ClinVar for MedGen (Select 862913) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245824	NC_000007.13:g.(?_124532300)_(124537227_?)dup	POT1	Duplication	Tumor predisposition syndrome 3	GUncertain significance
Select item 3245823	NC_000007.14:g.(?_124892256)_(124897173_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245821	NC_000007.13:g.(?_124491916)_(124537227_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245820	NC_000007.13:g.(?_124464016)_(124469416_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GUncertain significance
Select item 3245819	NC_000007.13:g.(?_124510955)_(124511105_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 3245818	NC_000007.13:g.(?_124464016)_(124464148_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GUncertain significance
Select item 3020212	NM_015450.3(POT1):c.910G>C (p.Asp304His)	POT1 (D304H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3019937	NM_015450.3(POT1):c.870-7A>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 3018367	NM_015450.3(POT1):c.683A>C (p.His228Pro)	POT1 (H228P +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3018173	NM_015450.3(POT1):c.1744del (p.Ser582fs)	POT1 (S582fs +1 more)	Deletion (frameshift variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 3017324	NM_015450.3(POT1):c.1021C>A (p.Gln341Lys)	POT1 (Q210K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 3015093	NM_015450.3(POT1):c.437C>G (p.Pro146Arg)	POT1 (P15R +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3012318	NM_015450.3(POT1):c.645T>A (p.Asn215Lys)	POT1 (N215K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 3010810	NM_015450.3(POT1):c.1875_1877delinsGG (p.Phe625fs)	POT1 (F494fs +1 more)	Indel (frameshift variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3010611	NM_015450.3(POT1):c.255+15G>A	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 3006844	NM_015450.3(POT1):c.117A>T (p.Lys39Asn)	POT1 (K39N)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3005280	NM_015450.3(POT1):c.1197A>C (p.Ile399=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2995775	NM_015450.3(POT1):c.428A>G (p.His143Arg)	POT1 (H143R +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2995318	NM_015450.3(POT1):c.1370-4A>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2994604	NM_015450.3(POT1):c.1740G>T (p.Gln580His)	POT1 (Q580H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2993127	NM_015450.3(POT1):c.1299A>T (p.Lys433Asn)	POT1 (K302N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2988425	NM_015450.3(POT1):c.703-2A>T	POT1	Single nucleotide variant (splice acceptor variant)	Tumor predisposition syndrome 3	GLikely pathogenic
Select item 2985724	NM_015450.3(POT1):c.1686+6dup	POT1	Duplication (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2984353	NM_015450.3(POT1):c.812dup (p.Tyr271Ter)	POT1 (Y140* +1 more)	Duplication (nonsense +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2979121	NM_015450.3(POT1):c.1222del (p.Thr408fs)	POT1 (T408fs +1 more)	Deletion (frameshift variant +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2978133	NM_015450.3(POT1):c.1506-20_1506-19del	POT1	Deletion (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2961866	NM_015450.3(POT1):c.169_170dup (p.Leu57_Thr58insTer)	POT1	Duplication (non-coding transcript variant +2 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2961336	NM_015450.3(POT1):c.1363A>T (p.Ile455Leu)	POT1 (I455L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2920120	NM_015450.3(POT1):c.950G>C (p.Ser317Thr)	POT1 (S186T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2918501	NM_015450.3(POT1):c.869+20A>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2917368	NM_015450.3(POT1):c.867A>G (p.Lys289=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2917263	NM_015450.3(POT1):c.9+11A>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2917187	NM_015450.3(POT1):c.821G>A (p.Gly274Glu)	POT1 (G274E +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2915165	NM_015450.3(POT1):c.1793-11dup	POT1	Duplication (intron variant)	Tumor predisposition syndrome 3	GBenign
Select item 2915128	NM_015450.3(POT1):c.256-11T>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2910914	NM_015450.3(POT1):c.870-9C>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2910215	NM_015450.3(POT1):c.898A>C (p.Asn300His)	POT1 (N169H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2909076	NM_015450.3(POT1):c.1623G>A (p.Val541=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2906419	NM_015450.3(POT1):c.1609C>T (p.Pro537Ser)	POT1 (P406S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2906320	NM_015450.3(POT1):c.137T>C (p.Val46Ala)	POT1 (V46A)	Single nucleotide variant (missense variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2898825	NM_015450.3(POT1):c.1022A>C (p.Gln341Pro)	POT1 (Q341P +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2896354	NM_015450.3(POT1):c.854_855del (p.Val285fs)	POT1 (V285fs +1 more)	Microsatellite (frameshift variant +1 more)	Tumor predisposition syndrome 3 +1 more	GPathogenic
Select item 2894868	NM_015450.3(POT1):c.398T>G (p.Val133Gly)	POT1 (V2G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2889153	NM_015450.3(POT1):c.154C>T (p.Gln52Ter)	POT1 (Q52*)	Single nucleotide variant (nonsense +2 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2884729	NM_015450.3(POT1):c.272A>G (p.Lys91Arg)	POT1 (K91R)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2882426	NM_015450.3(POT1):c.1023G>C (p.Gln341His)	POT1 (Q341H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2881926	NM_015450.3(POT1):c.567_568del (p.Pro190fs)	POT1 (P190fs +1 more)	Microsatellite (frameshift variant +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2879800	NM_015450.3(POT1):c.136G>A (p.Val46Ile)	POT1 (V46I)	Single nucleotide variant (missense variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2876780	NM_015450.3(POT1):c.60T>C (p.Gly20=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 2875579	NM_015450.3(POT1):c.1003_1006+10del	POT1	Deletion (splice donor variant)	Tumor predisposition syndrome 3	GLikely pathogenic
