C1275808[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 535774	NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)	PHOX2B (P284R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 452239	NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	Congenital central hypoventilation +3 more	GPathogenic
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +6 more	GBenign/Likely benign
Select item 486030	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	PHOX2B, PHOX2B-AS1 (S76T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 573409	NM_020975.6(RET):c.433G>A (p.Val145Ile)	RET (V145I)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 405529	NM_020975.6(RET):c.1151C>G (p.Pro384Arg)	RET (P384R +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 405534	NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)	RET (Y483C +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 13905	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET (C618G +12 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 24929	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 187701	NM_020975.6(RET):c.2225C>T (p.Thr742Met)	RET (T742M +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +8 more	GConflicting classifications of pathogenicity
Select item 24939	NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	RET (Y537N +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic/Likely pathogenic
Select item 194426	NM_020975.6(RET):c.2454G>A (p.Glu818=)	RET	Single nucleotide variant (synonymous variant)	Congenital central hypoventilation +8 more	GConflicting classifications of pathogenicity
Select item 405527	NM_020975.6(RET):c.2527G>A (p.Glu843Lys)	RET (E843K +17 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 41842	NM_020975.6(RET):c.2611G>A (p.Val871Ile)	RET (V871I +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 477359	NM_020975.6(RET):c.2945G>A (p.Arg982His)	RET (R982H +17 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity