phacelia menzies - ClinVar - NCBI

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The following term was not found in ClinVar: phacelia.
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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253703	NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)	GJA8 (W4R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253704	NM_005267.5(GJA8):c.12G>C (p.Trp4Cys)	GJA8 (W4C)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 772629	NM_005267.5(GJA8):c.19C>A (p.Leu7Met)	GJA8 (L7M)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 3253705	NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del)	GJA8	Deletion (inframe deletion)	Cataract 1 multiple types	GUncertain significance
Select item 2733979	NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)	GJA8 (L7P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 3253706	NM_005267.5(GJA8):c.53C>T (p.Ser18Phe)	GJA8 (S18F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 292462	NM_005267.5(GJA8):c.58G>A (p.Val20Ile)	GJA8 (V20I)	Single nucleotide variant (missense variant)	Zonular Pulverulent Cataract +1 more	GUncertain significance
Select item 3253707	NM_005267.5(GJA8):c.64G>C (p.Gly22Arg)	GJA8 (G22R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 1065589	NM_005267.5(GJA8):c.64G>A (p.Gly22Ser)	GJA8 (G22S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GLikely pathogenic
Select item 8724	NM_005267.5(GJA8):c.68G>C (p.Arg23Thr)	GJA8 (R23T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 252946	NM_005267.5(GJA8):c.73T>C (p.Trp25Arg)	GJA8 (W25R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 217331	NM_005267.5(GJA8):c.89dup (p.Ile31fs)	GJA8 (I31fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253708	NM_005267.5(GJA8):c.92T>C (p.Ile31Thr)	GJA8 (I31T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253709	NM_005267.5(GJA8):c.94T>A (p.Phe32Ile)	GJA8 (F32I)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253710	NM_005267.5(GJA8):c.116C>G (p.Thr39Arg)	GJA8 (T39R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
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 3253711	NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)	GJA8 (E42K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1704073	NM_005267.5(GJA8):c.130G>A (p.Val44Met)	GJA8 (V44M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3253712	NM_005267.5(GJA8):c.131T>C (p.Val44Ala)	GJA8 (V44A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 8725	NM_005267.5(GJA8):c.131T>A (p.Val44Glu)	GJA8 (V44E)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 2915341	NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)	GJA8 (W45R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 845873	NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)	GJA8 (W45L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic/Likely pathogenic
Select item 217335	NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)	GJA8 (W45S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic/Likely pathogenic
Select item 521584	NM_005267.5(GJA8):c.136G>A (p.Gly46Arg)	GJA8 (G46R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 3253714	NM_005267.5(GJA8):c.137G>T (p.Gly46Val)	GJA8 (G46V)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 280147	NM_005267.5(GJA8):c.139G>C (p.Asp47His)	GJA8 (D47H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8727	NM_005267.5(GJA8):c.139G>A (p.Asp47Asn)	GJA8 (D47N)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic
Select item 8722	NM_005267.5(GJA8):c.142G>A (p.Glu48Lys)	GJA8 (E48K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
