7375[Gene ID] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 3331539	NM_003363.4(USP4):c.2836A>G (p.Ser946Gly)	USP4 (S946G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316342	NM_003363.4(USP4):c.2775T>G (p.Asp925Glu)	USP4 (D925E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611676	NM_003363.4(USP4):c.2759A>G (p.Tyr920Cys)	USP4 (Y920C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331538	NM_003363.4(USP4):c.2747A>C (p.Tyr916Ser)	USP4 (Y916S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360633	NM_003363.4(USP4):c.2704G>A (p.Val902Met)	USP4 (V855M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538133	NM_003363.4(USP4):c.2627C>A (p.Ala876Asp)	USP4 (A829D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272705	NM_003363.4(USP4):c.2602A>G (p.Ile868Val)	USP4 (I868V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736366	NM_003363.4(USP4):c.2565C>T (p.Val855=)	USP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773442	NM_003363.4(USP4):c.2536A>G (p.Ile846Val)	USP4 (I846V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2220000	NM_003363.4(USP4):c.2524G>A (p.Val842Ile)	USP4 (V795I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726623	NM_003363.4(USP4):c.2523C>T (p.Val841=)	USP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549795	NM_003363.4(USP4):c.2479C>T (p.Arg827Cys)	USP4 (R780C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331536	NM_003363.4(USP4):c.2473C>T (p.Leu825Phe)	USP4 (L778F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187579	NM_003363.4(USP4):c.2470C>T (p.His824Tyr)	USP4 (H777Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187578	NM_003363.4(USP4):c.2381A>G (p.His794Arg)	USP4 (H794R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377016	NM_003363.4(USP4):c.2359A>G (p.Thr787Ala)	USP4 (T787A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460664	NM_003363.4(USP4):c.2291G>C (p.Ser764Thr)	USP4 (S764T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466137	NM_003363.4(USP4):c.2240G>A (p.Arg747Gln)	USP4 (R700Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187577	NM_003363.4(USP4):c.2176G>A (p.Asp726Asn)	USP4 (D726N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187576	NM_003363.4(USP4):c.2171C>G (p.Ala724Gly)	USP4 (A724G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216001	NM_003363.4(USP4):c.2073G>T (p.Glu691Asp)	USP4 (E644D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187575	NM_003363.4(USP4):c.2069G>A (p.Ser690Asn)	USP4 (S690N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331541	NM_003363.4(USP4):c.2038A>G (p.Ser680Gly)	USP4 (S680G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187574	NM_003363.4(USP4):c.1999C>G (p.Gln667Glu)	USP4 (Q667E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187573	NM_003363.4(USP4):c.1984G>A (p.Glu662Lys)	USP4 (E615K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331535	NM_003363.4(USP4):c.1928C>T (p.Pro643Leu)	USP4 (P596L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722360	NM_003363.4(USP4):c.1889A>G (p.Tyr630Cys)	USP4 (Y583C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2458576	NM_003363.4(USP4):c.1877G>C (p.Arg626Pro)	USP4 (R579P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709660	NM_003363.4(USP4):c.1859A>G (p.Tyr620Cys)	USP4 (Y620C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713443	NM_003363.4(USP4):c.1773A>T (p.Pro591=)	USP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2520400	NM_003363.4(USP4):c.1724C>T (p.Ser575Leu)	USP4 (S575L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382682	NM_003363.4(USP4):c.1558G>A (p.Glu520Lys)	USP4 (E473K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187571	NM_003363.4(USP4):c.1549G>A (p.Asp517Asn)	USP4 (D470N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333826	NM_003363.4(USP4):c.1537G>A (p.Gly513Arg)	USP4 (G513R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273033	NM_003363.4(USP4):c.1517G>A (p.Arg506His)	USP4 (R506H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311250	NM_003363.4(USP4):c.1231C>T (p.Arg411Trp)	USP4 (R411W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244834	NM_003363.4(USP4):c.1217A>G (p.His406Arg)	USP4 (H359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486713	NM_003363.4(USP4):c.1147G>A (p.Ala383Thr)	USP4 (A336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653826	NM_003363.4(USP4):c.1074C>A (p.Leu358=)	USP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329709	NM_003363.4(USP4):c.1064A>G (p.Tyr355Cys)	USP4 (Y308C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553269	NM_003363.4(USP4):c.1052T>G (p.Ile351Ser)	USP4 (I304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236638	NM_003363.4(USP4):c.863A>G (p.Asn288Ser)	USP4 (N241S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251669	NM_003363.4(USP4):c.834G>C (p.Arg278Ser)	USP4 (R278S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492917	NM_003363.4(USP4):c.755A>G (p.Tyr252Cys)	USP4 (Y252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225537	NM_003363.4(USP4):c.530C>T (p.Ala177Val)	USP4 (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546331	NM_003363.4(USP4):c.469A>T (p.Ser157Cys)	USP4 (S157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187582	NM_003363.4(USP4):c.464A>G (p.His155Arg)	USP4 (H155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212985	NM_003363.4(USP4):c.400G>A (p.Glu134Lys)	USP4 (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331534	NM_003363.4(USP4):c.395A>T (p.Lys132Ile)	USP4 (K132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745973	NM_003363.4(USP4):c.351C>T (p.Ile117=)	USP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331540	NM_003363.4(USP4):c.349A>G (p.Ile117Val)	USP4 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187581	NM_003363.4(USP4):c.313C>A (p.Leu105Ile)	USP4 (L105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348067	NM_003363.4(USP4):c.299C>T (p.Ala100Val)	USP4 (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532678	NM_003363.4(USP4):c.212A>C (p.Asn71Thr)	USP4 (N71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187572	NM_003363.4(USP4):c.173A>G (p.Asn58Ser)	USP4 (N58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481107	NM_003363.4(USP4):c.70A>G (p.Met24Val)	USP4 (M24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187583	NM_003363.4(USP4):c.69A>C (p.Leu23Phe)	USP4 (L23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331537	NM_003363.4(USP4):c.44C>T (p.Thr15Ile)	USP4 (T15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260052	NM_003363.4(USP4):c.44C>G (p.Thr15Ser)	USP4 (T15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358790	NM_003363.4(USP4):c.22C>T (p.Arg8Cys)	LOC129936750, USP4 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536668	NM_003363.4(USP4):c.5C>T (p.Ala2Val)	LOC129936750, USP4 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	CIMIP7, DAG1 +11 more	Deletion	Pierson syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 73