"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "PMS - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142260	NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)	PMS2 (L856R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 142688	NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	PMS2 (I853M +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 142421	NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	PMS2 (L786M +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91331	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	PMS2 (L420fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 360541	NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)	PMS2 (A650V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 186044	NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	PMS2 (A572T +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 142561	NM_000535.7(PMS2):c.1243G>A (p.Val415Met)	PMS2 (V415M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 127756	NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)	PMS2 (K278R +7 more)	Indel (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 135947	NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)	PMS2 (R295W +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 127798	NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	PMS2 (D286G +4 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 237924	NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)	PMS2 (P221L +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186883	NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)	PMS2 (T203S +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 237913	NM_000535.7(PMS2):c.353+6A>G	PMS2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 1177508	GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3	PMS2	Copy number gain	Lynch syndrome 4 +1 more	Gnot provided