ClinVar for MedGen (Select 138213) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627428	t(14;18)(q32.33;q21.33)		Translocation	Hematologic neoplasm	GPathogenic
Select item 627427	ins(8;14)(q24.21;q32.33)		Insertion	Hematologic neoplasm	GPathogenic
Select item 376703	NM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe)	CSF1R (L301F +1 more)	Single nucleotide variant (missense variant +1 more)	Hematologic neoplasm	GLikely pathogenic
Select item 376273	NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser)	CSF1R (L301S +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376272	NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His)	CSF1R (Y969H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376271	NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys)	CSF1R (Y969C +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376270	NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe)	CSF1R (Y969F +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376166	NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)	CSF1R (Y571D +1 more)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative disorder +1 more	GLikely pathogenic
Select item 162222	NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)	ETV6	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 162221	NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)	ETV6, LOC126861452	Single nucleotide variant (missense variant)	ETV6-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 162220	NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)	ETV6	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 29822	NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)	CBL (C384R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 14164	NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	MPL (W515L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 13866	NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)	KIT (K642E +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GPathogenic OLikely oncogenic
Select item 13863	NM_000222.3(KIT):c.2446G>C (p.Asp816His)	KIT (D816H +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13860	NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)	KIT (D816Y +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GPathogenic/Likely pathogenic
Select item 13852	NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	KIT (D816V +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 13811	NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	CBL (Y371H)	Single nucleotide variant (missense variant)	CBL-related disorder +4 more	GPathogenic