"PreventionGenetics, part of Exact Sciences"[submitter] AND "RUNX1-AS1 - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339876	NM_001754.5(RUNX1):c.613+8C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 561253	NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	RUNX1, RUNX1-AS1 (R204Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 561252	NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	RUNX1, RUNX1-AS1 (R204* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 14464	NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)	RUNX1, RUNX1-AS1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 376018	NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)	RUNX1-AS1, RUNX1 (R201* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 561251	NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala)	RUNX1, RUNX1-AS1 (D198A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561250	NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn)	RUNX1, RUNX1-AS1 (K194N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561248	NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)	RUNX1, RUNX1-AS1 (Y189* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 561247	NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro)	RUNX1, RUNX1-AS1 (Q185P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 463997	NM_001754.5(RUNX1):c.552G>T (p.Pro184=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 561246	NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro)	RUNX1, RUNX1-AS1 (T178P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 2633656	NM_001754.5(RUNX1):c.509G>A (p.Gly170Glu)	RUNX1, RUNX1-AS1 (G143E +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder	GUncertain significance
Select item 3061340	NM_001754.5(RUNX1):c.509-1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	RUNX1-related disorder	GLikely pathogenic
Select item 561245	NM_001754.5(RUNX1):c.508+18A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 561241	NM_001754.5(RUNX1):c.494_508+5dup	RUNX1-AS1, RUNX1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 561240	NM_001754.5(RUNX1):c.457_508+5dup	RUNX1, RUNX1-AS1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 561244	NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs)	RUNX1, RUNX1-AS1 (G143fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561243	NM_001754.5(RUNX1):c.502G>A (p.Gly168Arg)	RUNX1, RUNX1-AS1 (G168R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 561242	NM_001754.5(RUNX1):c.501del (p.Ser167fs)	RUNX1, RUNX1-AS1 (S167fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2637205	NM_001754.5(RUNX1):c.482T>A (p.Leu161His)	RUNX1, RUNX1-AS1 (L134H +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder	GUncertain significance
Select item 339877	NM_001754.5(RUNX1):c.444C>T (p.Thr148=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database
Select item 561239	NM_001754.5(RUNX1):c.437A>T (p.Asn146Ile)	RUNX1, RUNX1-AS1 (N146I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561238	NM_001754.5(RUNX1):c.424dup (p.Ala142fs)	RUNX1, RUNX1-AS1 (A142fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2628467	NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)	RUNX1, RUNX1-AS1 (S114P +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +1 more	GUncertain significance
Select item 561237	NM_001754.4(RUNX1):c.356_358delTGG	RUNX1, RUNX1-AS1	Microsatellite	not provided	GUncertain significance
Select item 14463	NM_001754.4(RUNX1):c.352-1G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database

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Items: 26