C1833921[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37077	NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	NTRK1 (H598Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 12308	NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	NTRK1 (G607V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 13932	NM_020975.6(RET):c.938G>A (p.Arg313Gln)	RET (R313Q +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 13941	NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)	RET	Duplication (inframe_indel +1 more)	Familial medullary thyroid carcinoma	GPathogenic
Select item 13950	NM_020975.6(RET):c.1597G>T (p.Gly533Cys)	RET (G533C +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 13944	NM_020975.6(RET):c.1825T>C (p.Cys609Arg)	RET (C609R +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 13933	NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	RET (C609Y +12 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 13929	NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	RET (C618R +12 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 13905	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET (C618G +12 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +8 more	GPathogenic
Select item 13914	NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	RET (C618S +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 13943	NM_020975.6(RET):c.1859G>C (p.Cys620Ser)	RET (C620S +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 13908	NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	RET (C634G +14 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 13911	NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	RET (C634F +14 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 13931	NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	RET (E768D +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 13935	NM_020975.6(RET):c.2370G>C (p.Leu790Phe)	RET (L790F +17 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13936	NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	RET (Y791F +17 more)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 13946	NM_020975.6(RET):c.2410G>T (p.Val804Leu)	RET (V804L +17 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13951	NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	RET (S891A +17 more)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 24968	NM_020975.6(RET):c.2735G>C (p.Arg912Pro)	RET (R912P +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +17 more	GPathogenic/Likely pathogenic
Select item 13938	NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	RET (R982C +17 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +11 more	GConflicting classifications of pathogenicity
Select item 13948	NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	RET (P1039L +17 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity

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Items: 22