ClinVar for MedGen (Select 462918) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 207

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250365	NM_024426.6(WT1):c.662-1910G>T	LOC107982234, WT1	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 4	GLikely benign
Select item 3235221	NM_024426.6(WT1):c.1403C>G (p.Ser468Cys)	WT1 (S214C +13 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GUncertain significance
Select item 3235191	NM_024426.6(WT1):c.1277A>G (p.Tyr426Cys)	WT1 (Y172C +12 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GUncertain significance
Select item 3235157	NM_024426.6(WT1):c.434T>G (p.Ile145Ser)	LOC107982234, WT1 (I140S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GUncertain significance
Select item 2692343	NM_024426.6(WT1):c.1447+4C>G	WT1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 4	GUncertain significance
Select item 2681780	NM_024426.6(WT1):c.1504G>C (p.Asp502His)	WT1 (D106H +14 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681779	NM_024426.6(WT1):c.1367T>G (p.Phe456Cys)	WT1 (F202C +11 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681778	NM_024426.6(WT1):c.1394T>C (p.Phe465Ser)	WT1 (F211S +11 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681777	NM_024426.6(WT1):c.896T>A (p.Leu299Ter)	WT1 (L258* +4 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681776	NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)	WT1 (Q208* +11 more)	Single nucleotide variant (nonsense +2 more)	Drash syndrome +3 more	GLikely pathogenic
Select item 2584358	NM_024426.6(WT1):c.1268A>G (p.Glu423Gly)	WT1 (E169G +10 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2182681	NM_024426.6(WT1):c.392C>T (p.Pro131Leu)	LOC107982234, WT1 (P126L +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1809679	NM_024426.6(WT1):c.163G>A (p.Ala55Thr)	WT1, LOC107982234 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1708395	NM_024426.6(WT1):c.1322A>T (p.Asp441Val)	WT1 (D187V +10 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 1667997	NM_024426.6(WT1):c.887+14G>A	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GBenign/Likely benign
Select item 1588499	NM_024426.6(WT1):c.1264+19C>T	WT1	Single nucleotide variant (intron variant)	Frasier syndrome +7 more	GLikely benign
Select item 1576116	NM_024426.6(WT1):c.1016+15C>T	WT1	Single nucleotide variant (intron variant)	Aniridia 1 +7 more	GLikely benign
Select item 1540733	NM_024426.6(WT1):c.780G>A (p.Ser260=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Frasier syndrome +7 more	GLikely benign
Select item 1495132	NM_024426.6(WT1):c.661+15G>T	LOC107982234, WT1	Single nucleotide variant (intron variant)	Frasier syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1470255	NM_024426.6(WT1):c.785-14G>A	WT1	Single nucleotide variant (intron variant)	Frasier syndrome +7 more	GUncertain significance
Select item 1426680	NM_024426.6(WT1):c.887+19C>G	WT1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 1409524	NM_024426.6(WT1):c.459C>T (p.Gly153=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +7 more	GConflicting classifications of pathogenicity
Select item 1077036	NM_024426.6(WT1):c.1534C>T (p.Gln512Ter)	WT1 (Q116* +14 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 4	GPathogenic
Select item 1038185	NM_024426.6(WT1):c.1127T>C (p.Val376Ala)	WT1 (V359A +9 more)	Single nucleotide variant (missense variant +2 more)	Drash syndrome +7 more	GUncertain significance
Select item 1017207	NM_024426.6(WT1):c.989C>T (p.Ser330Leu)	WT1 (S113L +4 more)	Single nucleotide variant (missense variant +2 more)	Frasier syndrome +7 more	GUncertain significance
Select item 978564	NM_024426.6(WT1):c.278G>C (p.Gly93Ala)	LOC107982234, WT1 (G93A)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GPathogenic
Select item 978563	NM_024426.6(WT1):c.250C>T (p.Leu84=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +4 more	GConflicting classifications of pathogenicity
Select item 971511	NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)	WT1 (S171P +9 more)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 966883	NM_024426.6(WT1):c.722C>T (p.Ala241Val)	WT1 (A241V +2 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +7 more	GUncertain significance
Select item 961780	NM_024426.6(WT1):c.653G>A (p.Arg218His)	LOC107982234, WT1 (R218H)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +7 more	GUncertain significance
Select item 954239	NM_024426.6(WT1):c.351C>T (p.Gly117=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +7 more	GUncertain significance
Select item 943533	NM_024426.6(WT1):c.1253G>T (p.Arg418Met)	WT1 (R184M +10 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +8 more	GUncertain significance
Select item 939929	NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)	WT1 (L517P +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +9 more	GUncertain significance
