ClinVar for Gene (Select 92170) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214893	NM_138384.4(MTG1):c.911A>C (p.Asp304Ala)	MTG1 (D304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214886	NM_138384.4(MTG1):c.757G>A (p.Val253Met)	MTG1 (V253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214870	NM_138384.4(MTG1):c.706A>G (p.Met236Val)	MTG1 (M236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214854	NM_138384.4(MTG1):c.589C>A (p.Leu197Met)	MTG1 (L197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214847	NM_138384.4(MTG1):c.460G>A (p.Val154Met)	MTG1 (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214844	NM_138384.4(MTG1):c.433T>C (p.Cys145Arg)	MTG1 (C145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214835	NM_138384.4(MTG1):c.209A>G (p.Gln70Arg)	MTG1 (Q70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214831	NM_138384.4(MTG1):c.14C>T (p.Pro5Leu)	LOC130005028, MTG1 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214816	NM_138384.4(MTG1):c.1000C>T (p.Pro334Ser)	MTG1 (P334S)	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 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 3024575	GRCh37/hg19 10q26.3(chr10:135193503-135412582)x1	CYP2E1, MTG1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	CYP2E1, MTG1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
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 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	ADAM8, CALY +11 more	Copy number gain	not provided	GUncertain significance
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 2641032	NM_138384.4(MTG1):c.801C>T (p.Arg267=)	MTG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641031	NM_138384.4(MTG1):c.30C>G (p.Ser10Arg)	LOC130005028, MTG1 (S10R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2563800	NM_138384.4(MTG1):c.745C>T (p.Arg249Cys)	MTG1 (R249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553435	NM_138384.4(MTG1):c.964G>A (p.Asp322Asn)	MTG1 (D322N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540919	NM_138384.4(MTG1):c.125T>C (p.Met42Thr)	MTG1 (M42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540586	NM_138384.4(MTG1):c.697G>A (p.Glu233Lys)	MTG1 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539753	NM_138384.4(MTG1):c.592A>G (p.Met198Val)	MTG1 (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527892	NM_138384.4(MTG1):c.8T>G (p.Leu3Trp)	LOC130005028, MTG1 (L3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2476884	NM_138384.4(MTG1):c.187T>G (p.Ser63Ala)	MTG1 (S63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471284	NM_138384.4(MTG1):c.554C>A (p.Ala185Asp)	MTG1 (A185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465014	NM_138384.4(MTG1):c.714C>G (p.Asp238Glu)	MTG1 (D238E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456515	NM_138384.4(MTG1):c.191G>C (p.Gly64Ala)	MTG1 (G64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, ZNF511 +17 more	Duplication	not provided	GUncertain significance
Select item 2406550	NM_138384.4(MTG1):c.8T>C (p.Leu3Ser)	LOC130005028, MTG1 (L3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398299	NM_138384.4(MTG1):c.145G>C (p.Val49Leu)	MTG1 (V49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374355	NM_138384.4(MTG1):c.137T>A (p.Leu46Gln)	MTG1 (L46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330795	NM_138384.4(MTG1):c.727A>C (p.Thr243Pro)	MTG1 (T243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330293	NM_138384.4(MTG1):c.59T>G (p.Phe20Cys)	LOC130005028, MTG1 (F20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320032	NM_138384.4(MTG1):c.650G>A (p.Gly217Asp)	MTG1 (G217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314735	NM_138384.4(MTG1):c.836C>T (p.Thr279Met)	MTG1 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296589	NM_138384.4(MTG1):c.39G>C (p.Gln13His)	LOC130005028, MTG1 (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277463	NM_138384.4(MTG1):c.973C>T (p.Arg325Trp)	MTG1 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251068	NM_138384.4(MTG1):c.994A>C (p.Thr332Pro)	MTG1 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248587	NM_138384.4(MTG1):c.986C>T (p.Pro329Leu)	MTG1 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243034	NM_138384.4(MTG1):c.16C>T (p.Arg6Cys)	LOC130005028, MTG1 (R6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226652	NM_138384.4(MTG1):c.716A>G (p.Tyr239Cys)	MTG1 (Y239C)	Single nucleotide variant (missense variant)	not specified	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 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
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 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1458937	NC_000010.10:g.(?_134598420)_(135373622_?)del	ADAM8, ADGRA1 +17 more	Deletion	not provided	GPathogenic
Select item 1456992	NC_000010.10:g.(?_134916201)_(135439108_?)del	ADAM8, ADGRA1 +15 more	Deletion	not provided	GPathogenic
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
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 979913	GRCh37/hg19 10q26.3(chr10:135204187-135408132)x3	CYP2E1, MTG1 +3 more	Copy number gain	not provided	GLikely benign
Select item 979912	GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3	MTG1, SPRN +6 more	Copy number gain	not provided	GLikely benign
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 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 781793	NM_138384.4(MTG1):c.588C>T (p.Pro196=)	MTG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 687815	GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1	CALY, CYP2E1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687341	GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4	ADAM8, CALY +10 more	Copy number gain	not provided	GUncertain significance
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 686395	GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1	CYP2E1, ECHS1 +6 more	Copy number loss	not provided	GUncertain significance
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 563776	GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4	STK32C, ECHS1 +24 more	Copy number gain	not provided	GUncertain significance
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 443108	GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1	ADAM8, ADGRA1 +18 more	Copy number loss	See cases	GUncertain significance
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 442210	GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1	ADAM8, ADGRA1 +16 more	Copy number loss	See cases	GLikely pathogenic

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