29318[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2217060	NM_001142640.2(TNRC6C):c.655A>G (p.Asn219Asp)	TNRC6C (N219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180775	NM_001142640.2(TNRC6C):c.701A>G (p.Asn234Ser)	TNRC6C (N234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180776	NM_001142640.2(TNRC6C):c.712G>A (p.Val238Ile)	TNRC6C (V238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180733	NM_001142640.2(TNRC6C):c.775G>T (p.Ala259Ser)	TNRC6C (A49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359384	NM_001142640.2(TNRC6C):c.823T>C (p.Cys275Arg)	TNRC6C (C275R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278753	NM_001142640.2(TNRC6C):c.841G>A (p.Asp281Asn)	TNRC6C (D281N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467360	NM_001142640.2(TNRC6C):c.851T>C (p.Met284Thr)	TNRC6C (M284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407859	NM_001142640.2(TNRC6C):c.865G>A (p.Gly289Arg)	TNRC6C (G289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648333	NM_001142640.2(TNRC6C):c.875G>A (p.Arg292Lys)	TNRC6C (R292K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327772	NM_001142640.2(TNRC6C):c.908A>G (p.Asn303Ser)	TNRC6C (N303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180754	NM_001142640.2(TNRC6C):c.976G>A (p.Gly326Arg)	TNRC6C (G326R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180755	NM_001142640.2(TNRC6C):c.982G>A (p.Val328Met)	TNRC6C (V328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364823	NM_001142640.2(TNRC6C):c.1013G>T (p.Ser338Ile)	TNRC6C (S338I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180760	NM_001142640.2(TNRC6C):c.1018G>A (p.Val340Ile)	TNRC6C (V340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354141	NM_001142640.2(TNRC6C):c.1043G>A (p.Gly348Asp)	TNRC6C (G138D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180765	NM_001142640.2(TNRC6C):c.1054G>A (p.Gly352Arg)	TNRC6C (G142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180766	NM_001142640.2(TNRC6C):c.1055G>T (p.Gly352Val)	TNRC6C (G352V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539143	NM_001142640.2(TNRC6C):c.1063A>T (p.Thr355Ser)	TNRC6C (T145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180772	NM_001142640.2(TNRC6C):c.1150G>A (p.Ala384Thr)	TNRC6C (A174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180773	NM_001142640.2(TNRC6C):c.1175A>G (p.Asp392Gly)	TNRC6C (D182G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335842	NM_001142640.2(TNRC6C):c.1198A>G (p.Met400Val)	TNRC6C (M190V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457101	NM_001142640.2(TNRC6C):c.1214A>G (p.Asn405Ser)	TNRC6C (N195S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327773	NM_001142640.2(TNRC6C):c.1258A>G (p.Met420Val)	TNRC6C (M210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327761	NM_001142640.2(TNRC6C):c.1321T>A (p.Ser441Thr)	TNRC6C (S231T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025162	NM_001142640.2(TNRC6C):c.1367A>G (p.Asn456Ser)	TNRC6C (N246S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333214	NM_001142640.2(TNRC6C):c.1373T>C (p.Val458Ala)	TNRC6C (V248A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207723	NM_001142640.2(TNRC6C):c.1445C>T (p.Thr482Ile)	TNRC6C (T272I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327762	NM_001142640.2(TNRC6C):c.1508G>A (p.Ser503Asn)	TNRC6C (S293N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3327764	NM_001142640.2(TNRC6C):c.1514G>C (p.Gly505Ala)	TNRC6C (G295A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327765	NM_001142640.2(TNRC6C):c.1517A>G (p.Asn506Ser)	TNRC6C (N296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379951	NM_001142640.2(TNRC6C):c.1537C>T (p.Pro513Ser)	TNRC6C (P513S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350734	NM_001142640.2(TNRC6C):c.1583A>G (p.Asn528Ser)	TNRC6C (N528S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180777	NM_001142640.2(TNRC6C):c.1621C>G (p.Pro541Ala)	TNRC6C (P541A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816806	NM_001142640.2(TNRC6C):c.1652G>A (p.Gly551Glu)	TNRC6C (G341E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2203817	NM_001142640.2(TNRC6C):c.1729A>G (p.Ser577Gly)	TNRC6C (S577G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488139	NM_001142640.2(TNRC6C):c.1735A>G (p.Thr579Ala)	TNRC6C (T579A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327751	NM_001142640.2(TNRC6C):c.1753G>A (p.Val585Ile)	TNRC6C (V585I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611907	NM_001142640.2(TNRC6C):c.1758G>T (p.Gln586His)	TNRC6C (Q376H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180729	NM_001142640.2(TNRC6C):c.1856G>T (p.Gly619Val)	TNRC6C (G409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180730	NM_001142640.2(TNRC6C):c.1873G>C (p.Gly625Arg)	TNRC6C (G415R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327757	NM_001142640.2(TNRC6C):c.1877C>T (p.Thr626Met)	TNRC6C (T416M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369555	NM_001142640.2(TNRC6C):c.1889G>A (p.Arg630Gln)	TNRC6C (R630Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180731	NM_001142640.2(TNRC6C):c.1984A>G (p.Thr662Ala)	TNRC6C (T452A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267882	NM_001142640.2(TNRC6C):c.2035G>A (p.Glu679Lys)	TNRC6C (E469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180732	NM_001142640.2(TNRC6C):c.2042A>T (p.Lys681Ile)	TNRC6C (K681I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391606	NM_001142640.2(TNRC6C):c.2092A>G (p.Asn698Asp)	TNRC6C (N488D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180734	NM_001142640.2(TNRC6C):c.2099G>A (p.Gly700Glu)	TNRC6C (G490E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468185	NM_001142640.2(TNRC6C):c.2099G>T (p.Gly700Val)	TNRC6C (G490V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354319	NM_001142640.2(TNRC6C):c.2126A>G (p.Asn709Ser)	TNRC6C (N499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327771	NM_001142640.2(TNRC6C):c.2128A>G (p.Ser710Gly)	TNRC6C (S710G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327108	NM_001142640.2(TNRC6C):c.2164G>A (p.Ala722Thr)	TNRC6C (A512T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275105	NM_001142640.2(TNRC6C):c.2176G>A (p.Ala726Thr)	TNRC6C (A726T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180735	NM_001142640.2(TNRC6C):c.2192C>A (p.Thr731Lys)	TNRC6C (T731K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295836	NM_001142640.2(TNRC6C):c.2204A>G (p.Asp735Gly)	TNRC6C (D525G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349329	NM_001142640.2(TNRC6C):c.2219C>T (p.Ala740Val)	TNRC6C (A530V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180736	NM_001142640.2(TNRC6C):c.2236G>C (p.Val746Leu)	TNRC6C (V536L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252204	NM_001142640.2(TNRC6C):c.2253A>G (p.Ile751Met)	TNRC6C (I541M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378546	NM_001142640.2(TNRC6C):c.2267T>G (p.Val756Gly)	TNRC6C (V756G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369430	NM_001142640.2(TNRC6C):c.2314G>A (p.Ala772Thr)	TNRC6C (A772T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468060	NM_001142640.2(TNRC6C):c.2339C>T (p.Thr780Ile)	TNRC6C (T570I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267300	NM_001142640.2(TNRC6C):c.2417G>A (p.Gly806Glu)	TNRC6C (G806E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304261	NM_001142640.2(TNRC6C):c.2467A>G (p.Lys823Glu)	TNRC6C (K613E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277292	NM_001142640.2(TNRC6C):c.2503A>G (p.Arg835Gly)	TNRC6C (R625G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327766	NM_001142640.2(TNRC6C):c.2531C>T (p.Thr844Met)	TNRC6C (T634M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368975	NM_001142640.2(TNRC6C):c.2559C>A (p.Asn853Lys)	TNRC6C (N643K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180737	NM_001142640.2(TNRC6C):c.2595G>C (p.Trp865Cys)	TNRC6C (W655C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319784	NM_001142640.2(TNRC6C):c.2595G>T (p.Trp865Cys)	TNRC6C (W655C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481011	NM_001142640.2(TNRC6C):c.2602A>C (p.Thr868Pro)	TNRC6C (T658P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263477	NM_001142640.2(TNRC6C):c.2614G>A (p.Gly872Ser)	TNRC6C (G662S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298990	NM_001142640.2(TNRC6C):c.2637C>G (p.Ser879Arg)	TNRC6C (S669R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621395	NM_001142640.2(TNRC6C):c.2681C>T (p.Ser894Phe)	TNRC6C (S684F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246562	NM_001142640.2(TNRC6C):c.2683G>A (p.Val895Met)	TNRC6C (V685M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180738	NM_001142640.2(TNRC6C):c.2699C>T (p.Thr900Ile)	TNRC6C (T900I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327755	NM_001142640.2(TNRC6C):c.2717C>T (p.Pro906Leu)	TNRC6C (P696L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570011	NM_001142640.2(TNRC6C):c.2723C>T (p.Pro908Leu)	TNRC6C (P698L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327758	NM_001142640.2(TNRC6C):c.2725G>A (p.Val909Ile)	TNRC6C (V699I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180739	NM_001142640.2(TNRC6C):c.2735A>G (p.Lys912Arg)	TNRC6C (K912R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332897	NM_001142640.2(TNRC6C):c.2736G>T (p.Lys912Asn)	TNRC6C (K702N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180740	NM_001142640.2(TNRC6C):c.2798A>G (p.Glu933Gly)	TNRC6C (E723G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487487	NM_001142640.2(TNRC6C):c.2823G>C (p.Trp941Cys)	TNRC6C (W941C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180742	NM_001142640.2(TNRC6C):c.2879C>A (p.Pro960Gln)	TNRC6C (P750Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232150	NM_001142640.2(TNRC6C):c.2918C>G (p.Thr973Ser)	TNRC6C (T973S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180743	NM_001142640.2(TNRC6C):c.2933C>T (p.Thr978Met)	TNRC6C (T768M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264649	NM_001142640.2(TNRC6C):c.2938A>G (p.Asn980Asp)	TNRC6C (N770D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180744	NM_001142640.2(TNRC6C):c.2960C>T (p.Thr987Met)	TNRC6C (T777M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648334	NM_001142640.2(TNRC6C):c.2996G>T (p.Arg999Leu)	TNRC6C (R789L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305833	NM_001142640.2(TNRC6C):c.3002C>T (p.Pro1001Leu)	TNRC6C (P791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180745	NM_001142640.2(TNRC6C):c.3113C>T (p.Thr1038Ile)	TNRC6C (T1038I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180747	NM_001142640.2(TNRC6C):c.3133C>G (p.Pro1045Ala)	TNRC6C (P838A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394101	NM_001142640.2(TNRC6C):c.3162C>A (p.His1054Gln)	TNRC6C (H844Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648335	NM_001142640.2(TNRC6C):c.3249A>G (p.Gln1083=)	TNRC6C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3180748	NM_001142640.2(TNRC6C):c.3250G>A (p.Glu1084Lys)	TNRC6C (E1084K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329136	NM_001142640.2(TNRC6C):c.3337T>C (p.Ser1113Pro)	TNRC6C (S903P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396754	NM_001142640.2(TNRC6C):c.3341A>G (p.Gln1114Arg)	TNRC6C (Q1114R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518262	NM_001142640.2(TNRC6C):c.3345A>C (p.Glu1115Asp)	TNRC6C (E908D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180749	NM_001142640.2(TNRC6C):c.3346A>G (p.Ser1116Gly)	TNRC6C (S1116G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180750	NM_001142640.2(TNRC6C):c.3515A>G (p.Asn1172Ser)	TNRC6C (N965S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180751	NM_001142640.2(TNRC6C):c.3574C>T (p.Arg1192Cys)	TNRC6C (R982C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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