"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 185339	NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)	PMS2 (A725V +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GUncertain significance
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 127764	NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)	PMS2	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480870	NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp)	PMS2 (G512D +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 234914	NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)	PMS2 (S477Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 135937	NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)	PMS2 (A474S +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 185006	NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)	PMS2 (T458P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 142561	NM_000535.7(PMS2):c.1243G>A (p.Val415Met)	PMS2 (V415M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142875	NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)	PMS2 (P404R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 127751	NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	PMS2 (N335S +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer +7 more	GConflicting classifications of pathogenicity
Select item 91383	NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)	PMS2 (Q317* +5 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 142959	NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	PMS2 (M312I +5 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 525719	NM_000535.7(PMS2):c.903+1G>C	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 183716	NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)	PMS2 (Y255* +4 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 93236	NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)	PMS2 (S238R +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 187514	NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)	PMS2 (R199C +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 234652	NM_000535.7(PMS2):c.353+1G>A	PMS2	Single nucleotide variant (intron variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 185939	NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)	PMS2 (I66T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic

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Items: 21