ClinVar for MedGen (Select 232365) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705900	NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)	NOTCH1 (G766S)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705899	NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)	ITPKB (S408A)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705898	NM_002221.4(ITPKB):c.518G>A (p.Arg173His)	ITPKB (R173H)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705897	NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)	ITPKB (P552Q)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705896	NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])	ITPKB, LOC129932672	Microsatellite (inframe_deletion)	Myeloproliferative neoplasm, unclassifiable	GLikely pathogenic
Select item 1705895	NM_003200.5(TCF3):c.632C>A (p.Pro211His)	TCF3 (P211H)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable	GUncertain significance
Select item 1705894	NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)	TCF3 (L434V +1 more)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable	GUncertain significance
Select item 1705893	NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)	TCF3 (G254C)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GUncertain significance
Select item 1705892	NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)	ITPKB, LOC129932672 (G74S)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GBenign/Likely benign
Select item 1705891	NM_000314.4(PTEN):c.-380_-378GGC[5]	PTEN (R52del)	Deletion (inframe_deletion +1 more)	Myeloproliferative neoplasm, unclassifiable	GLikely pathogenic
Select item 1705890	NM_000314.8(PTEN):c.-326=	PTEN (S65C)	Variation (no sequence alteration +2 more)	Myeloproliferative neoplasm, unclassifiable	GPathogenic
Select item 1705889	NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)	ITPKB (A322T)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1670612	NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu)	TCF3 (D473E +1 more)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1243966	NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)	LOC130003020, NOTCH1 (A18T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1167884	NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser)	TCF3 (G430S +1 more)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1165836	NM_003200.5(TCF3):c.1475C>T (p.Ala492Val)	TCF3 (A491V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810888	NM_000314.8(PTEN):c.-511G>A	PTEN (G4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 404453	NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)	NF1 (R1132H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 135024	NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr)	PDGFRA (S56T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 134934	NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)	NOTCH1 (P1377S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 133374	NM_006206.6(PDGFRA):c.2323+1120C>T	LOC126807054, PDGFRA (T782M)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative neoplasm, unclassifiable +2 more	GConflicting classifications of pathogenicity
Select item 41801	NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)	PDGFRA (L221F +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GBenign/Likely benign
Select item 41794	NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro)	PDGFRA (S478P +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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Items: 23