"Wessex Regional Genetics Laboratory, Salisbury District Hospital"[sub - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity
Select item 800482	NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 800480	NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs)	ELP4, PAX6 (W365fs +8 more)	Indel (nonsense +3 more)	Aniridia 1	GPathogenic
Select item 800481	NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)	ELP4, PAX6 (G368fs +13 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800479	NM_001368894.2(PAX6):c.1282dup (p.Met428fs)	ELP4, PAX6 (C364fs +13 more)	Duplication (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800478	NM_001368894.2(PAX6):c.1226-1G>C	ELP4, PAX6	Single nucleotide variant (splice acceptor variant +1 more)	Aniridia 1	GPathogenic
Select item 800477	NM_001368894.2(PAX6):c.1225+4dup	PAX6	Duplication (intron variant)	Aniridia 1	GUncertain significance
Select item 3465	NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg)	PAX6 (G434R +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1	GPathogenic
Select item 800476	NM_001368894.2(PAX6):c.1211del (p.Gly404fs)	PAX6 (G471fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800475	NM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs)	PAX6 (G412fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 546663	NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)	PAX6 (S363* +8 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic/Likely 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 800473	NM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs)	PAX6 (Y218fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800474	NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter)	PAX6 (Y435* +8 more)	Single nucleotide variant (nonsense +2 more)	Aniridia 1	GPathogenic
Select item 3462	NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)	PAX6 (S353* +8 more)	Single nucleotide variant (nonsense +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 800472	NM_001368894.2(PAX6):c.1086dup (p.Ser363fs)	PAX6 (S148fs +8 more)	Duplication (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800471	NM_001368894.2(PAX6):c.1079del (p.Pro360fs)	PAX6 (P293fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800470	NM_001368894.2(PAX6):c.1075-1G>A	PAX6	Single nucleotide variant (splice acceptor variant +1 more)	Aniridia 1	GPathogenic
Select item 289617	NM_001368894.2(PAX6):c.1075-3C>G	PAX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 800464	NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer)	PAX6	Duplication (nonsense +2 more)	Aniridia 1	GPathogenic
Select item 800465	NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs)	PAX6 (N339fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800469	NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)	PAX6	Deletion (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 372444	NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)	PAX6 (R317* +9 more)	Single nucleotide variant (nonsense +1 more)	Irido-corneo-trabecular dysgenesis +2 more	GPathogenic
Select item 800468	NM_001368894.2(PAX6):c.967_968del (p.Phe323fs)	PAX6 (F173fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800467	NM_001368894.2(PAX6):c.959-1G>C	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800466	NM_001368894.2(PAX6):c.959-1G>A	PAX6	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 800463	NM_001368894.2(PAX6):c.958+1G>T	PAX6	Single nucleotide variant (splice donor variant)	Aniridia 1	GPathogenic
Select item 800462	NM_001368894.2(PAX6):c.958+1G>A	PAX6	Single nucleotide variant (splice donor variant)	Aniridia 1 +1 more	GPathogenic
Select item 372442	NM_001368894.2(PAX6):c.958+1G>C	PAX6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 800461	NM_001368894.2(PAX6):c.951del (p.Thr318fs)	PAX6 (T168fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800460	NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)	PAX6 (Q292* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 800459	NM_001368894.2(PAX6):c.854_855del (p.Leu285fs)	PAX6 (L204fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800458	NM_001368894.2(PAX6):c.846del (p.Glu283fs)	PAX6 (E133fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800457	NM_001368894.2(PAX6):c.843del (p.Glu282fs)	PAX6 (E132fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 431004	NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)	PAX6 (W265* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 800456	NM_001368894.2(PAX6):c.834del (p.Lys278fs)	PAX6 (K345fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	PAX6-related disorders +9 more	GPathogenic
Select item 665256	NM_001368894.2(PAX6):c.817dup (p.Ser273fs)	PAX6 (S284fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 800455	NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)	PAX6 (W282* +9 more)	Single nucleotide variant (nonsense +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 800454	NM_001368894.2(PAX6):c.808-1G>A	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800453	NM_001368894.2(PAX6):c.808-1G>C	PAX6	Single nucleotide variant (splice acceptor variant)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 800452	NM_001368894.2(PAX6):c.807G>C (p.Gln269His)	PAX6 (Q188H +9 more)	Single nucleotide variant (missense variant)	Aniridia 1	GPathogenic
Select item 3467	NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)	PAX6 (R240* +9 more)	Single nucleotide variant (nonsense)	Irido-corneo-trabecular dysgenesis +2 more	GPathogenic
Select item 800451	NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)	PAX6 (F102fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 800450	NM_001368894.2(PAX6):c.725-5T>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1	GLikely pathogenic
Select item 800449	NM_001368894.2(PAX6):c.725-9C>G	PAX6	Single nucleotide variant (intron variant)	Aniridia 1	GLikely pathogenic
Select item 800448	NM_001368894.2(PAX6):c.723A>G (p.Lys241=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1	GLikely pathogenic
Select item 430999	NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)	PAX6 (Q221* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 800447	NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)	PAX6 (R147G +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1	GPathogenic
Select item 800446	NM_001368894.2(PAX6):c.677_680del (p.Arg226fs)	PAX6 (R145fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 3466	NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)	PAX6 (R203* +9 more)	Single nucleotide variant (nonsense +1 more)	Irido-corneo-trabecular dysgenesis +2 more	GPathogenic
Select item 800445	NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)	PAX6	Deletion (nonsense +2 more)	Aniridia 1	GPathogenic