Select item 935383	NM_024426.6(WT1):c.646G>A (p.Ala216Thr)	LOC107982234, WT1 (A216T)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 879620	NM_024426.6(WT1):c.813G>C (p.Pro271=)	WT1	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 879521	NM_024426.6(WT1):c.*100A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GUncertain significance
Select item 879412	NM_024426.6(WT1):c.*1066T>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GUncertain significance
Select item 878161	NM_024426.6(WT1):c.973G>A (p.Ala325Thr)	WT1 (A108T +4 more)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +5 more	GUncertain significance
Select item 878010	NM_024426.6(WT1):c.*629T>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 877955	NM_024426.6(WT1):c.*5T>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 877954	NM_024426.6(WT1):c.*12C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 877311	NM_024426.6(WT1):c.-87C>T	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 877249	NM_024426.6(WT1):c.298C>G (p.Pro100Ala)	LOC107982234, WT1 (P100A)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +2 more	GUncertain significance
Select item 877125	NM_024426.6(WT1):c.1020C>T (p.His340=)	WT1	Single nucleotide variant (synonymous variant +3 more)	Wilms tumor 1 +5 more	GConflicting classifications of pathogenicity
Select item 872897	NM_024426.6(WT1):c.500T>A (p.Val167Asp)	LOC107982234, WT1 (V167D +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 864517	NM_024426.6(WT1):c.26C>T (p.Pro9Leu)	LOC107982234, WT1 (P9L)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 861660	NM_024426.6(WT1):c.628T>G (p.Cys210Gly)	LOC107982234, WT1 (C210G)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +7 more	GUncertain significance
Select item 842948	NM_024426.6(WT1):c.620T>G (p.Leu207Arg)	LOC107982234, WT1 (L207R)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 840419	NM_024426.6(WT1):c.313G>T (p.Ala105Ser)	LOC107982234, WT1 (A105S)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +5 more	GUncertain significance
Select item 721377	NM_024426.6(WT1):c.402G>A (p.Pro134=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +6 more	GConflicting classifications of pathogenicity
Select item 706001	NM_024426.6(WT1):c.115C>A (p.Arg39=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Frasier syndrome +8 more	GLikely benign
Select item 695998	NM_024426.6(WT1):c.27G>A (p.Pro9=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GLikely benign
Select item 666088	NM_024426.6(WT1):c.1562C>T (p.Ala521Val)	WT1 (A125V +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 665246	NM_024426.6(WT1):c.591G>T (p.Gln197His)	LOC107982234, WT1 (Q197H)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +7 more	GUncertain significance
Select item 664113	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	WT1 (R480Q +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GPathogenic
Select item 663192	NM_024426.6(WT1):c.223G>A (p.Gly75Ser)	LOC107982234, WT1 (G75S)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +7 more	GUncertain significance
Select item 659841	NM_024426.6(WT1):c.1150G>A (p.Val384Ile)	WT1 (V167I +9 more)	Single nucleotide variant (missense variant +2 more)	Drash syndrome +7 more	GUncertain significance
Select item 655847	NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)	WT1 (K476R +14 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +8 more	GUncertain significance
Select item 654381	NM_024426.6(WT1):c.658C>A (p.Gln220Lys)	LOC107982234, WT1 (Q220K)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +8 more	GUncertain significance
Select item 639084	NM_024426.6(WT1):c.386C>A (p.Pro129Gln)	LOC107982234, WT1 (P129Q)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +7 more	GUncertain significance
Select item 635489	NM_024426.6(WT1):c.1216A>G (p.Arg406Gly)	WT1 (R189G +10 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GUncertain significance
Select item 625171	NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)	WT1 (R246P +10 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +1 more	GUncertain significance
Select item 599126	NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)	WT1 (R177C +8 more)	Single nucleotide variant (missense variant +2 more)	Focal segmental glomerulosclerosis +5 more	GUncertain significance
Select item 599100	NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)	WT1 (R246Q +10 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +9 more	GConflicting classifications of pathogenicity
Select item 578155	NM_024426.6(WT1):c.386C>T (p.Pro129Leu)	LOC107982234, WT1 (P129L)	Single nucleotide variant (missense variant +1 more)	Meacham syndrome +7 more	GUncertain significance
