"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682017	NM_000179.3(MSH6):c.-10G>A	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 89164	NM_000179.3(MSH6):c.-8C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 142219	NM_000179.3(MSH6):c.-2G>T	MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Breast and/or ovarian cancer +7 more	GPathogenic/Likely pathogenic
Select item 428380	NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)	MSH6 (T6P)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 185016	NM_000179.3(MSH6):c.30C>G (p.Phe10Leu)	MSH6 (F10L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186416	NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)	MSH6 (F11L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 36596	NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)	MSH6 (K13T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +6 more	GUncertain significance
Select item 993116	NM_000179.3(MSH6):c.42T>G (p.Ser14=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 944227	NM_000179.3(MSH6):c.47C>A (p.Ala16Glu)	MSH6 (A16E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 485853	NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)	MSH6 (N21D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 410429	NM_000179.3(MSH6):c.64A>G (p.Lys22Glu)	MSH6 (K22E)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 919128	NM_000179.3(MSH6):c.80_83del (p.Ala27fs)	MSH6 (A27fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 455351	NM_000179.3(MSH6):c.83C>T (p.Ser28Leu)	MSH6 (S28L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 216325	NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)	MSH6 (G32C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 183756	NM_000179.3(MSH6):c.102C>A (p.Ala34=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 439198	NM_000179.3(MSH6):c.105C>T (p.Ala35=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 233139	NM_000179.3(MSH6):c.106G>T (p.Ala36Ser)	MSH6 (A36S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 140779	NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	MSH6 (A36V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 801216	NM_000179.3(MSH6):c.124C>A (p.Pro42Thr)	MSH6 (P42T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 89180	NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	MSH6 (P42S)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 479862	NM_000179.3(MSH6):c.135C>T (p.Gly45=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 231201	NM_000179.3(MSH6):c.135C>A (p.Gly45=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 1772925	NM_000179.3(MSH6):c.145_146delinsAA (p.Ala49Asn)	MSH6 (A49N +1 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 619698	NM_000179.3(MSH6):c.145G>T (p.Ala49Ser)	MSH6 (A49S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 418318	NM_000179.3(MSH6):c.159TGGGCC[3] (p.54GP[3])	MSH6	Microsatellite (inframe_insertion +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 89208	NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)	MSH6 (G54A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 801218	NM_000179.3(MSH6):c.167G>A (p.Gly56Glu)	MSH6 (G56E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 135832	NM_000179.3(MSH6):c.178T>C (p.Leu60=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 439201	NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)	MSH6 (R62C)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +5 more	GUncertain significance
Select item 483775	NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)	MSH6 (S63A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 127566	NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)	MSH6 (S63Y)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 127567	NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)	MSH6 (A64P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 455187	NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)	MSH6 (R77W)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 479876	NM_000179.3(MSH6):c.230G>A (p.Arg77Gln)	MSH6 (R77Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 219856	NM_000179.3(MSH6):c.240A>G (p.Val80=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 127571	NM_000179.3(MSH6):c.242C>T (p.Ala81Val)	MSH6 (A81V)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 184546	NM_000179.3(MSH6):c.246T>C (p.Pro82=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 89288	NM_000179.3(MSH6):c.255C>A (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 619699	NM_000179.3(MSH6):c.256A>C (p.Thr86Pro)	LOC129933707, MSH6 (T86P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 480918	NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)	LOC129933707, MSH6 (T86I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 379551	NM_000179.3(MSH6):c.260+7G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220279	NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)	MSH6 (D89E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 483768	NM_000179.3(MSH6):c.275C>T (p.Pro92Leu)	MSH6 (P92L)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 801222	NM_000179.3(MSH6):c.292_301del (p.Ala98fs)	MSH6 (A98fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1422384	NM_000179.3(MSH6):c.311C>T (p.Pro104Leu)	MSH6 (P104L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 237183	NM_000179.3(MSH6):c.320C>T (p.Pro107Leu)	MSH6 (P107L)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 182676	NM_000179.3(MSH6):c.321T>C (p.Pro107=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 186204	NM_000179.3(MSH6):c.333C>T (p.Tyr111=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +5 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)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
