"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89164	NM_000179.3(MSH6):c.-8C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 185732	NM_000179.3(MSH6):c.81C>G (p.Ala27=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36584	NM_000179.3(MSH6):c.186C>A (p.Arg62=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 36586	NM_000179.3(MSH6):c.260+10T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 89295	NM_000179.3(MSH6):c.260+22C>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89301	NM_000179.3(MSH6):c.261-36A>G	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 491912	NM_000179.3(MSH6):c.261-14C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 36587	NM_000179.3(MSH6):c.276A>G (p.Pro92=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 215653	NM_000179.3(MSH6):c.354A>G (p.Thr118=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 89522	NM_000179.3(MSH6):c.457+13A>G	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 89526	NM_000179.3(MSH6):c.457+52T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36597	NM_000179.3(MSH6):c.540T>C (p.Asp180=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 89543	NM_000179.3(MSH6):c.628-56C>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 135843	NM_000179.3(MSH6):c.628-7C>A	MSH6	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 428338	NM_000179.3(MSH6):c.628-2A>G	MSH6	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 36599	NM_000179.3(MSH6):c.642C>T (p.Tyr214=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
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 237213	NM_000179.3(MSH6):c.741del (p.Lys247fs)	MSH6 (K117fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 1049063	NM_000179.3(MSH6):c.958C>A (p.Pro320Thr)	MSH6 (P18T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 138256	NM_000179.3(MSH6):c.984C>T (p.Ser328=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 216042	NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)	MSH6 (Q349* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +3 more	GPathogenic
Select item 182618	NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)	MSH6 (G354V +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 42467	NM_000179.3(MSH6):c.1164C>T (p.His388=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36582	NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	MSH6 (L396V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 127558	NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)	MSH6 (W414* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +4 more	GPathogenic
Select item 36583	NM_000179.3(MSH6):c.1345C>T (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 1072643	NM_000179.3(MSH6):c.1392del (p.Ile464fs)	MSH6 (I162fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 380427	NM_000179.3(MSH6):c.1524G>A (p.Val508=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 89204	NM_000179.3(MSH6):c.1590del (p.Ser532fs)	MSH6 (S402fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 138258	NM_000179.3(MSH6):c.1665A>G (p.Ala555=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 439911	NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)	MSH6 (G297* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +2 more	GPathogenic
Select item 237144	NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg)	MSH6 (G599R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 89256	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6 (V415fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 483791	NM_000179.3(MSH6):c.2161A>C (p.Arg721=)	MSH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 36585	NM_000179.3(MSH6):c.2253T>C (p.Asn751=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 42468	NM_000179.3(MSH6):c.2272C>T (p.Leu758=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 428330	NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)	MSH6 (R459fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome 5 +2 more	GPathogenic
Select item 140836	NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)	MSH6 (R761G +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 479952	NM_000179.3(MSH6):c.2292T>C (p.Thr764=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 184701	NM_000179.3(MSH6):c.2314C>A (p.Arg772=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 455195	NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)	MSH6 (I795V +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 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 811526	NM_000179.3(MSH6):c.2429del (p.Glu810fs)	MSH6 (E508fs +2 more)	Deletion (frameshift variant)	Lynch syndrome 5 +2 more	GPathogenic
Select item 182636	NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)	MSH6 (E877K +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +3 more	GUncertain significance
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 455213	NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)	MSH6 (K885E +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182637	NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)	MSH6 (K888N +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 89312	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6 (R911* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 182680	NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)	MSH6 (I944fs +2 more)	Deletion (frameshift variant)	Endometrial carcinoma +5 more	GPathogenic
Select item 182666	NM_000179.3(MSH6):c.2940A>G (p.Glu980=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 186492	NM_000179.3(MSH6):c.2950A>C (p.Asn984His)	MSH6 (N984H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 142781	NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)	MSH6 (K711fs +1 more)	Deletion (frameshift variant)	Endometrial carcinoma +6 more	GPathogenic
Select item 184986	NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 184018	NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)	MSH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 138261	NM_000179.3(MSH6):c.3173-18T>A	MSH6	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 42469	NM_000179.3(MSH6):c.3173-1G>C	MSH6	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 134855	NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)	MSH6 (V1078A +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 89358	NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)	MSH6 (P1082L +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 42470	NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 89363	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6 (F958fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 233061	NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)	MSH6 (E1090D +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +4 more	GUncertain significance
Select item 36589	NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 185269	NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met)	MSH6 (I1113M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 183717	NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 455260	NM_000179.3(MSH6):c.3438+5C>G	MSH6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 89384	NM_000179.3(MSH6):c.3438+11_3438+14del	MSH6	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 42471	NM_000179.3(MSH6):c.3438+14A>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89391	NM_000179.3(MSH6):c.3439-2A>G	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 184794	NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)	MSH6 (V1160F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 811413	NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)	MSH6 (E1066* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +1 more	GPathogenic
Select item 127588	NM_000179.3(MSH6):c.3647-6T>A	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 140866	NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	MSH6 (R1242H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GPathogenic/Likely pathogenic
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Inherited ovarian cancer (without breast cancer) +6 more	GConflicting classifications of pathogenicity
Select item 231746	NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)	MSH6 (L1244del +2 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183754	NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 89464	NM_000179.3(MSH6):c.3801+17T>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 89486	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Duplication (nonsense)	Lynch syndrome	GPathogenic
Select item 89496	NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	MSH6 (L1200fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 993857	NM_000179.3(MSH6):c.4001+2T>A	MSH6	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 89500	NM_000179.3(MSH6):c.4001+2TAAC[2]	MSH6	Microsatellite (splice donor variant)	Lynch syndrome	GLikely benign

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Items: 86