PAX6[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 694

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2030794	NM_001368894.2(PAX6):c.1225+5G>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely pathogenic
Select item 800477	NM_001368894.2(PAX6):c.1225+4dup	PAX6	Duplication (intron variant)	Aniridia 1	GUncertain significance
Select item 658957	NM_001368894.2(PAX6):c.1225+5G>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GPathogenic
Select item 431009	NM_001368894.2(PAX6):c.1225+2T>C	PAX6	Single nucleotide variant (splice donor variant +1 more)	Aniridia 1	GPathogenic
Select item 3064412	NM_001368894.2(PAX6):c.1211_1225+1del	PAX6	Deletion (splice donor variant +1 more)	Aniridia 1	GUncertain significance
Select item 492996	NM_001368894.2(PAX6):c.1225+1G>A	PAX6	Single nucleotide variant (splice donor variant +1 more)	Aniridia 1	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 1459449	NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)	PAX6 (G395R +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 431008	NM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter)	PAX6 (G395* +8 more)	Single nucleotide variant (intron variant +2 more)	Aniridia 1	GPathogenic
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 1652503	NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +7 more	GLikely benign
Select item 258167	NM_001368894.2(PAX6):c.1215C>T (p.Thr405=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3478	NM_001368894.2(PAX6):c.1213A>G (p.Thr405Ala)	PAX6 (T391A +8 more)	Single nucleotide variant (missense variant +2 more)	Optic nerve aplasia, bilateral	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 1034147	NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)	PAX6 (M250V +8 more)	Single nucleotide variant (missense variant +2 more)	Coloboma of optic nerve +2 more	GUncertain significance
Select item 2691816	NM_001368894.2(PAX6):c.1196del (p.Pro399fs)	PAX6 (P184fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 1562963	NM_001368894.2(PAX6):c.1194G>A (p.Gln398=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 2933414	NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)	PAX6 (M180I +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2085945	NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)	PAX6 (H313Q +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
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 3208982	NM_001368894.2(PAX6):c.1173G>A (p.Met391Ile)	PAX6 (M176I +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1981981	NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)	PAX6 (H175N +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
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 1684987	NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)	PAX6 (P174Q +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 1574088	NM_001368894.2(PAX6):c.1164C>T (p.Pro388=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 2480424	NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)	PAX6 (T373A +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2058958	NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)	PAX6 (T318I +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 1467080	NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln)	PAX6 (R392Q +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2141898	NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)	PAX6 (R231W +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 1591779	NM_001368894.2(PAX6):c.1131G>A (p.Ser377=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 1478650	NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu)	PAX6 (S227L +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 546663	NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)	PAX6 (S363* +8 more)	Single nucleotide variant (nonsense +2 more)	Irido-corneo-trabecular dysgenesis +2 more	GPathogenic/Likely pathogenic
Select item 1429002	NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile)	PAX6 (T224I +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2923612	NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
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 460455	NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs)	PAX6 (C220fs +8 more)	Duplication (frameshift variant +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 2118874	NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)	PAX6 (Y301* +8 more)	Duplication (nonsense +2 more)	Irido-corneo-trabecular dysgenesis +1 more	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 1157674	NM_001368894.2(PAX6):c.1101A>G (p.Ser367=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
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 1570781	NM_001368894.2(PAX6):c.1098C>T (p.Ser366=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
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 431007	NM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs)	PAX6 (S282fs +8 more)	Microsatellite (frameshift variant +2 more)	Aniridia 1	GPathogenic
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 800472	NM_001368894.2(PAX6):c.1086dup (p.Ser363fs)	PAX6 (S148fs +8 more)	Duplication (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 1390086	NM_001368894.2(PAX6):c.1086del (p.Ser363fs)	PAX6 (S148fs +8 more)	Deletion (frameshift variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 1365672	NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)	PAX6 (V294I +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
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 800471	NM_001368894.2(PAX6):c.1079del (p.Pro360fs)	PAX6 (P293fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	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 2930384	NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)	PAX6 (P345S +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
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 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 2940883	NM_001368894.2(PAX6):c.1075-3C>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 289617	NM_001368894.2(PAX6):c.1075-3C>G	PAX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 806640	NM_001368894.2(PAX6):c.1075-4A>T	PAX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1984893	NM_001368894.2(PAX6):c.1075-8C>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 674009	NM_001368894.2(PAX6):c.1075-174G>A	PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167569	NM_001368894.2(PAX6):c.1075-275A>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GBenign
Select item 3036407	NM_001368894.2(PAX6):c.1074+140G>A	PAX6 (R391Q)	Single nucleotide variant (missense variant +1 more)	PAX6-related disorder	GUncertain significance
Select item 1048792	NM_001368894.2(PAX6):c.1074+139C>T	PAX6 (R391W)	Single nucleotide variant (missense variant +1 more)	Coloboma, ocular, autosomal dominant	GUncertain significance
Select item 3043514	NM_001368894.2(PAX6):c.1074+138T>C	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
Select item 3037056	NM_001368894.2(PAX6):c.1074+114C>T	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
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 1997512	NM_001368894.2(PAX6):c.1074+16G>A	PAX6 (G350S)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 1595495	NM_001368894.2(PAX6):c.1074+9G>A	PAX6	Single nucleotide variant (synonymous variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 1983471	NM_001368894.2(PAX6):c.1074+8C>T	PAX6 (A347V)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2106337	NM_001368894.2(PAX6):c.1074+6T>C	PAX6	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
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 431006	NM_001368894.2(PAX6):c.1074+6T>G	PAX6 (S346R)	Single nucleotide variant (missense variant +1 more)	Aniridia 1	GLikely pathogenic
Select item 2000039	NM_001368894.2(PAX6):c.1074+4A>G	PAX6 (S346G)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 802666	NM_001368894.2(PAX6):c.1074+3A>G	PAX6	Single nucleotide variant (intron variant +1 more)	Aniridia 1	GUncertain significance
Select item 1434660	NM_001368894.2(PAX6):c.1074+1G>C	PAX6 (V345L)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 871511	NM_001368894.2(PAX6):c.1074+1G>A	PAX6 (V345I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2626933	NM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter)	PAX6 (Q143* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 1582918	NM_001368894.2(PAX6):c.1068T>G (p.Pro356=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 800464	NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer)	PAX6	Duplication (nonsense +2 more)	Aniridia 1	GPathogenic
Select item 1389199	NM_001368894.2(PAX6):c.1061del (p.Asn354fs)	PAX6 (N273fs +9 more)	Deletion (frameshift variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	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 1525797	NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)	PAX6 (S349T +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 1915319	NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2942092	NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)	PAX6 (P280fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 167416	NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +3 more	GConflicting classifications of pathogenicity
Select item 2936372	NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)	PAX6 (P330L +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 943112	NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)	PAX6 (A328fs +9 more)	Deletion (frameshift variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2016946	NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 460465	NM_001368894.2(PAX6):c.1023C>T (p.Ser341=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2414487	NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)	PAX6 (S126G +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 800469	NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)	PAX6	Deletion (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 1567313	NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 191016	NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter)	PAX6 (Y326* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2443075	NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)	PAX6 (Y125fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 2153006	NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 1710346	NM_001368894.2(PAX6):c.1017del (p.Tyr340fs)	PAX6 (Y125fs +9 more)	Deletion (frameshift variant +1 more)	Congenital aniridia	GPathogenic
Select item 956853	NM_001368894.2(PAX6):c.1009del (p.Thr337fs)	PAX6 (T122fs +9 more)	Deletion (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic

<< First< Prev

Page of 7