ClinVar for MedGen (Select 87382) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300210	NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)	ZEB1 (Y116* +10 more)	Duplication (nonsense +1 more)	Polymorphous corneal dystrophy	GLikely pathogenic
Select item 898599	NM_014588.6(VSX1):c.378G>A (p.Pro126=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898598	NM_014588.6(VSX1):c.379C>T (p.Pro127Ser)	VSX1 (P127S)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GUncertain significance
Select item 898597	NM_014588.6(VSX1):c.387C>G (p.Leu129=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898596	NM_014588.6(VSX1):c.389G>A (p.Gly130Asp)	VSX1 (G130D)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GUncertain significance
Select item 898526	NM_014588.6(VSX1):c.*104C>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 898525	NM_014588.6(VSX1):c.*112A>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898524	NM_014588.6(VSX1):c.*169G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898523	NM_014588.6(VSX1):c.*396T>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898522	NM_014588.6(VSX1):c.*416T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 897431	NM_014588.6(VSX1):c.485G>A (p.Arg162Lys)	VSX1 (R162K)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 897367	NM_014588.6(VSX1):c.*610G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896937	NM_014588.6(VSX1):c.557C>T (p.Ala186Val)	VSX1 (A186V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896936	NM_014588.6(VSX1):c.578C>T (p.Ala193Val)	VSX1 (A193V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896935	NM_014588.6(VSX1):c.612C>T (p.Pro204=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 896934	NM_014588.6(VSX1):c.628-13T>C	VSX1	Single nucleotide variant (5 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 896933	NM_014588.6(VSX1):c.717G>A (p.Gly239=)	VSX1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 895608	NM_014588.6(VSX1):c.81C>T (p.Arg27=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 895607	NM_014588.6(VSX1):c.83C>T (p.Pro28Leu)	VSX1 (P28L)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895534	NM_014588.6(VSX1):c.768C>T (p.Ala256=)	VSX1	Single nucleotide variant (synonymous variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895533	NM_014588.6(VSX1):c.871C>T (p.Leu291Phe)	VSX1 (L60F +1 more)	Single nucleotide variant (missense variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895532	NM_014588.6(VSX1):c.*64G>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 778879	NM_014588.6(VSX1):c.628-4C>T	VSX1	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 488734	NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)	VSX1 (C55*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 374184	NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)	ZEB1 (R325* +11 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 369353	NM_014588.5(VSX1):c.-289C>G	VSX1	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 337979	NM_014588.5(VSX1):c.-271G>T	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337978	NM_014588.5(VSX1):c.-274_-270GGGGT[2]	VSX1	Microsatellite	Polymorphous corneal dystrophy	GBenign
Select item 337977	NM_014588.5(VSX1):c.-274_-270GGGGT[3]	VSX1	Microsatellite	not provided +1 more	GUncertain significance
Select item 337976	NM_014588.5(VSX1):c.-244G>T	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337975	NM_014588.5(VSX1):c.-239G>C	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337974	NM_014588.5(VSX1):c.-197G>A	VSX1	Single nucleotide variant	not provided +1 more	GBenign
Select item 337973	NM_014588.5(VSX1):c.-175C>G	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337972	NM_014588.5(VSX1):c.-61C>G	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337971	NM_014588.6(VSX1):c.60C>T (p.Gly20=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 337970	NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)	VSX1 (P58L)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 337969	NM_014588.6(VSX1):c.174G>T (p.Pro58=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337968	NM_014588.6(VSX1):c.281C>A (p.Ala94Glu)	VSX1 (A94E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337967	NM_014588.6(VSX1):c.315C>A (p.Asp105Glu)	VSX1 (D105E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 337966	NM_014588.6(VSX1):c.339C>T (p.Gly113=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337965	NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)	VSX1 (R131S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 337964	NM_014588.6(VSX1):c.452A>G (p.Asn151Ser)	VSX1 (N151S)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 337963	NM_014588.6(VSX1):c.474C>G (p.Thr158=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
Select item 337962	NM_014588.6(VSX1):c.479G>T (p.Gly160Val)	VSX1 (G160V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
Select item 337961	NM_014588.6(VSX1):c.497G>A (p.Arg166Gln)	VSX1 (R166Q)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GBenign
Select item 337960	NM_014588.6(VSX1):c.528G>A (p.Leu176=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 337959	NM_014588.6(VSX1):c.731A>G (p.His244Arg)	VSX1 (H244R +1 more)	Single nucleotide variant (missense variant +2 more)	Polymorphous corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 337958	NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)	VSX1 (P247R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 337957	NM_014588.6(VSX1):c.809-6dup	VSX1	Duplication (intron variant)	Polymorphous corneal dystrophy	GBenign
Select item 337956	NM_014588.6(VSX1):c.*3C>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GLikely benign
Select item 337955	NM_014588.6(VSX1):c.*88C>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337954	NM_014588.6(VSX1):c.*89T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337953	NM_014588.6(VSX1):c.*159G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337952	NM_014588.6(VSX1):c.*199G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 337951	NM_014588.6(VSX1):c.*200G>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337950	NM_014588.6(VSX1):c.*223G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337949	NM_014588.6(VSX1):c.*453del	VSX1	Deletion (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 337948	NM_014588.6(VSX1):c.*496A>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337947	NM_014588.6(VSX1):c.*506T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337946	NM_014588.6(VSX1):c.*744C>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 337945	NM_014588.6(VSX1):c.*745G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 337944	NM_014588.6(VSX1):c.*749C>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337943	NM_014588.5(VSX1):c.*820T>C	VSX1	Single nucleotide variant (non-coding transcript variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 260423	NM_014588.6(VSX1):c.18G>T (p.Ser6=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 100940	NM_014588.6(VSX1):c.546A>G (p.Ala182=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +2 more	GBenign
Select item 100939	NM_014588.6(VSX1):c.432C>G (p.Asp144Glu)	VSX1 (D144E)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
Select item 5251	NM_014588.6(VSX1):c.50T>C (p.Leu17Pro)	VSX1 (L17P)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GLikely benign
Select item 5249	NM_014588.6(VSX1):c.475T>A (p.Leu159Met)	VSX1 (L159M)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GLikely benign
Select item 5248	NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	VSX1 (G160D)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 5247	NM_014588.6(VSX1):c.496C>T (p.Arg166Trp)	VSX1 (R166W)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance

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Links from MedGen

Items: 70