"Ambry Genetics"[submitter] AND "TNRC6B"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291042	NM_001024843.2(TNRC6B):c.83A>G (p.Lys28Arg)	TNRC6B (K28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400570	NM_001162501.2(TNRC6B):c.166A>G (p.Ile56Val)	TNRC6B (I56V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475163	NM_001162501.2(TNRC6B):c.347T>A (p.Met116Lys)	TNRC6B (M116K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308226	NM_001162501.2(TNRC6B):c.401C>G (p.Pro134Arg)	TNRC6B (P170R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568592	NM_001162501.2(TNRC6B):c.496A>G (p.Asn166Asp)	TNRC6B (N166D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331837	NM_001162501.2(TNRC6B):c.520T>G (p.Ser174Ala)	TNRC6B (S174A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217139	NM_001162501.2(TNRC6B):c.532G>A (p.Gly178Ser)	TNRC6B (G178S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393029	NM_001162501.2(TNRC6B):c.580G>A (p.Gly194Arg)	TNRC6B (G194R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594314	NM_001162501.2(TNRC6B):c.1027T>G (p.Ser343Ala)	TNRC6B (S343A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2231377	NM_001162501.2(TNRC6B):c.1028C>G (p.Ser343Cys)	TNRC6B (S343C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472644	NM_001162501.2(TNRC6B):c.1058C>A (p.Ala353Glu)	TNRC6B (A353E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386998	NM_001162501.2(TNRC6B):c.1067A>T (p.Asn356Ile)	TNRC6B (N356I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2333054	NM_001162501.2(TNRC6B):c.1103A>G (p.His368Arg)	TNRC6B (H368R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2334344	NM_001162501.2(TNRC6B):c.1307C>G (p.Thr436Arg)	TNRC6B (T436R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301469	NM_001162501.2(TNRC6B):c.1334A>T (p.Asn445Ile)	TNRC6B (N445I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613573	NM_001162501.2(TNRC6B):c.1354G>C (p.Glu452Gln)	TNRC6B (E452Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513290	NM_001162501.2(TNRC6B):c.1391A>C (p.Lys464Thr)	TNRC6B (K464T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2320118	NM_001162501.2(TNRC6B):c.1481A>G (p.Asn494Ser)	TNRC6B (N494S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380020	NM_001162501.2(TNRC6B):c.1549T>C (p.Ser517Pro)	TNRC6B (S517P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2509022	NM_001162501.2(TNRC6B):c.1612T>C (p.Trp538Arg)	TNRC6B (W538R)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related condition +1 more	GLikely benign
Select item 2222816	NM_001162501.2(TNRC6B):c.1666C>T (p.Pro556Ser)	TNRC6B (P556S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2604811	NM_001162501.2(TNRC6B):c.1813C>T (p.Gln605Ter)	TNRC6B (Q605*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2517968	NM_001162501.2(TNRC6B):c.1827C>A (p.Ser609Arg)	TNRC6B (S609R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227669	NM_001162501.2(TNRC6B):c.1931G>A (p.Gly644Glu)	TNRC6B (G644E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2321458	NM_001162501.2(TNRC6B):c.1966G>A (p.Ala656Thr)	TNRC6B (A656T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2298679	NM_001162501.2(TNRC6B):c.2044G>A (p.Glu682Lys)	TNRC6B (E682K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555640	NM_001162501.2(TNRC6B):c.2092T>G (p.Trp698Gly)	TNRC6B (W698G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333656	NM_001162501.2(TNRC6B):c.2117C>A (p.Ser706Tyr)	TNRC6B (S706Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253616	NM_001162501.2(TNRC6B):c.2135G>A (p.Gly712Glu)	TNRC6B (G712E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985172	NM_001162501.2(TNRC6B):c.2137C>T (p.Arg713Ter)	TNRC6B (R713*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2230323	NM_001162501.2(TNRC6B):c.2188C>G (p.Gln730Glu)	TNRC6B (Q730E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460337	NM_001162501.2(TNRC6B):c.2212C>T (p.Pro738Ser)	TNRC6B (P738S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328345	NM_001162501.2(TNRC6B):c.2216A>G (p.Asn739Ser)	TNRC6B (N739S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346925	NM_001162501.2(TNRC6B):c.2306T>C (p.Val769Ala)	TNRC6B (V769A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2242113	NM_001162501.2(TNRC6B):c.2360G>C (p.Gly787Ala)	TNRC6B (G787A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247417	NM_001162501.2(TNRC6B):c.2371C>A (p.Leu791Ile)	TNRC6B (L791I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2398033	NM_001162501.2(TNRC6B):c.2548A>G (p.Asn850Asp)	TNRC6B (N850D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2318908	NM_001162501.2(TNRC6B):c.2734A>G (p.Lys912Glu)	TNRC6B (K912E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2218339	NM_001162501.2(TNRC6B):c.2744A>G (p.Gln915Arg)	TNRC6B (Q915R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2331749	NM_001162501.2(TNRC6B):c.2864C>T (p.Pro955Leu)	TNRC6B (P955L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515201	NM_001162501.2(TNRC6B):c.2938G>A (p.Ala980Thr)	TNRC6B (A233T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2258983	NM_001162501.2(TNRC6B):c.3242G>A (p.Ser1081Asn)	TNRC6B (S1028N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2359230	NM_001162501.2(TNRC6B):c.3415A>T (p.Thr1139Ser)	TNRC6B (T1139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2263969	NM_001162501.2(TNRC6B):c.3458C>G (p.Ala1153Gly)	TNRC6B (A1153G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307585	NM_001162501.2(TNRC6B):c.3545G>A (p.Gly1182Asp)	TNRC6B (G1182D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277979	NM_001162501.2(TNRC6B):c.3643G>A (p.Val1215Met)	TNRC6B (V411M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294214	NM_001162501.2(TNRC6B):c.3661T>C (p.Ser1221Pro)	TNRC6B (S1111P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521928	NM_001162501.2(TNRC6B):c.3667A>G (p.Ser1223Gly)	TNRC6B (S1223G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533119	NM_001162501.2(TNRC6B):c.3767A>G (p.Asn1256Ser)	TNRC6B (N1146S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985346	NM_001162501.2(TNRC6B):c.3811C>T (p.Gln1271Ter)	TNRC6B (Q1161* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2356708	NM_001162501.2(TNRC6B):c.3961CAG[9] (p.Gln1328_Arg1329insGln)	TNRC6B	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 2485458	NM_001162501.2(TNRC6B):c.4028C>T (p.Pro1343Leu)	TNRC6B (P1233L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568747	NM_001162501.2(TNRC6B):c.4058A>G (p.Asn1353Ser)	TNRC6B (N549S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358934	NM_001162501.2(TNRC6B):c.4099C>G (p.Pro1367Ala)	TNRC6B (P1257A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222098	NM_001162501.2(TNRC6B):c.4121-3del	TNRC6B	Deletion (intron variant)	TNRC6B-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2483257	NM_001162501.2(TNRC6B):c.4126A>G (p.Ser1376Gly)	TNRC6B (S1266G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300473	NM_001162501.2(TNRC6B):c.4180T>A (p.Ser1394Thr)	TNRC6B (S1394T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354407	NM_001162501.2(TNRC6B):c.4264A>G (p.Ile1422Val)	TNRC6B (I1312V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600751	NM_001162501.2(TNRC6B):c.4364G>C (p.Ser1455Thr)	TNRC6B (S1455T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332921	NM_001162501.2(TNRC6B):c.4522G>T (p.Gly1508Cys)	TNRC6B (G1508C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985913	NM_001162501.2(TNRC6B):c.4583-2A>G	TNRC6B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2311441	NM_001162501.2(TNRC6B):c.4727A>G (p.His1576Arg)	TNRC6B (H1576R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313018	NM_001162501.2(TNRC6B):c.4739A>C (p.His1580Pro)	TNRC6B (H1470P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261038	NM_001162501.2(TNRC6B):c.4790C>A (p.Pro1597Gln)	TNRC6B (P1597Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386388	NM_001162501.2(TNRC6B):c.4820A>C (p.Asn1607Thr)	TNRC6B (N803T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548296	NM_001162501.2(TNRC6B):c.4943A>G (p.Tyr1648Cys)	TNRC6B (Y1538C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481063	NM_001162501.2(TNRC6B):c.5163T>A (p.Asp1721Glu)	TNRC6B (D1611E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481064	NM_001162501.2(TNRC6B):c.5165A>T (p.Glu1722Val)	TNRC6B (E1612V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331040	NM_001162501.2(TNRC6B):c.5203C>T (p.Pro1735Ser)	TNRC6B (P931S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219240	NM_001162501.2(TNRC6B):c.5243C>T (p.Ser1748Leu)	TNRC6B (S944L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255081	NM_001162501.2(TNRC6B):c.5335G>A (p.Ala1779Thr)	TNRC6B (A1669T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220640	NM_001162501.2(TNRC6B):c.5368G>A (p.Ala1790Thr)	TNRC6B (A1790T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 72