C0017612[trait identifier] AND "ClinGen Glaucoma Variant Curation Expe - ClinVar

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Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168919	NM_000261.2(MYOC):c.1499A>G (p.Lys500Arg)	MYOC (K500R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2498108	NM_000261.2(MYOC):c.1492G>C (p.Asp498His)	MYOC (D498H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442279	NM_000261.2(MYOC):c.1486A>C (p.Thr496Pro)	MYOC (T496P)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505293	NM_000261.2(MYOC):c.1466_1467insC (p.Trp489fs)	MYOC (W489fs)	Insertion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505294	NM_000261.2(MYOC):c.1466G>A (p.Trp489Ter)	MYOC (W489*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500831	NM_000261.2(MYOC):c.1464C>T (p.Ala488=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2570621	NM_000261.2(MYOC):c.1463C>T (p.Ala488Val)	MYOC (A488V)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498107	NM_000261.2(MYOC):c.1447G>T (p.Glu483Ter)	MYOC (E483*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875032	NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)	MYOC (R470C)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570620	NM_000261.2(MYOC):c.1395C>G (p.Ile465Met)	MYOC (I465M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500841	NM_000261.2(MYOC):c.1373G>A (p.Gly458Asp)	MYOC (G458D)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875033	NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)	MYOC (V449I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498106	NM_000261.2(MYOC):c.1340C>T (p.Ala447Val)	MYOC (A447V)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498116	NM_000261.2(MYOC):c.1339G>A (p.Ala447Thr)	MYOC (A447T)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442278	NM_000261.2(MYOC):c.1317C>G (p.Val439=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498115	NM_000261.2(MYOC):c.1314C>T (p.Thr438=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505286	NM_000261.2(MYOC):c.1302C>T (p.Gly434=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1698837	NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu)	MYOC (F430L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500838	NM_000261.2(MYOC):c.1278C>T (p.Val426=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505290	NM_000261.2(MYOC):c.1274C>G (p.Ser425Ter)	MYOC (S425*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875954	NM_000261.2(MYOC):c.1272G>C (p.Gln424His)	MYOC (Q424H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575096	NM_000261.2(MYOC):c.1255A>G (p.Thr419Ala)	MYOC (T419A)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498114	NM_000261.2(MYOC):c.1240G>A (p.Glu414Lys)	MYOC (E414K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570619	NM_000261.2(MYOC):c.1185T>G (p.Asp395Glu)	MYOC (D395E)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570633	NM_000261.2(MYOC):c.1183G>A (p.Asp395Asn)	MYOC (D395N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442277	NM_000261.2(MYOC):c.1178G>A (p.Ser393Asn)	MYOC (S393N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505287	NM_000261.2(MYOC):c.1160G>A (p.Gly387Asp)	MYOC (G387D)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575093	NM_000261.2(MYOC):c.1136T>C (p.Ile379Thr)	MYOC (I379T)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442284	NM_000261.2(MYOC):c.1133A>G (p.Asp378Gly)	MYOC (D378G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498113	NM_000261.2(MYOC):c.1121G>T (p.Gly374Val)	MYOC (G374V)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505291	NM_000261.2(MYOC):c.1110G>A (p.Pro370=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2575099	NM_000261.2(MYOC):c.1085del (p.Gly362fs)	MYOC (G362fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875956	NM_000261.2(MYOC):c.1053C>T (p.Thr351=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2442283	NM_000261.2(MYOC):c.1035A>G (p.Ile345Met)	MYOC (I345M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570623	NM_000261.2(MYOC):c.1028C>A (p.Thr343Asn)	MYOC (T343N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442276	NM_000261.2(MYOC):c.1024A>G (p.Arg342Gly)	MYOC (R342G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498110	NM_000261.2(MYOC):c.1011G>T (p.Gln337His)	MYOC (Q337H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442274	NM_000261.2(MYOC):c.1009C>G (p.Gln337Glu)	MYOC (Q337E)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575097	NM_000261.2(MYOC):c.997A>T (p.Ser333Cys)	MYOC (S333C)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293710	NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)	MYOC (S331L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442271	NM_000261.2(MYOC):c.991T>A (p.Ser331Thr)	MYOC (S331T)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442269	NM_000261.2(MYOC):c.976G>A (p.Gly326Ser)	MYOC (G326S)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505288	NM_000261.2(MYOC):c.952C>T (p.Leu318=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442282	NM_000261.2(MYOC):c.938C>T (p.Ser313Phe)	MYOC (S313F)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1324771	NM_000261.2(MYOC):c.898G>T (p.Glu300Ter)	MYOC (E300*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442280	NM_000261.2(MYOC):c.891G>C (p.Gln297His)	MYOC (Q297H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505292	NM_000261.2(MYOC):c.879G>A (p.Thr293=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293712	NM_000261.2(MYOC):c.871G>A (p.Val291Ile)	MYOC (V291I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293713	NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)	MYOC (D289N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442268	NM_000261.2(MYOC):c.864C>G (p.Ile288Met)	MYOC (I288M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442267	NM_000261.2(MYOC):c.849G>A (p.Glu283=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1698736	NM_000261.2(MYOC):c.844del (p.Gln282fs)	MYOC (Q282fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 252960	NM_000261.2(MYOC):c.823A>T (p.Lys275Ter)	MYOC (K275*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442266	NM_000261.2(MYOC):c.822del (p.Lys275fs)	MYOC (K275fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570629	NM_000261.2(MYOC):c.816A>T (p.Arg272=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570628	NM_000261.2(MYOC):c.814C>T (p.Arg272Ter)	MYOC (R272*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875083	NM_000261.2(MYOC):c.801T>C (p.Tyr267=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2498105	NM_000261.2(MYOC):c.798G>A (p.Lys266=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442287	NM_000261.2(MYOC):c.780A>G (p.Ala260=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2442286	NM_000261.2(MYOC):c.757G>A (p.Glu253Lys)	MYOC (E253K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575092	NM_000261.2(MYOC):c.741del (p.Glu247fs)	MYOC (E247fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293714	NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)	MYOC (T243N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442275	NM_000261.2(MYOC):c.719A>G (p.Glu240Gly)	MYOC (E240G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500836	NM_000261.2(MYOC):c.683T>C (p.Leu228Ser)	MYOC (L228S)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442285	NM_000261.2(MYOC):c.654G>A (p.Glu218=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875084	NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)	MYOC (E218K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442273	NM_000261.2(MYOC):c.644T>C (p.Leu215Pro)	MYOC (L215P)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2442272	NM_000261.2(MYOC):c.644T>A (p.Leu215Gln)	MYOC (L215Q)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 876021	NM_000261.2(MYOC):c.612G>A (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 728934	NM_000261.2(MYOC):c.612G>T (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GBenign FDA Recognized database
Select item 1324770	NM_000261.2(MYOC):c.604+1G>C	MYOC	Single nucleotide variant (splice donor variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 876999	NM_000261.2(MYOC):c.600A>G (p.Arg200=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 877000	NM_000261.2(MYOC):c.573T>A (p.Thr191=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293716	NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)	MYOC (D190Y)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1313921	NM_000261.2(MYOC):c.547G>A (p.Gly183Ser)	MYOC (G183S)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442265	NM_000261.2(MYOC):c.532G>A (p.Ala178Thr)	MYOC (A178T)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442281	NM_000261.2(MYOC):c.498G>C (p.Leu166=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293718	NM_000261.2(MYOC):c.440G>A (p.Arg147Gln)	MYOC (R147Q)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2442270	NM_000261.2(MYOC):c.423C>T (p.Ala141=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505289	NM_000261.2(MYOC):c.384G>C (p.Arg128=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442264	NM_000261.2(MYOC):c.382C>T (p.Arg128Trp)	MYOC (R128W)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442263	NM_000261.2(MYOC):c.375del (p.Arg125fs)	MYOC (R125fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442290	NM_000261.2(MYOC):c.366C>A (p.Gly122=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1048923	NM_000261.2(MYOC):c.365G>A (p.Gly122Asp)	MYOC (G122D)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 631579	NM_000261.2(MYOC):c.343G>T (p.Glu115Ter)	MYOC (E115*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293719	NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)	MYOC (E112G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293720	NM_000261.2(MYOC):c.304T>A (p.Leu102Met)	MYOC (L102M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293721	NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)	MYOC (T80N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293722	NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)	MYOC (Q75R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575094	NM_000261.2(MYOC):c.216T>G (p.His72Gln)	MYOC (H72Q)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2442289	NM_000261.2(MYOC):c.210C>T (p.Val70=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575095	NM_000261.2(MYOC):c.154A>G (p.Ser52Gly)	MYOC (S52G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2442288	NM_000261.2(MYOC):c.116A>G (p.Lys39Arg)	MYOC (K39R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293723	NM_000261.2(MYOC):c.114G>A (p.Arg38=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 1684937	NM_000261.2(MYOC):c.57G>T (p.Gln19His)	MYOC (Q19H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 876089	NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)	MYOC (G12R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 877041	NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)	MYOC (F11L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570624	NM_000261.2(MYOC):c.14G>A (p.Cys5Tyr)	MYOC (C5Y)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database

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Items: 98