CN033288[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976061	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	IGF2, INS-IGF2 (G34C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +3 more	GLikely pathogenic
Select item 666088	NM_024426.6(WT1):c.1562C>T (p.Ala521Val)	WT1 (A125V +14 more)	Single nucleotide variant (missense variant +1 more)	11p partial monosomy syndrome +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 +8 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)	Wilms tumor 1 +7 more	GUncertain significance
Select item 414073	NM_024426.6(WT1):c.1448-10G>A	WT1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 3493	NM_024426.6(WT1):c.1447+5G>A	WT1	Single nucleotide variant (intron variant)	11p partial monosomy syndrome +10 more	GPathogenic
Select item 419332	NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	WT1 (R250Q +10 more)	Single nucleotide variant (missense variant +1 more)	WT1-related Wilms tumor +11 more	GPathogenic/Likely pathogenic
Select item 3487	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1 (R250W +9 more)	Single nucleotide variant (missense variant +1 more)	11p partial monosomy syndrome +9 more	GPathogenic
Select item 599100	NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)	WT1 (R246Q +10 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +8 more	GConflicting classifications of pathogenicity
Select item 3494	NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)	WT1 (R246* +9 more)	Single nucleotide variant (nonsense +1 more)	Mesothelioma, malignant +9 more	GPathogenic
Select item 3488	NM_024426.6(WT1):c.1316G>A (p.Arg439His)	WT1 (R222H +8 more)	Single nucleotide variant (missense variant +1 more)	Mesothelioma, malignant +8 more	GPathogenic
Select item 3497	NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)	WT1 (R218* +8 more)	Single nucleotide variant (nonsense +1 more)	Frasier syndrome +8 more	GPathogenic
Select item 1588499	NM_024426.6(WT1):c.1264+19C>T	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GLikely benign
Select item 943533	NM_024426.6(WT1):c.1253G>T (p.Arg418Met)	WT1 (R184M +10 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +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)	Meacham syndrome +7 more	GUncertain significance
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 476680	NM_024426.6(WT1):c.1161A>G (p.Ala387=)	WT1	Single nucleotide variant (synonymous variant +2 more)	WT1-related disorder +8 more	GBenign/Likely benign
Select item 543134	NM_024426.6(WT1):c.1158G>A (p.Ser386=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Meacham syndrome +7 more	GConflicting classifications of pathogenicity
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 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 1038185	NM_024426.6(WT1):c.1127T>C (p.Val376Ala)	WT1 (V359A +9 more)	Single nucleotide variant (missense variant +2 more)	11p partial monosomy syndrome +7 more	GUncertain significance
Select item 135454	NM_024426.6(WT1):c.1092C>A (p.His364Gln)	WT1 (H147Q +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +7 more	GUncertain significance
Select item 543156	NM_024426.6(WT1):c.1038C>T (p.Ser346=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Meacham syndrome +7 more	GLikely benign
Select item 1576116	NM_024426.6(WT1):c.1016+15C>T	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GLikely benign
Select item 1017207	NM_024426.6(WT1):c.989C>T (p.Ser330Leu)	WT1 (S113L +4 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +7 more	GUncertain significance
Select item 241489	NM_024426.6(WT1):c.945C>T (p.Asn315=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Frasier syndrome +7 more	GLikely benign
Select item 1426680	NM_024426.6(WT1):c.887+19C>G	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GConflicting classifications of pathogenicity
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 414082	NM_024426.6(WT1):c.849C>T (p.Thr283=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Meacham syndrome +7 more	GLikely benign
Select item 1470255	NM_024426.6(WT1):c.785-14G>A	WT1	Single nucleotide variant (intron variant)	Drash syndrome +7 more	GUncertain significance
Select item 1540733	NM_024426.6(WT1):c.780G>A (p.Ser260=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Wilms tumor 1 +7 more	GLikely benign
Select item 543124	NM_024426.6(WT1):c.779C>T (p.Ser260Leu)	WT1 (S43L +2 more)	Single nucleotide variant (missense variant +1 more)	Meacham syndrome +7 more	GUncertain significance
Select item 180586	NM_024426.6(WT1):c.764T>A (p.Met255Lys)	WT1 (M38K +2 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +9 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)	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 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 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 566230	NM_024426.6(WT1):c.685G>A (p.Gly229Arg)	WT1 (G12R +1 more)	Single nucleotide variant (missense variant +1 more)	Meacham syndrome +8 more	GUncertain significance
Select item 543147	NM_024426.6(WT1):c.662-10G>T	WT1	Single nucleotide variant (intron variant)	Meacham syndrome +7 more	GLikely benign
Select item 1495132	NM_024426.6(WT1):c.661+15G>T	LOC107982234, WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GConflicting classifications of pathogenicity
Select item 654381	NM_024426.6(WT1):c.658C>A (p.Gln220Lys)	LOC107982234, WT1 (Q220K)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 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)	Aniridia 1 +7 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)	Drash syndrome +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)	Wilms tumor 1 +7 more	GUncertain significance
