ClinVar for Gene (Select 114823) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290470	NM_052925.4(LENG8):c.644C>A (p.Pro215His)	LENG8 (P197H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290469	NM_052925.4(LENG8):c.164C>T (p.Ala55Val)	LENG8 (A55V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290468	NM_052925.4(LENG8):c.631G>A (p.Glu211Lys)	LENG8 (E211K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290467	NM_052925.4(LENG8):c.1859C>T (p.Thr620Met)	LENG8 (T602M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290466	NM_052925.4(LENG8):c.2062C>G (p.Arg688Gly)	LENG8 (R651G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290464	NM_052925.4(LENG8):c.770A>G (p.Gln257Arg)	LENG8 (Q239R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290463	NM_052925.4(LENG8):c.2252C>T (p.Ala751Val)	LENG8 (A751V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118367	NM_052925.4(LENG8):c.595G>A (p.Ala199Thr)	LENG8 (A199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118366	NM_052925.4(LENG8):c.467C>T (p.Ala156Val)	LENG8 (A156V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118365	NM_052925.4(LENG8):c.320T>C (p.Met107Thr)	LENG8 (M89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118364	NM_052925.4(LENG8):c.2309G>A (p.Arg770Gln)	LENG8 (R770Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118363	NM_052925.4(LENG8):c.2180A>G (p.Tyr727Cys)	LENG8 (Y690C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118362	NM_052925.4(LENG8):c.194G>T (p.Gly65Val)	LENG8 (G65V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118360	NM_052925.4(LENG8):c.1661G>T (p.Cys554Phe)	LENG8 (C517F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118359	NM_052925.4(LENG8):c.1430C>T (p.Ala477Val)	LENG8 (A477V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118358	NM_052925.4(LENG8):c.1237T>C (p.Ser413Pro)	LENG8 (S376P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118357	NM_052925.4(LENG8):c.1221C>G (p.Phe407Leu)	LENG8 (F370L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118356	NM_052925.4(LENG8):c.1007G>A (p.Ser336Asn)	LENG8 (S299N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056840	NM_052925.4(LENG8):c.1669A>G (p.Ile557Val)	LENG8 (I520V +2 more)	Single nucleotide variant (missense variant)	LENG8-related disorder	GBenign
Select item 3052389	NM_052925.4(LENG8):c.1288C>T (p.Arg430Cys)	LENG8 (R393C +2 more)	Single nucleotide variant (missense variant)	LENG8-related disorder	GBenign
Select item 3049835	NM_052925.4(LENG8):c.594C>T (p.Pro198=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3049713	NM_052925.4(LENG8):c.255G>C (p.Gln85His)	LENG8 (Q67H +1 more)	Single nucleotide variant (missense variant)	LENG8-related disorder	GBenign
Select item 3049268	NM_052925.4(LENG8):c.2250T>A (p.Pro750=)	LENG8	Single nucleotide variant (3 prime UTR variant +1 more)	LENG8-related disorder	GLikely benign
Select item 3047873	NM_052925.4(LENG8):c.1791G>A (p.Ala597=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3047313	NM_052925.4(LENG8):c.1392C>T (p.Gly464=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3045293	NM_052925.4(LENG8):c.102C>T (p.His34=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3045258	NM_052925.4(LENG8):c.1023G>A (p.Pro341=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3038368	NM_052925.4(LENG8):c.1935G>A (p.Thr645=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3037782	NM_052925.4(LENG8):c.1890C>T (p.Ile630=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GBenign
Select item 3037344	NM_052925.4(LENG8):c.1848C>T (p.Arg616=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 3037173	NM_052925.4(LENG8):c.1732-9C>T	LENG8	Single nucleotide variant (intron variant)	LENG8-related disorder	GBenign
