ClinVar for MedGen (Select 934756) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584809	NM_198291.3(SRC):c.919C>T (p.Pro307Ser)	SRC (P307S)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GUncertain significance
Select item 2572134	NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)	SRC (Q529E)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GUncertain significance
Select item 225689	NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)	SRC (E527K)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GLikely pathogenic

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