"autosomal recessive omodysplasia"[Disease/Phenotype] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312529	NM_005708.5(GPC6):c.-623G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia +1 more	GBenign
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 312530	NM_005708.5(GPC6):c.-442C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312531	NM_005708.5(GPC6):c.-320C>A	GPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 312532	NM_005708.5(GPC6):c.-307T>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 312533	NM_005708.5(GPC6):c.-137C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312534	NM_005708.5(GPC6):c.-133G>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
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 312535	NM_005708.5(GPC6):c.-100G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312536	NM_005708.5(GPC6):c.-69C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312537	NM_005708.5(GPC6):c.-23G>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 282088	NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)	GPC6 (W4R)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia +3 more	GBenign/Likely benign
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 312538	NM_005708.5(GPC6):c.49C>A (p.Leu17Ile)	GPC6 (L17I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 883472	NM_005708.5(GPC6):c.141C>T (p.Ile47=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312539	NM_005708.5(GPC6):c.161-4G>T	GPC6	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
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 883473	NM_005708.5(GPC6):c.284G>A (p.Arg95His)	GPC6 (R95H)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 5555	NM_005708.3(GPC6):c.320_711del	GPC6, GPC6-AS2	Deletion	Autosomal recessive omodysplasia	GPathogenic
Select item 5554	NM_005708.3(GPC6):c.320_711del	GPC6, GPC6-AS2	Deletion	Autosomal recessive omodysplasia	GPathogenic
Select item 1474091	NM_005708.5(GPC6):c.485A>G (p.Asn162Ser)	GPC6, GPC6-AS2 (N162S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312540	NM_005708.5(GPC6):c.585C>T (p.Asp195=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 5552	NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)	GPC6, GPC6-AS2 (R234*)	Single nucleotide variant (nonsense)	Autosomal recessive omodysplasia	GPathogenic
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 5550	NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT	GPC6	Indel	Autosomal recessive omodysplasia	GPathogenic
Select item 5553	NM_005708.3(GPC6):c.712_877dup	GPC6	Duplication	Autosomal recessive omodysplasia	GPathogenic
Select item 5549	NM_005708.5(GPC6):c.778del (p.Leu260fs)	GPC6 (L260fs)	Deletion (frameshift variant)	Autosomal recessive omodysplasia	GPathogenic
Select item 5551	NC_000013.11:g.94252984_94352299del99316insCTA	GPC6, LOC130009952	Indel	Autosomal recessive omodysplasia	GPathogenic
Select item 312541	NM_005708.5(GPC6):c.991A>T (p.Met331Leu)	GPC6 (M331L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 312542	NM_005708.5(GPC6):c.1033A>G (p.Lys345Glu)	GPC6 (K345E)	Single nucleotide variant (missense 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 312543	NM_005708.5(GPC6):c.1088G>A (p.Arg363His)	GPC6 (R363H)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 287156	NM_005708.5(GPC6):c.1129G>A (p.Ala377Thr)	GPC6 (A377T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312544	NM_005708.5(GPC6):c.1137A>C (p.Thr379=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312545	NM_005708.5(GPC6):c.1162A>G (p.Ile388Val)	GPC6 (I388V)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
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 312546	NM_005708.5(GPC6):c.1216A>G (p.Ile406Val)	GPC6 (I406V)	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 312547	NM_005708.5(GPC6):c.1234G>A (p.Val412Met)	GPC6 (V412M)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 312548	NM_005708.5(GPC6):c.1248G>A (p.Thr416=)	GPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 312549	NM_005708.5(GPC6):c.1272C>T (p.Asn424=)	GPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881581	NM_005708.5(GPC6):c.1289+13C>T	GPC6	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312550	NM_005708.5(GPC6):c.1341C>T (p.Pro447=)	GPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 312551	NM_005708.5(GPC6):c.1485A>T (p.Ser495=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia +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)	Autosomal recessive omodysplasia +1 more	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 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 882732	NM_005708.5(GPC6):c.1566C>T (p.Pro522=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	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 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 882733	NM_005708.5(GPC6):c.*22A>G	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 312556	NM_005708.5(GPC6):c.*126G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GLikely benign
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 312558	NM_005708.5(GPC6):c.*135T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
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 312559	NM_005708.5(GPC6):c.*255G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 883524	NM_005708.5(GPC6):c.*271T>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 312564	NM_005708.5(GPC6):c.*385G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
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 312566	NM_005708.5(GPC6):c.*522G>A	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 881150	NM_005708.5(GPC6):c.*734C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
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 881151	NM_005708.5(GPC6):c.*1032C>T	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 312571	NM_005708.5(GPC6):c.*1094T>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
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 312573	NM_005708.5(GPC6):c.*1188T>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
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 312575	NM_005708.5(GPC6):c.*1261G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GLikely benign
Select item 312577	NM_005708.5(GPC6):c.*1297C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	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 881622	NM_005708.5(GPC6):c.*1375C>T	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 312579	NM_005708.5(GPC6):c.*1439T>C	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 312580	NM_005708.5(GPC6):c.*1472G>C	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 312582	NM_005708.5(GPC6):c.*1474A>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 312583	NM_005708.5(GPC6):c.*1610A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312584	NM_005708.5(GPC6):c.*1665C>A	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312586	NM_005708.5(GPC6):c.*1675C>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
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 883571	NM_005708.5(GPC6):c.*1792G>A	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 883572	NM_005708.5(GPC6):c.*1897G>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
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 312589	NM_005708.5(GPC6):c.*2031A>C	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
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 312590	NM_005708.5(GPC6):c.*2240G>A	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 312591	NM_005708.5(GPC6):c.*2299A>G	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 312592	NM_005708.5(GPC6):c.*2407A>T	GPC6	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive omodysplasia	GBenign

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