ClinVar for MedGen (Select 333974) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671648	NM_000261.2(MYOC):c.358del (p.Glu120fs)	MYOC (E120fs)	Deletion (frameshift variant)	Glaucoma 1, open angle, A	GUncertain significance
Select item 1930166	NM_000261.2(MYOC):c.472C>T (p.Arg158Ter)	MYOC (R158*)	Single nucleotide variant (nonsense)	Glaucoma 1, open angle, A +1 more	GConflicting classifications of pathogenicity
Select item 1803197	NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)	MYOC (N450S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	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 1698736	NM_000261.2(MYOC):c.844del (p.Gln282fs)	MYOC (Q282fs)	Deletion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1698724	NM_000261.2(MYOC):c.526del (p.Glu176fs)	MYOC (E176fs)	Deletion (frameshift variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 1342202	NM_000261.2(MYOC):c.1130C>T (p.Thr377Met)	MYOC (T377M)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic 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 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 1173106	NM_000261.2(MYOC):c.1435T>C (p.Tyr479His)	MYOC (Y479H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 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 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 876939	NM_000261.2(MYOC):c.878C>A (p.Thr293Lys)	MYOC (T293K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	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 876022	NM_000261.2(MYOC):c.611C>T (p.Thr204Met)	MYOC (T204M)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	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 876020	NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)	MYOC (D208E)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GLikely benign 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 875955	NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)	MYOC (E352K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GBenign 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 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 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 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 875031	NM_000261.2(MYOC):c.*73G>C	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GBenign
Select item 874205	NM_000261.2(MYOC):c.369C>T (p.Thr123=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874204	NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)	MYOC (R158Q)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874154	NM_000261.2(MYOC):c.864C>T (p.Ile288=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874097	NM_000261.2(MYOC):c.*273G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
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 625855	NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)	MYOC (E385K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 403218	NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)	MYOC (K398R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 293724	NM_000261.2(MYOC):c.39T>G (p.Pro13=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign 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 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 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 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 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 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 293717	NM_000261.2(MYOC):c.477A>G (p.Leu159=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign 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 293715	NM_000261.2(MYOC):c.648G>A (p.Lys216=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	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 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 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 293711	NM_000261.2(MYOC):c.975G>A (p.Thr325=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign 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 293709	NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293708	NM_000261.2(MYOC):c.1188G>A (p.Glu396=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 293707	NM_000261.2(MYOC):c.*71G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293706	NM_000261.2(MYOC):c.*182C>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293705	NM_000261.2(MYOC):c.*188C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293704	NM_000261.2(MYOC):c.*241A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 293703	NM_000261.2(MYOC):c.*331A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 293702	NM_000261.2(MYOC):c.*426C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 196241	NM_000261.2(MYOC):c.855G>T (p.Thr285=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 193067	NM_000261.2(MYOC):c.366C>T (p.Gly122=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 193066	NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)	MYOC (R76K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 30205	NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn)	MYOC (I477N)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7961	NM_000261.2(MYOC):c.1138G>C (p.Asp380His)	MYOC (D380H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7960	NM_000261.2(MYOC):c.754G>A (p.Gly252Arg)	MYOC (G252R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7959	NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr)	MYOC (C245Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7958	NM_000261.2(MYOC):c.144G>T (p.Gln48His)	MYOC (Q48H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 7956	NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)	MYOC (C433R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7955	NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)	MYOC (R46*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 7954	NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu)	MYOC (K423E)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7953	NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg)	MYOC (Q337R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7952	NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg)	MYOC (G367R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7951	NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys)	MYOC (N480K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7950	NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser)	MYOC (I477S)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7949	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	MYOC (Q368*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7948	NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)	MYOC (P370L)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7947	NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)	MYOC (G364V)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7946	NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)	MYOC (Y437H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database

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Items: 74