"GeneDx"[submitter] AND "TNRC6B"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1315562	NM_001024843.2(TNRC6B):c.46G>A (p.Val16Met)	TNRC6B (V16M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2574308	NM_001024843.2(TNRC6B):c.55G>T (p.Glu19Ter)	TNRC6B (E19*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1700893	NM_001162501.2(TNRC6B):c.6-3T>A	TNRC6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3343288	NM_001162501.2(TNRC6B):c.109A>G (p.Thr37Ala)	TNRC6B (T37A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253187	NM_001162501.2(TNRC6B):c.121G>T (p.Glu41Ter)	TNRC6B (E41* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1316495	NM_001162501.2(TNRC6B):c.215G>A (p.Arg72Lys)	TNRC6B (R108K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573968	NM_001162501.2(TNRC6B):c.235C>A (p.Gln79Lys)	TNRC6B (Q115K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446067	NM_001162501.2(TNRC6B):c.260T>C (p.Met87Thr)	TNRC6B (M123T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878934	NM_001162501.2(TNRC6B):c.263C>T (p.Pro88Leu)	TNRC6B (P124L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809940	NM_001162501.2(TNRC6B):c.332C>A (p.Pro111His)	TNRC6B (P111H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800806	NM_001162501.2(TNRC6B):c.437G>A (p.Ser146Asn)	TNRC6B (S146N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581736	NM_001162501.2(TNRC6B):c.587A>T (p.Asp196Val)	TNRC6B (D196V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497995	NM_001162501.2(TNRC6B):c.640A>G (p.Asn214Asp)	TNRC6B (N214D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572864	NM_001162501.2(TNRC6B):c.756C>G (p.Asn252Lys)	TNRC6B (N252K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321821	NM_001162501.2(TNRC6B):c.792G>A (p.Lys264=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321045	NM_001162501.2(TNRC6B):c.933G>A (p.Trp311Ter)	TNRC6B (W311*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1706350	NM_001162501.2(TNRC6B):c.1010G>A (p.Ser337Asn)	TNRC6B (S337N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363318	NM_001162501.2(TNRC6B):c.1084A>G (p.Arg362Gly)	TNRC6B (R362G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579964	NM_001162501.2(TNRC6B):c.1249C>T (p.Arg417Ter)	TNRC6B (R417*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1700550	NM_001162501.2(TNRC6B):c.1289G>A (p.Gly430Glu)	TNRC6B (G430E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1316394	NM_001162501.2(TNRC6B):c.1309G>A (p.Val437Ile)	TNRC6B (V437I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504206	NM_001162501.2(TNRC6B):c.1359_1362del (p.Glu454fs)	TNRC6B (E454fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2499705	NM_001162501.2(TNRC6B):c.1471T>C (p.Ser491Pro)	TNRC6B (S491P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364202	NM_001162501.2(TNRC6B):c.1716A>T (p.Gln572His)	TNRC6B (Q572H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315976	NM_001162501.2(TNRC6B):c.1822_1823del (p.Leu608fs)	TNRC6B (L608fs)	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2430675	NM_001162501.2(TNRC6B):c.1829G>A (p.Arg610Gln)	TNRC6B (R610Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1325802	NM_001162501.2(TNRC6B):c.2039G>A (p.Trp680Ter)	TNRC6B (W680*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1318949	NM_001162501.2(TNRC6B):c.2043G>T (p.Gly681=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3365001	NM_001162501.2(TNRC6B):c.2114A>T (p.Asn705Ile)	TNRC6B (N705I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571746	NM_001162501.2(TNRC6B):c.2185G>C (p.Asp729His)	TNRC6B (D729H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318824	NM_001162501.2(TNRC6B):c.2273dup (p.Asn758fs)	TNRC6B (N758fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1702831	NM_001162501.2(TNRC6B):c.2617A>G (p.Ser873Gly)	TNRC6B (S873G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573693	NM_001162501.2(TNRC6B):c.2716A>T (p.Asn906Tyr)	TNRC6B (N906Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663281	NM_001162501.2(TNRC6B):c.2990G>A (p.Trp997Ter)	TNRC6B (W250* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1703331	NM_001162501.2(TNRC6B):c.2992G>C (p.Gly998Arg)	TNRC6B (G251R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315764	NM_001162501.2(TNRC6B):c.3036G>A (p.Trp1012Ter)	TNRC6B (W1012* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1320508	NM_001162501.2(TNRC6B):c.3064_3068dup (p.Gly1025fs)	TNRC6B (G1025fs +2 more)	Duplication (frameshift variant)	Global developmental delay with speech and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2663013	NM_001162501.2(TNRC6B):c.3098A>G (p.His1033Arg)	TNRC6B (H1033R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574295	