AS3MT[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 768385	NM_020682.4(AS3MT):c.43-10G>T	AS3MT, BORCS7-ASMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2314650	NM_020682.4(AS3MT):c.220A>G (p.Ile74Val)	BORCS7-ASMT, AS3MT (I74V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547453	NM_020682.4(AS3MT):c.254G>T (p.Cys85Phe)	AS3MT, BORCS7-ASMT (C85F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315361	NM_020682.4(AS3MT):c.311C>G (p.Thr104Ser)	BORCS7-ASMT, AS3MT (T104S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593585	NM_020682.4(AS3MT):c.349T>C (p.Tyr117His)	AS3MT, BORCS7-ASMT (Y117H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350017	NM_020682.4(AS3MT):c.355A>G (p.Met119Val)	AS3MT, BORCS7-ASMT (M119V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392150	NM_020682.4(AS3MT):c.556G>A (p.Val186Ile)	AS3MT, BORCS7-ASMT (V186I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307093	NM_020682.4(AS3MT):c.622G>A (p.Gly208Ser)	BORCS7-ASMT, AS3MT (G208S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254580	NM_020682.4(AS3MT):c.818T>C (p.Val273Ala)	BORCS7-ASMT, AS3MT (V273A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527775	NM_020682.4(AS3MT):c.835A>G (p.Ile279Val)	AS3MT, BORCS7-ASMT (I279V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524442	NM_020682.4(AS3MT):c.950A>G (p.Gln317Arg)	AS3MT, BORCS7-ASMT (Q317R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217367	NM_020682.4(AS3MT):c.1034A>G (p.Asp345Gly)	BORCS7-ASMT, LOC107984265 +1 more (D345G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 688475	GRCh37/hg19 10q24.32(chr10:104651078-104718119)x3	AS3MT, CNNM2	Copy number gain	not provided	GUncertain significance
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 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 33