29190[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
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 996648	NM_001024843.2(TNRC6B):c.46-2A>G	TNRC6B	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	Gassociation
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 3255570	NM_001024843.2(TNRC6B):c.49G>T (p.Glu17Ter)	TNRC6B (E17*)	Single nucleotide variant (nonsense)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2574308	NM_001024843.2(TNRC6B):c.55G>T (p.Glu19Ter)	TNRC6B (E19*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1341761	NM_001024843.2(TNRC6B):c.104A>C (p.Glu35Ala)	TNRC6B (E35A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1174099	NM_001162501.2(TNRC6B):c.5+1G>A	TNRC6B	Single nucleotide variant (intron variant +1 more)	Global developmental delay	GUncertain significance
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 1700893	NM_001162501.2(TNRC6B):c.6-3T>A	TNRC6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1527918	NM_001162501.2(TNRC6B):c.16C>T (p.Gln6Ter)	TNRC6B (Q42* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay with speech and behavioral abnormalities	GPathogenic
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 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 3253187	NM_001162501.2(TNRC6B):c.121G>T (p.Glu41Ter)	TNRC6B (E41* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3327739	NM_001162501.2(TNRC6B):c.151A>G (p.Thr51Ala)	TNRC6B (T87A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3327740	NM_001162501.2(TNRC6B):c.152C>T (p.Thr51Met)	TNRC6B (T51M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437162	NM_001162501.2(TNRC6B):c.157G>A (p.Ala53Thr)	TNRC6B (A53T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
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 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 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 3327741	NM_001162501.2(TNRC6B):c.173G>A (p.Ser58Asn)	TNRC6B (S94N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2120936	NM_001162501.2(TNRC6B):c.203A>T (p.Asn68Ile)	TNRC6B (N104I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1366533	NM_001162501.2(TNRC6B):c.227C>T (p.Pro76Leu)	TNRC6B (P112L +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 2653167	NM_001162501.2(TNRC6B):c.239C>T (p.Pro80Leu)	TNRC6B (P116L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805996	NM_001162501.2(TNRC6B):c.253C>G (p.Arg85Gly)	TNRC6B (R121G +1 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	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 2653168	NM_001162501.2(TNRC6B):c.336A>G (p.Pro112=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2653169	NM_001162501.2(TNRC6B):c.339G>A (p.Pro113=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 2653170	NM_001162501.2(TNRC6B):c.425C>T (p.Ala142Val)	TNRC6B (A142V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2571161	NM_001162501.2(TNRC6B):c.426G>A (p.Ala142=)	TNRC6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2016719	NM_001162501.2(TNRC6B):c.449C>A (p.Thr150Asn)	TNRC6B (T150N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327738	NM_001162501.2(TNRC6B):c.452C>T (p.Ala151Val)	TNRC6B (A151V +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 2653171	NM_001162501.2(TNRC6B):c.504T>C (p.Thr168=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1701738	NM_001162501.2(TNRC6B):c.530A>G (p.Asn177Ser)	TNRC6B (N177S)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	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 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 1805613	NM_001162501.2(TNRC6B):c.595G>C (p.Glu199Gln)	TNRC6B (E199Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental 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 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 3257283	NM_001162501.2(TNRC6B):c.642C>T (p.Asn214=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1334512	NM_001162501.2(TNRC6B):c.659G>A (p.Ser220Asn)	TNRC6B (S220N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3327746	NM_001162501.2(TNRC6B):c.677C>T (p.Ser226Phe)	TNRC6B (S226F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3327749	NM_001162501.2(TNRC6B):c.684G>C (p.Lys228Asn)	TNRC6B (K228N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 1321821	NM_001162501.2(TNRC6B):c.792G>A (p.Lys264=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2575176	NM_001162501.2(TNRC6B):c.830_836del (p.Asn277fs)	TNRC6B (N277fs)	Deletion (frameshift variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GPathogenic
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 2498322	NM_001162501.2(TNRC6B):c.865G>T (p.Gly289Cys)	TNRC6B (G289C)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	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 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 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 778200	NM_001162501.2(TNRC6B):c.915T>C (p.Asn305=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	TNRC6B-related disorder +1 more	GBenign/Likely benign
Select item 1805599	NM_001162501.2(TNRC6B):c.917G>A (p.Ser306Asn)	TNRC6B (S306N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
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 2653172	NM_001162501.2(TNRC6B):c.945C>T (p.Val315=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 3067383	NM_001162501.2(TNRC6B):c.1032G>A (p.Arg344=)	TNRC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1352931	NM_001162501.2(TNRC6B):c.1090C>T (p.Gln364Ter)	TNRC6B (Q364*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2437164	NM_001162501.2(TNRC6B):c.1111G>A (p.Asp371Asn)	TNRC6B (D371N)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
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 3327742	NM_001162501.2(TNRC6B):c.1190G>A (p.Gly397Glu)	TNRC6B (G397E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1695047	NM_001162501.2(TNRC6B):c.1225G>T (p.Ala409Ser)	TNRC6B (A409S)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2579964	NM_001162501.2(TNRC6B):c.1249C>T (p.Arg417Ter)	TNRC6B (R417*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2653173	NM_001162501.2(TNRC6B):c.1267G>C (p.Gly423Arg)	TNRC6B (G423R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437161	NM_001162501.2(TNRC6B):c.1268G>T (p.Gly423Val)	TNRC6B (G423V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 2504206	NM_001162501.2(TNRC6B):c.1359_1362del (p.Glu454fs)	TNRC6B (E454fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
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 3180711	NM_001162501.2(TNRC6B):c.1381T>C (p.Ser461Pro)	TNRC6B (S461P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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