ClinVar for MedGen (Select 3619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571620	NM_001174096.2(ZEB1):c.1586_1595del (p.Asp529fs)	ZEB1 (D310fs +11 more)	Deletion (frameshift variant)	Corneal dystrophy	GPathogenic
Select item 1691711	NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)	ZEB1 (I146fs +11 more)	Duplication (frameshift variant)	Corneal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 907848	NM_000358.3(TGFBI):c.*537T>G	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GUncertain significance
Select item 907797	NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 907796	NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser)	TGFBI (P501S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 907741	NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu)	TGFBI (I247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 907740	NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)	TGFBI (E131D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 906859	NM_000358.3(TGFBI):c.*534G>T	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GUncertain significance
Select item 906858	NM_000358.3(TGFBI):c.*462C>G	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GUncertain significance
Select item 906857	NM_000358.3(TGFBI):c.*395C>A	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GLikely benign
Select item 906856	NM_000358.3(TGFBI):c.*355A>G	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GUncertain significance
Select item 906855	NM_000358.3(TGFBI):c.*119G>A	TGFBI	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy	GUncertain significance
Select item 906803	NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys)	TGFBI (R469C)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 906802	NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala)	TGFBI (T431A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 906736	NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser)	TGFBI (R129S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 906735	NM_000358.3(TGFBI):c.334G>A (p.Val112Ile)	TGFBI (V112I)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905260	NM_000358.3(TGFBI):c.2040G>C (p.Arg680Ser)	TGFBI (R680S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905259	NM_000358.3(TGFBI):c.1992C>T (p.Ser664=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GLikely benign
Select item 905258	NM_000358.3(TGFBI):c.1949C>T (p.Ala650Val)	TGFBI (A650V)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905211	NM_000358.3(TGFBI):c.1194C>T (p.Ala398=)	TGFBI, LOC126807519	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 905210	NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp)	LOC126807519, TGFBI (A398D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905209	NM_000358.3(TGFBI):c.1127-11C>T	LOC126807519, TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 904478	NM_000358.3(TGFBI):c.1741G>A (p.Gly581Arg)	TGFBI (G581R)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 904477	NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp)	TGFBI (L559W)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 904476	NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr)	TGFBI (A549T)	Single nucleotide variant (missense variant)	Corneal dystrophy	GLikely benign
Select item 904475	NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln)	TGFBI (R548Q)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 904413	NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala)	TGFBI (T334A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 904412	NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)	TGFBI (D299N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903522	NM_207352.4(CYP4V2):c.*2751A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903521	NM_207352.4(CYP4V2):c.*2708A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903471	NM_207352.4(CYP4V2):c.*2078T>C	KLKB1, CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903470	NM_207352.4(CYP4V2):c.*2010G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903417	NM_207352.4(CYP4V2):c.*1589C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903415	NM_207352.4(CYP4V2):c.*1496G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903414	NM_207352.4(CYP4V2):c.*1474G>T	KLKB1, CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 903357	NM_207352.4(CYP4V2):c.*999C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903356	NM_207352.4(CYP4V2):c.*923G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903213	NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)	CYP4V2	Single nucleotide variant (synonymous variant)	Bietti crystalline corneoretinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 902619	NM_207352.4(CYP4V2):c.*1986G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902569	NM_207352.4(CYP4V2):c.*1463G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902568	NM_207352.4(CYP4V2):c.*1238C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902491	NM_207352.4(CYP4V2):c.*836C>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902490	NM_207352.4(CYP4V2):c.*810C>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 902424	NM_207352.4(CYP4V2):c.*282A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902423	NM_207352.4(CYP4V2):c.*232G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902422	NM_207352.4(CYP4V2):c.*204T>C	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902421	NM_207352.4(CYP4V2):c.*198A>T	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902351	NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)	CYP4V2 (V395A)	Single nucleotide variant (missense variant)	Corneal dystrophy +2 more	GUncertain significance
