C3277671[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297397	NM_005373.3(MPL):c.95C>T (p.Ala32Val)	MPL (A32V)	Single nucleotide variant (missense variant)	MPL-related condition +2 more	GUncertain significance
Select item 14162	NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	MPL (K39N)	Single nucleotide variant (missense variant)	Essential thrombocythemia +4 more	GBenign/Likely benign
Select item 297398	NM_005373.3(MPL):c.196C>T (p.Leu66=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 211522	NM_005373.3(MPL):c.210G>A (p.Pro70=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 297399	NM_005373.3(MPL):c.543T>C (p.Gly181=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GBenign/Likely benign
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 297400	NM_005373.3(MPL):c.690+11C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 297401	NM_005373.3(MPL):c.854-3T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 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 297402	NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	MPL (E335K)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 297403	NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)	MPL (R351C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GUncertain significance
Select item 134839	NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	MPL (V368L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 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 297404	NM_005373.3(MPL):c.1238C>T (p.Pro413Leu)	MPL (P413L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 297405	NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)	MPL (A444D)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GUncertain significance
Select item 297406	NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)	MPL (G446E)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GUncertain significance
Select item 297407	NM_005373.3(MPL):c.1467C>T (p.Thr489=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 135564	NM_005373.3(MPL):c.1565+5C>T	MPL	Single nucleotide variant (intron variant)	MPL-related condition +5 more	GConflicting classifications of pathogenicity
Select item 297408	NM_005373.3(MPL):c.1570C>T (p.Leu524=)	MPL	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 297409	NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	MPL (R537W)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 259757	NM_005373.3(MPL):c.1653+3G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GBenign/Likely benign
Select item 297410	NM_005373.3(MPL):c.1654-10T>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 297411	NM_005373.3(MPL):c.1666G>T (p.Val556Phe)	MPL (V556F)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 259758	NM_005373.3(MPL):c.1794C>T (p.Cys598=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 297412	NM_005373.3(MPL):c.*86C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297413	NM_005373.3(MPL):c.*94C>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297414	NM_005373.3(MPL):c.*364C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297415	NM_005373.3(MPL):c.*400C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 297416	NM_005373.3(MPL):c.*573G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297417	NM_005373.3(MPL):c.*657C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297418	NM_005373.3(MPL):c.*662C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297419	NM_005373.3(MPL):c.701_705dup	MPL	Duplication (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297420	NM_005373.3(MPL):c.*705del	MPL	Deletion (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297421	NM_005373.3(MPL):c.*709C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297422	NM_005373.3(MPL):c.*748C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297423	NM_005373.3(MPL):c.*871G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297424	NM_005373.3(MPL):c.*882C>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297425	NM_005373.3(MPL):c.*924C>G	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297426	NM_005373.3(MPL):c.*971G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 297427	NM_005373.3(MPL):c.*1054G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GBenign/Likely benign
Select item 297428	NM_005373.3(MPL):c.*1112G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297429	NM_005373.3(MPL):c.*1116G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297430	NM_005373.3(MPL):c.*1126A>G	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GLikely benign
Select item 297431	NM_005373.3(MPL):c.*1180G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GBenign/Likely benign
Select item 297432	NM_005373.3(MPL):c.*1216A>G	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297433	NM_005373.3(MPL):c.*1351T>C	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 297434	NM_005373.3(MPL):c.*1486T>C	MPL	Single nucleotide variant (3 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 297436	NM_005373.3(MPL):c.*1506G>C	MPL	Single nucleotide variant (3 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 297435	NM_005373.3(MPL):c.*1506G>A	MPL	Single nucleotide variant (3 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 297437	NM_005373.3(MPL):c.*1603A>C	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GBenign/Likely benign
Select item 297438	NM_005373.3(MPL):c.*1674A>T	MPL	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 344365	NM_000460.4(THPO):c.*500A>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344366	NM_000460.4(THPO):c.*482A>T	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GBenign
Select item 900855	NM_000460.4(THPO):c.*480G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344367	NM_000460.4(THPO):c.*404G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900856	NM_000460.4(THPO):c.*366G>C	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900857	NM_000460.4(THPO):c.*191T>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900858	NM_000460.4(THPO):c.*108C>T	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344368	NM_000460.4(THPO):c.*59G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 344369	NM_000460.4(THPO):c.*35G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 902534	NM_000460.4(THPO):c.*27A>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 286872	NM_000460.4(THPO):c.*18G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 256211	NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)	THPO (T344A +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1 +2 more	GBenign/Likely benign
Select item 902535	NM_000460.4(THPO):c.963C>T (p.His321=)	THPO (P316S +1 more)	Single nucleotide variant (synonymous variant +1 more)	THPO-related condition +1 more	GConflicting classifications of pathogenicity
Select item 344370	NM_000460.4(THPO):c.889A>G (p.Thr297Ala)	THPO (T297A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902536	NM_000460.4(THPO):c.852G>A (p.Leu284=)	THPO (A246T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Thrombocythemia 1 +1 more	GBenign/Likely benign
Select item 903383	NM_000460.4(THPO):c.808G>A (p.Gly270Arg)	THPO (R231K +4 more)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 903384	NM_000460.4(THPO):c.796C>T (p.Arg266Cys)	THPO (R266C +4 more)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 632414	NM_000460.4(THPO):c.791_794del (p.Pro264fs)	THPO (P404fs +4 more)	Deletion (frameshift variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 903385	NM_000460.4(THPO):c.740T>C (p.Leu247Pro)	THPO (L243P +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 344371	NM_000460.4(THPO):c.671G>A (p.Gly224Glu)	THPO (G224E +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 764293	NM_000460.4(THPO):c.579C>T (p.Asn193=)	THPO (R188*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344372	NM_000460.4(THPO):c.517G>A (p.Val173Ile)	THPO (V173I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 197671	NM_000460.4(THPO):c.356G>A (p.Arg119His)	THPO (R119H +1 more)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 903386	NM_000460.4(THPO):c.310C>A (p.Pro104Thr)	THPO (P104T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344373	NM_000460.4(THPO):c.303A>G (p.Gln101=)	THPO	Single nucleotide variant (synonymous variant)	Thrombocythemia 1	GUncertain significance
Select item 256212	NM_000460.4(THPO):c.229-17_229-14dup	THPO	Duplication (intron variant)	Thrombocythemia 1 +2 more	GBenign/Likely benign
Select item 497712	NM_000460.4(THPO):c.183G>T (p.Leu61=)	THPO	Single nucleotide variant (synonymous variant)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 728574	NM_000460.4(THPO):c.24C>T (p.Leu8=)	THPO	Single nucleotide variant (synonymous variant)	Thrombocythemia 1 +1 more	GBenign/Likely benign
Select item 899769	NM_000460.4(THPO):c.14-11C>T	THPO	Single nucleotide variant (intron variant)	Thrombocythemia 1	GUncertain significance
Select item 344374	NM_000460.4(THPO):c.-56G>A	THPO (G122E)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 344375	NM_000460.4(THPO):c.-123C>T	THPO (R100C)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 344376	NM_000460.4(THPO):c.-136T>C	THPO	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombocythemia 1	GBenign
Select item 344377	NM_000460.4(THPO):c.-215T>A	THPO (V69D)	Single nucleotide variant (5 prime UTR variant +2 more)	Thrombocythemia 1	GUncertain significance

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Items: 84