ClinVar for MedGen (Select 815985) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019973	NM_015271.5(TRIM2):c.633G>A (p.Gln211=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 3018510	NM_015271.5(TRIM2):c.262C>T (p.Pro88Ser)	TRIM2 (P61S +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 3018177	NM_015271.5(TRIM2):c.177T>C (p.Asn59=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 3010962	NM_015271.5(TRIM2):c.2121T>C (p.Asn707=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 3009384	NM_015271.5(TRIM2):c.507G>A (p.Thr169=)	TRIM2	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 3006271	NM_015271.5(TRIM2):c.731T>C (p.Val244Ala)	TRIM2 (V131A +7 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 3003214	NM_015271.5(TRIM2):c.454-18T>C	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2999783	NM_015271.5(TRIM2):c.605+8A>C	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2999524	NM_015271.5(TRIM2):c.1951+20G>A	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2999008	NM_015271.5(TRIM2):c.1912A>G (p.Arg638Gly)	TRIM2 (R525G +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2985316	NM_015271.5(TRIM2):c.1410C>A (p.Ser470Arg)	TRIM2 (S318R +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2984380	NM_015271.5(TRIM2):c.1403C>T (p.Pro468Leu)	TRIM2 (P356L +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2966075	NM_015271.5(TRIM2):c.2251G>A (p.Asp751Asn)	TRIM2 (D724N +12 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2956928	NM_015271.5(TRIM2):c.1712G>T (p.Ser571Ile)	TRIM2 (S571I +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2919403	NM_015271.5(TRIM2):c.1114T>A (p.Ser372Thr)	TRIM2 (S363T +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2917397	NM_015271.5(TRIM2):c.425C>T (p.Pro142Leu)	TRIM2 (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2915390	NM_015271.5(TRIM2):c.1354G>C (p.Ala452Pro)	TRIM2 (A340P +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2914155	NM_015271.5(TRIM2):c.278C>A (p.Thr93Asn)	TRIM2 (T92N +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2913176	NM_015271.5(TRIM2):c.1768G>A (p.Asp590Asn)	TRIM2 (D580N +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2911037	NM_015271.5(TRIM2):c.1162G>A (p.Gly388Ser)	TRIM2 (G388S +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2909266	NM_015271.5(TRIM2):c.1444G>A (p.Ala482Thr)	TRIM2 (A330T +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2908463	NM_015271.5(TRIM2):c.1770T>C (p.Asp590=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2907515	NM_015271.5(TRIM2):c.889G>A (p.Val297Ile)	TRIM2 (V278I +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2903701	NM_015271.5(TRIM2):c.2163+14C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2902705	NM_015271.5(TRIM2):c.496C>T (p.Arg166Trp)	TRIM2 (R139W +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2902154	NM_015271.5(TRIM2):c.569C>G (p.Ala190Gly)	TRIM2 (A190G +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2886339	NM_015271.5(TRIM2):c.144G>C (p.Leu48=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2886338	NM_015271.5(TRIM2):c.582C>A (p.Val194=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2882487	NM_015271.5(TRIM2):c.885C>T (p.Thr295=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2881293	NM_015271.5(TRIM2):c.2104G>A (p.Val702Ile)	TRIM2 (V696I +12 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2878300	NM_015271.5(TRIM2):c.1298G>A (p.Arg433Lys)	TRIM2 (R281K +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2876149	NM_015271.5(TRIM2):c.2022+6A>G	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2875022	NM_015271.5(TRIM2):c.1560T>G (p.Ala520=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2874295	NM_015271.5(TRIM2):c.1194C>G (p.Thr398=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2872054	NM_015271.5(TRIM2):c.1614+9C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2864898	NM_015271.5(TRIM2):c.1347C>T (p.Ile449=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2863378	NM_015271.5(TRIM2):c.1021_1040del (p.Asn341fs)	TRIM2 (N229fs +11 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2862990	NM_015271.5(TRIM2):c.1217G>A (p.Gly406Glu)	TRIM2 (G293E +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2859311	NM_015271.5(TRIM2):c.1967C>A (p.Ala656Asp)	TRIM2 (A543D +12 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2858524	NM_015271.5(TRIM2):c.1782+14C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2858273	NM_015271.5(TRIM2):c.447T>A (p.Asp149Glu)	TRIM2 (D122E +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2856522	NM_015271.5(TRIM2):c.167G>T (p.Arg56Leu)	TRIM2 (R29L +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2854333	NM_015271.5(TRIM2):c.879G>T (p.Thr293=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2849279	NM_015271.5(TRIM2):c.1611G>A (p.Val537=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2848840	NM_015271.5(TRIM2):c.849C>T (p.Asn283=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2847616	NM_015271.5(TRIM2):c.796T>C (p.Ser266Pro)	TRIM2 (S153P +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2840224	NM_015271.5(TRIM2):c.1500C>G (p.Ile500Met)	TRIM2 (I473M +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2839813	NM_015271.5(TRIM2):c.404_405delinsTG (p.Thr135Met)	TRIM2 (T126M +5 more)	Indel (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2830773	NM_015271.5(TRIM2):c.216-13G>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2823757	NM_015271.5(TRIM2):c.624T>G (p.Ser208=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2823738	NM_015271.5(TRIM2):c.1871G>T (p.Cys624Phe)	TRIM2 (C472F +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2819244	NM_015271.5(TRIM2):c.832A>G (p.Ile278Val)	TRIM2 (I166V +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2815552	NM_015271.5(TRIM2):c.774C>A (p.Gly258=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2814156	NM_015271.5(TRIM2):c.1924C>T (p.Arg642Ter)	TRIM2 (R529* +11 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2807556	NM_015271.5(TRIM2):c.1952-3C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2805720	NM_015271.5(TRIM2):c.1797A>T (p.Ser599=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2797372	NM_015271.5(TRIM2):c.636C>A (p.Phe212Leu)	TRIM2 (F203L +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2785397	NM_015271.5(TRIM2):c.453+13G>A	TRIM2 (D156N +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2780972	NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2768192	NM_015271.5(TRIM2):c.1113G>C (p.Met371Ile)	TRIM2 (M260I +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2762568	NM_015271.5(TRIM2):c.673G>A (p.Ala225Thr)	TRIM2 (A224T +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2761527	NM_015271.5(TRIM2):c.786+10G>C	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2756658	NM_015271.5(TRIM2):c.937G>A (p.Asp313Asn)	TRIM2 (D286N +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2752997	NM_015271.5(TRIM2):c.2091T>C (p.Asn697=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2752905	NM_015271.5(TRIM2):c.1834C>A (p.Arg612Ser)	TRIM2 (R460S +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2750963	NM_015271.5(TRIM2):c.722C>A (p.Thr241Asn)	TRIM2 (T231N +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2743862	NM_015271.5(TRIM2):c.2303G>A (p.Arg768Gln)	TRIM2 (R656Q +12 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2734677	NM_015271.5(TRIM2):c.307G>A (p.Ala103Thr)	TRIM2 (A103T +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2733637	NM_015271.5(TRIM2):c.605+20del	TRIM2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2732716	NM_015271.5(TRIM2):c.251C>A (p.Thr84Asn)	TRIM2 (T57N +4 more)	Single nucleotide variant (intron variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2727589	NM_015271.5(TRIM2):c.744G>A (p.Val248=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2725495	NM_015271.5(TRIM2):c.842G>A (p.Cys281Tyr)	TRIM2 (C129Y +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2723937	NM_015271.5(TRIM2):c.701C>T (p.Thr234Ile)	TRIM2 (T234I +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2723901	NM_015271.5(TRIM2):c.605+19A>C	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GBenign
Select item 2709906	NM_015271.5(TRIM2):c.111T>A (p.Ser37Arg)	TRIM2 (S27R +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2709779	NM_015271.5(TRIM2):c.1199A>G (p.Asp400Gly)	TRIM2 (D289G +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2706405	NM_015271.5(TRIM2):c.592G>T (p.Ala198Ser)	TRIM2 (A189S +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2706382	NM_015271.5(TRIM2):c.786+9A>G	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2705690	NM_015271.5(TRIM2):c.1080G>C (p.Glu360Asp)	TRIM2 (E247D +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2702998	NM_015271.5(TRIM2):c.2164-14C>G	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2702371	NM_015271.5(TRIM2):c.644A>G (p.Glu215Gly)	TRIM2 (E206G +8 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2527766	NM_015271.5(TRIM2):c.805G>C (p.Asp269His)	TRIM2 (D242H +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2500899	NM_015271.5(TRIM2):c.790del (p.Leu264fs)	TRIM2 (L112fs +11 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2437265	NM_015271.5(TRIM2):c.239C>T (p.Ala80Val)	TRIM2 (A53V +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2419019	NM_015271.5(TRIM2):c.1524A>G (p.Arg508=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2415685	NM_015271.5(TRIM2):c.510G>A (p.Glu170=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2413495	NM_015271.5(TRIM2):c.1952-13A>G	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2199061	NM_015271.5(TRIM2):c.1505G>A (p.Arg502Gln)	TRIM2 (R389Q +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2195242	NM_015271.5(TRIM2):c.2280A>G (p.Gly760=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2193807	NM_015271.5(TRIM2):c.794A>G (p.Gln265Arg)	TRIM2 (Q154R +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2179388	NM_015271.5(TRIM2):c.117G>C (p.Val39=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R +1 more	GLikely benign
Select item 2176884	NM_015271.5(TRIM2):c.787-14C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2174687	NM_015271.5(TRIM2):c.373G>A (p.Ala125Thr)	TRIM2 (A125T +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2172641	NM_015271.5(TRIM2):c.168G>T (p.Arg56=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2167030	NM_015271.5(TRIM2):c.1534G>C (p.Glu512Gln)	TRIM2 (E400Q +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2164513	NM_015271.5(TRIM2):c.1390C>T (p.Arg464Cys)	TRIM2 (R445C +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2160047	NM_015271.5(TRIM2):c.1459A>G (p.Thr487Ala)	TRIM2 (T374A +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2155433	NM_015271.5(TRIM2):c.183G>A (p.Lys61=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2154640	NM_015271.5(TRIM2):c.1603C>A (p.Gln535Lys)	TRIM2 (Q422K +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2148970	NM_015271.5(TRIM2):c.1014C>T (p.Ser338=)	TRIM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign

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