MTG2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 146563	GRCh38/hg38 20q13.33(chr20:62136723-62197472)x3	LOC121853018, LOC126863082 +9 more	Copy number gain	See cases	GBenign
Select item 3296617	NM_015666.4(MTG2):c.4G>A (p.Ala2Thr)	MTG2 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274694	NM_015666.4(MTG2):c.40G>A (p.Val14Met)	MTG2 (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214987	NM_015666.4(MTG2):c.64G>T (p.Ala22Ser)	MTG2 (A22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652468	NM_015666.4(MTG2):c.105G>T (p.Leu35=)	MTG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3296618	NM_015666.4(MTG2):c.142C>T (p.Arg48Cys)	MTG2 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368462	NM_015666.4(MTG2):c.146C>T (p.Ala49Val)	MTG2 (A49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214920	NM_015666.4(MTG2):c.150C>G (p.Asp50Glu)	MTG2 (D50E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296619	NM_015666.4(MTG2):c.152T>C (p.Leu51Pro)	MTG2 (L51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214923	NM_015666.4(MTG2):c.161A>G (p.His54Arg)	MTG2 (H54R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211355	NM_015666.4(MTG2):c.165G>T (p.Gln55His)	MTG2 (Q55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211356	NM_015666.4(MTG2):c.166G>A (p.Glu56Lys)	MTG2 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214935	NM_015666.4(MTG2):c.224A>C (p.Tyr75Ser)	MTG2 (Y75S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237732	NM_015666.4(MTG2):c.226C>T (p.Arg76Trp)	MTG2 (R76W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360934	NM_015666.4(MTG2):c.227G>A (p.Arg76Gln)	MTG2 (R94Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491558	NM_015666.4(MTG2):c.253G>A (p.Gly85Arg)	MTG2 (G103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228057	NM_015666.4(MTG2):c.290G>C (p.Arg97Pro)	MTG2 (R97P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211358	NM_015666.4(MTG2):c.323G>A (p.Gly108Glu)	MTG2 (G108E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288415	NM_015666.4(MTG2):c.343A>C (p.Ile115Leu)	MTG2 (I133L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232603	NM_015666.4(MTG2):c.391C>T (p.Arg131Trp)	MTG2 (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214956	NM_015666.4(MTG2):c.406A>G (p.Ser136Gly)	MTG2 (S136G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618360	NM_015666.4(MTG2):c.442C>T (p.Arg148Cys)	MTG2 (R148C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377577	NM_015666.4(MTG2):c.445A>G (p.Ser149Gly)	MTG2 (S149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3214967	NM_015666.4(MTG2):c.454G>A (p.Val152Ile)	MTG2 (V152I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296621	NM_015666.4(MTG2):c.466C>T (p.Arg156Trp)	MTG2 (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214970	NM_015666.4(MTG2):c.475G>A (p.Val159Met)	MTG2 (V159M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617013	NM_015666.4(MTG2):c.516C>G (p.Asp172Glu)	MTG2 (D172E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233355	NM_015666.4(MTG2):c.533A>T (p.Asp178Val)	MTG2 (D178V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215621	NM_015666.4(MTG2):c.548C>T (p.Ala183Val)	MTG2 (A201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598352	NM_015666.4(MTG2):c.637C>G (p.Gln213Glu)	MTG2 (Q231E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214982	NM_015666.4(MTG2):c.647T>C (p.Val216Ala)	MTG2 (V216A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304117	NM_015666.4(MTG2):c.679G>A (p.Ala227Thr)	MTG2 (A245T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652469	NM_015666.4(MTG2):c.681C>T (p.Ala227=)	MTG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3214990	NM_015666.4(MTG2):c.685A>G (p.Met229Val)	MTG2 (M229V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307989	NM_015666.4(MTG2):c.703G>T (p.Ala235Ser)	MTG2 (A253S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259436	NM_015666.4(MTG2):c.706G>A (p.Gly236Arg)	MTG2 (G236R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214998	NM_015666.4(MTG2):c.709A>C (p.Lys237Gln)	MTG2 (K237Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281854	NM_015666.4(MTG2):c.725G>A (p.Arg242Gln)	MTG2 (R242Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215003	NM_015666.4(MTG2):c.823G>A (p.Ala275Thr)	MTG2 (A293T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215005	NM_015666.4(MTG2):c.884C>T (p.Ala295Val)	MTG2 (A313V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317398	NM_015666.4(MTG2):c.905G>A (p.Arg302His)	MTG2 (R320H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387519	NM_015666.4(MTG2):c.911G>A (p.Arg304His)	MTG2 (R322H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215009	NM_015666.4(MTG2):c.917T>G (p.Leu306Arg)	MTG2 (L306R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556757	NM_015666.4(MTG2):c.990G>T (p.Met330Ile)	MTG2 (M330I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215013	NM_015666.4(MTG2):c.995A>G (p.Glu332Gly)	MTG2 (E332G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214908	NM_015666.4(MTG2):c.1027G>A (p.Val343Ile)	MTG2 (V343I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2217067	NM_015666.4(MTG2):c.1064A>G (p.Asn355Ser)	MTG2 (N373S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408798	NM_015666.4(MTG2):c.1079G>A (p.Arg360Gln)	MTG2 (R378Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2325033	NM_015666.4(MTG2):c.1163T>C (p.Leu388Pro)	MTG2 (L388P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205969	NM_015666.4(MTG2):c.1171G>A (p.Ala391Thr)	MTG2 (A391T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356974	NM_015666.4(MTG2):c.1186G>A (p.Glu396Lys)	MTG2 (E396K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564619	GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3	MTG2, LAMA5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 73