ClinVar for Gene (Select 23112) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 361

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255082	NM_001162501.2(TNRC6B):c.2890G>T (p.Glu964Ter)	TNRC6B (E217* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3255081	NM_001162501.2(TNRC6B):c.3193_3194del (p.Gln1065fs)	TNRC6B (Q1012fs +2 more)	Deletion (frameshift variant)	Global developmental delay with speech and behavioral abnormalities	GPathogenic
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 3253187	NM_001162501.2(TNRC6B):c.121G>T (p.Glu41Ter)	TNRC6B (E41* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3251048	NM_001162501.2(TNRC6B):c.1744AGT[3] (p.Ser583_Asp584insSer)	TNRC6B	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3250932	NM_001162501.2(TNRC6B):c.4318A>G (p.Ile1440Val)	TNRC6B (I1330V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3242196	NM_001162501.2(TNRC6B):c.777G>A (p.Trp259Ter)	TNRC6B (W259*)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 3239468	NM_001162501.2(TNRC6B):c.1687A>G (p.Ser563Gly)	TNRC6B (S563G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239283	NM_001162501.2(TNRC6B):c.2269A>G (p.Lys757Glu)	TNRC6B (K757E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3237365	NM_001162501.2(TNRC6B):c.4717C>G (p.Pro1573Ala)	TNRC6B (P1463A +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3236429	NM_001162501.2(TNRC6B):c.3446T>C (p.Leu1149Pro)	TNRC6B (L1149P)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3235798	NM_001162501.2(TNRC6B):c.3141G>A (p.Lys1047=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3233316	NM_001162501.2(TNRC6B):c.3461C>G (p.Pro1154Arg)	TNRC6B (P1154R)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3180728	NM_001162501.2(TNRC6B):c.988A>G (p.Ser330Gly)	TNRC6B (S330G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180727	NM_001162501.2(TNRC6B):c.878T>C (p.Ile293Thr)	TNRC6B (I293T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3180726	NM_001162501.2(TNRC6B):c.649G>A (p.Asp217Asn)	TNRC6B (D217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180725	NM_001162501.2(TNRC6B):c.5321A>G (p.Gln1774Arg)	TNRC6B (Q970R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180724	NM_001162501.2(TNRC6B):c.4528G>A (p.Ala1510Thr)	TNRC6B (A1400T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180723	NM_001162501.2(TNRC6B):c.4247T>C (p.Met1416Thr)	TNRC6B (M1306T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180722	NM_001162501.2(TNRC6B):c.4120+1G>T	TNRC6B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3180721	NM_001162501.2(TNRC6B):c.409G>A (p.Ala137Thr)	TNRC6B (A137T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180720	NM_001162501.2(TNRC6B):c.397A>G (p.Asn133Asp)	TNRC6B (N169D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180719	NM_001162501.2(TNRC6B):c.3331A>G (p.Met1111Val)	TNRC6B (M364V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180718	NM_001162501.2(TNRC6B):c.3302C>T (p.Ala1101Val)	TNRC6B (A1048V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180717	NM_001162501.2(TNRC6B):c.3152A>G (p.Lys1051Arg)	TNRC6B (K304R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180716	NM_001162501.2(TNRC6B):c.2963C>T (p.Pro988Leu)	TNRC6B (P241L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180715	NM_001162501.2(TNRC6B):c.2795A>C (p.Lys932Thr)	TNRC6B (K932T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180714	NM_001162501.2(TNRC6B):c.2486C>T (p.Pro829Leu)	TNRC6B (P829L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180713	NM_001162501.2(TNRC6B):c.2082C>A (p.Asn694Lys)	TNRC6B (N694K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180712	NM_001162501.2(TNRC6B):c.1541C>T (p.Pro514Leu)	TNRC6B (P514L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180711	NM_001162501.2(TNRC6B):c.1381T>C (p.Ser461Pro)	TNRC6B (S461P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180710	NM_001162501.2(TNRC6B):c.1249C>G (p.Arg417Gly)	TNRC6B (R417G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3180709	NM_001162501.2(TNRC6B):c.1189G>A (p.Gly397Arg)	TNRC6B (G397R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068944	NM_001162501.2(TNRC6B):c.3141+15_3141+24delinsG	TNRC6B	Indel (intron variant)	not specified	GLikely benign
Select item 3067383	NM_001162501.2(TNRC6B):c.1032G>A (p.Arg344=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3065477	NM_001162501.2(TNRC6B):c.115+5G>T	TNRC6B	Single nucleotide variant (intron variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3065158	NM_001162501.2(TNRC6B):c.880G>A (p.Gly294Arg)	TNRC6B (G294R)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3065049	NM_001162501.2(TNRC6B):c.2615C>T (p.Pro872Leu)	TNRC6B (P872L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3063706	NM_001162501.2(TNRC6B):c.4577C>G (p.Thr1526Ser)	TNRC6B (T1416S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063691	NM_001162501.2(TNRC6B):c.5191C>G (p.Gln1731Glu)	TNRC6B (Q1621E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063570	NM_001162501.2(TNRC6B):c.5306C>A (p.Ser1769Tyr)	TNRC6B (S1659Y +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
