ClinVar (all) for Orgtrack (Select 500152) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339960	NM_001034853.2(RPGR):c.1415-9A>G	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1275754	NM_000329.3(RPE65):c.93A>G (p.Thr31=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 973782	NM_001853.4(COL9A3):c.1107+1G>C	COL9A3	Single nucleotide variant (splice donor variant)	Lattice retinal degeneration +1 more	GLikely pathogenic
Select item 932294	NM_001453.3(FOXC1):c.478_482dup (p.Met161fs)	FOXC1 (M161fs)	Duplication (frameshift variant)	Anterior segment dysgenesis	GPathogenic
Select item 932293	NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val)	CPAMD8 (G1003V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis	GLikely pathogenic
Select item 932292	NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter)	FOXC1 (Q467*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 932291	NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)	PXDN (Q1362fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 932290	NM_005267.5(GJA8):c.280G>C (p.Gly94Arg)	GJA8 (G94R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 932289	NM_000325.6(PITX2):c.500dup (p.Asn168fs)	PITX2 (N115fs +2 more)	Duplication (frameshift variant)	Anterior segment dysgenesis	GPathogenic
Select item 932288	NM_001453.3(FOXC1):c.518G>A (p.Arg173His)	FOXC1 (R173H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis	GLikely pathogenic
Select item 932287	NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter)	ADAMTS17 (R176*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 932286	NM_005267.5(GJA8):c.281G>A (p.Gly94Glu)	GJA8 (G94E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 845455	NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)	LOC128772254, CYP1B1 (R444Q)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 570813	NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)	FOXC1	Microsatellite (inframe_insertion)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 438483	NM_022787.3(NMNAT1):c.[53A>G];[769G>A]			Cone-rod dystrophy	GPathogenic
Select item 438390	NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)	NMNAT1 (E91K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic/Likely pathogenic
Select item 424743	NM_001195.4(BFSP1):c.[1492delT];[812T>C]			Developmental cataract	GLikely pathogenic
Select item 392918	NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)	COL9A3 (G130S)	Single nucleotide variant (missense variant)	Intervertebral disc disorder +4 more	GConflicting classifications of pathogenicity
Select item 375311	NM_015692.5(CPAMD8):c.4408-1G>A	CPAMD8	Single nucleotide variant (splice acceptor variant)	Anterior segment dysgenesis 8 +1 more	GPathogenic
Select item 235922	NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	ITPR1, LOC126806590 (G2539R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 235568	NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)	COL4A1 (G212S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 217355	NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)	GJA8 (D51N)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 217354	NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs)	BCOR, LOC126863239 (V379fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 217353	NM_006891.4(CRYGD):c.448dup (p.Asp150fs)	CRYGD, LOC100507443 (D150fs)	Duplication (frameshift variant)	Developmental cataract	GPathogenic
Select item 217352	NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter)	NHS (C1208* +3 more)	Single nucleotide variant (nonsense)	Developmental cataract	GPathogenic
Select item 217351	NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg)	CRYBB3	Single nucleotide variant (stop lost)	Developmental cataract	GLikely pathogenic
Select item 217350	NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly)	CRYBB2 (W195G)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217349	NM_004431.5(EPHA2):c.1978T>G (p.Phe660Val)	EPHA2 (F660V +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 217348	NM_000496.2(CRYBB2):c.[343C>A;355G>A]	CRYBB2 (G119R +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217347	NM_001886.3(CRYBA4):c.40-1G>C	CRYBA4	Single nucleotide variant (splice acceptor variant)	Cataract 23 +1 more	GBenign/Likely benign
Select item 217346	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB (R107L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GConflicting classifications of pathogenicity
Select item 217345	NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs)	MIP (N200fs)	Insertion (frameshift variant)	Developmental cataract	GPathogenic
Select item 217344	NM_005360.5(MAF):c.880C>T (p.Arg294Trp)	MAF (R294W)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217343	NM_021954.4(GJA3):c.7G>C (p.Asp3His)	GJA3 (D3H)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GConflicting classifications of pathogenicity
Select item 217342	NM_012064.4(MIP):c.97C>T (p.Arg33Cys)	MIP (R33C)	Single nucleotide variant (missense variant)	Persistent hyperplastic primary vitreous +1 more	GPathogenic
Select item 217341	NM_005360.5(MAF):c.915C>T (p.Cys305=)	MAF	Single nucleotide variant (synonymous variant)	Developmental cataract	GLikely pathogenic
Select item 217340	NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)	PXDN (A1064T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 217339	NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)	GJA3 (P59L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 217338	NM_003380.5(VIM):c.15del (p.Val6fs)	VIM-AS1, VIM (V6fs)	Deletion (non-coding transcript variant +1 more)	Cataract 30 +1 more	GPathogenic/Likely pathogenic