Select item 566230	NM_024426.6(WT1):c.685G>A (p.Gly229Arg)	WT1 (G12R +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 547167	NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)	WT1 (D252Y +10 more)	Single nucleotide variant (missense variant +1 more)	WT1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 543160	NM_024426.6(WT1):c.708G>A (p.Thr236=)	WT1	Single nucleotide variant (synonymous variant +3 more)	Wilms tumor 1 +7 more	GLikely benign
Select item 543156	NM_024426.6(WT1):c.1038C>T (p.Ser346=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Wilms tumor 1 +7 more	GLikely benign
Select item 543147	NM_024426.6(WT1):c.662-10G>T	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GLikely benign
Select item 543138	NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)	WT1 (P164L +8 more)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 543136	NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)	WT1 (R189S +9 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 543134	NM_024426.6(WT1):c.1158G>A (p.Ser386=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Wilms tumor 1 +8 more	GConflicting classifications of pathogenicity
Select item 543129	NM_024426.6(WT1):c.124G>A (p.Gly42Ser)	LOC107982234, WT1 (G42S)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +6 more	GConflicting classifications of pathogenicity
Select item 543124	NM_024426.6(WT1):c.779C>T (p.Ser260Leu)	WT1 (S43L +2 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 543119	NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)	LOC107982234, WT1 (A10Y)	Indel (missense variant +1 more)	Drash syndrome +9 more	GUncertain significance
Select item 543118	NM_024426.6(WT1):c.203G>A (p.Gly68Glu)	LOC107982234, WT1 (G68E)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 522546	NM_024426.6(WT1):c.341C>T (p.Ala114Val)	LOC107982234, WT1 (A114V)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 522401	NM_024426.6(WT1):c.1259A>C (p.His420Pro)	WT1 (H203P +9 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 515922	NM_024426.6(WT1):c.1568G>A (p.Ter523=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Frasier syndrome +7 more	GConflicting classifications of pathogenicity
Select item 476718	NM_024426.6(WT1):c.746T>G (p.Phe249Cys)	WT1 (F32C +1 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +7 more	GUncertain significance
Select item 476699	NM_024426.6(WT1):c.314C>G (p.Ala105Gly)	LOC107982234, WT1 (A105G)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +8 more	GConflicting classifications of pathogenicity
Select item 476696	NM_024426.6(WT1):c.218A>T (p.Gln73Leu)	LOC107982234, WT1 (Q73L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +10 more	GUncertain significance
Select item 476680	NM_024426.6(WT1):c.1161A>G (p.Ala387=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Drash syndrome +7 more	GBenign/Likely benign
Select item 476678	NM_024426.6(WT1):c.1117G>A (p.Val373Met)	WT1 (V156M +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 438653	NM_024426.6(WT1):c.512G>T (p.Gly171Val)	LOC107982234, WT1 (G171V)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GLikely pathogenic
Select item 419332	NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	WT1 (R250Q +10 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +10 more	GPathogenic/Likely pathogenic
Select item 414082	NM_024426.6(WT1):c.849C>T (p.Thr283=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +7 more	GLikely benign
Select item 414080	NM_024426.6(WT1):c.1182C>T (p.Arg394=)	WT1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 414075	NM_024426.6(WT1):c.1017-9T>C	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GConflicting classifications of pathogenicity
Select item 414073	NM_024426.6(WT1):c.1448-10G>A	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +8 more	GBenign/Likely benign
Select item 406695	NM_024426.6(WT1):c.439C>G (p.Gln147Glu)	LOC107982234, WT1 (Q147E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GUncertain significance
Select item 406692	NM_024426.6(WT1):c.1124G>A (p.Arg375His)	WT1 (R158H +8 more)	Single nucleotide variant (missense variant +2 more)	Meacham syndrome +6 more	GConflicting classifications of pathogenicity
Select item 406688	NM_024426.6(WT1):c.785G>A (p.Gly262Asp)	WT1 (G45D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 406685	NM_024426.6(WT1):c.600G>A (p.Met200Ile)	LOC107982234, WT1 (M200I)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 403610	NM_024426.6(WT1):c.977G>C (p.Gly326Ala)	WT1 (G109A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GUncertain significance
Select item 392045	NM_024426.6(WT1):c.691C>T (p.Pro231Ser)	WT1 (P14S +1 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +8 more	GUncertain significance
Select item 304442	NM_024426.6(WT1):c.-140C>T	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304441	NM_024426.6(WT1):c.-135G>A	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304440	NM_024426.6(WT1):c.-114T>A	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance

<< First< Prev

Page of 3