ClinVar (all) for Orgtrack (Select 165021) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628069	NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	MPZL2 (R94W)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 2413194	NM_012087.4(GTF3C5):c.506C>T (p.Pro169Leu)	GTF3C5 (P169L)	Single nucleotide variant (missense variant +1 more)	Multisystem developmental disorder	GUncertain significance
Select item 2413193	NM_012087.4(GTF3C5):c.463G>T (p.Glu155Ter)	GTF3C5 (E155*)	Single nucleotide variant (nonsense +1 more)	Multisystem developmental disorder	GUncertain significance
Select item 1710089	t(6;9)(q22.1;q34.3)		Translocation	Angiosarcoma	GLikely pathogenic
Select item 1328513	NM_000546.5:c.-28_672dup	TP53	Duplication	Li-Fraumeni syndrome	GPathogenic
Select item 998076	NM_002049.4(GATA1):c.219A>G (p.Pro73=)	GATA1	Single nucleotide variant (synonymous variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998075	NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	MFSD11, SRSF2 (P95R)	Single nucleotide variant (missense variant +2 more)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998074	NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	JAK1 (L782F +1 more)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998073	NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)	GATA1 (A58fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998072	NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)	GATA1 (S51fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998071	NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)	SUZ12 (L362fs +1 more)	Microsatellite (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome +1 more	GPathogenic/Likely pathogenic
Select item 998070	NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)	CTCF (D219fs +1 more)	Indel (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998069	NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)	GATA1	Insertion (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998068	NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)	CTCF (Y174fs +1 more)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998067	NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	RAD21 (Y3*)	Single nucleotide variant (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998066	NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)	GATA1 (D65fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998065	NM_002049.4(GATA1):c.4dup (p.Glu2fs)	GATA1 (E2fs)	Duplication (frameshift variant +1 more)	Transient myeloproliferative syndrome	GPathogenic
Select item 998064	NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)	GATA1 (S51fs)	Indel (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 998063	NM_002049.4(GATA1):c.219del (p.Val74fs)	GATA1 (V74fs)	Deletion (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 998062	NM_002049.4(GATA1):c.49_50del (p.Gln17fs)	GATA1 (Q17fs)	Deletion (frameshift variant)	Transient myeloproliferative syndrome	GPathogenic
Select item 998061	NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	SETD2 (R397* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic
Select item 998060	NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	SETD2 (W1262* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic
Select item 998059	t(11;17)(q23;q12-q21)	KMT2A, MLLT6	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998058	t(16;16)(p13.3;q24.3)	CBFA2T3	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998057	inv(16)(p13.3q24.3)	CBFA2T3	Inversion	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998056	t(11;12)(p15;p13)	KDM5A, NUP98	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 817074	NM_000546.6(TP53):c.331_365dup (p.Thr123fs)	TP53 (T123fs +1 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 694374	NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs)	MYH11, NDE1 (Q1934fs +1 more)	Insertion (frameshift variant +1 more)	Visceral myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 635169	NM_001957.4(EDNRA):c.1142A>C (p.Gln381Pro)	EDNRA (Q381P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 625270	NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	LOC107303340, VHL	Single nucleotide variant (stop lost +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625269	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	LOC107303340, VHL	Single nucleotide variant (stop lost +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625268	NM_000551.4(VHL):c.585_606dup (p.Gln203fs)	LOC107303340, VHL (Q162fs +1 more)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625267	NM_000551.4(VHL):c.565del (p.Glu189fs)	LOC107303340, VHL (E189fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625266	NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	LOC107303340, VHL (L188P +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 625265	NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	LOC107303340, VHL (L188Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625264	NM_000551.4(VHL):c.558_560del (p.Glu186del)	LOC107303340, VHL (E186del +1 more)	Deletion (inframe_deletion +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 625263	NM_000551.4(VHL):c.547del (p.Ser183fs)	LOC107303340, VHL (S183fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625262	NM_000551.4(VHL):c.539T>G (p.Ile180Ser)	LOC107303340, VHL (I180S +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 625261	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	LOC107303340, VHL (L178R +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 625260	NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	LOC107303340, VHL (L178Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625259	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	LOC107303340, VHL (L137fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 625258	NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	LOC107303340, VHL (R177* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625257	NM_000551.4(VHL):c.526del (p.Arg176fs)	LOC107303340, VHL (R135fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625256	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	LOC107303340, VHL (V170D +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625255	NM_000551.4(VHL):c.497T>G (p.Val166Gly)	LOC107303340, VHL (V166G +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625254	NM_000551.4(VHL):c.497T>A (p.Val166Asp)	LOC107303340, VHL (V166D +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625253	NM_000551.4(VHL):c.490C>G (p.Gln164Glu)	LOC107303340, VHL (Q164E +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625252	NM_000551.4(VHL):c.477dup (p.Glu160fs)	LOC107303340, VHL (E160fs +1 more)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625251	NM_000551.4(VHL):c.462del (p.Val155fs)	LOC107303340, VHL (V155fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 625250	NM_000551.4(VHL):c.445dup (p.Ala149fs)	LOC107303340, VHL (A149fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625249	NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	LOC107303340, VHL (Q145*)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625248	NM_000551.4(VHL):c.433_439del (p.Gln145fs)	LOC107303340, VHL (Q145fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic/Likely pathogenic
