"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 573559	NM_001128425.2(MUTYH):c.36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 230475	NM_001128425.2(MUTYH):c.36+5G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 246019	NM_001128425.2(MUTYH):c.36+4C>G	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 234074	NM_001128425.2(MUTYH):c.36+3A>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 422159	NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	MUTYH, TOE1 (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 619704	NM_001128425.2(MUTYH):c.-2C>G	MUTYH, TOE1 (A2P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2685800	GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	HPDL, MUTYH +3 more	Copy number gain	not provided	GUncertain significance
Select item 814071	GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	MUTYH, PRDX1 +8 more	Copy number loss	not provided	GUncertain significance