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 3253715	NM_005267.5(GJA8):c.154T>C (p.Phe52Leu)	GJA8 (F52L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1030900	NM_005267.5(GJA8):c.163A>G (p.Asn55Asp)	GJA8 (N55D)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253716	NM_005267.5(GJA8):c.166A>C (p.Thr56Pro)	GJA8 (T56P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253718	NM_005267.5(GJA8):c.175C>A (p.Pro59Thr)	GJA8 (P59T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253717	NM_005267.5(GJA8):c.175C>G (p.Pro59Ala)	GJA8 (P59A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253720	NM_005267.5(GJA8):c.178G>C (p.Gly60Arg)	GJA8 (G60R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 2574784	NM_005267.5(GJA8):c.178G>A (p.Gly60Ser)	GJA8 (G60S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 3253721	NM_005267.5(GJA8):c.191T>G (p.Val64Gly)	GJA8 (V64G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1403025	NM_005267.5(GJA8):c.200A>G (p.Asp67Gly)	GJA8 (D67G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 3253722	NM_005267.5(GJA8):c.205G>A (p.Ala69Thr)	GJA8 (A69T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253723	NM_005267.5(GJA8):c.208T>C (p.Phe70Leu)	GJA8 (F70L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253724	NM_005267.5(GJA8):c.217T>C (p.Ser73Pro)	GJA8 (S73P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253725	NM_005267.5(GJA8):c.218C>T (p.Ser73Phe)	GJA8 (S73F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253726	NM_005267.5(GJA8):c.226C>G (p.Arg76Gly)	GJA8 (R76G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1454428	NM_005267.5(GJA8):c.226C>T (p.Arg76Cys)	GJA8 (R76C)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 1328353	NM_005267.5(GJA8):c.227G>A (p.Arg76His)	GJA8 (R76H)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253656	NM_005267.5(GJA8):c.235G>C (p.Val79Leu)	GJA8 (V79L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253657	NM_005267.5(GJA8):c.262C>A (p.Pro88Thr)	GJA8 (P88T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 8721	NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)	GJA8 (P88S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic/Likely pathogenic
Select item 1684591	NM_005267.5(GJA8):c.263C>A (p.Pro88Gln)	GJA8 (P88Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 1684590	NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)	GJA8 (P88L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic/Likely pathogenic
Select item 3253658	NM_005267.5(GJA8):c.280G>A (p.Gly94Arg)	GJA8 (G94R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
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 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 2630392	NM_005267.5(GJA8):c.290T>G (p.Val97Gly)	GJA8 (V97G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 3253659	NM_005267.5(GJA8):c.293A>C (p.His98Pro)	GJA8 (H98P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3236398	NM_005267.5(GJA8):c.293A>G (p.His98Arg)	GJA8 (H98R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253660	NM_005267.5(GJA8):c.302G>T (p.Arg101Leu)	GJA8 (R101L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253661	NM_005267.5(GJA8):c.367G>A (p.Gly123Ser)	GJA8 (G123S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1065590	NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del)	GJA8 (K131del)	Microsatellite (inframe_deletion)	Cataract 1 multiple types	GUncertain significance
Select item 3253662	NM_005267.5(GJA8):c.430_444del (p.Glu144_Leu148del)	GJA8	Deletion (inframe deletion)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253663	NM_005267.5(GJA8):c.433G>T (p.Gly145Trp)	GJA8 (G145W)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3064206	NM_005267.5(GJA8):c.460C>G (p.His154Asp)	GJA8 (H154D)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 252947	NM_005267.5(GJA8):c.484G>A (p.Glu162Lys)	GJA8 (E162K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253664	NM_005267.5(GJA8):c.565C>G (p.Pro189Ala)	GJA8 (P189A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 1065588	NM_005267.5(GJA8):c.565C>T (p.Pro189Ser)	GJA8 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 68465	NM_005267.5(GJA8):c.566C>T (p.Pro189Leu)	GJA8 (P189L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253666	NM_005267.5(GJA8):c.586G>A (p.Val196Met)	GJA8 (V196M)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253667	NM_005267.5(GJA8):c.590C>T (p.Ser197Phe)	GJA8 (S197F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 2581012	NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)	GJA8 (R198W)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 8726	NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)	GJA8 (R198Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1007568	NM_005267.5(GJA8):c.595C>T (p.Pro199Ser)	GJA8 (P199S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 2690901	NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)	GJA8 (E201K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 3253668	NM_005267.5(GJA8):c.607dup (p.Thr203fs)	GJA8 (T203fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 217323	NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)	GJA8 (N220D)	Single nucleotide variant (missense variant)	Zonular Pulverulent Cataract +3 more	GLikely benign
