C5399763[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 90512	NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	MSH2 (P349A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 41645	NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	MSH2 (N583S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 89473	NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)	MSH6 (R128L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 89289	NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	MSH6 (K854M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 89360	NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	MSH6 (P1087S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 89369	NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)	MSH6 (T1100M +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 89605	NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	MLH1 (N338S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer +9 more	GConflicting classifications of pathogenicity
Select item 89906	NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)	MLH1 (K618T +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41637	NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	MLH1 (I655V +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 90100	NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)	MLH1 (K751R +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91320	NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)	PMS2 (Q643* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91382	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	PMS2 (R315* +5 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
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