LENG9[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 3290472	NM_001301782.2(LENG9):c.1403C>G (p.Pro468Arg)	LENG9 (P468R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345887	NM_001301782.2(LENG9):c.1385T>C (p.Ile462Thr)	LENG9 (I462T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309317	NM_001301782.2(LENG9):c.1381C>T (p.Arg461Cys)	LENG9 (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368075	NM_001301782.2(LENG9):c.1375C>A (p.Leu459Met)	LENG9 (L459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118372	NM_001301782.2(LENG9):c.1348G>T (p.Gly450Trp)	LENG9 (G450W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369269	NM_001301782.2(LENG9):c.1322T>G (p.Leu441Arg)	LENG9 (L441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650452	NM_001301782.2(LENG9):c.1278C>T (p.Thr426=)	LENG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204858	NM_001301782.2(LENG9):c.1225G>A (p.Ala409Thr)	LENG9 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246738	NM_001301782.2(LENG9):c.1224A>C (p.Glu408Asp)	LENG9 (E408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471832	NM_001301782.2(LENG9):c.1168G>C (p.Ala390Pro)	LENG9 (A390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118371	NM_001301782.2(LENG9):c.1154C>T (p.Pro385Leu)	LENG9 (P385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290475	NM_001301782.2(LENG9):c.1114C>A (p.Pro372Thr)	LENG9 (P372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591425	NM_001301782.2(LENG9):c.1103G>A (p.Gly368Glu)	LENG9 (G368E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462936	NM_001301782.2(LENG9):c.1058A>C (p.Glu353Ala)	LENG9 (E353A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240775	NM_001301782.2(LENG9):c.1048G>A (p.Ala350Thr)	LENG9 (A350T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539749	NM_001301782.2(LENG9):c.1037G>T (p.Arg346Leu)	LENG9 (R346L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118369	NM_001301782.2(LENG9):c.985G>A (p.Ala329Thr)	LENG9 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118368	NM_001301782.2(LENG9):c.970G>A (p.Val324Met)	LENG9 (V324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493779	NM_001301782.2(LENG9):c.922C>A (p.Pro308Thr)	LENG9 (P308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339820	NM_001301782.2(LENG9):c.860T>A (p.Leu287His)	LENG9 (L287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118380	NM_001301782.2(LENG9):c.851G>C (p.Arg284Thr)	LENG9 (R284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529538	NM_001301782.2(LENG9):c.841G>A (p.Glu281Lys)	LENG9 (E281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347487	NM_001301782.2(LENG9):c.817G>A (p.Glu273Lys)	LENG9 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290471	NM_001301782.2(LENG9):c.790G>A (p.Gly264Arg)	LENG9 (G264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650453	NM_001301782.2(LENG9):c.789G>T (p.Pro263=)	LENG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315539	NM_001301782.2(LENG9):c.761G>A (p.Gly254Asp)	LENG9 (G254D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334299	NM_001301782.2(LENG9):c.689C>G (p.Pro230Arg)	LENG9 (P230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332256	NM_001301782.2(LENG9):c.590G>A (p.Cys197Tyr)	LENG9 (C197Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801786	NM_001301782.2(LENG9):c.551C>A (p.Ala184Asp)	LENG9 (A184D)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 3118376	NM_001301782.2(LENG9):c.530T>C (p.Leu177Pro)	LENG9 (L177P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493778	NM_001301782.2(LENG9):c.515G>T (p.Gly172Val)	LENG9 (G172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458960	NM_001301782.2(LENG9):c.515G>A (p.Gly172Asp)	LENG9 (G172D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290473	NM_001301782.2(LENG9):c.472A>G (p.Ile158Val)	LENG9 (I158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378713	NM_001301782.2(LENG9):c.385C>T (p.Arg129Cys)	LENG9 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118375	NM_001301782.2(LENG9):c.368A>C (p.His123Pro)	LENG9 (H123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525098	NM_001301782.2(LENG9):c.365A>C (p.Gln122Pro)	LENG9 (Q122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478737	NM_001301782.2(LENG9):c.283G>A (p.Gly95Ser)	LENG9 (G95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299765	NM_001301782.2(LENG9):c.283G>C (p.Gly95Arg)	LENG9 (G95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118374	NM_001301782.2(LENG9):c.265T>C (p.Tyr89His)	LENG9 (Y89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296256	NM_001301782.2(LENG9):c.262G>A (p.Gly88Ser)	LENG9 (G88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391974	NM_001301782.2(LENG9):c.251A>G (p.Asp84Gly)	LENG9 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290477	NM_001301782.2(LENG9):c.164C>G (p.Pro55Arg)	LENG9 (P55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118373	NM_001301782.2(LENG9):c.107C>G (p.Ala36Gly)	LENG9 (A36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227085	NM_001301782.2(LENG9):c.58C>T (p.Pro20Ser)	LENG9 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118370	NM_001301782.2(LENG9):c.41C>G (p.Pro14Arg)	LENG9 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471105	NM_001301782.2(LENG9):c.41C>A (p.Pro14His)	LENG9 (P14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118379	NM_001301782.2(LENG9):c.19C>T (p.Pro7Ser)	LENG9 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118378	NM_001301782.2(LENG9):c.2T>C (p.Met1Thr)	LENG9 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118377	NM_001301782.2(LENG9):c.-8C>T	LENG9	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3290476	NM_001301782.2(LENG9):c.-53C>A	LENG9	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 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

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Items: 72