NM_001162501.2(TNRC6B):c.3115G>C (p.Gly1039Arg)	TNRC6B (G1039R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502785	NM_001162501.2(TNRC6B):c.3115G>A (p.Gly1039Arg)	TNRC6B (G1039R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574530	NM_001162501.2(TNRC6B):c.3125G>C (p.Gly1042Ala)	TNRC6B (G1042A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329609	NM_001162501.2(TNRC6B):c.3153A>T (p.Lys1051Asn)	TNRC6B (K1051N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318793	NM_001162501.2(TNRC6B):c.3175A>G (p.Met1059Val)	TNRC6B (M1006V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582142	NM_001162501.2(TNRC6B):c.3282A>C (p.Lys1094Asn)	TNRC6B (K1041N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342079	NM_001162501.2(TNRC6B):c.3332T>C (p.Met1111Thr)	TNRC6B (M1058T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443665	NM_001162501.2(TNRC6B):c.3383C>G (p.Thr1128Ser)	TNRC6B (T1075S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801187	NM_001162501.2(TNRC6B):c.3460C>G (p.Pro1154Ala)	TNRC6B (P1154A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253188	NM_001162501.2(TNRC6B):c.3575C>T (p.Ala1192Val)	TNRC6B (A1192V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579907	NM_001162501.2(TNRC6B):c.3602T>C (p.Phe1201Ser)	TNRC6B (F1091S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283079	NM_001162501.2(TNRC6B):c.3708+14C>T	TNRC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503240	NM_001162501.2(TNRC6B):c.3802A>G (p.Met1268Val)	TNRC6B (M1158V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507137	NM_001162501.2(TNRC6B):c.3837G>C (p.Gln1279His)	TNRC6B (Q1169H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573932	NM_001162501.2(TNRC6B):c.3838T>A (p.Leu1280Met)	TNRC6B (L1170M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331298	NM_001162501.2(TNRC6B):c.3887A>G (p.Gln1296Arg)	TNRC6B (Q1186R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316777	NM_001162501.2(TNRC6B):c.3999G>C (p.Met1333Ile)	TNRC6B (M1223I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338922	NM_001162501.2(TNRC6B):c.4027C>T (p.Pro1343Ser)	TNRC6B (P1233S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571673	NM_001162501.2(TNRC6B):c.4204A>G (p.Met1402Val)	TNRC6B (M1292V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580464	NM_001162501.2(TNRC6B):c.4274C>T (p.Pro1425Leu)	TNRC6B (P1315L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446636	NM_001162501.2(TNRC6B):c.4352C>T (p.Pro1451Leu)	TNRC6B (P1341L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342830	NM_001162501.2(TNRC6B):c.4418A>G (p.Asn1473Ser)	TNRC6B (N1363S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699732	NM_001162501.2(TNRC6B):c.4479C>G (p.Asp1493Glu)	TNRC6B (D1383E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205080	NM_001162501.2(TNRC6B):c.4551_4554del (p.Asp1518fs)	TNRC6B (D1408fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1343848	NM_001162501.2(TNRC6B):c.4774T>A (p.Ser1592Thr)	TNRC6B (S1482T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572763	NM_001162501.2(TNRC6B):c.4901C>T (p.Ser1634Leu)	TNRC6B (S1524L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700781	NM_001162501.2(TNRC6B):c.4974+2T>A	TNRC6B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1318787	NM_001162501.2(TNRC6B):c.5201C>T (p.Thr1734Ile)	TNRC6B (T1624I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576880	NM_001162501.2(TNRC6B):c.5237G>A (p.Trp1746Ter)	TNRC6B (W1636* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2136136	NM_001162501.2(TNRC6B):c.5303G>A (p.Gly1768Glu)	TNRC6B (G1658E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806497	NM_001162501.2(TNRC6B):c.5318G>T (p.Gly1773Val)	TNRC6B (G1663V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444649	NM_001162501.2(TNRC6B):c.5365G>A (p.Gly1789Ser)	TNRC6B (G1679S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 3362182	NM_001162501.2(TNRC6B):c.928G>C (p.Ala310Pro)	TNRC6B (A310P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361741	NM_001162501.2(TNRC6B):c.2845A>G (p.Thr949Ala)	TNRC6B (T202A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361607	NM_001162501.2(TNRC6B):c.4243A>C (p.Asn1415His)	TNRC6B (N1305H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360143	NM_001162501.2(TNRC6B):c.3037G>A (p.Glu1013Lys)	TNRC6B (E1013K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359952	NM_001162501.2(TNRC6B):c.1514G>C (p.Gly505Ala)	TNRC6B (G505A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359593	NM_001162501.2(TNRC6B):c.374C>G (p.Pro125Arg)	TNRC6B (P125R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359266	NM_001162501.2(TNRC6B):c.3787C>A (p.Pro1263Thr)	TNRC6B (P1153T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 81