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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 630667	NM_000179.3(MSH6):c.-6G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 920311	NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)	MSH6 (C108R)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 142305	NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)	MSH6 (D217G +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 89178	NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	MSH6 (Y267fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 231340	NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)	MSH6 (Y469C +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 89200	NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)	MSH6 (Q522R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 234464	NM_000179.3(MSH6):c.1645del (p.Ser549fs)	MSH6 (S247fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 183739	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6 (E442fs +2 more)	Duplication (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 479965	NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp)	MSH6 (C779W +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 410471	NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)	MSH6 (Y850* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 234462	NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)	MSH6 (L1150F +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 89458	NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	MSH6 (Y1256* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 410530	NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)	MSH6	Duplication (inframe_insertion)	not specified +4 more	GUncertain significance
Select item 89488	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6 (A1190fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 483854	NM_000179.3(MSH6):c.3989T>G (p.Leu1330Arg)	MSH6 (L1330R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity