C2981140[trait identifier] AND "ClinGen Glaucoma Variant Curation Expe - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500833	NM_000261.2(MYOC):c.1515A>G (p.Ter505Trp)	MYOC	Single nucleotide variant (stop lost)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686794	NM_000261.2(MYOC):c.1504T>C (p.Ser502Pro)	MYOC (S502P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686793	NM_000261.2(MYOC):c.1496T>G (p.Ile499Ser)	MYOC (I499S)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686792	NM_000261.2(MYOC):c.1495A>T (p.Ile499Phe)	MYOC (I499F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1810378	NM_000261.2(MYOC):c.1456C>T (p.Leu486Phe)	MYOC (L486F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429763	NM_000261.2(MYOC):c.1452G>A (p.Lys484=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686789	NM_000261.2(MYOC):c.1442C>T (p.Pro481Leu)	MYOC (P481L)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1686787	NM_000261.2(MYOC):c.1441C>A (p.Pro481Thr)	MYOC (P481T)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686785	NM_000261.2(MYOC):c.1440C>G (p.Asn480Lys)	MYOC (N480K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic 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 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 2500834	NM_000261.2(MYOC):c.1432G>T (p.Asp478Tyr)	MYOC (D478Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 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 2575101	NM_000261.2(MYOC):c.1364C>A (p.Thr455Lys)	MYOC (T455K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686784	NM_000261.2(MYOC):c.1357del (p.Tyr453fs)	MYOC (Y453fs)	Deletion (frameshift variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2505295	NM_000261.2(MYOC):c.1348A>T (p.Asn450Tyr)	MYOC (N450Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2500840	NM_000261.2(MYOC):c.1342A>C (p.Thr448Pro)	MYOC (T448P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429757	NM_000261.2(MYOC):c.1313C>T (p.Thr438Ile)	MYOC (T438I)	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
Select item 2500839	NM_000261.2(MYOC):c.1298G>A (p.Cys433Tyr)	MYOC (C433Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 2429758	NM_000261.2(MYOC):c.1290C>T (p.Phe430=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686782	NM_000261.2(MYOC):c.1276G>T (p.Val426Phe)	MYOC (V426F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2570625	NM_000261.2(MYOC):c.1267A>C (p.Lys423Gln)	MYOC (K423Q)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 2429756	NM_000261.2(MYOC):c.1196G>A (p.Gly399Asp)	MYOC (G399D)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7957	NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)	MYOC (G399V)	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 1686795	NM_000261.2(MYOC):c.1187_1189dup (p.Glu396dup)	MYOC	Duplication (inframe_insertion)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1342966	NM_000261.2(MYOC):c.1187_1188insCCCAGA (p.Asp395_Glu396insAspPro)	MYOC	Insertion (inframe_insertion)	Glaucoma of childhood	GUncertain significance 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 2570632	NM_000261.2(MYOC):c.1151A>G (p.Asp384Gly)	MYOC (D384G)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2570631	NM_000261.2(MYOC):c.1150G>C (p.Asp384His)	MYOC (D384H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1342205	NM_000261.2(MYOC):c.1150G>A (p.Asp384Asn)	MYOC (D384N)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1342964	NM_000261.2(MYOC):c.1139A>G (p.Asp380Gly)	MYOC (D380G)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1342203	NM_000261.2(MYOC):c.1139A>C (p.Asp380Ala)	MYOC (D380A)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 1342204	NM_000261.2(MYOC):c.1138G>A (p.Asp380Asn)	MYOC (D380N)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 2500837	NM_000261.2(MYOC):c.1130C>A (p.Thr377Lys)	MYOC (T377K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429762	NM_000261.2(MYOC):c.1130C>G (p.Thr377Arg)	MYOC (T377R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	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 2500835	NM_000261.2(MYOC):c.1111T>G (p.Tyr371Asp)	MYOC (Y371D)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 242274	NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)	MYOC (Y371H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 2498112	NM_000261.2(MYOC):c.1107C>G (p.Phe369Leu)	MYOC (F369L)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1342963	NM_000261.2(MYOC):c.1100_1103delinsT (p.Gly367_Gln368delinsVal)	MYOC	Indel (inframe_indel)	Glaucoma of childhood	GLikely pathogenic 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 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 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 