ClinVar for OMIM (Select 164761) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16928	NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)	CDK4 (R24C)	Single nucleotide variant (missense variant)	Familial melanoma +3 more	GPathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +3 more	GPathogenic STier I - Strong
Select item 8760	NM_000514.4(GDNF):c.460A>T (p.Thr154Ser)	GDNF (T154S +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3	Grisk factor
Select item 8758	NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	GDNF (R93W +4 more)	Single nucleotide variant (missense variant)	GDNF-related condition +3 more	GLikely benign
Select item 6437	NM_000369.5(TSHR):c.1897G>C (p.Asp633His)	TSHR (D633H)	Single nucleotide variant (missense variant)	THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	GPathogenic
Select item 832	NM_000038.6(APC):c.2093T>A (p.Leu698Ter)	APC (L698* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1	GPathogenic
Select item 831	NM_000038.6(APC):c.937_938del (p.Glu313fs)	APC (E313fs +6 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1 +3 more	GPathogenic

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