ClinVar for MedGen (Select 1648293) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327505	NM_004985.5(KRAS):c.445A>T (p.Arg149Ter)	KRAS (R149*)	Single nucleotide variant (nonsense)	Thyroid cancer, nonmedullary, 1	GLikely pathogenic
Select item 1052297	NM_000546.6(TP53):c.1118del (p.Lys373fs)	TP53 (K214fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 946956	NM_021930.6(RINT1):c.1021C>G (p.Leu341Val)	RINT1 (L33V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930341	NM_001079668.3(NKX2-1):c.463+4A>G	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	Thyroid cancer, nonmedullary, 1	GUncertain significance
Select item 653869	NM_021930.6(RINT1):c.1107+1G>T	RINT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 487553	NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)	NKX2-1, SFTA3 (A339V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 225430	NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter)	PCM1 (Q979* +3 more)	Single nucleotide variant (nonsense +1 more)	Thyroid cancer, nonmedullary, 1	GUncertain significance

ClinVar