1342962	NM_000261.2(MYOC):c.1087G>A (p.Ala363Thr)	MYOC (A363T)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1013538	NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile)	MYOC (T353I)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign 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 1439558	NM_000261.2(MYOC):c.1021T>C (p.Ser341Pro)	MYOC (S341P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2498111	NM_000261.2(MYOC):c.1020G>A (p.Glu340=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign 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 1342199	NM_000261.2(MYOC):c.1009del (p.Gln337fs)	MYOC (Q337fs)	Deletion (frameshift variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2575098	NM_000261.2(MYOC):c.1008C>T (p.Phe336=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2570630	NM_000261.2(MYOC):c.1001T>C (p.Leu334Pro)	MYOC (L334P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1111192	NM_000261.2(MYOC):c.985G>A (p.Val329Met)	MYOC (V329M)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 1342198	NM_000261.2(MYOC):c.976G>C (p.Gly326Arg)	MYOC (G326R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic 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 1342969	NM_000261.2(MYOC):c.967G>A (p.Glu323Lys)	MYOC (E323K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2429765	NM_000261.2(MYOC):c.868A>G (p.Thr290Ala)	MYOC (T290A)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 1342197	NM_000261.2(MYOC):c.856T>C (p.Trp286Arg)	MYOC (W286R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
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 2429760	NM_000261.2(MYOC):c.821C>G (p.Pro274Arg)	MYOC (P274R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686788	NM_000261.2(MYOC):c.814C>G (p.Arg272Gly)	MYOC (R272G)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1810366	NM_000261.2(MYOC):c.781G>A (p.Glu261Lys)	MYOC (E261K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429759	NM_000261.2(MYOC):c.764T>C (p.Leu255Pro)	MYOC (L255P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1810365	NM_000261.2(MYOC):c.761C>G (p.Pro254Arg)	MYOC (P254R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1342967	NM_000261.2(MYOC):c.761C>T (p.Pro254Leu)	MYOC (P254L)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2429764	NM_000261.2(MYOC):c.760C>A (p.Pro254Thr)	MYOC (P254T)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 1342196	NM_000261.2(MYOC):c.752T>C (p.Val251Ala)	MYOC (V251A)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1342210	NM_000261.2(MYOC):c.736G>A (p.Gly246Arg)	MYOC (G246R)	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 2570626	NM_000261.2(MYOC):c.733T>G (p.Cys245Gly)	MYOC (C245G)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2570627	NM_000261.2(MYOC):c.731G>C (p.Gly244Ala)	MYOC (G244A)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1703214	NM_000261.2(MYOC):c.713G>A (p.Ser238Asn)	MYOC (S238N)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429761	NM_000261.2(MYOC):c.622G>T (p.Asp208Tyr)	MYOC (D208Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2575100	NM_000261.2(MYOC):c.599del (p.Arg200fs)	MYOC (R200fs)	Deletion (frameshift variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1723161	NM_000261.2(MYOC):c.518G>C (p.Ser173Thr)	MYOC (S173T)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance 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 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 2570622	NM_000261.2(MYOC):c.468G>A (p.Lys156=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1810375	NM_000261.2(MYOC):c.407G>T (p.Arg136Ile)	MYOC (R136I)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
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 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 2498109	NM_000261.2(MYOC):c.365G>C (p.Gly122Ala)	MYOC (G122A)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1302992	NM_000261.2(MYOC):c.365G>T (p.Gly122Val)	MYOC (G122V)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686781	NM_000261.2(MYOC):c.271C>T (p.Arg91Ter)	MYOC (R91*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 806285	NM_000261.2(MYOC):c.244C>T (p.Arg82Cys)	MYOC (R82C)	Single nucleotide variant (missense 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 2500830	NM_000261.2(MYOC):c.169A>G (p.Asn57Asp)	MYOC (N57D)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 631580	NM_000261.2(MYOC):c.158T>C (p.Val53Ala)	MYOC (V53A)	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 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 1703215	NM_000261.2(MYOC):c.73T>C (p.Cys25Arg)	MYOC (C25R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database

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