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 3057116	NM_001162501.2(TNRC6B):c.4569G>C (p.Arg1523=)	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 3051414	NM_001162501.2(TNRC6B):c.3717C>T (p.Ala1239=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely 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 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 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 3047939	NM_001162501.2(TNRC6B):c.1592dup (p.Asn532fs)	TNRC6B (N532fs)	Duplication (frameshift variant +1 more)	TNRC6B-related disorder	GLikely pathogenic
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 3046002	NM_001162501.2(TNRC6B):c.5274C>T (p.Pro1758=)	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 3044680	NM_001162501.2(TNRC6B):c.165A>G (p.Pro55=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely 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 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 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 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 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 3036565	NM_001162501.2(TNRC6B):c.4035G>A (p.Pro1345=)	TNRC6B	Single nucleotide variant (synonymous variant)	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 3035862	NM_001162501.2(TNRC6B):c.4584G>A (p.Gly1528=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
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 3034506	NM_001162501.2(TNRC6B):c.3211T>C (p.Leu1071=)	TNRC6B	Single nucleotide variant (synonymous variant)	TNRC6B-related disorder	GLikely benign
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 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 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 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 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 3026408	NM_001162501.2(TNRC6B):c.1519T>G (p.Ser507Ala)	TNRC6B (S507A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026333	NM_001162501.2(TNRC6B):c.3628G>A (p.Gly1210Ser)	TNRC6B (G1100S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026122	NM_001162501.2(TNRC6B):c.108A>C (p.Lys36Asn)	TNRC6B (K36N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025427	NM_001162501.2(TNRC6B):c.2206C>T (p.Arg736Cys)	TNRC6B (R736C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3025267	NM_001162501.2(TNRC6B):c.5316C>T (p.Leu1772=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920690	NM_001162501.2(TNRC6B):c.1723G>A (p.Gly575Arg)	TNRC6B (G575R)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2862613	NM_001162501.2(TNRC6B):c.1601G>A (p.Ser534Asn)	TNRC6B (S534N)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2691538	NM_001162501.2(TNRC6B):c.3936+8G>A	TNRC6B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2691468	NM_001162501.2(TNRC6B):c.3995G>T (p.Gly1332Val)	TNRC6B (G1222V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690250	NM_001162501.2(TNRC6B):c.2888G>T (p.Gly963Val)	TNRC6B (G216V +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2686034	NM_001162501.2(TNRC6B):c.3282dup (p.Phe1095fs)	TNRC6B (F1042fs +2 more)	Duplication (frameshift variant)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2681617	NM_001162501.2(TNRC6B):c.5352G>A (p.Gly1784=)	TNRC6B	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672911	NM_001162501.2(TNRC6B):c.4457G>A (p.Trp1486Ter)	TNRC6B (W1376* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2672191	NM_001162501.2(TNRC6B):c.4402G>A (p.Gly1468Arg)	TNRC6B (G1358R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2672175	NM_001162501.2(TNRC6B):c.3056del (p.Gly1019fs)	TNRC6B (G1019fs +2 more)	Deletion (frameshift variant)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2671914	NM_001162501.2(TNRC6B):c.2925G>A (p.Trp975Ter)	TNRC6B (W228* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2671825	NM_001162501.2(TNRC6B):c.3840+1G>T	TNRC6B	Single nucleotide variant (splice donor variant)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2671649	NM_001162501.2(TNRC6B):c.3083G>A (p.Gly1028Asp)	TNRC6B (G1028D +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2664606	NM_001162501.2(TNRC6B):c.2933C>T (p.Thr978Met)	TNRC6B (T231M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664536	NM_001162501.2(TNRC6B):c.890C>T (p.Ser297Phe)	TNRC6B (S297F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
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 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 2653191	NM_001162501.2(TNRC6B):c.5272C>G (p.Pro1758Ala)	TNRC6B (P1648A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653190	NM_001162501.2(TNRC6B):c.5227G>C (p.Ala1743Pro)	TNRC6B (A1633P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653189	NM_001162501.2(TNRC6B):c.5114+10C>T	TNRC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653188	NM_001162501.2(TNRC6B):c.4830A>G (p.Pro1610=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653187	NM_001162501.2(TNRC6B):c.4485A>T (p.Glu1495Asp)	TNRC6B (E1385D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653186	NM_001162501.2(TNRC6B):c.4161G>A (p.Gly1387=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4