ClinVar for Gene (Select 256536) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	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	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2587942	NM_174937.4(TCERG1L):c.1061G>A (p.Arg354Gln)	TCERG1L (R354Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569957	NM_174937.4(TCERG1L):c.1407T>A (p.Phe469Leu)	TCERG1L (F469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558292	NM_174937.4(TCERG1L):c.448A>G (p.Ile150Val)	TCERG1L (I150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2558106	NM_174937.4(TCERG1L):c.901A>T (p.Met301Leu)	TCERG1L (M301L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526431	NM_174937.4(TCERG1L):c.788G>C (p.Ser263Thr)	TCERG1L (S263T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525986	NM_174937.4(TCERG1L):c.799C>T (p.Arg267Cys)	TCERG1L (R267C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522020	NM_174937.4(TCERG1L):c.1357C>T (p.Arg453Cys)	TCERG1L (R453C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512530	NM_174937.4(TCERG1L):c.1647G>C (p.Gln549His)	TCERG1L (Q549H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2483480	NM_174937.4(TCERG1L):c.37C>A (p.Gln13Lys)	TCERG1L (Q13K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464706	NM_174937.4(TCERG1L):c.766C>T (p.Leu256Phe)	TCERG1L (L256F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461848	NM_174937.4(TCERG1L):c.956C>T (p.Pro319Leu)	TCERG1L (P319L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457249	NM_174937.4(TCERG1L):c.81G>C (p.Trp27Cys)	TCERG1L (W27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455261	NM_174937.4(TCERG1L):c.1421A>G (p.Lys474Arg)	TCERG1L (K474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394861	NM_174937.4(TCERG1L):c.199C>G (p.Pro67Ala)	TCERG1L (P67A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392709	NM_174937.4(TCERG1L):c.223C>T (p.Pro75Ser)	TCERG1L (P75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392073	NM_174937.4(TCERG1L):c.742A>G (p.Met248Val)	TCERG1L (M248V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384618	NM_174937.4(TCERG1L):c.1640G>A (p.Arg547Gln)	TCERG1L (R547Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375086	NM_174937.4(TCERG1L):c.323T>C (p.Phe108Ser)	TCERG1L (F108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372079	NM_174937.4(TCERG1L):c.916A>C (p.Lys306Gln)	TCERG1L (K306Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362212	NM_174937.4(TCERG1L):c.1331C>T (p.Pro444Leu)	TCERG1L (P444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353330	NM_174937.4(TCERG1L):c.247C>G (p.Pro83Ala)	TCERG1L (P83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350617	NM_174937.4(TCERG1L):c.721G>A (p.Ala241Thr)	TCERG1L (A241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348912	NM_174937.4(TCERG1L):c.1655G>A (p.Arg552Gln)	TCERG1L (R552Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334474	NM_174937.4(TCERG1L):c.730G>A (p.Ala244Thr)	TCERG1L (A244T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321131	NM_174937.4(TCERG1L):c.528G>T (p.Trp176Cys)	TCERG1L (W176C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316977	NM_174937.4(TCERG1L):c.1525T>C (p.Tyr509His)	TCERG1L (Y509H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310151	NM_174937.4(TCERG1L):c.1356G>C (p.Glu452Asp)	TCERG1L (E452D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293078	NM_174937.4(TCERG1L):c.803A>C (p.His268Pro)	TCERG1L (H268P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260639	NM_174937.4(TCERG1L):c.509T>C (p.Phe170Ser)	TCERG1L (F170S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237836	NM_174937.4(TCERG1L):c.1139A>G (p.Asn380Ser)	TCERG1L (N380S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235808	NM_174937.4(TCERG1L):c.482A>T (p.Asn161Ile)	TCERG1L (N161I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218576	NM_174937.4(TCERG1L):c.1322C>T (p.Thr441Met)	TCERG1L (T441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207030	NM_174937.4(TCERG1L):c.887G>A (p.Arg296His)	TCERG1L (R296H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1807994	GRCh37/hg19 10q26.3(chr10:132844200-132899703)x1	TCERG1L, TCERG1L-AS1	Copy number loss	not provided	GUncertain significance
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815390	GRCh37/hg19 10q26.3(chr10:131759691-133023235)x3	EBF3, TCERG1L-AS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
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 781955	NM_174937.4(TCERG1L):c.608C>G (p.Ser203Cys)	TCERG1L (S203C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 748404	NM_174937.4(TCERG1L):c.1305G>A (p.Glu435=)	TCERG1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745818	NM_174937.4(TCERG1L):c.856+9G>A	TCERG1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563785	GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1	CFAP46, ECHS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443266	GRCh37/hg19 10q26.3(chr10:132393752-133524273)x3	TCERG1L, TCERG1L-AS1	Copy number gain	See cases	GLikely benign
Select item 442903	GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	ADAM12, ADAM8 +41 more	Copy number loss	See cases	GPathogenic
Select item 442485	GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1	ADAM8, ADGRA1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 442275	GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3	ADAM8, ADGRA1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 442270	GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1	BNIP3, CFAP46 +15 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395636	GRCh37/hg19 10q26.3(chr10:132680218-133177546)x3	TCERG1L, TCERG1L-AS1	Copy number gain	See cases	GLikely benign
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 395021	GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1	ADAM8, ADGRA1 +28 more	Copy number loss	See cases	GPathogenic

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