TMX2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	BTBD18, CLP1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2282200	NM_015959.4(TMX2):c.77A>G (p.Tyr26Cys)	TMX2-CTNND1, TMX2 (Y26C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1341756	NM_015959.4(TMX2):c.79C>T (p.Leu27Phe)	TMX2, TMX2-CTNND1 (L27F)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GUncertain significance
Select item 1049098	NM_015959.4(TMX2):c.95T>G (p.Leu32Arg)	TMX2, TMX2-CTNND1 (L32R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2585461	NM_015959.4(TMX2):c.107T>C (p.Phe36Ser)	TMX2, TMX2-CTNND1 (F36S)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GUncertain significance
Select item 779435	NM_015959.4(TMX2):c.114C>T (p.Leu38=)	TMX2, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2641793	NM_015959.4(TMX2):c.142G>C (p.Gly48Arg)	TMX2, TMX2-CTNND1 (G48R)	Single nucleotide variant (non-coding transcript variant +2 more)	TMX2-related condition +1 more	GLikely benign
Select item 804371	NM_015959.4(TMX2):c.157C>T (p.Arg53Cys)	TMX2, TMX2-CTNND1 (R53C)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 804367	NM_015959.4(TMX2):c.164A>C (p.Asp55Ala)	TMX2-CTNND1, TMX2 (D55A)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 804373	NM_015959.4(TMX2):c.166G>C (p.Gly56Arg)	TMX2, TMX2-CTNND1 (G56R)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 1209886	NM_015959.4(TMX2):c.180C>G (p.Asp60Glu)	TMX2, TMX2-CTNND1 (D60E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3024111	NM_015959.4(TMX2):c.185_188del (p.Asp62fs)	TMX2, TMX2-CTNND1 (D62fs)	Deletion (non-coding transcript variant +3 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GLikely pathogenic
Select item 2502731	NM_015959.4(TMX2):c.190-3C>A	TMX2-CTNND1, TMX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2641794	NM_015959.4(TMX2):c.198G>A (p.Val66=)	TMX2, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 242547	NM_015959.3:c.326A>G	TMX2, TMX2-CTNND1 (D109G +2 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2458473	NM_015959.4(TMX2):c.334A>G (p.Met112Val)	TMX2, TMX2-CTNND1 (M112V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2504764	NM_015959.4(TMX2):c.375G>A (p.Met125Ile)	TMX2, TMX2-CTNND1 (M125I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804368	NM_015959.4(TMX2):c.391dup (p.Leu131fs)	TMX2-CTNND1, TMX2 (L103fs +4 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 1098352	NM_015959.4(TMX2):c.392del (p.Leu131fs)	TMX2-CTNND1, TMX2 (L103fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2243904	NM_015959.4(TMX2):c.443A>T (p.Glu148Val)	TMX2-CTNND1, TMX2 (E148V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1098353	NM_015959.4(TMX2):c.454C>T (p.Arg152Trp)	TMX2, TMX2-CTNND1 (R114W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2479403	NM_015959.4(TMX2):c.457G>T (p.Asp153Tyr)	TMX2, TMX2-CTNND1 (D115Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246561	NM_015959.4(TMX2):c.466G>T (p.Val156Phe)	TMX2-CTNND1, TMX2 (V62F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641795	NM_015959.4(TMX2):c.507C>T (p.Asp169=)	TMX2, TMX2-CTNND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3065458	NM_015959.4(TMX2):c.532G>A (p.Ala178Thr)	TMX2, TMX2-CTNND1 (A109T +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GUncertain significance
Select item 3031093	NM_015959.4(TMX2):c.548+10G>A	TMX2, TMX2-CTNND1	Single nucleotide variant (intron variant)	TMX2-related condition	GLikely benign
Select item 2264578	NM_015959.4(TMX2):c.563G>C (p.Gly188Ala)	TMX2-CTNND1, TMX2 (G188A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804372	NM_015959.4(TMX2):c.609_614+15del	TMX2-CTNND1, TMX2	Deletion (splice donor variant +1 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 1030429	NM_015959.4(TMX2):c.613C>T (p.Arg205Trp)	TMX2, TMX2-CTNND1 (R111* +6 more)	Single nucleotide variant (missense variant +3 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GLikely pathogenic
Select item 804370	NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	TMX2, TMX2-CTNND1 (R205Q +4 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +2 more	GConflicting classifications of pathogenicity
Select item 2511375	NM_015959.4(TMX2):c.634C>T (p.Pro212Ser)	TMX2-CTNND1, TMX2 (P118S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 242546	NM_015959.3:c.691C>T	TMX2, TMX2-CTNND1 (R231W +7 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2504761	NM_015959.4(TMX2):c.724_725del (p.Val242fs)	TMX2, TMX2-CTNND1 (V148fs +6 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 804369	NM_015959.4(TMX2):c.757C>T (p.Arg253Ter)	TMX2-CTNND1, TMX2 (R253* +6 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	GPathogenic
Select item 3048906	NM_015959.4(TMX2):c.799C>T (p.Leu267=)	TMX2, TMX2-CTNND1	Single nucleotide variant (synonymous variant +2 more)	TMX2-related condition	GLikely benign
Select item 2627135	NM_015959.4(TMX2):c.818A>G (p.Asn273Ser)	TMX2-CTNND1, TMX2 (N179S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530105	NM_015959.4(TMX2):c.826G>T (p.Glu276Ter)	TMX2, TMX2-CTNND1 (E189* +6 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2641796	NM_015959.4(TMX2):c.879G>A (p.Lys293=)	TMX2, TMX2-CTNND1	Single nucleotide variant (synonymous variant +2 more)	TMX2-related condition +1 more	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1074254	NC_000011.9:g.(?_57471510)_(57564464_?)del	BTBD18, CTNND1 +3 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 51