"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710967	NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)	MUTYH (G382D +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1691509	NM_001048174.2(MUTYH):c.1489G>A (p.Gly497Ser)	MUTYH (G382S +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +6 more	GConflicting classifications of pathogenicity
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 141339	NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys)	MUTYH (R495C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 141925	NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)	MUTYH (P465A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 2577896	NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala)	MUTYH (G238A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 142860	NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)	MUTYH (P359T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 185982	NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)	MUTYH (S346W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 141135	NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)	MUTYH (R307Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142849	NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val)	MUTYH (A282V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 464738	NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile)	MUTYH (T256I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 187318	NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)	MUTYH (R184W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1801675	NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)	MUTYH (W103* +9 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GConflicting classifications of pathogenicity
Select item 185512	NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	MUTYH (R97Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 21