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 229725	NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)	MSH6 (I120T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 219881	NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)	MSH6 (R121C)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 89428	NM_000179.3(MSH6):c.363C>T (p.Arg121=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 5 +3 more	GBenign/Likely benign
Select item 416180	NM_000179.3(MSH6):c.366G>A (p.Glu122=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 233561	NM_000179.3(MSH6):c.383G>A (p.Arg128His)	MSH6 (R128H)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 186078	NM_000179.3(MSH6):c.393A>C (p.Val131=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 237207	NM_000179.3(MSH6):c.408C>T (p.Asp136=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome +4 more	GLikely benign
Select item 428343	NM_000179.3(MSH6):c.423del (p.Trp142fs)	MSH6	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 41596	NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	MSH6 (S144I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 490020	NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)	MSH6 (K145N)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142360	NM_000179.3(MSH6):c.448C>T (p.Pro150Ser)	MSH6 (P150S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 439215	NM_000179.3(MSH6):c.455C>A (p.Thr152Lys)	MSH6 (T152K)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 379500	NM_000179.3(MSH6):c.457+7G>C	MSH6	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 658846	NM_000179.3(MSH6):c.458-4C>G	MSH6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 142426	NM_000179.3(MSH6):c.491A>C (p.His164Pro)	MSH6 (H164P)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 231130	NM_000179.3(MSH6):c.494T>G (p.Phe165Cys)	MSH6 (F165C)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 185008	NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)	MSH6 (A168G)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 761128	NM_000179.3(MSH6):c.520A>C (p.Arg174=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439216	NM_000179.3(MSH6):c.527T>C (p.Met176Thr)	MSH6 (M176T)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 182656	NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)	MSH6 (R178C)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 188269	NM_000179.3(MSH6):c.533G>A (p.Arg178His)	MSH6 (R178H)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 422416	NM_000179.3(MSH6):c.552_555del (p.Asn184fs)	MSH6 (N184fs)	Microsatellite (frameshift variant +2 more)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 439217	NM_000179.3(MSH6):c.565_624del (p.Lys189_Met208del)	MSH6	Deletion (inframe_deletion +2 more)	not specified	GUncertain significance
Select item 410416	NM_000179.3(MSH6):c.566A>G (p.Lys189Arg)	MSH6 (K189R)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 631013	NM_000179.3(MSH6):c.569G>C (p.Arg190Thr)	MSH6 (R190T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 183724	NM_000179.3(MSH6):c.578del (p.Leu193fs)	MSH6 (L193fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic/Likely pathogenic
Select item 2682026	NM_000179.3(MSH6):c.579G>C (p.Leu193Phe)	MSH6 (L137F +6 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 455334	NM_000179.3(MSH6):c.615A>G (p.Glu205=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 237212	NM_000179.3(MSH6):c.628-8C>T	MSH6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
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 1075827	NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)	MSH6	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 216321	NM_000179.3(MSH6):c.643G>A (p.Val215Ile)	MSH6 (V215I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 220192	NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)	MSH6 (T216I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
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 more	GConflicting classifications of pathogenicity
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 89552	NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	MSH6 (E221D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +6 more	GConflicting classifications of pathogenicity
Select item 1330024	NM_000179.3(MSH6):c.675_676dup (p.Glu226fs)	MSH6 (E226fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 142508	NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)	MSH6 (S238Y +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 89559	NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	MSH6 (R240* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 230984	NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)	MSH6 (R240Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 410485	NM_000179.3(MSH6):c.725G>C (p.Ser242Thr)	MSH6 (S242T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 234564	NM_000179.3(MSH6):c.732A>G (p.Gln244=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 220143	NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)	MSH6 (I245L +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 410494	NM_000179.3(MSH6):c.741dup (p.Arg248fs)	MSH6 (R118fs +1 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 141365	NM_000179.3(MSH6):c.742del (p.Arg248fs)	MSH6 (R118fs +1 more)	Deletion (frameshift variant +1 more)	Lynch syndrome +6 more	GPathogenic
Select item 89563	NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	MSH6 (R248* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic

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