ClinVar for Gene (Select 9113) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2656992	NM_004690.4(LATS1):c.286C>T (p.Arg96Trp)	LATS1 (R96W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2656991	NM_004690.4(LATS1):c.2547C>T (p.Leu849=)	LATS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611632	NM_004690.4(LATS1):c.1543A>G (p.Thr515Ala)	LATS1 (T235A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532654	NM_004690.4(LATS1):c.2476C>A (p.His826Asn)	LATS1 (H546N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524212	NM_004690.4(LATS1):c.2630A>G (p.Asn877Ser)	LATS1 (N597S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498249	NM_004690.4(LATS1):c.2029G>T (p.Ala677Ser)	LATS1 (A397S +2 more)	Single nucleotide variant (missense variant +1 more)	Teratoma	GUncertain significance
Select item 2472294	NM_004690.4(LATS1):c.475A>G (p.Ile159Val)	LATS1 (I54V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2463454	NM_004690.4(LATS1):c.1669C>T (p.Pro557Ser)	LATS1 (P277S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463091	NM_004690.4(LATS1):c.2693C>T (p.Ala898Val)	LATS1 (A618V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455924	NM_004690.4(LATS1):c.752C>T (p.Pro251Leu)	LATS1 (P146L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2402416	NM_004690.4(LATS1):c.521G>A (p.Arg174His)	LATS1 (R69H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2386131	NM_004690.4(LATS1):c.1183G>A (p.Ala395Thr)	LATS1 (A115T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363344	NM_004690.4(LATS1):c.3332C>T (p.Ser1111Leu)	LATS1 (S1111L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338596	NM_004690.4(LATS1):c.82C>G (p.Arg28Gly)	LATS1 (R28G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2307725	NM_004690.4(LATS1):c.853A>G (p.Ile285Val)	LATS1 (I285V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299764	NM_004690.4(LATS1):c.630T>G (p.Asp210Glu)	LATS1 (D210E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298175	NM_004690.4(LATS1):c.1505G>A (p.Arg502His)	LATS1 (R397H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291065	NM_004690.4(LATS1):c.1105A>G (p.Asn369Asp)	LATS1 (N89D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288746	NM_004690.4(LATS1):c.658A>T (p.Ile220Leu)	LATS1 (I220L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288121	NM_004690.4(LATS1):c.2137A>G (p.Ile713Val)	LATS1 (I608V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261336	NM_004690.4(LATS1):c.1130C>A (p.Pro377His)	LATS1 (P272H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261174	NM_004690.4(LATS1):c.1681A>G (p.Lys561Glu)	LATS1 (K456E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244677	NM_004690.4(LATS1):c.1811A>G (p.Asp604Gly)	LATS1 (D499G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1801795	NM_004690.4(LATS1):c.375A>T (p.Lys125Asn)	LATS1 (K125N +1 more)	Single nucleotide variant (missense variant +2 more)	Myoepithelial tumor	GPathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 800329	NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)	LATS1 (E537K +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 789003	NM_004690.4(LATS1):c.610A>G (p.Ser204Gly)	LATS1 (S99G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 719906	NM_004690.4(LATS1):c.1591C>T (p.Pro531Ser)	LATS1 (P251S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 619199	NM_004690.4(LATS1):c.2636G>A (p.Trp879Ter)	LATS1 (W879* +2 more)	Single nucleotide variant (nonsense +1 more)	Malignant peritoneal mesothelioma	GLikely pathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 487797	NM_004690.4(LATS1):c.2365G>C (p.Asp789His)	LATS1 (D509H +2 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	ADGB, ADGB-DT +172 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45