79816[geneid] - ClinVar - NCBI

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	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 3050493	NM_001143986.2(TLE6):c.18G>T (p.Gln6His)	TLE6 (Q6H)	Single nucleotide variant (missense variant +2 more)	TLE6-related disorder	GBenign
Select item 3326305	NM_001143986.2(TLE6):c.38C>T (p.Pro13Leu)	TLE6 (P13L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3326306	NM_001143986.2(TLE6):c.169A>G (p.Ile57Val)	TLE6 (I57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221182	NM_001143986.2(TLE6):c.185A>G (p.His62Arg)	TLE6 (H62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177833	NM_001143986.2(TLE6):c.211C>A (p.His71Asn)	TLE6 (H71N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521983	NM_001143986.2(TLE6):c.317C>T (p.Thr106Met)	TLE6 (T106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690238	NM_001143986.2(TLE6):c.349G>A (p.Glu117Lys)	TLE6 (E117K)	Single nucleotide variant (missense variant +1 more)	Preimplantation embryonic lethality 1	GUncertain significance
Select item 3177834	NM_001143986.2(TLE6):c.353C>T (p.Ser118Leu)	TLE6 (S118L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735987	NM_001143986.2(TLE6):c.358T>C (p.Phe120Leu)	TLE6 (F120L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2469077	NM_001143986.2(TLE6):c.382T>C (p.Ser128Pro)	TLE6 (S5P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531426	NM_001143986.2(TLE6):c.386C>A (p.Ser129Tyr)	TLE6 (S129Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510053	NM_001143986.2(TLE6):c.400C>T (p.Arg134Trp)	TLE6 (R11W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177835	NM_001143986.2(TLE6):c.409G>C (p.Gly137Arg)	TLE6 (G14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224390	NM_001143986.2(TLE6):c.410G>A (p.Gly137Glu)	TLE6 (G137E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394913	NM_001143986.2(TLE6):c.419A>G (p.Asn140Ser)	TLE6 (N140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475162	NM_001143986.2(TLE6):c.469G>A (p.Asp157Asn)	TLE6 (D34N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487185	NM_001143986.2(TLE6):c.519G>C (p.Glu173Asp)	TLE6 (E173D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879408	NM_001143986.2(TLE6):c.585C>T (p.Ser195=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244722	NM_001143986.2(TLE6):c.592C>T (p.Pro198Ser)	TLE6 (P75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498746	NM_001143986.2(TLE6):c.628C>T (p.Pro210Ser)	TLE6 (P210S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263410	NM_001143986.2(TLE6):c.634C>A (p.Pro212Thr)	TLE6 (P212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2160860	NM_001143986.2(TLE6):c.665dup (p.Ser223fs)	TLE6 (S223fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 782164	NM_001143986.2(TLE6):c.699C>T (p.Val233=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464817	NM_001143986.2(TLE6):c.725G>A (p.Arg242Gln)	TLE6 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2064539	NM_001143986.2(TLE6):c.741-1G>C	TLE6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2528195	NM_001143986.2(TLE6):c.767A>C (p.Asp256Ala)	TLE6 (D256A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177837	NM_001143986.2(TLE6):c.770C>G (p.Ala257Gly)	TLE6 (A257G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026334	NM_001143986.2(TLE6):c.784G>A (p.Asp262Asn)	TLE6 (D139N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555416	NM_001143986.2(TLE6):c.788C>G (p.Ala263Gly)	TLE6 (A140G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 799882	NM_001143986.2(TLE6):c.795C>T (p.Pro265=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812696	NM_001143986.2(TLE6):c.805_806del (p.Lys269fs)	TLE6 (K146fs +1 more)	Deletion (frameshift variant)	Preimplantation embryonic lethality 1	GLikely pathogenic
Select item 2331134	NM_001143986.2(TLE6):c.833A>G (p.Glu278Gly)	TLE6 (E155G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549056	NM_001143986.2(TLE6):c.838A>G (p.Met280Val)	TLE6 (M157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648980	NM_001143986.2(TLE6):c.841C>A (p.Arg281=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768952	NM_001143986.2(TLE6):c.855C>T (p.His285=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734208	NM_001143986.2(TLE6):c.861G>A (p.Glu287=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375137	NM_001143986.2(TLE6):c.875C>T (p.Thr292Met)	TLE6 (T169M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239128	NM_001143986.2(TLE6):c.893C>T (p.Thr298Met)	TLE6 (T175M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2364713	NM_001143986.2(TLE6):c.895C>T (p.Arg299Trp)	TLE6 (R176W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879409	NM_001143986.2(TLE6):c.901G>A (p.Val301Met)	TLE6 (V178M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042946	NM_001143986.2(TLE6):c.993+8C>T	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GLikely benign
