ClinVar for Gene (Select 2956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068486	NM_001190274.2(FBXO11):c.2768C>G (p.Thr923Arg)	FBXO11, MSH6 (T839R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3065147	NM_000179.3(MSH6):c.1846T>C (p.Ser616Pro)	MSH6 (S314P +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GLikely benign
Select item 3062628	GRCh37/hg19 2p16.3(chr2:48030691-48052660)x3	FBXO11, MSH6	Copy number gain	not specified	GUncertain significance
Select item 3061662	NM_000179.3(MSH6):c.457+27G>T	MSH6	Single nucleotide variant (intron variant)	MSH6-related condition	GLikely benign
Select item 3050355	NM_001190274.2(FBXO11):c.2526T>C (p.Tyr842=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	FBXO11-related condition	GLikely benign
Select item 3049139	NM_000179.3(MSH6):c.457+52_457+55del	MSH6	Deletion (intron variant)	MSH6-related condition	GLikely benign
Select item 3031327	NM_000179.3(MSH6):c.458-20A>C	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	MSH6-related condition	GLikely benign
Select item 3030406	NM_000179.3(MSH6):c.957G>T (p.Thr319=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	MSH6-related condition	GLikely benign
Select item 3020735	NM_000179.3(MSH6):c.1436A>T (p.Lys479Ile)	MSH6 (K349I +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3017052	NM_000179.3(MSH6):c.3801+3_3801+6dup	MSH6	Duplication (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3015031	NM_000179.3(MSH6):c.3802-17T>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3013871	NM_001190274.2(FBXO11):c.2447-9_2447-5del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 3012780	NM_000179.3(MSH6):c.3801+7G>A	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3012663	NM_000179.3(MSH6):c.2873A>T (p.Gln958Leu)	MSH6 (Q859L +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3011303	NM_000179.3(MSH6):c.2543C>A (p.Thr848Asn)	MSH6 (T673N +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3011278	NM_000179.3(MSH6):c.3184T>C (p.Cys1062Arg)	MSH6 (C1036R +12 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010933	NM_000179.3(MSH6):c.3438+21dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GBenign
Select item 3010808	NM_000179.3(MSH6):c.2641delinsAAA (p.Gly881fs)	MSH6 (G881fs +8 more)	Indel (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010183	NM_000179.3(MSH6):c.3253_3254delinsTA (p.Thr1085Tyr)	MSH6 (T955Y +2 more)	Indel (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3008588	NM_001190274.2(FBXO11):c.2556-6T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008171	NM_000179.3(MSH6):c.2292T>G (p.Thr764=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3004201	NM_000179.3(MSH6):c.3958G>T (p.Ala1320Ser)	MSH6 (A1294S +15 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3003810	NM_000179.3(MSH6):c.49C>G (p.Leu17Val)	MSH6 (L17V)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3002583	NM_000179.3(MSH6):c.3155A>C (p.Glu1052Ala)	MSH6 (E1026A +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3000968	NM_000179.3(MSH6):c.3132C>T (p.Tyr1044=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3000574	NM_000179.3(MSH6):c.3439-5C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2999763	NM_000179.3(MSH6):c.3801+15T>G	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2998508	NM_000179.3(MSH6):c.3520_3521insGTAA (p.Phe1174fs)	MSH6 (F101fs +14 more)	Insertion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2997939	NM_000179.3(MSH6):c.1060G>A (p.Gly354Arg)	MSH6 (G179R +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2997793	NM_001190274.2(FBXO11):c.2454AAT[1] (p.Ile819del)	FBXO11, MSH6 (I819del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2996953	NM_000179.3(MSH6):c.3761A>T (p.Glu1254Val)	MSH6 (E1124V +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2996818	NM_000179.3(MSH6):c.146C>A (p.Ala49Asp)	MSH6 (P31T +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996769	NM_000179.3(MSH6):c.2157T>A (p.Thr719=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996592	NM_000179.3(MSH6):c.458-18A>G	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996174	NM_000179.3(MSH6):c.213C>A (p.Asn71Lys)	MSH6 (N71K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2994263	NM_001190274.2(FBXO11):c.2364T>A (p.Thr788=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988610	NM_000179.3(MSH6):c.260+6G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2986660	NM_001190274.2(FBXO11):c.2447-22_2447-19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2986028	NM_000179.3(MSH6):c.3564T>G (p.Ser1188Arg)	MSH6 (S1220R +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2985384	NM_000179.3(MSH6):c.2832A>G (p.Ile944Met)	MSH6 (I259M +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2983525	NM_000179.3(MSH6):c.1801C>A (p.Leu601Ile)	MSH6 (L502I +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2981560	NM_001190274.2(FBXO11):c.2619T>C (p.His873=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981317	NM_000179.3(MSH6):c.3194A>G (p.Asn1065Ser)	MSH6 (N1039S +12 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2977889	NM_000179.3(MSH6):c.1091T>A (p.Val364Asp)	MSH6 (V308D +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2976629	NM_001190274.2(FBXO11):c.2555+16_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2975991	NM_000179.3(MSH6):c.3962G>C (p.Arg1321Thr)	MSH6 (E1317Q +15 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2975291	NM_000179.3(MSH6):c.1638G>A (p.Glu546=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2971198	NM_001190274.2(FBXO11):c.2556-3T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970779	NM_000179.3(MSH6):c.3168G>T (p.Val1056=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2969396	NM_000179.3(MSH6):c.2211A>G (p.Ala737=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2966636	NM_000179.3(MSH6):c.2493C>A (p.Pro831=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2964363	NM_000179.3(MSH6):c.2609A>C (p.Lys870Thr)	MSH6 (K695T +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2963878	NM_000179.3(MSH6):c.1194G>C (p.Val398=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2962466	NM_000179.3(MSH6):c.3556+17C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2962269	NM_000179.3(MSH6):c.4070_*23del (p.Ile1357fs)	MSH6 (I1182fs +14 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2961634	NM_001190274.2(FBXO11):c.2555+18_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2959945	NM_001190274.2(FBXO11):c.2655-19G>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959326	NM_000179.3(MSH6):c.71C>G (p.Ser24Trp)	MSH6 (R6G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2959216	NM_000179.3(MSH6):c.15C>T (p.Ser5=)	MSH6	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2958780	NM_000179.3(MSH6):c.1930A>T (p.Arg644Trp)	MSH6 (R514W +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2919812	NM_000179.3(MSH6):c.4002-23_4002-4del	MSH6	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2915275	NM_000179.3(MSH6):c.1888G>T (p.Ala630Ser)	MSH6 (A328S +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2913748	NM_000179.3(MSH6):c.628-16T>A	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2908968	NM_000179.3(MSH6):c.3393T>A (p.Leu1131=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2907260	NM_000179.3(MSH6):c.458-10T>A	MSH6	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2898553	NM_001190274.2(FBXO11):c.2670T>C (p.Cys890=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897463	NM_000179.3(MSH6):c.974A>G (p.Gln325Arg)	MSH6 (Q23R +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2893953	NM_000179.3(MSH6):c.1215T>C (p.Ser405=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2891555	NM_000179.3(MSH6):c.3556+16C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2884267	NM_000179.3(MSH6):c.3802-6_3802-4dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2883669	NM_000179.3(MSH6):c.564T>A (p.Ile188=)	MSH6	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2883387	NM_000179.3(MSH6):c.2636C>T (p.Ala879Val)	MSH6 (A780V +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2877257	NM_000179.3(MSH6):c.457+31_457+48dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2876835	NM_000179.3(MSH6):c.169C>A (p.Pro57Thr)	MSH6 (P57T)	Single nucleotide variant (missense variant +4 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2875258	NM_000179.3(MSH6):c.3173-3C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2874951	NM_000179.3(MSH6):c.130C>G (p.Pro44Ala)	MSH6 (P44A)	Single nucleotide variant (missense variant +4 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2869887	NM_000179.3(MSH6):c.1353C>G (p.Phe451Leu)	MSH6 (F149L +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2869771	NM_000179.3(MSH6):c.3318T>A (p.Asp1106Glu)	MSH6 (D1007E +13 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2867607	NM_000179.3(MSH6):c.2495del (p.Leu832fs)	MSH6 (L832fs +8 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2866960	NM_000179.3(MSH6):c.2706T>G (p.Phe902Leu)	MSH6 (F217L +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2866604	NM_000179.3(MSH6):c.229C>A (p.Arg77=)	MSH6 (C58*)	Single nucleotide variant (synonymous variant +4 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2866022	NM_000179.3(MSH6):c.628-16T>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2865326	NM_000179.3(MSH6):c.457+15T>A	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2864362	NM_000179.3(MSH6):c.808A>G (p.Lys270Glu)	MSH6 (K140E +7 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2864305	NM_000179.3(MSH6):c.2460_2461delinsAA (p.Leu821Ile)	MSH6 (L691I +8 more)	Indel (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2864171	NM_000179.3(MSH6):c.3737C>G (p.Ser1246Ter)	MSH6 (S1116* +14 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2863809	NM_000179.3(MSH6):c.627+14A>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2863372	NM_000179.3(MSH6):c.3948A>G (p.Gly1316=)	MSH6 (D1312G)	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2863359	NM_000179.3(MSH6):c.2281A>C (p.Arg761=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2863354	NM_000179.3(MSH6):c.1372C>G (p.His458Asp)	MSH6 (H156D +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2863252	NM_000179.3(MSH6):c.2957C>A (p.Thr986Asn)	MSH6 (T684N +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2863016	NM_000179.3(MSH6):c.3173-11dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2862765	NM_000179.3(MSH6):c.1721C>T (p.Ser574Leu)	MSH6 (S518L +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2862755	NM_000179.3(MSH6):c.955A>G (p.Thr319Ala)	MSH6 (T293A +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2862618	NM_000179.3(MSH6):c.3531T>G (p.Leu1177=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2862371	NM_000179.3(MSH6):c.2497_2498del (p.Lys833fs)	MSH6 (K833fs +8 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2862187	NM_000179.3(MSH6):c.3801+18_3801+21dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2861976	NM_000179.3(MSH6):c.1347G>C (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	MSH6-related condition +1 more	GLikely benign
Select item 2861851	NM_000179.3(MSH6):c.3498del (p.Arg1166fs)	MSH6 (R1067fs +14 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2861843	NM_000179.3(MSH6):c.1165C>A (p.Pro389Thr)	MSH6 (P214T +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance

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