Select item 217337	NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)	CRYGC, LOC100507443 (P110fs)	Indel (frameshift variant)	Developmental cataract	GPathogenic
Select item 217336	NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)	SLC16A12 (R204W)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 217335	NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)	GJA8 (W45S)	Single nucleotide variant (missense variant)	GJA8-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 217334	NM_021954.4(GJA3):c.260C>T (p.Thr87Met)	GJA3 (T87M)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 217333	NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn)	PAX6 (I66N +5 more)	Single nucleotide variant (missense variant +3 more)	Developmental cataract	GLikely pathogenic
Select item 217332	NM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp)	CRYAA (Y48D)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217331	NM_005267.5(GJA8):c.89dup (p.Ile31fs)	GJA8 (I31fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 217330	NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro)	CRYBB2 (S186P)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217329	NM_001887.4(CRYBB1):c.368G>A (p.Arg123His)	CRYBA4, CRYBB1 (R123H)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217328	NM_001368894.2(PAX6):c.1119del (p.Thr374fs)	PAX6 (T441fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 217327	NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs)	BCOR (E1412fs +2 more)	Deletion (frameshift variant)	Developmental cataract	GPathogenic
Select item 217326	NM_001291867.2(NHS):c.2770del (p.Glu924fs)	NHS (E903fs +3 more)	Deletion (frameshift variant)	Developmental cataract	GPathogenic
Select item 217325	NM_005360.5(MAF):c.819G>C (p.Glu273Asp)	MAF (E273D)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217324	NM_005267.5(GJA8):c.119C>T (p.Ala40Val)	GJA8 (A40V)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 217323	NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)	GJA8 (N220D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 133693	NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys)	BCOR (E1093K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 92725	NM_000276.4(OCRL):c.439+3A>G	OCRL	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 68476	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SLC16A12 (S158P)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GConflicting classifications of pathogenicity
Select item 68475	NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)	CRYGC, LOC100507443 (S166F)	Single nucleotide variant (missense variant)	Developmental cataract +1 more	GPathogenic
Select item 68474	NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)	GDF3 (P325L)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6	GUncertain significance
Select item 68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6 (R192Q)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria +4 more	GBenign/Likely benign
Select item 68472	NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)	CRYBA1 (G159S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 68471	NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)	BFSP1 (C259S +3 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma	GUncertain significance
Select item 68470	NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)	BFSP1	Deletion (frameshift variant)	Cataract 33	GBenign
Select item 68469	NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)	PAX6 (G51V +5 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Anterior segment dysgenesis +1 more	GPathogenic/Likely pathogenic
Select item 68468	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	CYP1B1 (R290fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 68467	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	CYP1B1 (E229K)	Single nucleotide variant (missense variant)	Congenital glaucoma +4 more	GBenign/Likely benign; other
Select item 68466	NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	CYP1B1 (T404fs)	Duplication (frameshift variant)	Glaucoma 3A +5 more	GPathogenic
Select item 68460	NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)	CRYAA (R21W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 41926	NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	CRYAB (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 16948	NM_004076.4(CRYBB3):c.[493G>C];[493G>C]	CRYBB3 (G165R)	Single nucleotide variant (missense variant)	Developmental cataract +1 more	GPathogenic
Select item 16940	NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)	CRYGD, LOC100507443 (P24T)	Single nucleotide variant (missense variant)	Aculeiform cataract +2 more	GPathogenic/Likely pathogenic
Select item 8726	NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)	GJA8 (R198Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 8448	NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)	FOXE3, LINC01389 (C240*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 8094	NM_000325.6(PITX2):c.344G>A (p.Arg115His)	PITX2 (R62H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 8089	NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)	PITX2 (R84W +2 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +5 more	GConflicting classifications of pathogenicity
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GConflicting classifications of pathogenicity
Select item 7737	NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Congenital glaucoma +5 more	GPathogenic/Likely pathogenic

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Items: 78