Select item 2874498	NM_015450.3(POT1):c.609T>G (p.Leu203=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2874424	NM_015450.3(POT1):c.1369+9T>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2872433	NM_015450.3(POT1):c.610G>A (p.Glu204Lys)	POT1 (E204K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2871293	NM_015450.3(POT1):c.494C>A (p.Thr165Asn)	POT1 (T34N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2866552	NM_015450.3(POT1):c.582G>A (p.Trp194Ter)	POT1 (W63* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2864313	NM_015450.3(POT1):c.89A>G (p.Lys30Arg)	POT1 (K30R)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2864309	NM_015450.3(POT1):c.835C>G (p.Pro279Ala)	POT1 (P148A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2863814	NM_015450.3(POT1):c.338C>G (p.Pro113Arg)	POT1 (P113R)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2863352	NM_015450.3(POT1):c.5C>T (p.Ser2Phe)	POT1 (S2F)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2861919	NM_015450.3(POT1):c.1828T>G (p.Tyr610Asp)	POT1 (Y479D +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2861817	NM_015450.3(POT1):c.851A>G (p.Asp284Gly)	POT1 (D153G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2861463	NM_015450.3(POT1):c.1692A>C (p.Lys564Asn)	POT1 (K433N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2859786	NM_015450.3(POT1):c.1595-12T>A	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2859340	NM_015450.3(POT1):c.1127A>C (p.Gln376Pro)	POT1 (Q376P +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2858934	NM_015450.3(POT1):c.1793-17T>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2858500	NM_015450.3(POT1):c.921T>A (p.Cys307Ter)	POT1 (C176* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2857205	NM_015450.3(POT1):c.1236G>C (p.Lys412Asn)	POT1 (K281N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2857142	NM_015450.3(POT1):c.1535T>A (p.Ile512Lys)	POT1 (I512K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2856983	NM_015450.3(POT1):c.309T>A (p.Ser103=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2856108	NM_015450.3(POT1):c.1069C>T (p.Pro357Ser)	POT1 (P357S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2856105	NM_015450.3(POT1):c.1823A>C (p.Lys608Thr)	POT1 (K608T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2854601	NM_015450.3(POT1):c.562A>G (p.Arg188Gly)	POT1 (R188G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2854537	NM_015450.3(POT1):c.869+17del	POT1	Deletion (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2853986	NM_015450.3(POT1):c.1605T>C (p.Ile535=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 2853647	NM_015450.3(POT1):c.546+18C>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2853067	NM_015450.3(POT1):c.1369+14G>A	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2852083	NM_015450.3(POT1):c.911A>T (p.Asp304Val)	POT1 (D173V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2851795	NM_015450.3(POT1):c.1049C>A (p.Ala350Asp)	POT1 (A219D +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2851135	NM_015450.3(POT1):c.990A>G (p.Gln330=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2850555	NM_015450.3(POT1):c.1114A>C (p.Arg372=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2849427	NM_015450.3(POT1):c.930A>C (p.Glu310Asp)	POT1 (E310D +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2848449	NM_015450.3(POT1):c.1370G>T (p.Gly457Val)	POT1 (G326V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2847613	NM_015450.3(POT1):c.1549T>G (p.Ser517Ala)	POT1 (S517A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2847391	NM_015450.3(POT1):c.766C>T (p.Gln256Ter)	POT1 (Q256* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2846499	NM_015450.3(POT1):c.1163+6T>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2846190	NM_015450.3(POT1):c.1151A>G (p.Lys384Arg)	POT1 (K253R +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2846172	NM_015450.3(POT1):c.1629_1632dup (p.Thr545fs)	POT1 (T414fs +1 more)	Duplication (frameshift variant +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2846127	NM_015450.3(POT1):c.869+19G>C	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2845995	NM_015450.3(POT1):c.299G>C (p.Gly100Ala)	POT1 (G100A)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2845560	NM_015450.3(POT1):c.949+1G>C	POT1	Single nucleotide variant (splice donor variant)	Tumor predisposition syndrome 3	GLikely pathogenic
Select item 2845541	NM_015450.3(POT1):c.1793-10_1793-6dup	POT1	Duplication (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2844340	NM_015450.3(POT1):c.89A>C (p.Lys30Thr)	POT1 (K30T)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2843359	NM_015450.3(POT1):c.217T>C (p.Tyr73His)	POT1 (Y73H)	Single nucleotide variant (missense variant +2 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2843255	NM_015450.3(POT1):c.1126C>T (p.Gln376Ter)	POT1 (Q376* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 2843176	NM_015450.3(POT1):c.1254A>G (p.Leu418=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2842767	NM_015450.3(POT1):c.1691A>G (p.Lys564Arg)	POT1 (K433R +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2842023	NM_015450.3(POT1):c.1745G>C (p.Ser582Thr)	POT1 (S451T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2840870	NM_015450.3(POT1):c.1534A>T (p.Ile512Leu)	POT1 (I381L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2840516	NM_015450.3(POT1):c.1505+15T>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3	GLikely benign
Select item 2839097	NM_015450.3(POT1):c.552G>C (p.Trp184Cys)	POT1 (W184C +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance

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