ClinVar for MedGen (Select 474474) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076031	NC_000001.11:g.45331557del	MUTYH	Deletion	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3075523	NM_001128425.2(MUTYH):c.189G>A (p.Gly63=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3075241	NM_001048174.2(MUTYH):c.1085T>C (p.Val362Ala)	MUTYH (V247A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074953	NM_001128425.2(MUTYH):c.36+1G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3074808	NM_001048174.2(MUTYH):c.1098C>A (p.Asn366Lys)	MUTYH (N251K +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074711	NM_001048174.2(MUTYH):c.1551C>T (p.Asn517=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3074654	NM_001048174.2(MUTYH):c.756A>C (p.Gln252His)	MUTYH (Q137H +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3074476	NM_001048174.2(MUTYH):c.1148C>A (p.Pro383His)	MUTYH (P268H +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074290	NM_001048174.2(MUTYH):c.1146G>T (p.Glu382Asp)	MUTYH (E267D +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074278	NM_001048174.2(MUTYH):c.819del (p.Val274fs)	MUTYH (V159fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 3073985	NM_001048174.2(MUTYH):c.115+2T>G	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3073919	NM_001048174.2(MUTYH):c.977G>A (p.Gly326Glu)	MUTYH (G211E +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3073893	NM_001048174.2(MUTYH):c.1460C>A (p.Ser487Tyr)	MUTYH (S372Y +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3073739	NM_001048174.2(MUTYH):c.89G>C (p.Ser30Thr)	MUTYH (S30T +2 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3073637	NM_001128425.2(MUTYH):c.158-5CA[3]	MUTYH	Microsatellite (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3073240	NM_001048174.2(MUTYH):c.1321_1328del (p.Val441fs)	MUTYH (V326fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 3073161	NM_001048174.2(MUTYH):c.705-15G>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 3073160	NM_001048174.2(MUTYH):c.1393-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3073062	NM_001048174.2(MUTYH):c.1467C>G (p.Cys489Trp)	MUTYH (C374W +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3072661	NM_001048174.2(MUTYH):c.494del (p.Val165fs)	MUTYH (V137fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 3072543	NM_001048174.2(MUTYH):c.1306A>G (p.Thr436Ala)	MUTYH (T321A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3072452	NM_001048174.2(MUTYH):c.606+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3072384	NM_001048174.2(MUTYH):c.449G>T (p.Gly150Val)	MUTYH (G122V +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3072114	NM_001048174.2(MUTYH):c.850-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3072052	NM_025077.4(TOE1):c.5C>G (p.Ala2Gly)	MUTYH, TOE1 (A2G)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3072025	NM_001048174.2(MUTYH):c.329A>C (p.Gln110Pro)	MUTYH (Q110P +9 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071971	NM_025077.4(TOE1):c.5CCG[1] (p.Ala3del)	TOE1, MUTYH (A3del)	Microsatellite (inframe_deletion +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071967	NM_001048174.2(MUTYH):c.1432A>C (p.Met478Leu)	MUTYH (M363L +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071871	NM_025077.4(TOE1):c.12C>T (p.Asp4=)	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071630	NM_001048174.2(MUTYH):c.480_492+2dup	MUTYH	Duplication (splice donor variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071271	NM_001048174.2(MUTYH):c.1541A>G (p.His514Arg)	MUTYH (H399R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071045	NM_001048174.2(MUTYH):c.213C>T (p.Ser71=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3070342	NM_001048174.2(MUTYH):c.516dup (p.Met173fs)	MUTYH (M145fs +12 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3070341	NM_001048174.2(MUTYH):c.509_512del (p.Gly170fs)	MUTYH (G142fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3070340	NM_001048174.2(MUTYH):c.514_515insTCT (p.His172delinsLeuTyr)	MUTYH	Insertion (inframe_indel +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3069408	NM_001048174.2(MUTYH):c.945G>C (p.Leu315=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3069365	NM_001048174.2(MUTYH):c.116-56A>G	MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3064807	NM_001048174.2(MUTYH):c.168C>T (p.Tyr56=)	MUTYH	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3022792	NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val)	MUTYH, TOE1 (L8V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3019513	NM_001048174.2(MUTYH):c.380A>C (p.Lys127Thr)	MUTYH (K127T +10 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3018212	NM_001048174.2(MUTYH):c.855G>T (p.Glu285Asp)	MUTYH (E296D +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3017474	NM_001048174.2(MUTYH):c.730C>G (p.Pro244Ala)	MUTYH (P129A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3012457	NM_001048174.2(MUTYH):c.849+11T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 3008327	NM_001048174.2(MUTYH):c.850-11G>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 3004663	NM_001048174.2(MUTYH):c.850-7C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 3004246	NM_001048174.2(MUTYH):c.1239+10C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2997938	NM_001048174.2(MUTYH):c.57G>C (p.Gln19His)	MUTYH (Q33H +2 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2993178	NM_001048174.2(MUTYH):c.1435-4A>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2987941	NM_001048174.2(MUTYH):c.231C>A (p.Asp77Glu)	MUTYH (D102E +8 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2978159	NM_001048174.2(MUTYH):c.1527C>T (p.Ile509=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2976535	NM_001048174.2(MUTYH):c.1223T>G (p.Leu408Arg)	MUTYH (L395R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2964969	NM_001048174.2(MUTYH):c.705-19C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2964933	NM_001048174.2(MUTYH):c.1087dup (p.Gln363fs)	MUTYH (Q248fs +12 more)	Duplication (non-coding transcript variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2961772	NM_001048174.2(MUTYH):c.492+12G>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2959575	NM_001048174.2(MUTYH):c.849+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +1 more	GLikely pathogenic
