC6):c.711+7G>A	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 716177	NM_005708.5(GPC6):c.64G>A (p.Gly22Arg)	GPC6 (G22R)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 595635	NM_005708.5(GPC6):c.256C>T (p.Leu86Phe)	GPC6 (L86F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 312611	NM_005708.5(GPC6):c.*4656T>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312610	NM_005708.5(GPC6):c.*4547G>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312609	NM_005708.5(GPC6):c.*4476A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312608	NM_005708.5(GPC6):c.*4239A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312607	NM_005708.5(GPC6):c.*4236G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312606	NM_005708.5(GPC6):c.*4182C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312605	NM_005708.5(GPC6):c.*4169A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GLikely benign
Select item 312604	NM_005708.5(GPC6):c.*4066A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 312603	NM_005708.5(GPC6):c.*3869A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312602	NM_005708.5(GPC6):c.*3833G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312601	NM_005708.5(GPC6):c.*3723T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312600	NM_005708.5(GPC6):c.*3716A>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312599	NM_005708.5(GPC6):c.*3701G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312598	NM_005708.5(GPC6):c.*3693A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312597	NM_005708.5(GPC6):c.*3439T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312595	NM_005708.5(GPC6):c.*2852C>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312594	NM_005708.5(GPC6):c.*2799G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312593	NM_005708.5(GPC6):c.*2605C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312592	NM_005708.5(GPC6):c.*2407A>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312591	NM_005708.5(GPC6):c.*2299A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312590	NM_005708.5(GPC6):c.*2240G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312589	NM_005708.5(GPC6):c.*2031A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312588	NM_005708.5(GPC6):c.*1983T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312587	NM_005708.5(GPC6):c.*1800T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312586	NM_005708.5(GPC6):c.*1675C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312584	NM_005708.5(GPC6):c.*1665C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312583	NM_005708.5(GPC6):c.*1610A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312582	NM_005708.5(GPC6):c.*1474A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312581	NM_005708.5(GPC6):c.*1473T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312580	NM_005708.5(GPC6):c.*1472G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312579	NM_005708.5(GPC6):c.*1439T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312578	NM_005708.5(GPC6):c.*1419C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312577	NM_005708.5(GPC6):c.*1297C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312576	NM_005708.5(GPC6):c.*1297C>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312575	NM_005708.5(GPC6):c.*1261G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 312574	NM_005708.5(GPC6):c.*1225C>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312573	NM_005708.5(GPC6):c.*1188T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312572	NM_005708.5(GPC6):c.*1169T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312571	NM_005708.5(GPC6):c.*1094T>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312570	NM_005708.5(GPC6):c.*1026T>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312567	NM_005708.5(GPC6):c.*672A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312566	NM_005708.5(GPC6):c.*522G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312565	NM_005708.5(GPC6):c.*422A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312564	NM_005708.5(GPC6):c.*385G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312563	NM_005708.5(GPC6):c.*338A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312559	NM_005708.5(GPC6):c.*255G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312558	NM_005708.5(GPC6):c.*135T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312557	NM_005708.5(GPC6):c.*134A>G	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312556	NM_005708.5(GPC6):c.*126G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GLikely benign
Select item 312555	NM_005708.5(GPC6):c.1601G>A (p.Arg534His)	GPC6 (R534H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 312554	NM_005708.5(GPC6):c.1570C>T (p.Arg524Trp)	GPC6 (R524W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 312553	NM_005708.5(GPC6):c.1524G>A (p.Thr508=)	GPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312552	NM_005708.5(GPC6):c.1496G>A (p.Ser499Asn)	GPC6 (S499N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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