C4048306[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36723	NM_020975.6(RET):c.166C>A (p.Leu56Met)	RET (L56M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 161360	NM_020975.6(RET):c.539G>A (p.Arg180Gln)	RET (R180Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 41845	NM_020975.6(RET):c.785T>C (p.Val262Ala)	RET (V262A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 24881	NM_020975.6(RET):c.961G>A (p.Gly321Arg)	RET (G67R +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 135188	NM_020975.6(RET):c.1424G>A (p.Arg475Gln)	RET (R475Q +8 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GUncertain significance
Select item 24883	NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	RET (E257K +11 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 13949	NM_020975.6(RET):c.1942G>A (p.Val648Ile)	RET (V648I +14 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +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)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 24931	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET (K412E +13 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GPathogenic/Likely pathogenic
Select item 161358	NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	RET (R694Q +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +9 more	GConflicting classifications of pathogenicity
Select item 13936	NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	RET (Y791F +17 more)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
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 24943	NM_020975.6(RET):c.2452G>A (p.Glu818Lys)	RET (E564K +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 24947	NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	RET (P587L +16 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 24960	NM_020975.6(RET):c.2656C>T (p.Arg886Trp)	RET (R632W +16 more)	Single nucleotide variant (missense variant)	Renal hypoplasia/aplasia +3 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)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 161359	NM_020975.6(RET):c.3191T>C (p.Met1064Thr)	RET (M1064T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance