ClinVar for MedGen (Select 66772) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523339	NM_001370259.2(MEN1):c.371_372del (p.Val124fs)	MEN1 (V124fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1 +6 more	GPathogenic
Select item 45116	NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	KRAS (Q61L)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GPathogenic OOncogenic
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 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 24931	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET (K412E +13 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GPathogenic/Likely pathogenic
Select item 24883	NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	RET (E257K +11 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 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 specified +7 more	GConflicting classifications of pathogenicity
Select item 13951	NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	RET (S891A +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +10 more	GPathogenic
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic/Likely pathogenic