Select item 3035905	NM_052925.4(LENG8):c.973C>T (p.Leu325=)	LENG8	Single nucleotide variant (synonymous variant)	LENG8-related disorder	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650451	NM_052925.4(LENG8):c.*438C>T	LENG8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2650450	NM_052925.4(LENG8):c.1458G>A (p.Ala486=)	LENG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601803	NM_052925.4(LENG8):c.1565G>A (p.Arg522His)	LENG8 (R522H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597301	NM_052925.4(LENG8):c.169G>A (p.Gly57Ser)	LENG8 (G39S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549356	NM_052925.4(LENG8):c.2126G>A (p.Gly709Asp)	LENG8 (G709D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541702	NM_052925.4(LENG8):c.512A>T (p.Asn171Ile)	LENG8 (N153I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530432	NM_052925.4(LENG8):c.1378C>G (p.Pro460Ala)	LENG8 (P442A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524257	NM_052925.4(LENG8):c.1514G>A (p.Arg505Gln)	LENG8 (R468Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508066	NM_052925.4(LENG8):c.2348C>T (p.Pro783Leu)	LENG8 (P783L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470499	NM_052925.4(LENG8):c.737C>A (p.Thr246Asn)	LENG8 (T228N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461414	NM_052925.4(LENG8):c.191A>G (p.Asn64Ser)	LENG8 (N46S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409609	NM_052925.4(LENG8):c.1074G>T (p.Glu358Asp)	LENG8 (E321D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408792	NM_052925.4(LENG8):c.1065G>T (p.Lys355Asn)	LENG8 (K355N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408504	NM_052925.4(LENG8):c.92C>T (p.Thr31Met)	LENG8 (T13M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384879	NM_052925.4(LENG8):c.698G>A (p.Gly233Asp)	LENG8 (G233D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376367	NM_052925.4(LENG8):c.1752C>G (p.Cys584Trp)	LENG8 (C547W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374506	NM_052925.4(LENG8):c.224A>G (p.Gln75Arg)	LENG8 (Q57R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366821	NM_052925.4(LENG8):c.26G>A (p.Arg9His)	LENG8 (R9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359202	NM_052925.4(LENG8):c.2215G>C (p.Val739Leu)	LENG8 (V721L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345733	NM_052925.4(LENG8):c.2387A>G (p.Gln796Arg)	LENG8 (Q796R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340225	NM_052925.4(LENG8):c.2053T>A (p.Tyr685Asn)	LENG8 (Y648N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315382	NM_052925.4(LENG8):c.1259G>A (p.Arg420His)	LENG8 (R383H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306908	NM_052925.4(LENG8):c.1106C>T (p.Ala369Val)	LENG8 (A332V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304479	NM_052925.4(LENG8):c.1175G>A (p.Arg392Gln)	LENG8 (R374Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298256	NM_052925.4(LENG8):c.643C>T (p.Pro215Ser)	LENG8 (P215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296706	NM_052925.4(LENG8):c.635C>G (p.Pro212Arg)	LENG8 (P194R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287445	NM_052925.4(LENG8):c.2164C>T (p.Pro722Ser)	LENG8 (P704S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285948	NM_052925.4(LENG8):c.557G>C (p.Gly186Ala)	LENG8 (G149A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247544	NM_052925.4(LENG8):c.1066C>T (p.Arg356Trp)	LENG8 (R319W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243030	NM_052925.4(LENG8):c.397G>A (p.Ala133Thr)	LENG8 (A115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236179	NM_052925.4(LENG8):c.439G>A (p.Gly147Ser)	LENG8 (G110S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228429	NM_052925.4(LENG8):c.725C>A (p.Pro242His)	LENG8 (P205H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223569	NM_052925.4(LENG8):c.1954G>A (p.Ala652Thr)	LENG8 (A634T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220106	NM_052925.4(LENG8):c.1387C>T (p.Arg463Trp)	LENG8 (R426W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206491	NM_052925.4(LENG8):c.559A>C (p.Thr187Pro)	LENG8 (T187P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
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
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89