Select item 2578815	NM_001143986.2(TLE6):c.997C>T (p.Pro333Ser)	TLE6 (P210S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2462864	NM_001143986.2(TLE6):c.1012C>T (p.Arg338Cys)	TLE6 (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177829	NM_001143986.2(TLE6):c.1021C>A (p.Leu341Met)	TLE6 (L218M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524751	NM_001143986.2(TLE6):c.1041G>C (p.Arg347Ser)	TLE6 (R224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381517	NM_001143986.2(TLE6):c.1043G>C (p.Ser348Thr)	TLE6 (S225T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1691503	NM_001143986.2(TLE6):c.1054G>C (p.Gly352Arg)	TLE6 (G229R +1 more)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 1	GPathogenic
Select item 2529408	NM_001143986.2(TLE6):c.1060T>C (p.Tyr354His)	TLE6 (Y354H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3048524	NM_001143986.2(TLE6):c.1095G>A (p.Ala365=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 2400769	NM_001143986.2(TLE6):c.1097C>T (p.Ala366Val)	TLE6 (A243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370215	NM_001143986.2(TLE6):c.1100C>T (p.Pro367Leu)	TLE6 (P367L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313783	NM_001143986.2(TLE6):c.1105C>A (p.Leu369Met)	TLE6 (L246M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 453260	NM_001143986.2(TLE6):c.1133del (p.Ala378fs)	TLE6 (A255fs +1 more)	Deletion (frameshift variant)	Preimplantation embryonic lethality 1	GPathogenic
Select item 3057162	NM_001143986.2(TLE6):c.1158T>C (p.Asp386=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign
Select item 784384	NM_001143986.2(TLE6):c.1176C>T (p.Asn392=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046348	NM_001143986.2(TLE6):c.1269A>G (p.Gly423=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 2293197	NM_001143986.2(TLE6):c.1274A>G (p.Lys425Arg)	TLE6 (K302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326307	NM_001143986.2(TLE6):c.1278T>G (p.Ser426Arg)	TLE6 (S303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400877	NM_001143986.2(TLE6):c.1282G>A (p.Val428Met)	TLE6 (V305M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782318	NM_001143986.2(TLE6):c.1287C>T (p.Val429=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334551	NM_001143986.2(TLE6):c.1312G>T (p.Gly438Cys)	TLE6 (G315C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060824	NM_001143986.2(TLE6):c.1387-3T>C	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GBenign
Select item 3040040	NM_001143986.2(TLE6):c.1461A>G (p.Gln487=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 777363	NM_001143986.2(TLE6):c.1470C>T (p.Ser490=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308570	NM_001143986.2(TLE6):c.1481G>A (p.Arg494Gln)	TLE6 (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571025	NM_001143986.2(TLE6):c.1519G>A (p.Val507Ile)	TLE6 (V384I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 222026	NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr)	TLE6 (S510Y +1 more)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 1	GPathogenic
Select item 3177830	NM_001143986.2(TLE6):c.1531C>G (p.Pro511Ala)	TLE6 (P388A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782319	NM_001143986.2(TLE6):c.1537+7G>A	TLE6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3177831	NM_001143986.2(TLE6):c.1577G>A (p.Gly526Asp)	TLE6 (G403D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326304	NM_001143986.2(TLE6):c.1579G>A (p.Val527Ile)	TLE6 (V404I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3047110	NM_001143986.2(TLE6):c.1584C>T (p.Tyr528=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GLikely benign
Select item 3326303	NM_001143986.2(TLE6):c.1612G>C (p.Glu538Gln)	TLE6 (E415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520318	NM_001143986.2(TLE6):c.1612G>A (p.Glu538Lys)	TLE6 (E415K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052081	NM_001143986.2(TLE6):c.1615-7C>A	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder	GLikely benign
Select item 741067	NM_001143986.2(TLE6):c.1615-6C>T	TLE6	Single nucleotide variant (intron variant)	TLE6-related disorder +1 more	GBenign/Likely benign
Select item 3046377	NM_001143986.2(TLE6):c.1615-5del	TLE6	Deletion (intron variant)	TLE6-related disorder	GLikely benign
Select item 3060759	NM_001143986.2(TLE6):c.1620T>C (p.Pro540=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign
Select item 739581	NM_001143986.2(TLE6):c.1620T>G (p.Pro540=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598863	NM_001143986.2(TLE6):c.1624A>G (p.Met542Val)	TLE6 (M542V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177832	NM_001143986.2(TLE6):c.1628C>G (p.Ser543Cys)	TLE6 (S420C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060029	NM_001143986.2(TLE6):c.1638G>A (p.Thr546=)	TLE6	Single nucleotide variant (synonymous variant)	TLE6-related disorder	GBenign
Select item 2384841	NM_001143986.2(TLE6):c.1648G>A (p.Val550Ile)	TLE6 (V550I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590306	NM_001143986.2(TLE6):c.1663C>T (p.Arg555Cys)	TLE6 (R432C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218490	NM_001143986.2(TLE6):c.1669G>A (p.Val557Ile)	TLE6 (V557I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 779369	NM_001143986.2(TLE6):c.1692C>T (p.His564=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	ABCA7, ABHD17A +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

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