TCERG1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 58827	GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1	C10orf143, EBF3 +28 more	Copy number loss	See cases	GPathogenic
Select item 152150	GRCh38/hg38 10q26.3(chr10:130619775-131684528)x3	LOC124416934, LOC126861094 +10 more	Copy number gain	See cases	GUncertain significance
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 57399	GRCh38/hg38 10q26.3(chr10:131063816-131761750)x3	LOC126861097, LOC126861098 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3175081	NM_174937.4(TCERG1L):c.1748G>A (p.Arg583Gln)	TCERG1L (R583Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771744	NM_174937.4(TCERG1L):c.1721G>A (p.Arg574Gln)	TCERG1L (R574Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2348912	NM_174937.4(TCERG1L):c.1655G>A (p.Arg552Gln)	TCERG1L (R552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512530	NM_174937.4(TCERG1L):c.1647G>C (p.Gln549His)	TCERG1L (Q549H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384618	NM_174937.4(TCERG1L):c.1640G>A (p.Arg547Gln)	TCERG1L (R547Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175080	NM_174937.4(TCERG1L):c.1579C>G (p.Leu527Val)	TCERG1L (L527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316977	NM_174937.4(TCERG1L):c.1525T>C (p.Tyr509His)	TCERG1L (Y509H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455261	NM_174937.4(TCERG1L):c.1421A>G (p.Lys474Arg)	TCERG1L (K474R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569957	NM_174937.4(TCERG1L):c.1407T>A (p.Phe469Leu)	TCERG1L (F469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522020	NM_174937.4(TCERG1L):c.1357C>T (p.Arg453Cys)	TCERG1L (R453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310151	NM_174937.4(TCERG1L):c.1356G>C (p.Glu452Asp)	TCERG1L (E452D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362212	NM_174937.4(TCERG1L):c.1331C>T (p.Pro444Leu)	TCERG1L (P444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218576	NM_174937.4(TCERG1L):c.1322C>T (p.Thr441Met)	TCERG1L (T441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748404	NM_174937.4(TCERG1L):c.1305G>A (p.Glu435=)	TCERG1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175079	NM_174937.4(TCERG1L):c.1264G>A (p.Glu422Lys)	TCERG1L (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175078	NM_174937.4(TCERG1L):c.1253G>A (p.Arg418Lys)	TCERG1L (R418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237836	NM_174937.4(TCERG1L):c.1139A>G (p.Asn380Ser)	TCERG1L (N380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587942	NM_174937.4(TCERG1L):c.1061G>A (p.Arg354Gln)	TCERG1L (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461848	NM_174937.4(TCERG1L):c.956C>T (p.Pro319Leu)	TCERG1L (P319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372079	NM_174937.4(TCERG1L):c.916A>C (p.Lys306Gln)	TCERG1L (K306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558106	NM_174937.4(TCERG1L):c.901A>T (p.Met301Leu)	TCERG1L (M301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175085	NM_174937.4(TCERG1L):c.895G>C (p.Ala299Pro)	TCERG1L (A299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207030	NM_174937.4(TCERG1L):c.887G>A (p.Arg296His)	TCERG1L (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745818	NM_174937.4(TCERG1L):c.856+9G>A	TCERG1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3175084	NM_174937.4(TCERG1L):c.850G>A (p.Val284Ile)	TCERG1L (V284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293078	NM_174937.4(TCERG1L):c.803A>C (p.His268Pro)	TCERG1L (H268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525986	NM_174937.4(TCERG1L):c.799C>T (p.Arg267Cys)	TCERG1L (R267C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526431	NM_174937.4(TCERG1L):c.788G>C (p.Ser263Thr)	TCERG1L (S263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175083	NM_174937.4(TCERG1L):c.775C>T (p.Pro259Ser)	TCERG1L (P259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464706	NM_174937.4(TCERG1L):c.766C>T (p.Leu256Phe)	TCERG1L (L256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392073	NM_174937.4(TCERG1L):c.742A>G (p.Met248Val)	TCERG1L (M248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334474	NM_174937.4(TCERG1L):c.730G>A (p.Ala244Thr)	TCERG1L (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785332	NM_174937.4(TCERG1L):c.729C>T (p.Ala243=)	TCERG1L	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2350617	NM_174937.4(TCERG1L):c.721G>A (p.Ala241Thr)	TCERG1L (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324931	NM_174937.4(TCERG1L):c.712A>G (p.Ile238Val)	TCERG1L (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781955	NM_174937.4(TCERG1L):c.608C>G (p.Ser203Cys)	TCERG1L (S203C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2321131	NM_174937.4(TCERG1L):c.528G>T (p.Trp176Cys)	TCERG1L (W176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260639	NM_174937.4(TCERG1L):c.509T>C (p.Phe170Ser)	TCERG1L (F170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235808	NM_174937.4(TCERG1L):c.482A>T (p.Asn161Ile)	TCERG1L (N161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558292	NM_174937.4(TCERG1L):c.448A>G (p.Ile150Val)	TCERG1L (I150V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324929	NM_174937.4(TCERG1L):c.383C>T (p.Pro128Leu)	TCERG1L (P128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175082	NM_174937.4(TCERG1L):c.365C>T (p.Pro122Leu)	TCERG1L (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375086	NM_174937.4(TCERG1L):c.323T>C (p.Phe108Ser)	TCERG1L (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324930	NM_174937.4(TCERG1L):c.281C>T (p.Pro94Leu)	TCERG1L (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353330	NM_174937.4(TCERG1L):c.247C>G (p.Pro83Ala)	TCERG1L (P83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392709	NM_174937.4(TCERG1L):c.223C>T (p.Pro75Ser)	TCERG1L (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394861	NM_174937.4(TCERG1L):c.199C>G (p.Pro67Ala)	TCERG1L (P67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457249	NM_174937.4(TCERG1L):c.81G>C (p.Trp27Cys)	TCERG1L (W27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483480	NM_174937.4(TCERG1L):c.37C>A (p.Gln13Lys)	TCERG1L (Q13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684628	GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3	BNIP3, DPYSL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic

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