Select item 8723	NM_005267.5(GJA8):c.741T>G (p.Ile247Met)	GJA8 (I247M)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GBenign/Likely benign
Select item 3253670	NM_005267.5(GJA8):c.766dup (p.Ala256fs)	GJA8 (A256fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253671	NM_005267.5(GJA8):c.773C>T (p.Ser258Phe)	GJA8 (S258F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253672	NM_005267.5(GJA8):c.776C>A (p.Ser259Tyr)	GJA8 (S259Y)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 427758	NM_005267.5(GJA8):c.827C>T (p.Ser276Phe)	GJA8 (S276F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 872438	NM_005267.5(GJA8):c.829C>T (p.His277Tyr)	GJA8 (H277Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3253673	NM_005267.5(GJA8):c.839C>G (p.Pro280Arg)	GJA8 (P280R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253674	NM_005267.5(GJA8):c.855del (p.Met286fs)	GJA8 (M286fs)	Deletion (frameshift variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253675	NM_005267.5(GJA8):c.875T>A (p.Leu292Gln)	GJA8 (L292Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253676	NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)	GJA8 (G333R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253677	NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)	GJA8 (E340Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 292473	NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln)	GJA8 (E368Q)	Single nucleotide variant (missense variant)	Zonular Pulverulent Cataract +1 more	GBenign/Likely benign
Select item 3253678	NM_005267.5(GJA8):c.1125del (p.Gly376fs)	GJA8 (G376fs)	Deletion (frameshift variant)	Cataract 1 multiple types	GUncertain significance
Select item 3064099	NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)	GJA8 (R425*)	Single nucleotide variant (nonsense)	Cataract 1 multiple types	GUncertain significance
Select item 1065600	NM_018060.4(IARS2):c.1166G>C (p.Gly389Ala)	IARS2 (G389A)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 988890	NM_019891.4(ERO1B):c.662C>T (p.Ala221Val)	ERO1B (A221V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 988889	NC_000001.11:g.239953380_239953381insGTGTGTGAGGCAGAGCCGGTGTGTGAGGAGGCCTGGGGGTGGGTTCATGTGAGCCCGTGGGGAGGGGACAGGGCTGGACTGCACAGAGCAGAGCTGCCAGAAGCTGAGGAGCGGACGCAGCAATGAGAAACTCAGCCCAATCATGTGGCCGACTGCAGTCTGGAAGACTTCCTGGGTGTGGAGTTTCTCTGAGTTTCTCAGAAAGGCAGAGGGAAGATTTTTGTCAGTAGAAGGCACATGGAAAGTCAGTCATGTTAGTGATCTTTCCTCCTCTGGCAGCTCCAGAGCCAGCTCCAGTTCAAGCTCAAAAGCCACCTTCAGAGTGTGTGTCAGGGCTAGGTCCACCACCAGCTCCAGCTGCAGCCTTAACCACCAG		Insertion	Developmental cataract	GLikely benign
Select item 1065595	NM_003571.4(BFSP2):c.265C>T (p.Arg89Trp)	BFSP2 (R89W)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 988891	NM_207015.3(NAALADL2):c.1534-11_1534-10delinsA	NAALADL2	Indel (intron variant)	Developmental cataract	GLikely benign
Select item 988888	NC_000003.12:g.176518923_176519268dup		Duplication	Developmental cataract	GLikely benign
Select item 1065598	NM_006005.3(WFS1):c.1109C>T (p.Ala370Val)	WFS1 (A370V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 836202	NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	TERT (R888W +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 1065592	NM_181336.4(LEMD2):c.1A>G (p.Met1Val)	LEMD2, LOC129996186 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental cataract	GUncertain significance
Select item 1065597	NM_000786.4(CYP51A1):c.280G>A (p.Ala94Thr)	CYP51A1 (A94T)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 162793	NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)	BRAF	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 228678	NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	EYA1 (S487L +4 more)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 1 +5 more	GConflicting classifications of pathogenicity

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