"GeneKor MSA"[submitter] AND "MSH6"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418608	NM_000179.3(MSH6):c.95G>A (p.Gly32Asp)	MSH6 (G32D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 89552	NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	MSH6 (E221D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 584469	NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs)	MSH6 (P163fs +1 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 186227	NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)	MSH6 (R298Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 565750	NM_000179.3(MSH6):c.1025C>G (p.Ala342Gly)	MSH6 (A342G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 183789	NM_000179.3(MSH6):c.1068T>C (p.Gly356=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 419037	NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)	MSH6 (L540del +2 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 141265	NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)	MSH6 (T605S +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 219795	NM_000179.3(MSH6):c.2137del (p.Asp713fs)	MSH6 (D411fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
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 584535	NM_000179.3(MSH6):c.2622C>T (p.Ile874=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 584468	NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)	MSH6 (Q889* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 89314	NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	MSH6 (R922* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 584536	NM_000179.3(MSH6):c.2806G>C (p.Asp936His)	MSH6 (D936H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 233859	NM_000179.3(MSH6):c.2975A>G (p.Glu992Gly)	MSH6 (E992G +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 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 186280	NM_000179.3(MSH6):c.3349T>C (p.Cys1117Arg)	MSH6 (C1117R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 92578	NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)	MSH6 (R870fs +2 more)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 127591	NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)	MSH6 (V1253E +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 584537	NM_000179.3(MSH6):c.3832C>G (p.Pro1278Ala)	MSH6 (P1278A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 184807	NM_000179.3(MSH6):c.4002-4T>C	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity

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Items: 23