Select item 2959319	NM_001048174.2(MUTYH):c.304+15T>G	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2959222	NM_001048174.2(MUTYH):c.705-16T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2957882	NM_001048174.2(MUTYH):c.508G>A (p.Gly170Arg)	MUTYH (G157R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2917798	NM_001048174.2(MUTYH):c.913+19C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2914039	NM_001048174.2(MUTYH):c.1435-5C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 2911162	NM_001048174.2(MUTYH):c.1393-15T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2910809	NM_001048174.2(MUTYH):c.850-15C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2910727	NM_001048174.2(MUTYH):c.5G>A (p.Arg2Lys)	MUTYH (R16K +2 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2906405	NM_001048174.2(MUTYH):c.832T>C (p.Cys278Arg)	MUTYH (C163R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2901184	NM_001048174.2(MUTYH):c.1456T>C (p.Ser486Pro)	MUTYH (S487P +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 2894248	NM_001048174.2(MUTYH):c.1167C>G (p.Arg389=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2890385	NM_001048174.2(MUTYH):c.420+5G>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2886235	NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)	MUTYH (Q15* +8 more)	Single nucleotide variant (nonsense +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2882707	NM_001048174.2(MUTYH):c.607-10T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2878089	NM_001048174.2(MUTYH):c.1148_1156del (p.Pro383_Glu385del)	MUTYH	Deletion (inframe_deletion +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2877387	NM_001048174.2(MUTYH):c.1254C>G (p.Phe418Leu)	MUTYH (F326L +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2873024	NM_001048174.2(MUTYH):c.1435-18C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2870310	NM_001048174.2(MUTYH):c.242G>T (p.Arg81Leu)	MUTYH (R106L +8 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2867841	NM_001048174.2(MUTYH):c.1434+10C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2867836	NM_001048174.2(MUTYH):c.950C>T (p.Pro317Leu)	MUTYH (P303L +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2866143	NM_001128425.2(MUTYH):c.169A>C (p.Met57Leu)	MUTYH (M57L +4 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2865447	NM_001128425.2(MUTYH):c.14_36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2864705	NM_001048174.2(MUTYH):c.1161T>G (p.Leu387=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2862128	NM_001048174.2(MUTYH):c.1435-10T>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2861916	NM_001048174.2(MUTYH):c.640del (p.Val214fs)	MUTYH (V221fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2861539	NM_001048174.2(MUTYH):c.1313T>G (p.Val438Gly)	MUTYH (V323G +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2859735	NM_001048174.2(MUTYH):c.1221C>A (p.His407Gln)	MUTYH (H421Q +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2857673	NM_001048174.2(MUTYH):c.1167C>A (p.Arg389=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2855398	NM_001048174.2(MUTYH):c.477G>T (p.Gln159His)	MUTYH (Q131H +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2855065	NM_025077.4(TOE1):c.-47A>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2853795	NM_001048174.2(MUTYH):c.378+19G>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2853563	NM_001048174.2(MUTYH):c.1483C>G (p.Arg495Gly)	MUTYH (R380G +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2853149	NM_001048174.2(MUTYH):c.1102G>C (p.Gly368Arg)	MUTYH (G369R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2852402	NM_001048174.2(MUTYH):c.80A>G (p.Lys27Arg)	MUTYH (K41R +2 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2850848	NM_001048174.2(MUTYH):c.705-3T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2849614	NM_001048174.2(MUTYH):c.379-11T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GLikely benign
Select item 2849021	NM_001048174.2(MUTYH):c.733G>T (p.Ala245Ser)	MUTYH (A153S +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2848608	NM_001048174.2(MUTYH):c.1213G>T (p.Ala405Ser)	MUTYH (A290S +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2845528	NM_001048174.2(MUTYH):c.433C>G (p.Leu145Val)	MUTYH (L131V +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2845313	NM_001048174.2(MUTYH):c.305-3del	MUTYH	Deletion (intron variant)	Familial adenomatous polyposis 2	GBenign
Select item 2845028	NM_001048174.2(MUTYH):c.607-8T>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2843361	NM_025077.4(TOE1):c.-47A>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843296	NM_001048174.2(MUTYH):c.1466G>C (p.Cys489Ser)	MUTYH (C374S +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2843230	NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)	MUTYH, TOE1 (S9R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2842908	NM_001048174.2(MUTYH):c.607-2A>C	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2	GLikely pathogenic

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