ClinVar for PMC (Select 6742646) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2925345	NM_000551.4(VHL):c.455C>T (p.Thr152Ile)	LOC107303340, VHL (T152I)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2774527	NM_005359.6(SMAD4):c.1058A>C (p.Tyr353Ser)	SMAD4 (Y353S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1382194	NM_004577.4(PSPH):c.446C>T (p.Thr149Met)	PSPH (T149M)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 491706	NM_000249.4(MLH1):c.317G>A (p.Ser106Asn)	MLH1 (S106N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 212851	NM_000071.3(CBS):c.670C>T (p.Arg224Cys)	CBS (R224C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 68788	NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	SMAD4 (N13S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 24827	NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4 (G352R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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