CN169374[trait identifier] AND "ITMI"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135349	NM_003820.4(TNFRSF14):c.50A>G (p.Lys17Arg)	TNFRSF14, TNFRSF14-AS1 (K17R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133394	NM_003820.4(TNFRSF14):c.304+545C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133395	NM_003820.4(TNFRSF14):c.304+606C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133396	NM_003820.4(TNFRSF14):c.304+624C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133397	NM_003820.4(TNFRSF14):c.304+642C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133398	NM_003820.4(TNFRSF14):c.305-654A>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133399	NM_003820.4(TNFRSF14):c.305-653T>C	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133400	NM_003820.4(TNFRSF14):c.305-476C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133401	NM_003820.4(TNFRSF14):c.305-462G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133402	NM_003820.4(TNFRSF14):c.305-401G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133403	NM_003820.4(TNFRSF14):c.305-397T>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133404	NM_003820.4(TNFRSF14):c.305-364C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133405	NM_003820.4(TNFRSF14):c.305-328C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133406	NM_003820.4(TNFRSF14):c.305-320C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133407	NM_003820.4(TNFRSF14):c.305-308C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133408	NM_003820.4(TNFRSF14):c.305-249C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133409	NM_003820.4(TNFRSF14):c.305-201G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133411	NM_003820.4(TNFRSF14):c.305-191C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133410	NM_003820.4(TNFRSF14):c.305-191C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133412	NM_003820.4(TNFRSF14):c.305-171G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133413	NM_003820.4(TNFRSF14):c.305-98G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133415	NM_003820.4(TNFRSF14):c.305-59_305-57delinsACT	TNFRSF14	Indel (intron variant)	not specified	Gnot provided
Select item 133414	NM_003820.4(TNFRSF14):c.305-57C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135350	NM_003820.4(TNFRSF14):c.348C>T (p.Asn116=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135353	NM_003820.4(TNFRSF14):c.349G>A (p.Ala117Thr)	TNFRSF14 (A117T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135351	NM_003820.4(TNFRSF14):c.405C>T (p.Cys135=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135352	NM_003820.4(TNFRSF14):c.408C>T (p.Ala136=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135354	NM_003820.4(TNFRSF14):c.521G>A (p.Gly174Glu)	TNFRSF14 (G174E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133416	NM_003820.4(TNFRSF14):c.552-165del	TNFRSF14	Deletion (intron variant)	not specified	Gnot provided
Select item 133417	NM_003820.4(TNFRSF14):c.552-140C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135355	NM_003820.4(TNFRSF14):c.721G>A (p.Val241Ile)	TNFRSF14 (V241I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135356	NM_003820.4(TNFRSF14):c.785C>T (p.Pro262Leu)	TNFRSF14 (P262L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135357	NM_003820.4(TNFRSF14):c.797C>T (p.Thr266Met)	TNFRSF14 (T266M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Paragangliomas 4 +7 more	GConflicting classifications of pathogenicity
Select item 135193	NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)	SDHB (R115Q)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 135192	NM_003000.3(SDHB):c.170A>G (p.His57Arg)	SDHB (H57R)	Single nucleotide variant (missense variant)	Paragangliomas 4 +7 more	GBenign/Likely benign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 133556	NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)	ARID1A (Q708P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 133547	NM_006015.6(ARID1A):c.3524C>T (p.Pro1175Leu)	ARID1A, LOC126805670 (P1175L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 133548	NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys)	ARID1A (R1323C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 133549	NM_006015.6(ARID1A):c.4304A>G (p.Tyr1435Cys)	ARID1A (Y1435C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 133550	NM_006015.6(ARID1A):c.4615G>T (p.Ala1539Ser)	ARID1A (A1539S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 126311	NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)	ARID1A (N1705S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133554	NM_006015.6(ARID1A):c.5248T>A (p.Phe1750Ile)	ARID1A (F1750I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133555	NM_006015.6(ARID1A):c.5318T>C (p.Leu1773Pro)	ARID1A (L1773P +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133551	NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)	ARID1A (E1779G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 133552	NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)	ARID1A (R1906Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 133553	NM_006015.6(ARID1A):c.5791G>C (p.Glu1931Gln)	ARID1A (E1931Q +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 14162	NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	MPL (K39N)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 134821	NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	MPL (P70L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic
Select item 134824	NM_005373.3(MPL):c.263G>A (p.Gly88Glu)	MPL (G88E)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 134825	NM_005373.3(MPL):c.340G>A (p.Val114Met)	MPL (V114M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 265249	NM_005373.3(MPL):c.378del (p.Phe126fs)	MPL (F126fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic
Select item 134826	NM_005373.3(MPL):c.530dup (p.Asn178fs)	MPL (N178fs)	Duplication (frameshift variant)	not specified	Gnot provided
Select item 134830	NM_005373.3(MPL):c.619G>A (p.Asp207Asn)	MPL (D207N)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 134828	NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	MPL (Q208K)	Single nucleotide variant (missense variant)	MPL-related disorder +5 more	GUncertain significance
Select item 134829	NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	MPL (Q219E)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 134827	NM_005373.3(MPL):c.690A>G (p.Glu230=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign
Select item 134833	NM_005373.3(MPL):c.733G>A (p.Gly245Arg)	MPL (G245R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134831	NM_005373.3(MPL):c.744_747dup (p.Asn250fs)	MPL (N250fs)	Duplication (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 134834	NM_005373.3(MPL):c.754T>C (p.Tyr252His)	MPL (Y252H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134832	NM_005373.3(MPL):c.793C>T (p.Leu265Phe)	MPL (L265F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134835	NM_005373.3(MPL):c.962G>A (p.Arg321Gln)	MPL (R321Q)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 134837	NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	MPL (K355E)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 134839	NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	MPL (V368L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 134838	NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)	MPL (T374A)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 134836	NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly)	MPL (T374G)	Indel (missense variant)	not specified	Gnot provided
Select item 135564	NM_005373.3(MPL):c.1565+5C>T	MPL	Single nucleotide variant (intron variant)	Thrombocythemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 134819	NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	MPL (Q541*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 134820	NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)	MPL (L582P)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 134867	NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)	MUTYH (P516L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 134864	NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)	MUTYH (R437W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Ovarian carcinoma +8 more	GPathogenic/Likely pathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Familial colorectal cancer +4 more	GPathogenic/Likely pathogenic
Select item 134863	NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)	MUTYH (G381W +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 134862	NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)	MUTYH (S346L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 134861	NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr)	MUTYH (P334T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 134859	NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	MUTYH (V329M +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +5 more	GConflicting classifications of pathogenicity
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134858	NM_001048174.2(MUTYH):c.778A>G (p.Thr260Ala)	MUTYH (T288A +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 134857	NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)	MUTYH (N279T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 41763	NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	MUTYH (G25D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41760	NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	MUTYH (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GBenign
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134547	NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln)	JAK1	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 134546	NM_002227.4(JAK1):c.2749A>G (p.Asn917Asp)	JAK1 (N917D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134544	NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser)	JAK1 (N833S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 134545	NM_002227.4(JAK1):c.2469C>T (p.Leu823=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134543	NM_002227.4(JAK1):c.2234C>T (p.Thr745Met)	JAK1 (T745M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134542	NM_002227.4(JAK1):c.1951G>A (p.Val651Met)	JAK1, LOC126805749 (V651M +1 more)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia +1 more	GConflicting classifications of pathogenicity

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