20067[HGNC] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 2493347	NM_032557.6(USP38):c.7A>G (p.Lys3Glu)	USP38 (K3E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187554	NM_032557.6(USP38):c.64G>T (p.Val22Leu)	USP38 (V22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331523	NM_032557.6(USP38):c.90G>C (p.Glu30Asp)	USP38 (E30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187538	NM_032557.6(USP38):c.105G>C (p.Glu35Asp)	USP38 (E35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331528	NM_032557.6(USP38):c.265C>T (p.Leu89Phe)	USP38 (L89F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187549	NM_032557.6(USP38):c.294G>C (p.Arg98Ser)	USP38 (R98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331527	NM_032557.6(USP38):c.367C>G (p.Leu123Val)	USP38 (L123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187552	NM_032557.6(USP38):c.376C>T (p.Leu126Phe)	USP38 (L126F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260322	NM_032557.6(USP38):c.376C>G (p.Leu126Val)	USP38 (L126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567820	NM_032557.6(USP38):c.428T>A (p.Leu143His)	USP38 (L143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327399	NM_032557.6(USP38):c.481G>A (p.Gly161Arg)	USP38 (G161R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187553	NM_032557.6(USP38):c.518G>A (p.Arg173Gln)	USP38 (R173Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538132	NM_032557.6(USP38):c.644C>T (p.Pro215Leu)	USP38 (P215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187555	NM_032557.6(USP38):c.797G>A (p.Ser266Asn)	USP38 (S266N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360684	NM_032557.6(USP38):c.856G>A (p.Val286Met)	USP38 (V286M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187556	NM_032557.6(USP38):c.997G>C (p.Val333Leu)	USP38 (V333L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527166	NM_032557.6(USP38):c.1162T>C (p.Tyr388His)	USP38 (Y388H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331525	NM_032557.6(USP38):c.1256A>G (p.Gln419Arg)	USP38 (Q419R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554395	NM_032557.6(USP38):c.1286T>C (p.Leu429Ser)	USP38 (L395S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187539	NM_032557.6(USP38):c.1366A>G (p.Met456Val)	USP38 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523051	NM_032557.6(USP38):c.1368G>A (p.Met456Ile)	USP38 (M422I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472062	NM_032557.6(USP38):c.1520T>A (p.Ile507Lys)	USP38 (I52K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488222	NM_032557.6(USP38):c.1651C>G (p.Pro551Ala)	USP38 (P551A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187540	NM_032557.6(USP38):c.1687C>G (p.Gln563Glu)	USP38 (Q563E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331519	NM_032557.6(USP38):c.1741G>A (p.Gly581Ser)	USP38 (G547S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331526	NM_032557.6(USP38):c.1816A>C (p.Thr606Pro)	USP38 (T572P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187541	NM_032557.6(USP38):c.1823A>T (p.Gln608Leu)	USP38 (Q153L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187542	NM_032557.6(USP38):c.1874C>G (p.Ser625Cys)	USP38 (S170C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331529	NM_032557.6(USP38):c.1882A>G (p.Asn628Asp)	USP38 (N173D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293088	NM_032557.6(USP38):c.1939C>G (p.Gln647Glu)	USP38 (Q613E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209896	NM_032557.6(USP38):c.1997C>G (p.Ala666Gly)	USP38 (A666G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507912	NM_032557.6(USP38):c.2026A>G (p.Lys676Glu)	USP38 (K642E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400852	NM_032557.6(USP38):c.2086G>A (p.Glu696Lys)	USP38 (E696K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306441	NM_032557.6(USP38):c.2129C>T (p.Pro710Leu)	USP38 (P255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310113	NM_032557.6(USP38):c.2135G>C (p.Gly712Ala)	USP38 (G678A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187543	NM_032557.6(USP38):c.2222A>G (p.Asn741Ser)	USP38 (N741S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544945	NM_032557.6(USP38):c.2326G>C (p.Val776Leu)	USP38 (V321L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187544	NM_032557.6(USP38):c.2393C>G (p.Thr798Ser)	USP38 (T798S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478351	NM_032557.6(USP38):c.2396C>T (p.Ser799Phe)	USP38 (S765F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250369	NM_032557.6(USP38):c.2446C>T (p.Leu816Phe)	USP38 (L816F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187545	NM_032557.6(USP38):c.2512G>T (p.Val838Leu)	USP38 (V804L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187546	NM_032557.6(USP38):c.2521C>G (p.Leu841Val)	USP38 (L807V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331521	NM_032557.6(USP38):c.2533G>A (p.Val845Ile)	USP38 (V390I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620518	NM_032557.6(USP38):c.2585C>G (p.Ala862Gly)	USP38 (A862G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187547	NM_032557.6(USP38):c.2678G>A (p.Arg893Lys)	USP38 (R859K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331524	NM_032557.6(USP38):c.2759G>C (p.Arg920Thr)	USP38 (R465T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187548	NM_032557.6(USP38):c.2849A>G (p.His950Arg)	USP38 (H916R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524186	NM_032557.6(USP38):c.2870G>A (p.Gly957Asp)	USP38 (G957D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331520	NM_032557.6(USP38):c.2935G>A (p.Ala979Thr)	USP38 (A945T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472488	NM_032557.6(USP38):c.3017C>T (p.Ser1006Leu)	USP38 (S551L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226854	NM_032557.6(USP38):c.3028C>T (p.Arg1010Trp)	USP38 (R555W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372525	NM_032557.6(USP38):c.3029G>A (p.Arg1010Gln)	USP38 (R976Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612518	NM_032557.6(USP38):c.3037G>A (p.Gly1013Arg)	USP38 (G558R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187550	NM_032557.6(USP38):c.3076A>G (p.Thr1026Ala)	USP38 (T1026A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187551	NM_032557.6(USP38):c.3121G>A (p.Val1041Ile)	USP38 (V1041I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 83