Select item 625247	NM_000551.4(VHL):c.429C>G (p.Asp143Glu)	LOC107303340, VHL (D143E)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625246	NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	LOC107303340, VHL	Indel (inframe_indel +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625245	NM_000551.4(VHL):c.413del (p.Pro138fs)	LOC107303340, VHL (P138fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625244	NM_000551.4(VHL):c.397del (p.Thr133fs)	LOC107303340, VHL (T133fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 625243	NM_000551.4(VHL):c.393_394dup (p.Gln132fs)	LOC107303340, VHL (Q132fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625242	NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	LOC107303340, VHL (L129P)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 625241	NM_000551.4(VHL):c.381del (p.Leu128fs)	LOC107303340, VHL (L128fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625240	NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 625239	NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	LOC107303340, VHL (W117*)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625238	NM_000551.4(VHL):c.346dup (p.Leu116fs)	LOC107303340, VHL (L116fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625237	NM_000551.4(VHL):c.340+8C>T	VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 625236	NM_000551.4(VHL):c.304_305dup (p.Pro103fs)	VHL (P103fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 625235	NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	VHL (Y98*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 625234	NM_000551.4(VHL):c.292_295del (p.Tyr98fs)	VHL (Y98fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625233	NM_000551.4(VHL):c.287A>C (p.Gln96Pro)	VHL (Q96P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 625232	NM_000551.4(VHL):c.278G>T (p.Gly93Val)	VHL (G93V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625231	NM_000551.4(VHL):c.271T>G (p.Phe91Val)	VHL (F91V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely benign
Select item 625230	NM_000551.4(VHL):c.258dup (p.Val87fs)	VHL (V87fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625229	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL (S80I)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 625228	NM_000551.4(VHL):c.239_261del (p.Ser80fs)	VHL (S80fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625227	NM_000551.4(VHL):c.233del (p.Asn78fs)	VHL (N78fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625226	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL (N78D)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625225	NM_000551.4(VHL):c.232A>C (p.Asn78His)	VHL (N78H)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625224	NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)	VHL (F76Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 625223	NM_000551.4(VHL):c.221T>A (p.Val74Asp)	VHL (V74D)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 625222	NM_000551.4(VHL):c.203C>T (p.Ser68Leu)	VHL (S68L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625221	NM_000551.4(VHL):c.201C>A (p.Asn67Lys)	VHL (N67K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 625220	NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	VHL (L63Q)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 584477	NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	VHL (E94*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 560193	NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe)	MECP2 (L301F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560191	NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs)	MECP2 (Y2fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 560190	NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)	MECP2 (S70P +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 560189	NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys)	MECP2 (S80C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 560188	NM_001110792.2(MECP2):c.*9G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 560187	NM_004992.3(MECP2):c.[1155_1200del;987_988del]	MECP2 (L293fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 560186	NM_130838.2(UBE3A):c.[255_259del;269del]	SNHG14, UBE3A (M90fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 526677	NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	LOC107303340, VHL (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 496067	NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	LOC107303340, VHL (C162R +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 496065	NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	LOC107303340, VHL (F136C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 496064	NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	LOC107303340, VHL (F136S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 496061	NM_000551.4(VHL):c.388G>T (p.Val130Phe)	LOC107303340, VHL (V130F)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 496054	NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	VHL (G93D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 495837	NM_000368.5(TSC1):c.2626-5_2626-4dup	TSC1	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 480846	NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)	LOC107303340, VHL	Duplication (inframe_insertion +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 466308	NM_138425.4(C12orf57):c.229+25_229+43del	C12orf57	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 465134	NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)	GATA1 (S30*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia +2 more	GPathogenic
Select item 456577	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic
Select item 438621	NM_004004.6(GJB2):c.585G>A (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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