"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNRC6B"[g - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1315562	NM_001024843.2(TNRC6B):c.46G>A (p.Val16Met)	TNRC6B (V16M)	Single nucleotide variant (missense variant)	TNRC6B-related disorder +1 more	GBenign
Select item 3044680	NM_001162501.2(TNRC6B):c.165A>G (p.Pro55=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 2628588	NM_001162501.2(TNRC6B):c.167T>C (p.Ile56Thr)	TNRC6B (I56T +1 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GUncertain significance
Select item 2653168	NM_001162501.2(TNRC6B):c.336A>G (p.Pro112=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder +1 more	GLikely benign
Select item 2653170	NM_001162501.2(TNRC6B):c.425C>T (p.Ala142Val)	TNRC6B (A142V +1 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder +1 more	GBenign/Likely benign
Select item 3038736	NM_001162501.2(TNRC6B):c.622A>G (p.Thr208Ala)	TNRC6B (T208A)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GBenign
Select item 3040730	NM_001162501.2(TNRC6B):c.807A>G (p.Gln269=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 3047283	NM_001162501.2(TNRC6B):c.858T>C (p.Asn286=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 778200	NM_001162501.2(TNRC6B):c.915T>C (p.Asn305=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3051310	NM_001162501.2(TNRC6B):c.1230T>G (p.Pro410=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 3036235	NM_001162501.2(TNRC6B):c.1311C>G (p.Val437=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 2636253	NM_001162501.2(TNRC6B):c.1325A>G (p.Asn442Ser)	TNRC6B (N442S)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GUncertain significance
Select item 3034848	NM_001162501.2(TNRC6B):c.1431C>T (p.Asn477=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 3047939	NM_001162501.2(TNRC6B):c.1592dup (p.Asn532fs)	TNRC6B (N532fs)	Duplication (frameshift variant +1 more)	TNRC6B-related disorder	GLikely pathogenic
Select item 2509022	NM_001162501.2(TNRC6B):c.1612T>C (p.Trp538Arg)	TNRC6B (W538R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3047982	NM_001162501.2(TNRC6B):c.1639C>G (p.Pro547Ala)	TNRC6B (P547A)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GUncertain significance
Select item 3033062	NM_001162501.2(TNRC6B):c.2247G>C (p.Trp749Cys)	TNRC6B (W749C)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 2636472	NM_001162501.2(TNRC6B):c.2258_2260del (p.Val753del)	TNRC6B (V753del)	Deletion (inframe_deletion +1 more)	TNRC6B-related disorder	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 733536	NM_001162501.2(TNRC6B):c.2369G>A (p.Ser790Asn)	TNRC6B (S790N)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder +1 more	GLikely benign
Select item 3061589	NM_001162501.2(TNRC6B):c.2457A>C (p.Gln819His)	TNRC6B (Q819H)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GUncertain significance
Select item 3041261	NM_001162501.2(TNRC6B):c.2517G>A (p.Ser839=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 2653178	NM_001162501.2(TNRC6B):c.2550C>T (p.Asn850=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder +1 more	GLikely benign
Select item 3033100	NM_001162501.2(TNRC6B):c.2609A>C (p.Glu870Ala)	TNRC6B (E870A)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GLikely benign
Select item 2653179	NM_001162501.2(TNRC6B):c.2750G>C (p.Gly917Ala)	TNRC6B (G917A)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder +1 more	GBenign/Likely benign
Select item 3043982	NM_001162501.2(TNRC6B):c.2911T>C (p.Ser971Pro)	TNRC6B (S224P +1 more)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GBenign
Select item 710772	NM_001162501.2(TNRC6B):c.2922C>T (p.Gly974=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder +1 more	GBenign/Likely benign
Select item 3044598	NM_001162501.2(TNRC6B):c.3003C>T (p.Asp1001=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3034506	NM_001162501.2(TNRC6B):c.3211T>C (p.Leu1071=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 2635113	NM_001162501.2(TNRC6B):c.3241A>G (p.Ser1081Gly)	TNRC6B (S1028G +2 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GUncertain significance
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 2637332	NM_001162501.2(TNRC6B):c.3564A>C (p.Gln1188His)	TNRC6B (Q1188H)	Single nucleotide variant (missense variant +1 more)	TNRC6B-related disorder	GUncertain significance
Select item 3032011	NM_001162501.2(TNRC6B):c.3637A>G (p.Thr1213Ala)	TNRC6B (T1103A +2 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GUncertain significance
Select item 3051414	NM_001162501.2(TNRC6B):c.3717C>T (p.Ala1239=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3045492	NM_001162501.2(TNRC6B):c.3936+7G>C	TNRC6B	Single nucleotide variant (intron variant)	TNRC6B-related disorder	GLikely benign
Select item 2577347	NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)	TNRC6B	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3036565	NM_001162501.2(TNRC6B):c.4035G>A (p.Pro1345=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3048926	NM_001162501.2(TNRC6B):c.4054C>T (p.Pro1352Ser)	TNRC6B (P1242S +2 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GLikely benign
Select item 2222098	NM_001162501.2(TNRC6B):c.4121-3del	TNRC6B	Deletion (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2632876	NM_001162501.2(TNRC6B):c.4379A>C (p.Lys1460Thr)	TNRC6B (K1350T +2 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GUncertain significance
Select item 738673	NM_001162501.2(TNRC6B):c.4416C>T (p.Ser1472=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3034189	NM_001162501.2(TNRC6B):c.4560A>G (p.Gln1520=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3057116	NM_001162501.2(TNRC6B):c.4569G>C (p.Arg1523=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3035862	NM_001162501.2(TNRC6B):c.4584G>A (p.Gly1528=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3053855	NM_001162501.2(TNRC6B):c.4608G>A (p.Ser1536=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
Select item 3031529	NM_001162501.2(TNRC6B):c.4868G>C (p.Arg1623Thr)	TNRC6B (R1513T +2 more)	Single nucleotide variant (missense variant)	TNRC6B-related disorder	GUncertain significance
Select item 3046002	NM_001162501.2(TNRC6B):c.5274C>T (p.Pro1758=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign

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Items: 48