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

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 410430	NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)	MSH6 (S63C)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 628423	NM_000179.3(MSH6):c.261-6C>G	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127586	NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)	MSH6 (N112S)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 229725	NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)	MSH6 (I120T)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 455296	NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)	MSH6 (R128C)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 1691510	NM_000179.3(MSH6):c.439C>T (p.Leu147Phe)	MSH6 (L147F)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +1 more	GUncertain significance
Select item 486916	NM_000179.3(MSH6):c.503C>T (p.Ala168Val)	MSH6 (A168V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 216321	NM_000179.3(MSH6):c.643G>A (p.Val215Ile)	MSH6 (V215I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182611	NM_000179.3(MSH6):c.728G>A (p.Arg243His)	MSH6 (R243H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 140780	NM_000179.3(MSH6):c.749T>C (p.Val250Ala)	MSH6 (V250A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 89572	NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)	MSH6 (G159E +1 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 141122	NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)	MSH6 (R302T +7 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 229741	NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)	MSH6 (S314R +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 141751	NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)	MSH6 (T333I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182618	NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)	MSH6 (G354V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1710950	NM_000179.3(MSH6):c.1111G>C (p.Glu371Gln)	MSH6 (E196Q +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +1 more	GUncertain significance
Select item 449925	NM_000179.3(MSH6):c.1602C>G (p.Asn534Lys)	MSH6 (N534K +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +4 more	GUncertain significance
Select item 419037	NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)	MSH6 (L540del +2 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 620605	NM_000179.3(MSH6):c.1657A>C (p.Thr553Pro)	MSH6 (T553P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 410424	NM_000179.3(MSH6):c.1666T>C (p.Tyr556His)	MSH6 (Y556H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +2 more	GUncertain significance
Select item 134852	NM_000179.3(MSH6):c.1730G>A (p.Arg577His)	MSH6 (R577H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 224580	NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)	MSH6 (S616C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 455171	NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)	MSH6 (D667E +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 220238	NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)	MSH6 (T719I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 233180	NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)	MSH6 (C783S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 580724	NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)	MSH6 (I795M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 89279	NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)	MSH6 (V800L +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely benign
Select item 229858	NM_000179.3(MSH6):c.2588A>G (p.Glu863Gly)	MSH6 (E863G +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 41591	NM_000179.3(MSH6):c.2667G>T (p.Gln889His)	MSH6 (Q889H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 92576	NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)	MSH6 (R766Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89360	NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	MSH6 (P1087S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 220784	NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)	MSH6 (D1112N +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 234462	NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)	MSH6 (L1150F +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +4 more	GUncertain significance
Select item 89490	NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	MSH6 (R1321G +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity

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Items: 35