Select item 406685	NM_024426.6(WT1):c.600G>A (p.Met200Ile)	LOC107982234, WT1 (M200I)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +7 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 241483	NM_024426.6(WT1):c.543C>T (p.Arg181=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +9 more	GBenign/Likely benign
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 406695	NM_024426.6(WT1):c.439C>G (p.Gln147Glu)	LOC107982234, WT1 (Q147E)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +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)	Aniridia 1 +7 more	GUncertain significance
Select item 578155	NM_024426.6(WT1):c.386C>T (p.Pro129Leu)	LOC107982234, WT1 (P129L)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +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 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 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 476696	NM_024426.6(WT1):c.218A>T (p.Gln73Leu)	LOC107982234, WT1 (Q73L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +10 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)	not provided +8 more	GUncertain significance
Select item 1809679	NM_024426.6(WT1):c.163G>A (p.Ala55Thr)	LOC107982234, WT1 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 706001	NM_024426.6(WT1):c.115C>A (p.Arg39=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +8 more	GLikely benign
Select item 543119	NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)	LOC107982234, WT1 (A10Y)	Indel (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 695998	NM_024426.6(WT1):c.27G>A (p.Pro9=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +10 more	GLikely benign
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 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Familial cancer of breast +13 more	GBenign/Likely benign
Select item 52808	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37916	NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)	BRCA2 (R155T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +11 more	GConflicting classifications of pathogenicity
Select item 233024	NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)	BRCA2 (K169Q)	Single nucleotide variant (missense variant)	Wilms tumor 1 +9 more	GUncertain significance
Select item 37993	NM_000059.4(BRCA2):c.574_575del (p.Met192fs)	BRCA2 (M192fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51943	NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)	BRCA2 (W194*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 576367	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2 (L204fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +10 more	GPathogenic/Likely pathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141793	NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)	BRCA2 (H334R)	Single nucleotide variant (missense variant)	Wilms tumor 1 +10 more	GConflicting classifications of pathogenicity
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 96761	NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)	BRCA2 (K382N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +10 more	GConflicting classifications of pathogenicity
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184036	NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 187437	NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)	BRCA2 (L428I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 91750	NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)	BRCA2 (R435K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 51116	NM_000059.4(BRCA2):c.1395A>C (p.Val465=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51118	NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)	BRCA2 (K467*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96764	NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)	BRCA2 (T478K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 531316	NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)	BRCA2 (F506S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 125947	NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)	BRCA2 (K513R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51221	NM_000059.4(BRCA2):c.1889del (p.Thr630fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 462246	NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)	BRCA2 (D635E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +9 more	GConflicting classifications of pathogenicity
Select item 141283	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +11 more	GPathogenic/Likely pathogenic
Select item 51230	NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37770	NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	BRCA2 (P655R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51246	NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)	BRCA2 (S708T)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 51250	NM_000059.4(BRCA2):c.2150del (p.Cys717fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96780	NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	BRCA2 (I729T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +13 more	GConflicting classifications of pathogenicity
Select item 51257	NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2 (Q742*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 187129	NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)	BRCA2 (S744L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity

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