Select item 902350	NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)	CYP4V2 (D374Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 902285	NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)	CYP4V2 (L258I)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 902209	NM_207352.4(CYP4V2):c.-22C>G	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 901589	NM_207352.4(CYP4V2):c.*2590T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 901588	NM_207352.4(CYP4V2):c.*2373G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 901036	NM_207352.4(CYP4V2):c.*2281A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 901035	NM_207352.4(CYP4V2):c.*2266A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 901034	NM_207352.4(CYP4V2):c.*2189A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 900964	NM_207352.4(CYP4V2):c.*1756T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 900963	NM_207352.4(CYP4V2):c.*1722T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 900740	NM_207352.4(CYP4V2):c.*172T>C	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 900739	NM_207352.4(CYP4V2):c.*160A>G	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 900664	NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)	CYP4V2 (R368H)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +3 more	GUncertain significance
Select item 900663	NM_207352.4(CYP4V2):c.1091-15A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900596	NM_207352.4(CYP4V2):c.674+14T>C	CYP4V2	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 900541	NM_207352.4(CYP4V2):c.-133G>T	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899863	NM_207352.4(CYP4V2):c.*2166C>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 899862	NM_207352.4(CYP4V2):c.*2163G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899861	NM_207352.4(CYP4V2):c.*2139G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899860	NM_207352.4(CYP4V2):c.*2116A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899803	NM_207352.4(CYP4V2):c.*1721A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899802	NM_207352.4(CYP4V2):c.*1705C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899801	NM_207352.4(CYP4V2):c.*1690C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899741	NM_207352.4(CYP4V2):c.*1052A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899679	NM_207352.4(CYP4V2):c.*636A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899678	NM_207352.4(CYP4V2):c.*449C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899608	NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899530	NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)	CYP4V2	Single nucleotide variant (synonymous variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899529	NM_207352.4(CYP4V2):c.987+7T>C	CYP4V2	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899528	NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)	CYP4V2 (D281N)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 899286	NM_001174089.2(SLC4A11):c.453G>C (p.Glu151Asp)	SLC4A11 (E167D +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 899285	NM_001174089.2(SLC4A11):c.470A>G (p.Asp157Gly)	SLC4A11 (D157G +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 899284	NM_001174089.2(SLC4A11):c.606-15C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899283	NM_001174089.2(SLC4A11):c.611C>T (p.Thr204Ile)	SLC4A11 (T204I +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 899234	NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	SLC4A11 (T561M +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea +3 more	GUncertain significance
Select item 899233	NM_001174089.2(SLC4A11):c.1742+8G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899174	NM_001174089.2(SLC4A11):c.2558+12T>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899173	NM_001174089.2(SLC4A11):c.*27C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898234	NM_001174089.2(SLC4A11):c.44-24G>C	SLC4A11 (G23A)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898180	NM_001174089.2(SLC4A11):c.883G>A (p.Gly295Ser)	SLC4A11 (G311S +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898123	NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	SLC4A11 (A565T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 898122	NM_001174089.2(SLC4A11):c.1857G>A (p.Lys619=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898121	NM_001174089.2(SLC4A11):c.1929C>T (p.Ser643=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 898120	NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 898051	NM_001174089.2(SLC4A11):c.*109C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898050	NM_001174089.2(SLC4A11):c.*323C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898049	NM_001174089.2(SLC4A11):c.*351C>T	ITPA, SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 896609	NM_001174089.2(SLC4A11):c.209A>G (p.Asn70Ser)	SLC4A11 (N70S +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 896608	NM_001174089.2(SLC4A11):c.251C>T (p.Ala84Val)	SLC4A11 (A127V +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 896607	NM_001174089.2(SLC4A11):c.259G>A (p.Gly87Ser)	SLC4A11 (G103S +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 896551	NM_001174089.2(SLC4A11):c.1169-13C>T	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 896498	NM_001174089.2(SLC4A11):c.2011G>A (p.Glu671Lys)	SLC4A11 (E671K +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance

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