"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167589	NM_020975.6(RET):c.135A>G (p.Ala45=)	RET	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 36723	NM_020975.6(RET):c.166C>A (p.Leu56Met)	RET (L56M)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +8 more	GConflicting classifications of pathogenicity
Select item 95996	NM_020975.6(RET):c.337+9G>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +9 more	GBenign/Likely benign
Select item 95997	NM_020975.6(RET):c.375C>A (p.Val125=)	RET	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +8 more	GBenign/Likely benign
Select item 95995	NM_020975.6(RET):c.1296A>G (p.Ala432=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign
Select item 24934	NM_020975.6(RET):c.2071G>A (p.Gly691Ser)	RET (G437S +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +9 more	GConflicting classifications of pathogenicity
Select item 167590	NM_020975.6(RET):c.2307G>T (p.Leu769=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 2A +4 more	GBenign
Select item 413454	NM_020975.6(RET):c.2331C>T (p.Asn777=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +1 more	GLikely benign
Select item 24946	NM_020975.6(RET):c.2508C>T (p.Ser836=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia +8 more	GBenign/Likely benign
Select item 24964	NM_020975.6(RET):c.2712C>G (p.Ser904=)	RET	Single nucleotide variant (synonymous variant)	Pheochromocytoma +9 more	GBenign
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +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)	Pheochromocytoma +11 more	GConflicting classifications of pathogenicity
Select item 136115	NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)	RET (T1038A +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +10 more	GConflicting classifications of pathogenicity