ClinVar for Gene (Select 129932885) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 874593	NM_000254.3(MTR):c.-173G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873592	NM_000254.3(MTR):c.-309G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873591	NM_000254.3(MTR):c.-328T>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873590	NM_000254.3(MTR):c.-344C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873589	NM_000254.3(MTR):c.-356C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 463185	NC_000001.10:g.(?_236849954)_(237205889_?)dup	ACTN2, LOC110121264 +9 more	Duplication	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 296544	NM_000254.3(MTR):c.-108G>C	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296543	NM_000254.3(MTR):c.-111C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296542	NM_000254.3(MTR):c.-133G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296541	NM_000254.3(MTR):c.-151C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296540	NM_000254.3(MTR):c.-173G>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GLikely benign
Select item 296539	NM_000254.3(MTR):c.-198C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296538	NM_000254.3(MTR):c.-201C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296537	NM_000254.3(MTR):c.-249C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296536	NM_000254.3(MTR):c.-321C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 296535	NM_000254.3(MTR):c.-379C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	See cases	GUncertain significance
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 more	Copy number gain	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35