11838[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 155019	GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3	CELF5, GNA11 +50 more	Copy number gain	See cases	GUncertain significance
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 2592400	NM_003260.5(TLE2):c.2165G>A (p.Arg722Lys)	TLE2 (R722K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177807	NM_003260.5(TLE2):c.2136G>A (p.Ser712=)	TLE2 (V701I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2217988	NM_003260.5(TLE2):c.2135C>T (p.Ser712Leu)	TLE2 (S712L +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1679860	NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn)	TLE2 (S583N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648981	NM_003260.5(TLE2):c.2088C>T (p.Asn696=)	TLE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598489	NM_003260.5(TLE2):c.2015G>A (p.Ser672Asn)	TLE2 (S550N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177804	NM_003260.5(TLE2):c.1985C>T (p.Pro662Leu)	TLE2 (P540L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177803	NM_003260.5(TLE2):c.1978C>T (p.Arg660Cys)	TLE2 (R538C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177802	NM_003260.5(TLE2):c.1865G>A (p.Arg622His)	TLE2 (R500H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403073	NM_003260.5(TLE2):c.1741A>G (p.Met581Val)	TLE2 (M582V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208571	NM_003260.5(TLE2):c.1697G>C (p.Cys566Ser)	TLE2 (C444S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392196	NM_003260.5(TLE2):c.1625A>C (p.Glu542Ala)	TLE2 (E420A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326293	NM_003260.5(TLE2):c.1613G>T (p.Arg538Leu)	TLE2 (R538L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177801	NM_003260.5(TLE2):c.1598C>T (p.Ala533Val)	TLE2 (A411V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690237	NM_003260.5(TLE2):c.1585A>G (p.Ile529Val)	TLE2 (I407V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477020	NM_003260.5(TLE2):c.1475C>T (p.Thr492Met)	TLE2 (T493M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624236	NM_003260.5(TLE2):c.1444G>A (p.Val482Met)	TLE2 (V483M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399249	NM_003260.5(TLE2):c.1336C>T (p.Arg446Trp)	TLE2 (R446W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326288	NM_003260.5(TLE2):c.1294G>A (p.Val432Ile)	TLE2 (V310I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247727	NM_003260.5(TLE2):c.1259C>T (p.Ser420Phe)	TLE2 (S298F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177800	NM_003260.5(TLE2):c.1241G>T (p.Gly414Val)	TLE2 (G414V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177799	NM_003260.5(TLE2):c.1217C>T (p.Ser406Phe)	TLE2 (S407F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336855	NM_003260.5(TLE2):c.1163G>A (p.Arg388His)	TLE2 (R266H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490733	NM_003260.5(TLE2):c.1036T>C (p.Ser346Pro)	TLE2 (S224P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679861	NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)	TLE2 (G194R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2243232	NM_003260.5(TLE2):c.908C>G (p.Ser303Cys)	TLE2 (S303C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252460	NM_003260.5(TLE2):c.895C>A (p.Pro299Thr)	TLE2 (P299T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177817	NM_003260.5(TLE2):c.883C>T (p.Pro295Ser)	TLE2 (P295S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177816	NM_003260.5(TLE2):c.797G>A (p.Arg266Gln)	TLE2 (R267Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326291	NM_003260.5(TLE2):c.740C>A (p.Pro247His)	TLE2 (P247H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648982	NM_003260.5(TLE2):c.684C>T (p.Ser228=)	TLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398777	NM_003260.5(TLE2):c.584C>T (p.Ser195Leu)	TLE2 (S196L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270285	NM_003260.5(TLE2):c.560C>T (p.Ala187Val)	TLE2 (A188V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350371	NM_003260.5(TLE2):c.544T>C (p.Ser182Pro)	TLE2 (S183P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512552	NM_003260.5(TLE2):c.529G>A (p.Val177Met)	TLE2 (V191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177815	NM_003260.5(TLE2):c.500C>T (p.Ala167Val)	TLE2 (A167V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365014	NM_003260.5(TLE2):c.452C>T (p.Thr151Met)	TLE2 (T165M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177814	NM_003260.5(TLE2):c.422G>A (p.Arg141His)	TLE2 (R141H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613114	NM_003260.5(TLE2):c.416C>G (p.Thr139Ser)	TLE2 (T139S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177812	NM_003260.5(TLE2):c.404C>T (p.Pro135Leu)	TLE2 (P135L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326289	NM_003260.5(TLE2):c.403C>G (p.Pro135Ala)	TLE2 (P135A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253149	NM_003260.5(TLE2):c.403C>A (p.Pro135Thr)	TLE2 (P149T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177811	NM_003260.5(TLE2):c.398C>T (p.Ala133Val)	TLE2 (A134V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623502	NM_003260.5(TLE2):c.383C>A (p.Pro128Gln)	TLE2 (P129Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177810	NM_003260.5(TLE2):c.325C>T (p.Arg109Cys)	TLE2 (R122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177809	NM_003260.5(TLE2):c.319G>A (p.Val107Ile)	TLE2 (V107I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150989	GRCh38/hg38 19p13.3(chr19:3020573-3482611)x3	CELF5, GNA11 +46 more	Copy number gain	See cases	GUncertain significance
Select item 3177808	NM_003260.5(TLE2):c.248G>A (p.Arg83His)	TLE2 (R83H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533423	NM_003260.5(TLE2):c.242T>G (p.Val81Gly)	TLE2 (V81G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484278	NM_003260.5(TLE2):c.235G>C (p.Glu79Gln)	TLE2 (E24Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177806	NM_003260.5(TLE2):c.205G>A (p.Gly69Arg)	TLE2 (G69R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326292	NM_003260.5(TLE2):c.204C>T (p.Tyr68=)	TLE2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2609686	NM_003260.5(TLE2):c.110C>A (p.Ala37Asp)	TLE2 (A37D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612681	NM_003260.5(TLE2):c.52A>G (p.Lys18Glu)	TLE2 (K31E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177813	NM_003260.5(TLE2):c.40G>A (p.Gly14Ser)	TLE2 (G14S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423880	NC_000019.9:g.(?_2901044)_(3121449_?)del	GNA11, TLE2 +3 more	Deletion	not provided	GPathogenic
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 78