"GeneKor MSA"[submitter] AND "RET"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584566	NM_020975.6(RET):c.7A>G (p.Lys3Glu)	LOC106736614, RET (K3E)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 405538	NM_020975.6(RET):c.134C>T (p.Ala45Val)	RET (A45V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 584562	NM_020975.6(RET):c.182A>C (p.Glu61Ala)	RET (E61A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 584565	NM_020975.6(RET):c.765G>T (p.Met255Ile)	RET (M255I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 41845	NM_020975.6(RET):c.785T>C (p.Val262Ala)	RET (V262A +3 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +9 more	GConflicting classifications of pathogenicity
Select item 486314	NM_020975.6(RET):c.1102C>T (p.Arg368Cys)	RET (R368C +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 584561	NM_020975.6(RET):c.1487C>T (p.Ala496Val)	RET (A496V +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 24920	NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	RET (E378K +13 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 24928	NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	RET (S395L +13 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +8 more	GConflicting classifications of pathogenicity
Select item 36727	NM_020975.6(RET):c.2080C>T (p.Arg694Trp)	RET (R694W +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +4 more	GUncertain significance
Select item 580338	NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	RET (K710R +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 584563	NM_020975.6(RET):c.2162G>A (p.Arg721Gln)	RET (R721Q +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GUncertain significance
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Ovarian cancer +12 more	GPathogenic/Likely pathogenic
Select item 543745	NM_020975.6(RET):c.2657G>A (p.Arg886Gln)	RET (R886Q +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 584564	NM_020975.6(RET):c.3079C>G (p.Leu1027Val)	RET (L1027V +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance