"GeneDx"[submitter] AND "PAX6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 58886	GRCh38/hg38 11p13(chr11:31528093-31807593)x1	ELP4, LOC105980003 +8 more	Copy number loss	See cases	GPathogenic
Select item 151275	GRCh38/hg38 11p13(chr11:31600532-32122801)x3	ELP4, LINC03031 +23 more	Copy number gain	See cases	GPathogenic
Select item 58887	GRCh38/hg38 11p13(chr11:31765618-31792086)x1	ELP4, LOC126861176 +1 more	Copy number loss	See cases	GPathogenic
Select item 304301	NM_000280.4(PAX6):c.*3958G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304305	NM_000280.4(PAX6):c.3736_3737delCA	ELP4, PAX6	Deletion (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304309	NM_000280.4(PAX6):c.3246_3247insTTTT	ELP4, PAX6	Insertion (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304310	NM_000280.4(PAX6):c.*3202G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304313	NM_000280.4(PAX6):c.*2985G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +7 more	GBenign/Likely benign
Select item 304316	NM_000280.4(PAX6):c.*2901T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +7 more	GBenign/Likely benign
Select item 304317	NM_000280.4(PAX6):c.2893_2896dupATTT	ELP4, PAX6	Duplication (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304321	NM_000280.4(PAX6):c.*2707C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign
Select item 304327	NM_000280.4(PAX6):c.*2416G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign/Likely benign
Select item 304328	NC_000011.10:g.31787522C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Congenital aniridia +8 more	GBenign
Select item 304332	NM_000280.4(PAX6):c.*2305G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign
Select item 304334	NM_000280.4(PAX6):c.*2160G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Congenital aniridia +7 more	GBenign
Select item 304341	NM_000280.4(PAX6):c.*1184A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 877523	NM_001368894.2(PAX6):c.*842G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 1262320	NM_001368894.2(PAX6):c.*21dup (p.Ter437=)	ELP4, PAX6 (E245fs +4 more)	Duplication (3 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1278291	NM_001368894.2(PAX6):c.*21del (p.Ter437=)	ELP4, PAX6 (K244fs +4 more)	Deletion (no sequence alteration +3 more)	not provided +1 more	GBenign/Likely benign
Select item 1237893	NM_001368894.2(PAX6):c.20_21del (p.Ter437=)	ELP4, PAX6 (K244fs +4 more)	Deletion (3 prime UTR variant +3 more)	PAX6-related ocular dysgenesis +2 more	GBenign/Likely benign
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)	Irido-corneo-trabecular dysgenesis +8 more	GPathogenic/Likely pathogenic
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 676688	NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys)	ELP4, PAX6 (S372R +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1206596	NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)	ELP4, PAX6 (S236N +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 817624	NM_001368894.2(PAX6):c.1242del (p.Val415fs)	ELP4, PAX6 (V350fs +13 more)	Deletion (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 379272	NM_001368894.2(PAX6):c.1226-2A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1211071	NM_001368894.2(PAX6):c.1226-242dup	ELP4, PAX6	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1266340	NM_001368894.2(PAX6):c.1226-242del	ELP4, PAX6	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283019	NM_001368894.2(PAX6):c.1225+43T>G	PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2576696	NM_001368894.2(PAX6):c.1225+1_1225+8delinsC	PAX6	Indel (splice donor variant +1 more)	not provided	GPathogenic
Select item 449734	NM_001368894.2(PAX6):c.1225+1G>T	PAX6	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 290049	NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Irido-corneo-trabecular dysgenesis +8 more	GConflicting classifications of pathogenicity
Select item 1324848	NM_001368894.2(PAX6):c.1166dup (p.His390fs)	PAX6 (H175fs +8 more)	Duplication (frameshift variant +2 more)	Aniridia 1 +2 more	GConflicting classifications of pathogenicity
Select item 524067	NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs)	PAX6 (P281fs +8 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3342556	NM_001368894.2(PAX6):c.1094C>A (p.Thr365Asn)	PAX6 (T365N +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1254586	NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)	PAX6 (Q149* +8 more)	Single nucleotide variant (nonsense +2 more)	Aniridia 1 +2 more	GPathogenic
Select item 429514	NM_001368894.2(PAX6):c.1081del (p.Val361fs)	PAX6 (V146fs +8 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 431999	NM_001368894.2(PAX6):c.1078C>G (p.Pro360Ala)	PAX6 (P346A +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3468	NM_001368894.2(PAX6):c.1075-2A>G	PAX6	Single nucleotide variant (splice acceptor variant +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 674009	NM_001368894.2(PAX6):c.1075-174G>A	PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675001	NM_001368894.2(PAX6):c.1074+107C>T	PAX6 (S380L)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1678756	NM_001368894.2(PAX6):c.1074+3_1074+6del	PAX6 (S346fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167416	NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3371737	NM_001368894.2(PAX6):c.1024G>T (p.Ala342Ser)	PAX6 (A328S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372444	NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)	PAX6 (R317* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 1187268	NM_001368894.2(PAX6):c.961del (p.Ser321fs)	PAX6 (S106fs +9 more)	Deletion (frameshift variant +1 more)	not provided	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 390567	NM_001368894.2(PAX6):c.959-3C>G	PAX6	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372443	NM_001368894.2(PAX6):c.959-9T>A	PAX6	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1243914	NM_001368894.2(PAX6):c.958+33T>A	PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1475474	NM_001368894.2(PAX6):c.958+4A>T	PAX6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429725	NM_001368894.2(PAX6):c.958+2T>C	PAX6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 372442	NM_001368894.2(PAX6):c.958+1G>C	PAX6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 304356	NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 817598	NM_001368894.2(PAX6):c.866_867del (p.Arg289fs)	PAX6 (R222fs +9 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1810585	NM_001368894.2(PAX6):c.844_848del (p.Glu282fs)	PAX6 (E132fs +9 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 449967	NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter)	PAX6 (E268* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 431004	NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)	PAX6 (W265* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +9 more	GPathogenic
Select item 1305630	NM_001368894.2(PAX6):c.808G>C (p.Val270Leu)	PAX6 (V120L +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1183523	NM_001368894.2(PAX6):c.808-1G>T	PAX6	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 441115	NM_001368894.2(PAX6):c.808-2A>C	PAX6	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 258168	NM_001368894.2(PAX6):c.808-12C>T	PAX6	Single nucleotide variant (intron variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +10 more	GConflicting classifications of pathogenicity
Select item 1190283	NM_001368894.2(PAX6):c.807+6G>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1314316	NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)	PAX6 (R104Q +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3467	NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)	PAX6 (R240* +9 more)	Single nucleotide variant (nonsense)	Aniridia 1 +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 304357	NM_001368894.2(PAX6):c.753G>A (p.Val251=)	PAX6	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1697984	NM_001368894.2(PAX6):c.734_735del (p.Arg245fs)	PAX6 (R164fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1271937	NM_001368894.2(PAX6):c.725-234A>T	PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280773	NM_001368894.2(PAX6):c.724+152TG[20]	PAX6	Microsatellite (intron variant)	not provided	GBenign
Select item 1272289	NM_001368894.2(PAX6):c.724+152TG[21]	PAX6	Microsatellite (intron variant)	not provided	GBenign
Select item 1252254	NM_001368894.2(PAX6):c.724+152TG[18]	PAX6	Microsatellite (intron variant)	not provided	GBenign
Select item 1247256	NM_001368894.2(PAX6):c.724+152TG[19]	PAX6	Microsatellite (intron variant)	not provided	GBenign
Select item 1241545	NM_001368894.2(PAX6):c.724+152TG[17]	PAX6	Microsatellite (intron variant)	not provided	GBenign
Select item 1206620	NM_001368894.2(PAX6):c.724+152TG[27]	PAX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +4 more	GPathogenic/Likely pathogenic
Select item 3476	NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)	PAX6 (Q205* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 3466	NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)	PAX6 (R203* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 833772	NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)	PAX6 (G208R +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +2 more	GConflicting classifications of pathogenicity
Select item 817299	NM_001368894.2(PAX6):c.609dup (p.Ile204fs)	PAX6 (I123fs +8 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 280485	NM_001368894.2(PAX6):c.593del (p.Gly198fs)	PAX6 (G199fs +8 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 489045	NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)	PAX6 (C177* +8 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1201732	NM_001368894.2(PAX6):c.566-146T>A	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297906	NM_001368894.2(PAX6):c.566-161G>A	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216600	NM_001368894.2(PAX6):c.566-173G>T	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3340619	NM_001368894.2(PAX6):c.562C>T (p.Gln188Ter)	PAX6 (Q107* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1342028	NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter)	PAX6 (S100* +8 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 771097	NM_001368894.2(PAX6):c.537G>C (p.Gly179=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +2 more	GLikely benign
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 379847	NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)	PAX6 (W162* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic/Likely pathogenic
Select item 942257	NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)	PAX6 (W243* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 508559	NM_001368894.2(PAX6):c.465C>G (p.Gly155=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 452002	NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)	PAX6 (R128S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 279861	NM_001368894.2(PAX6):c.413del (p.Asn138fs)	PAX6 (N124fs +7 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 488710	NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)	PAX6 (S122* +7 more)	Single nucleotide variant (nonsense +2 more)	Aniridia 1 +2 more	GPathogenic/Likely pathogenic
Select item 1193760	NM_001368894.2(PAX6):c.399+255A>G	PAX6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1180952	NM_001368894.2(PAX6):c.399+38G>A	PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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