Select item 800444	NM_001368894.2(PAX6):c.569del (p.Gly190fs)	PAX6 (G109fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800441	NM_001368894.2(PAX6):c.566-14_567del	PAX6	Deletion (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800443	NM_001368894.2(PAX6):c.566-1G>A	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800442	NM_001368894.2(PAX6):c.566-2A>G	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 430998	NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)	PAX6 (Q171* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 800440	NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)	PAX6 (S192* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 460463	NM_001368894.2(PAX6):c.537del (p.Thr180fs)	PAX6 (T30fs +8 more)	Deletion (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 800439	NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)	PAX6 (Y163* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 800438	NM_001368894.2(PAX6):c.517del (p.Arg173fs)	PAX6 (R106fs +8 more)	Deletion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 800437	NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)	PAX6 (T158fs +8 more)	Insertion (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 521078	NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)	PAX6 (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 800436	NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu)	PAX6 (R128L +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 800435	NM_001368894.2(PAX6):c.425G>A (p.Arg142His)	PAX6 (R128H +7 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 3470	NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	PAX6 (R128C +7 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 800434	NM_001368894.2(PAX6):c.417_418del (p.Arg139fs)	PAX6 (R140fs +7 more)	Microsatellite (non-coding transcript variant +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 800433	NM_001368894.2(PAX6):c.415dup (p.Arg139fs)	PAX6 (R140fs +7 more)	Duplication (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800432	NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter)	PAX6 (S137* +7 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Aniridia 1	GPathogenic
Select item 800431	NM_001368894.2(PAX6):c.400-1G>A	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800430	NM_001368894.2(PAX6):c.400-2A>G	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GPathogenic
Select item 800429	NM_001368894.2(PAX6):c.399+5G>A	PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Irido-corneo-trabecular dysgenesis	GUncertain significance
Select item 800428	NM_001368894.2(PAX6):c.399_399+5del	PAX6	Deletion (5 prime UTR variant +2 more)	Aniridia 1	GPathogenic
Select item 92758	NM_001368894.2(PAX6):c.399+1G>A	PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	Aniridia 1 +3 more	GPathogenic
Select item 800427	NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)	PAX6	Deletion (5 prime UTR variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 973596	NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter)	PAX6 (P132* +5 more)	Duplication (nonsense +3 more)	Aniridia 1	GPathogenic
Select item 800425	NM_001368894.2(PAX6):c.375C>A (p.Val125=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 800424	NM_001368894.2(PAX6):c.373dup (p.Val125fs)	PAX6 (V111fs +5 more)	Duplication (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 800422	NM_001368894.2(PAX6):c.372_373dup (p.Val125fs)	PAX6 (V111fs +5 more)	Duplication (frameshift variant +3 more)	Aniridia 1	GPathogenic
Select item 800423	NM_001368894.2(PAX6):c.373del (p.Val125fs)	PAX6 (V136fs +5 more)	Deletion (frameshift variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 800420	NM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs)	PAX6 (E148fs +5 more)	Indel (frameshift variant +3 more)	Aniridia 1	GPathogenic
Select item 800421	NM_001368894.2(PAX6):c.367del (p.Glu123fs)	PAX6 (E109fs +5 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GPathogenic
Select item 492993	NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)	PAX6 (E109* +5 more)	Single nucleotide variant (nonsense +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 3464	NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)	PAX6 (R103* +5 more)	Single nucleotide variant (nonsense +3 more)	Irido-corneo-trabecular dysgenesis +2 more	GPathogenic
Select item 800419	NM_001368894.2(PAX6):c.328_337del (p.Ser110fs)	PAX6 (S111fs +5 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GPathogenic
Select item 800418	NM_001368894.2(PAX6):c.323del (p.Cys108fs)	PAX6 (C175fs +5 more)	Deletion (5 prime UTR variant +3 more)	Aniridia 1	GPathogenic
Select item 800417	NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro)	PAX6 (R106P +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 800416	NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer)	PAX6	Deletion (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 418399	NM_001368894.2(PAX6):c.297C>T (p.Ser99=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely pathogenic
Select item 800415	NM_001368894.2(PAX6):c.288dup (p.Val97fs)	PAX6 (V164fs +5 more)	Duplication (frameshift variant +3 more)	Aniridia 1	GPathogenic
Select item 800414	NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)	PAX6 (G111C +5 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 800413	NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	PAX6 (G153R +5 more)	Single nucleotide variant (missense variant +3 more)	Foveal hypoplasia 1	GLikely pathogenic
Select item 800412	NM_001368894.2(PAX6):c.246dup (p.Arg83fs)	PAX6 (R150fs +5 more)	Duplication (5 prime UTR variant +3 more)	Aniridia 1	GPathogenic
Select item 3472	NM_001368894.2(PAX6):c.233G>T (p.Gly78Val)	PAX6 (G64V +5 more)	Single nucleotide variant (missense variant +3 more)	Foveal hypoplasia 1 with cataract +1 more	GPathogenic
Select item 800411	NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter)	PAX6 (Y100* +5 more)	Single nucleotide variant (nonsense +3 more)	Aniridia 1	GPathogenic
Select item 800410	NM_001368894.2(PAX6):c.216C>T (p.Gly72=)	PAX6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 800409	NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro)	PAX6 (L71P +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 800408	NM_001368894.2(PAX6):c.208del (p.Ile70fs)	PAX6 (I56fs +5 more)	Deletion (5 prime UTR variant +3 more)	Aniridia 1	GPathogenic
Select item 800407	NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)	PAX6 (K55* +5 more)	Single nucleotide variant (nonsense +3 more)	Aniridia 1	GPathogenic

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