ClinVar (all) for Orgtrack (Select 506177) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1345034	MN1-ETV6 fusion		Translocation	Acute myeloid leukemia	GPathogenic
Select item 995910	NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)	RB1 (K765*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995909	NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)	RB1 (E746fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995908	NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)	RB1 (Q770*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995907	NM_000321.3(RB1):c.-206_-189del	RB1, RB1-DT	Deletion	Retinoblastoma	GLikely pathogenic
Select item 995906	NM_000321.3(RB1):c.840dup (p.His281fs)	RB1 (H281fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995905	NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)	RB1 (L523*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995904	NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	PHOX2B, PHOX2B-AS1	Deletion (nonsense)	Congenital central hypoventilation	GPathogenic
Select item 995903	NM_024675.4(PALB2):c.108+2T>C	PALB2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 995902	NM_000268.4(NF2):c.1613dup (p.Leu539fs)	NF2 (L456fs +3 more)	Duplication (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 995901	NM_000268.4(NF2):c.470_479dup (p.Gly161fs)	NF2 (G119fs +3 more)	Duplication (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 995900	NM_001042492.3(NF1):c.4388del (p.Pro1463fs)	NF1 (P1442fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 995899	NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)	NF1 (S1078fs)	Duplication (frameshift variant)	NF1-related disorder +2 more	GPathogenic
Select item 995898	NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)	NF1 (L1607fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 995897	NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)	SMARCB1 (R149* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 995895	NM_000135.4(FANCA):c.4011-3_4011-2del	FANCA, ZNF276	Deletion (splice acceptor variant +2 more)	Fanconi anemia +1 more	GLikely pathogenic
Select item 995893	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	ERCC3 (R388* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B +1 more	GPathogenic/Likely pathogenic
Select item 995892	NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs)	CDKN2A (A111fs +2 more)	Duplication (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely pathogenic
Select item 995891	NM_007294.4(BRCA1):c.3016del (p.His1006fs)	BRCA1 (H1006fs +20 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 995890	NM_000321.3(RB1):c.1206C>T (p.Ser402=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 995889	NM_000321.3(RB1):c.939+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 995888	NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)	RB1 (S811fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995887	NM_000321.3:c.2265_2343delinsAT	RB1	Indel	Retinoblastoma	GLikely pathogenic
Select item 995886	NM_000321.3(RB1):c.2325+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 995885	NM_000321.3(RB1):c.2520+6T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely pathogenic
Select item 995884	NM_000321.3(RB1):c.719-1_719delinsAG	RB1	Indel (splice acceptor variant)	Retinoblastoma	GLikely pathogenic
Select item 995883	NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)	RB1	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995882	NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)	RB1 (K713fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995881	NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)	RB1 (L586fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995880	NM_000321.3(RB1):c.1333-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma +1 more	GPathogenic
Select item 974247	NM_000135.4(FANCA):c.2604_2609del	FANCA, LOC130059837	Microsatellite (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 863644	NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)	RECQL4 (L927R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 821155	NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)	RB1	Duplication (nonsense +1 more)	Retinoblastoma +1 more	GPathogenic
Select item 660662	NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)	MLH1 (Q104* +5 more)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GPathogenic
Select item 656669	NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)	SDHA (W541* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 648498	NM_002439.5(MSH3):c.1341-1G>T	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +3 more	GConflicting classifications of pathogenicity
Select item 640295	NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	RB1 (E545fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 640023	NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)	PALB2 (Q377*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 547041	NM_004260.4(RECQL4):c.359_374delGACCAGCCCTGGGCCG	RECQL4	Deletion (splice acceptor variant)	Rothmund-Thomson syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 545889	NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)	SMARCA4 (K586fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 545722	NM_004168.4(SDHA):c.897_1260+1del	SDHA	Deletion (splice acceptor variant +1 more)	Paragangliomas 5	GPathogenic
Select item 481882	NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)	NF1 (Q162*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 472288	NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA (E490* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 459307	NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)	RECQL4 (C389fs)	Microsatellite (frameshift variant)	Baller-Gerold syndrome +2 more	GPathogenic/Likely pathogenic
Select item 458120	NM_000321.3(RB1):c.1333-2A>G	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 434027	NM_000535.7(PMS2):c.538-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 428369	NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)	MSH6 (P163fs +1 more)	Indel (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 376575	NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	TP53 (C106S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 279889	NM_003002.4(SDHD):c.53dup (p.Leu19fs)	SDHD (L19fs)	Duplication (frameshift variant +2 more)	Pheochromocytoma +5 more	GPathogenic
Select item 265515	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	ERCC3 (R109* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 254341	NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter)	DICER1 (Q1685*)	Single nucleotide variant (nonsense)	DICER1-related tumor predisposition +1 more	GPathogenic
Select item 245970	NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)	MSH2 (Y118fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 239661	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 237041	NM_000135.4(FANCA):c.2602-13CT[2]	FANCA, LOC130059837	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 233650	NM_000546.6(TP53):c.273G>A (p.Trp91Ter)	TP53 (W52* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 230971	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 230389	NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	NF1 (R2237* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 187084	NM_003001.5(SDHC):c.380A>G (p.His127Arg)	SDHC (H127R +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186005	NM_000314.8(PTEN):c.70G>C (p.Asp24His)	PTEN (D24H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 183814	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB (I127S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic/Likely pathogenic
Select item 183747	NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	SDHB (W200C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 182465	NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	FANCC (E163fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic OOncogenic
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia +5 more	GPathogenic
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 128075	NM_007194.4(CHEK2):c.444+1G>A	CHEK2	Single nucleotide variant (splice donor variant)	Inherited breast cancer and ovarian cancer +12 more	GPathogenic/Likely pathogenic
Select item 126840	NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	RB1 (R552*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Malignant tumor of urinary bladder +4 more	GPathogenic
Select item 126824	NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	RB1 (R320*)	Single nucleotide variant (nonsense)	Retinoblastoma +2 more	GPathogenic
Select item 126820	NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	RB1 (R255*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 126113	NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)	BRCA2 (Y2215*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 100814	NM_000546.6(TP53):c.587G>T (p.Arg196Leu)	TP53 (R157L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 91386	NM_000535.7(PMS2):c.989-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 91323	NM_000535.7(PMS2):c.1A>G (p.Met1Val)	PMS2 (M1V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90441	NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)	MLH1 (N306K +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 52261	NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)	BRCA2 (Q2354*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38169	NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 18083	NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	ALK (R1275Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 17662	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	BRCA1 (E23fs)	Microsatellite (frameshift variant +2 more)	BRCA1-related cancer predisposition	GPathogenic FDA Recognized database
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +16 more	GPathogenic/Likely pathogenic
Select item 13087	NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	RB1	Single nucleotide variant (missense variant)	Retinoblastoma +5 more	GPathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12045	NM_000136.3(FANCC):c.456+4A>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GPathogenic
Select item 9415	NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	CDKN2A (R24P)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +5 more	GPathogenic/Likely pathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly +6 more	GPathogenic
Select item 6067	NM_004260.4(RECQL4):c.1391-1G>A	RECQL4	Single nucleotide variant (splice acceptor variant)	Rothmund-Thomson syndrome type 2 +2 more	GPathogenic
Select item 3574	NM_016169.4(SUFU):c.71dup (p.Ala25fs)	LOC130004614, SUFU (A25fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 3019	NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	ATM, C11orf65	Deletion (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2225	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	LOC107303340, VHL (L188V +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database

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Items: 93