2542[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 60201	GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1	ASIC5, CTSO +6 more	Copy number loss	See cases	GUncertain significance
Select item 2329195	NM_001334.3(CTSO):c.946G>A (p.Val316Ile)	CTSO (V316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078791	NM_001334.3(CTSO):c.923A>G (p.Asn308Ser)	CTSO (N308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249436	NM_001334.3(CTSO):c.868T>G (p.Ser290Ala)	CTSO (S290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595814	NM_001334.3(CTSO):c.863G>A (p.Arg288Gln)	CTSO (R288Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261111	NM_001334.3(CTSO):c.862C>T (p.Arg288Trp)	CTSO (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331283	NM_001334.3(CTSO):c.815T>C (p.Leu272Pro)	CTSO (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270235	NM_001334.3(CTSO):c.742G>A (p.Val248Met)	CTSO (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078789	NM_001334.3(CTSO):c.740C>G (p.Ala247Gly)	CTSO (A247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207363	NM_001334.3(CTSO):c.685G>A (p.Asp229Asn)	CTSO (D229N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232358	NM_001334.3(CTSO):c.646A>G (p.Ile216Val)	CTSO (I216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270234	NM_001334.3(CTSO):c.611G>A (p.Cys204Tyr)	CTSO (C204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270232	NM_001334.3(CTSO):c.601A>G (p.Asn201Asp)	CTSO (N201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078788	NM_001334.3(CTSO):c.523A>G (p.Thr175Ala)	CTSO (T175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078787	NM_001334.3(CTSO):c.518G>T (p.Gly173Val)	CTSO (G173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270236	NM_001334.3(CTSO):c.509G>T (p.Cys170Phe)	CTSO (C170F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283422	NM_001334.3(CTSO):c.490T>C (p.Ser164Pro)	CTSO (S164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206533	NM_001334.3(CTSO):c.359T>C (p.Val120Ala)	CTSO (V120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391942	NM_001334.3(CTSO):c.346G>A (p.Asp116Asn)	CTSO (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355030	NM_001334.3(CTSO):c.301A>G (p.Met101Val)	CTSO (M101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459580	NM_001334.3(CTSO):c.221A>G (p.Tyr74Cys)	CTSO (Y74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483155	NM_001334.3(CTSO):c.190A>G (p.Thr64Ala)	CTSO (T64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301606	NM_001334.3(CTSO):c.157T>C (p.Tyr53His)	CTSO (Y53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351720	NM_001334.3(CTSO):c.128C>T (p.Ala43Val)	CTSO (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078786	NM_001334.3(CTSO):c.113A>G (p.Glu38Gly)	CTSO (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403791	NM_001334.3(CTSO):c.92C>G (p.Pro31Arg)	CTSO (P31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611137	NM_001334.3(CTSO):c.55G>A (p.Gly19Ser)	CTSO (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270233	NM_001334.3(CTSO):c.38T>C (p.Leu13Pro)	CTSO (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254142	NM_001334.3(CTSO):c.7G>A (p.Val3Met)	CTSO (V3M)	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 1807979	GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527132	GRCh37/hg19 4q32.1(chr4:156496866-156956631)	ASIC5, CTSO +3 more	Copy number loss	not specified	GUncertain significance
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 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
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 688826	GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
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 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	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 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 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
Select item 226162	GRCh37/hg19 4q32.1(chr4:156745682-157287454)	ASIC5, CTSO +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 65